Shared Phenotype
Clinical Convention
Congenital conditions in which the karyotype is 46,XX but gonadal or anatomical sex development is atypical. What holds these conditions together is the karyotype and the clinical presentation it frames — a newborn...
4 members
2 criteria blocks
Coverage not assessed
Shared Phenotype
Clinical Convention
The acromesomelic dysplasias are skeletal dysplasias in which limb shortening falls disproportionately on the middle (forearm, lower leg) and distal (hand, foot) segments, sparing or largely sparing the proximal...
5 members
2 criteria blocks
Coverage 5/8 (62.5%)
Shared Phenotype
Clinical Convention
The alopecia-intellectual disability syndromes (APMR; historically "alopecia with mental retardation syndrome", also Perniola-Krajewska-Carnevale syndrome) are a numbered series of rare autosomal recessive...
2 members
1 criteria block
Coverage 2/4 (50.0%)
Shared Mechanism
Shared Pathway
A group of 46,XY disorders of sex development in which the testis is normally determined but the androgen pathway downstream of it fails — either the biosynthesis of testosterone or its peripheral activation to the...
2 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Phenotype
IUIS Table 7 — autoinflammatory disorders. These inborn errors of immunity drive sterile, antigen-independent inflammation through unrestrained innate signalling — inflammasome activation and IL-1beta release,...
2 members
1 criteria block
Coverage not assessed
Shared Phenotype
Clinical Convention
B-cell non-Hodgkin lymphoma (B-NHL) is the large, clinically dominant family of non-Hodgkin lymphomas arising from mature (peripheral) B lymphocytes. Its members span indolent and aggressive entities that are defined...
8 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Pathway
The BBSome-opathies are the subset of ciliopathies caused by lesions in the BBSome molecular machine itself - its eight obligate core subunits (BBS1, BBS2, BBS4, BBS5, BBS7, TTC8/BBS8, BBS9, BBIP1/BBS18), its...
3 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Phenotype
IUIS Table 9 — bone marrow failure. These inborn errors of immunity reach the immune system from below, through failure of the haematopoietic stem and progenitor compartment itself rather than through a lesion in a...
1 member
1 criteria block
Shared Phenotype
Clinical Convention
The bulbospinal muscular atrophies (bulbospinal amyotrophies) are the subset of lower-motor-neuron disorders in which degeneration involves BOTH the brainstem motor nuclei — producing progressive bulbar /...
3 members
2 criteria blocks
Coverage not assessed
Shared Mechanism
Shared Gene Family
The carnitine palmitoyltransferase deficiencies are the two inherited defects of the carnitine shuttle's transferase steps: CPT1A deficiency, which blocks formation of long-chain acylcarnitines at the outer...
2 members
1 criteria block
Coverage 2/2 (100.0%)
Shared Mechanism
Shared Phenotype
Cartilage matrix degradation disorders are articular conditions whose pathophysiology includes chondrocyte stress, catabolic cytokine signaling, matrix-degrading enzyme activity, and progressive loss of cartilage...
2 members
1 criteria block
1 candidate
Shared Mechanism
Shared Pathway
The centrosomopathies are hereditary disorders caused by dysfunction of the centrosome, centriole, or mitotic spindle apparatus. Because the centrosome governs the orientation, symmetry, and timing of progenitor cell...
8 members
1 criteria block
Shared Phenotype
Shared Mechanism
The cerebellar ataxias are the clinically recognized group of disorders whose cardinal manifestation is progressive incoordination of gait, limb, speech and eye movement arising from disease of the cerebellum and its...
32 members
2 criteria blocks
Coverage not assessed
Shared Mechanism
Shared Phenotype
A curated grouping of explicit Charcot-Marie-Tooth disease entries spanning the broad CMT umbrella entry, the currently curated type 1 demyelinating and type 2 axonal CMT entries, and the gene-anchored standalone...
5 members
1 criteria block
Coverage not assessed
Clinical Convention
Shared Phenotype
Childhood-onset epilepsy syndromes are epilepsy syndromes defined by their characteristic age at onset (the infantile-to-childhood window) under the ILAE age-at-onset classification framework, rather than by a shared...
3 members
1 criteria block
Coverage not assessed
Shared Phenotype
Clinical Convention
Chondrodysplasia punctata (CDP) is a clinically defined, etiologically heterogeneous family of skeletal disorders unified by a single radiographic hallmark: punctate ("stippled") foci of abnormal calcification in the...
9 members
2 criteria blocks
Coverage not assessed
Shared Mechanism
Shared Pathway
The ciliopathies are a group of Mendelian disorders caused by defects in the structure or function of the cilium. Diverse lesions in genes encoding basal body, transition zone, and intraflagellar transport (IFT)...
24 members
1 criteria block
Coverage 20/55 (36.4%)
Shared Phenotype
Clinical Convention
The citrullinemias are the two inherited diseases defined by elevated plasma citrulline: citrullinemia type I, caused by deficiency of argininosuccinate synthetase itself (ASS1), and citrin deficiency (historically...
2 members
2 criteria blocks
Coverage 2/2 (100.0%)
Shared Mechanism
Shared Phenotype
IUIS Table 1 — immunodeficiencies affecting both cellular and humoral immunity. These combined immunodeficiencies (CID) and severe combined immunodeficiencies (SCID) feature impaired T-cell development or function...
5 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Phenotype
IUIS Table 2 — combined immunodeficiencies with associated or syndromic features. These IEIs combine T- and/or B-cell immunodeficiency with prominent developmental, craniofacial, ectodermal, hematologic, or...
10 members
1 criteria block
Shared Mechanism
Shared Phenotype
IUIS Table 8 — complement deficiencies. These inborn errors of immunity disable a component or regulator of the complement cascade, an innate humoral effector system that operates without cells. The infection...
1 member
1 criteria block
Coverage not assessed
Shared Phenotype
Shared Mechanism
Genetic disorders in which gonadal failure is CENTRAL — the gonads are intrinsically capable, but hypothalamic GnRH secretion or its pituitary transduction is deficient, so LH and FSH are low or inappropriately...
7 members
1 criteria block
Coverage not assessed
Shared Pathway
Congenital disorders of deglycosylation are inherited disorders of glycan removal and free-glycan catabolism. The local curated members are NGLY1-CDDG, caused by failure to deglycosylate misfolded N-linked...
2 members
1 criteria block
Coverage 2/2 (100.0%)
Shared Pathway
The congenital disorders of glycosylation (CDG) are a large group of inborn errors of metabolism caused by defects in the synthesis and attachment of glycans to proteins and lipids. Defects in the assembly of the...
15 members
1 criteria block
Coverage 14/155 (9.0%)
Shared Mechanism
Shared Phenotype
IUIS Table 5 — congenital defects of phagocyte number or function. These inborn errors of immunity impair the neutrophil/monocyte/macrophage compartment, either quantitatively (congenital neutropenia) or...
2 members
1 criteria block
Shared Phenotype
Clinical Convention
Diabetes mellitus is a clinically convergent group of etiologically distinct disorders that share the defining feature of chronic hyperglycemia arising from defects in insulin secretion, insulin action, or both. This...
3 members
1 criteria block
Coverage not assessed
Other
A curated union of dismech entries in which disease can arise from the combined action of variants at two loci (digenic) or a small number of loci (oligogenic/triallelic), rather than a single Mendelian locus....
24 members
1 criteria block
2 candidates
Shared Pathway
An auditable grouping of distinct DisMech disease entries whose primary genetic defect disrupts cellular copper transport, trafficking, or delivery. Members span the two paralogous copper-transporting P-type ATPases...
4 members
1 criteria block
Coverage not assessed
Shared Pathway
Shared Mechanism
An auditable grouping of distinct DisMech disease entries whose primary defect disrupts glyoxylate, glycolate, oxalate, or calcium oxalate handling. Members include hepatic enzyme deficiencies that overproduce...
6 members
1 criteria block
Shared Pathway
Shared Mechanism
The disorders of glycosylphosphatidylinositol (GPI) anchor biosynthesis are a group of inborn (and, in one acquired case, somatic) errors of the pathway that builds the GPI anchor and attaches it to nascent proteins...
4 members
1 criteria block
Coverage 3/19 (15.8%)
Shared Phenotype
Shared Mechanism
A curated union of the dismech Disease entries that make up the distal hereditary motor neuropathies (dHMN; also called distal spinal muscular atrophy, dSMA, or "spinal CMT") — inherited disorders in which...
6 members
2 criteria blocks
Coverage 5/6 (83.3%)
Shared Mechanism
Shared Treatment Response
DNA repair synthetic-lethality cancers are tumors whose mechanism graph includes homologous recombination or FA/BRCA pathway impairment, replication-associated DNA damage accumulation, and vulnerability to PARP...
3 members
1 criteria block
1 candidate
Clinical Convention
Shared Phenotype
Early-infantile developmental and epileptic encephalopathy (EIDEE) is the ILAE electroclinical syndrome defined by frequent, drug-resistant seizures beginning at or before three months of age, together with an...
6 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Phenotype
A group of heritable connective-tissue disorders whose shared clinical space includes joint hypermobility or instability, skin hyperextensibility or fragility, atrophic scarring, easy bruising, and variable...
7 members
1 criteria block
Coverage 7/33 (21.2%)
Shared Mechanism
Shared Phenotype
Epilepsy excitation-inhibition imbalance disorders are entries whose pathophysiology converges on neuronal network hyperexcitability: ion-channel or synaptic dysfunction shifts excitation and inhibition toward...
3 members
1 criteria block
82 candidates
Clinical Convention
Shared Phenotype
Epithelial ovarian cancer is not a single disease but a curated union of mechanistically distinct histotypes that share an ovarian/tubal epithelial origin and overlapping clinical presentation. The major WHO...
4 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Phenotype
Familial dilated cardiomyopathy is the Mendelian form of dilated cardiomyopathy: left ventricular or biventricular dilation with impaired contraction, not explained by abnormal loading conditions or coronary artery...
13 members
2 criteria blocks
Coverage 13/45 (28.9%)
Shared Mechanism
Shared Gene Family
Familial hypertrophic cardiomyopathy is the Mendelian form of hypertrophic cardiomyopathy: left ventricular hypertrophy that is not explained by abnormal loading conditions, arising from a heritable defect of the...
15 members
2 criteria blocks
Coverage 15/48 (31.2%)
Clinical Convention
Shared Phenotype
The feeding and eating disorders are a clinically defined class of mental disorders characterized by a persistent disturbance of eating or eating-related behavior that results in altered consumption or absorption of...
6 members
1 criteria block
Coverage 6/6 (100.0%)
Shared Gene Family
Shared Mechanism
A group of Mendelian skeletal disorders caused by gain-of-function variants in the fibroblast growth factor receptor genes FGFR1, FGFR2, and FGFR3. Constitutive receptor activation drives sustained MAPK/STAT...
15 members
1 criteria block
Shared Mechanism
A mechanistically defined group of disorders that converge on the conserved fibrotic response: tissue injury and inflammation drive activation of mesenchymal cells into ECM-secreting myofibroblasts, whose excessive...
9 members
1 criteria block
Shared Mechanism
Shared Phenotype
Glaucomatous optic neuropathies are disorders whose pathophysiology converges on progressive retinal ganglion cell apoptosis, optic nerve degeneration, and visual field loss. Upstream causes of outflow dysfunction...
3 members
1 criteria block
3 candidates
Shared Mechanism
Clinical Convention
The glycogen storage diseases (glycogenoses) are the inherited disorders in which a defect of glycogen synthesis, degradation, or its immediate regulatory and transport machinery produces abnormal glycogen quantity...
13 members
1 criteria block
Coverage not assessed
Shared Mechanism
Clinical Convention
The GM2 gangliosidoses are the lysosomal storage diseases caused by failure to degrade GM2 ganglioside. Hydrolysis of GM2 requires three gene products acting at one enzymatic step: the beta-hexosaminidase A...
3 members
2 criteria blocks
Coverage 3/3 (100.0%)
Shared Mechanism
Shared Pathway
A group of disorders of sex development arising at the level of gonadal determination — the embryonic switch that commits the bipotential gonad to testis or ovary. Defects in the testis-determination pathway (or its...
3 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Pathway
Shared Treatment Response
The Hedgehog pathway activation disorders are neoplastic diseases driven by ligand-independent, constitutive activation of Hedgehog signaling. A genetic lesion removes the pathway's tonic restraint — either loss of...
5 members
1 criteria block
Shared Pathway
Shared Phenotype
Holoprosencephaly — failure of the embryonic prosencephalon to cleave into paired cerebral hemispheres, with a graded midline craniofacial deficiency — arising from germline lesions at successive levels of Sonic...
3 members
1 criteria block
Coverage not assessed
Shared Mechanism
The hereditary systemic amyloidoses are a group of Mendelian diseases in which a germline variant in a precursor protein renders that protein amyloidogenic, so that it misfolds, assembles into beta-sheet fibrils, and...
2 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Pathway
Heritable thoracic aortic disease (HTAD) is a group of Mendelian disorders that predispose to thoracic aortic aneurysm and dissection. Despite diverse primary lesions — extracellular-matrix defects, smooth-muscle...
5 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Pathway
Shared Phenotype
A curated grouping of explicit hypohidrotic ectodermal dysplasia disease entries caused by defects in the EDA-EDAR-EDARADD-NF-kappaB signaling axis. Members share impaired ectodermal appendage morphogenesis,...
3 members
1 criteria block
Coverage not assessed
Shared Phenotype
Clinical Convention
The idiopathic inflammatory myopathies (IIM) are the acquired, immune-mediated diseases of skeletal muscle: dermatomyositis, polymyositis, antisynthetase syndrome, and sporadic inclusion body myositis. All present...
4 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Pathway
Disorders in which loss of IL-17A/F-mediated mucosal barrier immunity is the route to chronic mucocutaneous candidiasis (CMC): a germline defect anywhere in the cytokine-receptor-adaptor-transcription-factor circuit...
3 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Treatment Response
A group of malignancies that share the adaptive-immune-resistance mechanism exploited by immune checkpoint blockade. Tumor neoantigens elicit an anti-tumor T cell response; in response the tumor microenvironment...
8 members
1 criteria block
Shared Mechanism
Shared Phenotype
IUIS Table 4 — diseases of immune dysregulation. These inborn errors of immunity feature uncontrolled lymphocyte activation, impaired immune checkpoints, or hyperinflammatory cytokine storms rather than isolated...
9 members
1 criteria block
Shared Mechanism
Clinical Convention
Inborn errors of immunity (IEI) are Mendelian disorders caused by germline variants in genes required for immune development, regulation, or effector function. The IUIS Expert Committee's 2024 classification — the...
9 members
1 criteria block
Coverage 0/142 (0.0%)
Shared Mechanism
Shared Gene Family
The inherited arrhythmia syndromes (cardiac channelopathies) are a group of Mendelian disorders of cardiac electrical function occurring in a structurally normal heart. Each is caused by variants in genes encoding...
14 members
1 criteria block
3 candidates
Coverage not assessed
Shared Mechanism
Shared Phenotype
The inherited platelet function disorders - the platelet-type bleeding disorders, catalogued in OMIM as the BDPLT series - are Mendelian disorders in which a component of the platelet's primary-hemostatic apparatus...
9 members
2 criteria blocks
Coverage not assessed
Shared Mechanism
Shared Phenotype
A curated grouping of explicit inherited porphyria disease entries. Current members include the inherited porphyria umbrella entry plus acute intermittent porphyria and porphyria due to ALA dehydratase deficiency,...
3 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Treatment Response
The intoxication-type inborn errors of intermediary metabolism are the group of Mendelian metabolic disorders in which a deficient enzyme or transporter causes accumulation of an upstream toxic metabolite and/or an...
19 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Phenotype
IUIS Table 6 — defects in intrinsic and innate immunity. These inborn errors of immunity leave the adaptive compartment broadly intact and instead break a pattern-recognition, cytokine-signalling, or cell-intrinsic...
2 members
1 criteria block
Shared Phenotype
Clinical Convention
Kyphomelic dysplasia is a clinical-radiographic label for skeletal dysplasias characterized by severe bowing — sharp angulation, or kyphomelia — of the long bones, especially the femora, together with variable...
2 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Phenotype
Clinical Convention
A group of malformations of cortical development in which defective neuronal positioning, cortical lamination, radial or tangential migration, terminal translocation, pial-boundary integrity, apical neuroependyma...
17 members
1 criteria block
Coverage not assessed
Shared Mechanism
The lysosomal storage disorders (LSDs) are a large group of inherited metabolic diseases caused by deficiency of a lysosomal hydrolase, activator, membrane transporter, or trafficking protein. The common consequence...
34 members
1 criteria block
Coverage 28/101 (27.7%)
Shared Mechanism
Shared Pathway
The macroautophagy deficiency disorders are diseases in which decline or disruption of the macroautophagy machinery impairs lysosomal sequestration and recycling of dysfunctional organelles and aggregated proteins....
6 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Gene Family
Clinical Convention
Mastocytosis is a clonal myeloid neoplasm in which abnormal mast cells accumulate in one or more organ systems, most often driven by a somatic activating KIT mutation (usually D816V in adults, and D816V or an exon...
2 members
1 criteria block
Coverage 2/11 (18.2%)
Shared Mechanism
Shared Pathway
A group of autosomal recessive reproductive disorders caused by defects in the machinery of meiotic prophase I — homolog pairing, synaptonemal complex assembly, and homologous recombination repair of programmed...
4 members
1 criteria block
4 candidates
Shared Mechanism
Shared Phenotype
Clinical Convention
A union of two autosomal recessive syndromes that are clinically almost indistinguishable — congenital microcephaly with intellectual disability, severe proportionate short stature, and autoantibody-negative...
2 members
2 criteria blocks
Coverage 2/2 (100.0%)
Shared Mechanism
Shared Pathway
A group of autosomal recessive mitochondrial disorders caused by defects in nuclear-encoded genes required to build cytochrome c oxidase (complex IV) of the respiratory chain. Most members harbor defects in assembly...
23 members
1 criteria block
1 candidate
Coverage 21/22 (95.5%)
Shared Mechanism
Shared Pathway
Shared Treatment Response
Clinical Convention
A curated grouping of non-small cell lung cancer (NSCLC) Disease entries defined by actionable oncogenic driver alterations. Members share lung adenocarcinoma-predominant NSCLC biology, oncogene addiction, increased...
7 members
1 criteria block
Coverage not assessed
Shared Phenotype
Shared Mechanism
The motor neuron disorders are a clinically recognized group of neurodegenerative diseases unified by the selective degeneration of upper motor neurons (cortical Betz cells and the corticospinal/corticobulbar...
21 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Pathway
The mucolipidoses are lysosomal storage disorders that combine mucopolysaccharide-like and lipid-storage features, but arise from lysosomal hydrolase trafficking, targeting, or endolysosomal membrane-transport...
4 members
1 criteria block
Shared Mechanism
Shared Gene Family
The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficiency of the enzymes that catabolize glycosaminoglycans (GAGs, formerly mucopolysaccharides). Each MPS type results from a...
7 members
1 criteria block
Coverage 7/12 (58.3%)
Shared Phenotype
Shared Mechanism
The necrotizing vasculitides are the systemic and organ-limited vasculitides whose characteristic biopsy appearance is transmural fibrinoid necrosis of the vessel wall: leukocyte recruitment into and through the...
8 members
2 criteria blocks
Coverage not assessed
Shared Mechanism
Shared Pathway
Shared Phenotype
Neural crest melanocyte deficiency disorders are Waardenburg-spectrum neurocristopathies in which upstream transcriptional or endothelin signaling lesions impair melanoblast migration, survival, or differentiation....
2 members
1 criteria block
1 candidate
Shared Mechanism
Shared Phenotype
A group of inherited lysosomal neurodegenerative disorders in which CLN-gene defects disrupt lysosomal enzymes, membrane proteins, endomembrane trafficking, or synaptic/endolysosomal protein handling, producing...
7 members
1 criteria block
Coverage 7/21 (33.3%)
Shared Mechanism
Shared Phenotype
A curated grouping of explicit Niemann-Pick disease entries spanning the acid sphingomyelinase deficiency branch (SMPD1-related types A, A/B, and B) and the cholesterol-trafficking branch (NPC1/NPC2-related type C)....
5 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Phenotype
A curated grouping of explicit osteogenesis imperfecta disease entries spanning classic COL1A1/COL1A2-related type I collagen quantitative and structural disorders, IFITM5-related type V disease, and CRTAP-related...
23 members
1 criteria block
Coverage not assessed
Shared Pathway
This grouping collects rare inherited glycosylation disorders in which the primary lesion is not a single canonical N-glycan assembly enzyme or Golgi processing enzyme, but instead affects nucleotide-sugar precursor...
3 members
1 criteria block
Clinical Convention
Shared Phenotype
Malignant ovarian sex cord-stromal tumor is not a single disease but a curated union of tumors that share an ovarian non-epithelial, non-germ-cell origin from the granulosa, theca, Sertoli, Leydig and stromal...
2 members
1 criteria block
Coverage not assessed
Shared Phenotype
Clinical Convention
Malignant epithelial tumours of the maxillary, ethmoid, frontal and sphenoid sinuses. What holds these tumours together is anatomy and its clinical consequences, not a shared driver: the sinuses are air-filled...
3 members
2 criteria blocks
Coverage not assessed
Shared Mechanism
Shared Phenotype
Parkinsonism dopaminergic degeneration disorders are entries that converge on basal ganglia motor circuit dysfunction with parkinsonism. Members may arise from neurodegenerative synucleinopathy or from...
2 members
1 criteria block
3 candidates
Shared Mechanism
The polyglutamine (polyQ) disorders are a group of dominantly inherited, adult-onset neurodegenerative diseases caused by expansion of a translated CAG trinucleotide repeat that encodes an elongated polyglutamine...
5 members
1 criteria block
Shared Mechanism
Shared Phenotype
IUIS Table 3 — predominantly antibody deficiencies. These inborn errors of immunity feature impaired B-cell differentiation, class-switch recombination, or immunoglobulin secretion, resulting in hypogammaglobulinemia...
4 members
1 criteria block
Shared Mechanism
A group of neurodevelopmental malformations in which defects in centrosome, mitotic-spindle, and associated microtubule machinery disrupt the proliferative divisions of neural progenitors in the developing cortex....
5 members
1 criteria block
Coverage not assessed
Shared Phenotype
Clinical Convention
The progeroid syndromes are hereditary disorders in which a prematurely aged appearance is part of the recognized clinical picture. They are grouped here on that phenotype and on nosological convention, not on a...
7 members
1 criteria block
Coverage 7/16 (43.8%)
Shared Mechanism
Shared Phenotype
Shared Pathway
A curated grouping of the molecularly resolved pure hair and nail ectodermal dysplasia (PHNED) disease entries. Members share a phenotype restricted to two ectodermal appendages - congenital hypotrichosis or alopecia...
3 members
2 criteria blocks
Coverage not assessed
Shared Mechanism
Shared Phenotype
The broad union of curated disorders that reach a single rate-limiting failure — hydroxyapatite is not deposited at the mineralization front — regardless of the route by which they get there. In growing bone that...
9 members
2 criteria blocks
Coverage not assessed
Shared Mechanism
Shared Pathway
The RASopathies are a clinically and genetically heterogeneous group of developmental disorders caused by germline (or, rarely, mosaic) mutations in genes encoding components and regulators of the RAS-MAPK signal...
6 members
1 criteria block
Coverage 6/13 (46.2%)
Shared Phenotype
Clinical Convention
Rhabdomyosarcoma (RMS) is a family of malignant soft-tissue sarcomas unified by skeletal-muscle (rhabdomyoblastic) differentiation: the tumor cells recapitulate arrested myogenesis and express myogenic transcription...
2 members
1 criteria block
Coverage not assessed
Shared Pathway
Shared Mechanism
Robinow syndrome is a genetically heterogeneous skeletal dysplasia defined by a triad of mesomelic limb shortening, genital hypoplasia and a distinctive "fetal face" — macrocephaly, a broad prominent forehead, ocular...
5 members
1 criteria block
Coverage 5/6 (83.3%)
Shared Mechanism
Shared Pathway
Clinical Convention
A grouping for disorders caused by a single large-scale mitochondrial DNA deletion. Members share a primary heteroplasmic mtDNA deletion that impairs mitochondrial translation and oxidative phosphorylation, but they...
2 members
1 criteria block
Shared Mechanism
Shared Pathway
Somatotroph cAMP/PKA pituitary tumor syndromes are growth-hormone-secreting pituitary adenoma or hyperplasia disorders in which distinct genetic lesions converge on increased cAMP availability, cAMP/PKA signaling,...
3 members
1 criteria block
Shared Mechanism
Shared Pathway
A curated union of monogenic neurodevelopmental disorders caused by defects in the presynaptic synaptic vesicle cycle — the trafficking cycle by which neurons load, dock, prime, fuse (Ca2+-triggered, SNARE-mediated),...
10 members
1 criteria block
Shared Mechanism
Shared Pathway
TDP-43 proteinopathies are neurodegenerative disorders whose mechanism graphs include pathological redistribution of TDP-43 from the nucleus to the cytoplasm, cytoplasmic TDP-43 aggregation, and/or nuclear loss of...
3 members
1 criteria block
Shared Mechanism
Shared Gene Family
Shared Phenotype
A curated grouping of explicit thalassemia disease entries caused by inherited reduction or loss of alpha- or beta-globin chain synthesis. Members share globin-chain imbalance, abnormal hemoglobin biosynthesis,...
2 members
1 criteria block
Coverage not assessed
Shared Mechanism
Shared Gene Family
Clinical Convention
The treponematoses are the human diseases caused by the pathogenic treponemes: venereal syphilis (Treponema pallidum subsp. pallidum) and the three non-venereal endemic treponematoses - yaws (T. pallidum subsp....
4 members
1 criteria block
Coverage not assessed
Shared Gene Family
Shared Mechanism
The tubulinopathies are a group of malformations of cortical development caused by dominant variants in the tubulin genes that build the neuronal microtubule cytoskeleton: the alpha- and beta-tubulin isotypes that...
5 members
1 criteria block
Coverage 2/4 (50.0%)
Shared Mechanism
The Mendelian cancer predisposition syndromes in which a constitutional heterozygous tumor-suppressor lesion is carried by every somatic cell, and tumors arise where a stochastic somatic second event removes the...
21 members
1 criteria block
Coverage not assessed
Shared Gene Family
Shared Pathway
The type II collagenopathies are a spectrum of skeletal dysplasias and connective-tissue disorders caused by pathogenic variants in COL2A1, the gene encoding the alpha-1 chain of type II collagen — the principal...
6 members
1 criteria block
Coverage not assessed
Shared Pathway
The vitamin D-dependent rickets (VDDR) are a small named series in which rickets arises because vitamin D activation, signaling, or metabolite handling fails while dietary intake and sunlight exposure are adequate....
5 members
2 criteria blocks
Coverage 5/7 (71.4%)