DCHS1

dachsous cadherin-related 1

4 disorders 2 no genetic record 2 causative 11p15.4 gene with protein product

HGNC:13681 Monarch NCBI Gene 8642 ENSG00000166341 UniProt Q96JQ0 OMIM 603057

Previous symbols: CDH25, PCDH16. Aliases: FIB1, KIAA1773, FLJ11790, CDHR6.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Mitral Valve Prolapse	causative	mechanism: Valve Developmental and Cytoskeletal Gene Lesion
Van Maldergem Syndrome	causative germline loss of function	mechanism: Loss of DCHS1-FAT4 Cadherin Pair Function subtype: VMS1
Hennekam lymphangiectasia-lymphedema syndrome 2	no genetic record	mechanism: Impaired lymphatic valve morphogenesis
Periventricular Nodular Heterotopia	no genetic record	mechanism: Radial Glial Apical Attachment and Vesicle-Trafficking Failure

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
congenital heart disease MONDO:0005453	AD	Disputed 2024-04-02	Congenital Heart Disease not named
van Maldergem syndrome MONDO:0017813	AR	Moderate 2024-07-02	Van Maldergem Syndrome causative

Mechanism modules · computed from kb/

apical_neuroependyma_integrity_failure via Periventricular Nodular Heterotopia named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.