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IEMbase 0605: ALG13-related UDP-N-acetylglucosamine transferase deficiency

Scope

Field Value
IEMbase ID 605
Nosology 18.1.04.01
Gene ALG13
External IDs OMIM:300884; ORPHA:324422
Generated mapping UNMAPPED; best candidate Undetermined_Early_Onset_Epileptic_Encephalopathy.yaml#DEE13
Candidate DisMech targets None exact
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents ALG13-related UDP-N-acetylglucosamine transferase catalytic subunit deficiency, labelled ALG13-CDG, early infantile epileptic encephalopathy-36, and CDG-Is. The record is X-linked recessive, classified under disorders of N-glycosylation, has unknown treatability, and has no treatment rows.

Biochemical rows include normal-to-increased asialotransferrin and disialotransferrin, decreased-to-normal tetrasialotransferrin, normal dolichol-linked GlcNAc1, and normal-to-increased thromboplastin time. Clinical rows include refractory epilepsy, intellectual disability, developmental regression, extrapyramidal and pyramidal signs, delayed visual maturation, feeding difficulties, microcephaly, hepatomegaly, broad coarse face, hypertelorism, low-set ears, retromicrognathia, and dysmorphic features.

DisMech phenotype coverage

Undetermined_Early_Onset_Epileptic_Encephalopathy.yaml#DEE13 is a weak false-positive generated candidate. It provides an epileptic-encephalopathy neighborhood but does not represent ALG13, X-linked CDG-Is, UDP-N-acetylglucosamine transferase deficiency, transferrin abnormalities, or the ALG13-specific dysmorphic and hepatic phenotype.

Local UGDH/UGP2 developmental and epileptic encephalopathy entries are also mechanistic neighbors only. No exact ALG13-CDG / EIEE36 target was identified.

Concordance and completeness

Judgement: true local gap; reject the generic DEE candidate.

The generated candidate is driven by refractory early epilepsy, but IEMbase anchors a specific N-glycosylation disorder. Disease identity, gene, inheritance, pathway, and biochemical readouts do not match local DEE coverage.

Curation actions

  • Create or identify an exact ALG13-CDG / EIEE36 / CDG-Is target before import.
  • Reject Undetermined_Early_Onset_Epileptic_Encephalopathy.yaml#DEE13 as an exact mapping.
  • Preserve transferrin isoform pattern, dolichol-linked GlcNAc1, thromboplastin time, refractory epilepsy, developmental regression, extrapyramidal/pyramidal signs, delayed visual maturation, feeding difficulty, microcephaly, hepatomegaly, and facial-dysmorphism prompts.