Congenital disorder of glycosylation, type iq

Preferred Label : Congenital disorder of glycosylation, type iq;

Symbol : CDG1Q;

CISMeF acronym : CDG1Q;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg iq; CDGIq; Coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the steroid 5-alpha-reductase 3 gene (SRD5A3, 611715.0001);

Laboratory abnormalities : Abnormal isoelectric focusing of serum transferrin (type 1 pattern); Elevated transaminases;

Prefixed ID : #612379;

Details

Origin ID

612379;

UMLS CUI

C4317224;

Automatic exact mappings (from CISMeF team)
- SRD5A3 wt Allele [NCIt concept]
- coloboma, ocular, and ichthyosis, brain malformations, and endocrine abnormalities [MeSH concept]
Currated CISMeF NLP mapping
- Al-Gazali-Dattani syndrome [ORDO Disease]
- Congenital disorder of glycosylation type 1q (disorder) [SNOMED CT concept]
- SRD5A3-CDG [ORDO Disease]
- coloboma, ocular, and ichthyosis, brain malformations, and endocrine abnormalities [MeSH Supplementary Concept]
- congenital disorder of glycosylation Iq [DO Concept]
DO Cross reference
- congenital disorder of glycosylation Iq [DO Concept]
Genes related to phenotype
- Steroid 5-alpha-reductase 3 [OMIM gene]
HPO term(s)
- Abnormality of skin pigmentation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Coloboma [HPO term]
- Cutis laxa [HPO term]
- Depressed nasal bridge [HPO term]
- Eczema [HPO term]
- Elevated hepatic transaminase [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Hyperkeratosis [HPO term]
- Hypertelorism [HPO term]
- Hypertrichosis [HPO term]
- Hypotonia [HPO term]
- Ichthyosis [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Microcytic anemia [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Polymicrogyria [HPO term]
- Reduced antithrombin III activity [HPO term]
- Type I transferrin isoform profile [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Al-Gazali-Dattani syndrome [ORDO Disease]
- SRD5A3-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Al-Gazali-Dattani syndrome [ORDO Disease]
- Congenital disorder of glycosylation type 1q (disorder) [SNOMED CT concept]
- SRD5A3-CDG [ORDO Disease]
- coloboma, ocular, and ichthyosis, brain malformations, and endocrine abnormalities [MeSH concept]
- coloboma, ocular, and ichthyosis, brain malformations, and endocrine abnormalities [MeSH Supplementary Concept]

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