Congenital disorder of glycosylation, type ip

Preferred Label : Congenital disorder of glycosylation, type ip;

Symbol : CDG1P;

CISMeF acronym : CDG1P;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the S. cerevisiae Alg11 gene (ALG11, 613666.0001);

Laboratory abnormalities : Abnormal isoelectric focusing of serum transferrin (type 1 pattern); Increased di- and asialo-transferrin; Decreased tetrasialo-transferrin; Accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts;

Prefixed ID : #613661;

Details

Origin ID

613661;

UMLS CUI

C3150913;

Automatic exact mappings (from CISMeF team)
- SRD5A3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- ALG11 congenital disorder of glycosylation [ICD-11 More detail]
- ALG11-CDG [ORDO Disease]
- Congenital disorder of glycosylation type 1p (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation Ip [DO Concept]
DO Cross reference
- congenital disorder of glycosylation Ip [DO Concept]
Genes related to phenotype
- Alg11 alpha-1,2-mannosyltransferase [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Infantile onset [HPO term]
- Inverted nipples [HPO term]
- Microcephaly [HPO term]
- Neonatal hypotonia [HPO term]
- Opisthotonus [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Strabismus [HPO term]
- Temperature instability [HPO term]
- Type I transferrin isoform profile [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- ALG11-CDG [ORDO Disease]
See also inter- (CISMeF)
- ALG11 alpha-1,2-mannosyltransferase [ORDO Gene]
- ALG11 alpha-1,2-mannosyltransferase [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation type 1p (disorder) [SNOMED CT concept]

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