Congenital disorder of glycosylation, type iim

Preferred Label : Congenital disorder of glycosylation, type iim;

Symbol : CDG2M;

CISMeF acronym : CDG2M; EIEE22;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 22; Cdg iim; EIEE22; CDGIIm; Developmental and epileptic encephalopathy 22; DEE22;

Inheritance : X-linked dominant; Somatic mosaicism (in males);

Molecular basis : Caused by mutation in the solute carrier family 35 (UDP-galactose transporter), member 2 gene (SLC35A2, 314375.0001);

Laboratory abnormalities : Loss of galactose and sialic acid from multiple branches of complex type N-glycans (in some patients); Abnormal serum transferrin pattern (in some patients);

Prefixed ID : #300896;

Details

Origin ID

300896;

UMLS CUI

C3806688;

Currated CISMeF NLP mapping
- SLC35A2-CDG [ORDO Disease]
- Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type IIm [DO Concept]
DO Cross reference
- congenital disorder of glycosylation type IIm [DO Concept]
Genes related to phenotype
- Solute carrier family 35 (udp-galactose transporter), member 2 [OMIM gene]
HPO term(s)
- Abnormal isoelectric focusing of serum transferrin [HPO term]
- Absent speech [HPO term]
- Atrial septal defect [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Coarse facial features [HPO term]
- Delayed CNS myelination [HPO term]
- Dilation of lateral ventricles [HPO term]
- Enamel hypoplasia [HPO term]
- Enlarged cisterna magna [HPO term]
- Epicanthus [HPO term]
- Epileptic encephalopathy [HPO term]
- Epileptic spasm [HPO term]
- Exaggerated cupid's bow [HPO term]
- Full cheeks [HPO term]
- Fused teeth [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypertension [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Neonatal hyperbilirubinemia [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Ocular flutter [HPO term]
- Oligohydramnios [HPO term]
- Open mouth [HPO term]
- Poor head control [HPO term]
- Recurrent infections [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Somatic mosaicism [HPO term]
- Thick eyebrow [HPO term]
- Thick vermilion border [HPO term]
- Ureteropelvic junction obstruction [HPO term]
- Vesicovaginal fistula [HPO term]
- Wide nasal bridge [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- SLC35A2-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SLC35A2-CDG [ORDO Disease]
- Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) [SNOMED CT concept]

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