Congenital disorder of glycosylation, type iit

Preferred Label : Congenital disorder of glycosylation, type iit;

Symbol : CDG2T;

CISMeF acronym : CDG2T;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg iit; CDGIIt;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the UDP-N-acetyl-alpha-D-galactosamine polypeptide:N-acetylgalactosaminyltransferase 2 (GALNT2, 602274.0001);

Laboratory abnormalities : Iron-deficiency anemia; Decreased HDL cholesterol Decreased fasting triglycerides; Non-glycosylation of ApoC-II in patient plasma; Low vitamin D;

Prefixed ID : #618885;

Details

Origin ID

618885;

UMLS CUI

C5394387;

Genes related to phenotype
- Udp-n-acetyl-alpha-D-galactosamine:polypeptide n-acetylgalactosaminyltransferase 2 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormal protein O-linked glycosylation [HPO term]
- Alternating exotropia [HPO term]
- Astigmatism [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Conductive hearing impairment [HPO term]
- Constipation [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Decreased serum creatinine [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Hypotriglyceridemia [HPO term]
- Insomnia [HPO term]
- Intellectual disability, severe [HPO term]
- Iron deficiency anemia [HPO term]
- Long face [HPO term]
- Low levels of vitamin D [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Microcephaly [HPO term]
- Multifocal seizures [HPO term]
- Nystagmus [HPO term]
- Pineal cyst [HPO term]
- Poor eye contact [HPO term]
- Prominent nasal bridge [HPO term]
- Sandal gap [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Tented upper lip vermilion [HPO term]
- Thick vermilion border [HPO term]
- Urinary incontinence [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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