Pontocerebellar hypoplasia, type 13

Preferred Label : Pontocerebellar hypoplasia, type 13;

Symbol : PCH13;

CISMeF acronym : PCH13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the vacuolar protein sorting 51, S. Cerevisiae, homolog of, gene (VPS51, 615738.0001);

Laboratory abnormalities : Hypoglycosylation of serum transferrin (patient A); Abnormal liver enzymes (patient A);

Prefixed ID : #618606;

Details

Origin ID

618606;

UMLS CUI

C5231425;

Automatic exact mappings (from CISMeF team)
- Pontocerebellar hypoplasia type 13 [ORDO Disease]
Genes related to phenotype
- Vps51 subunit of garp complex [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cerebral visual impairment [HPO term]
- Clubbing [HPO term]
- Constipation [HPO term]
- Dandy-Walker malformation [HPO term]
- Decreased liver function [HPO term]
- Delayed ability to sit [HPO term]
- Dilation of lateral ventricles [HPO term]
- Edema [HPO term]
- Enlarged cisterna magna [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the pons [HPO term]
- Hypoplastic hippocampus [HPO term]
- Inability to walk [HPO term]
- Long eyelashes [HPO term]
- Low posterior hairline [HPO term]
- Macrodontia [HPO term]
- Microcephaly [HPO term]
- Overfolded helix [HPO term]
- Pleural effusion [HPO term]
- Recurrent respiratory infections [HPO term]
- Severe global developmental delay [HPO term]
- Short philtrum [HPO term]
- Single transverse palmar crease [HPO term]
- Sleep apnea [HPO term]
- Status epilepticus [HPO term]
- Strabismus [HPO term]
- Thick upper lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Volvulus [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 13 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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