Krabbe disease, atypical, due to saposin a deficiency

Preferred Label : Krabbe disease, atypical, due to saposin a deficiency;

Symbol : KRBSAPA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Saposin a deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the prosaposin gene (PSAP, 176801.0009).;

Laboratory abnormalities : Decreased activity of galactocerebrosidase; Saposin A deficiency;

Prefixed ID : #611722;

Détails

Origin ID

611722;

UMLS CUI

C2673266;

Currated CISMeF NLP mapping
- krabbe disease, atypical, due to saposin A deficiency [MeSH concept]
- krabbe disease, atypical, due to saposin A deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Prosaposin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Central apnea [HPO term]
- Cerebral dysmyelination [HPO term]
- Death in infancy [HPO term]
- Early death [HPO term]
- Feeding difficulties [HPO term]
- Global brain atrophy [HPO term]
- Hyperintensity of cerebral white matter on MRI [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hyporeflexia [HPO term]
- Increased CSF protein [HPO term]
- Infantile onset [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Progressive neurologic deterioration [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Tonic seizure [HPO term]
- Vegetative state [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Krabbe disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- krabbe disease, atypical, due to saposin A deficiency [MeSH Supplementary Concept]
- krabbe disease, atypical, due to saposin A deficiency [MeSH concept]

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