Muscular dystrophy, congenital, with cataracts and impaired intellectual development

Preferred Label : Muscular dystrophy, congenital, with cataracts and impaired intellectual development;

Symbol : MDCCAID;

CISMeF acronym : MDCCAID;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the inositol polyphosphate-5-phosphatase K gene (INPP5K, 607875.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #617404;

Details

Origin ID

617404;

UMLS CUI

C4479410;

Automatic exact mappings (from CISMeF team)
- congenital muscular dystrophy with cataracts and intellectual disability [DO Concept]
DO Cross reference
- congenital muscular dystrophy with cataracts and intellectual disability [DO Concept]
Genes related to phenotype
- Inositol polyphosphate-5-phosphatase k [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Gait disturbance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Gowers sign [HPO term]
- Hyperlordosis [HPO term]
- Increased adipose tissue [HPO term]
- Intellectual disability [HPO term]
- Lower limb spasticity [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Progressive [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spinal rigidity [HPO term]
- Strabismus [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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