Osteopetrosis, autosomal dominant 3

Preferred Label : Osteopetrosis, autosomal dominant 3;

Symbol : OPTA3;

CISMeF acronym : OPTA3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the member 1, family M, pleckstrin homology domain-containing protein gene (PLEKHM1, 611466.0002);

Laboratory abnormalities : Elevated acid phosphatase;

Prefixed ID : #618107;

Details

Origin ID

618107;

UMLS CUI

C4748197;

Genes related to phenotype
- Pleckstrin homology domain-containing protein, family M, member 1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Asthenia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Fatigue [HPO term]
- Gingivitis [HPO term]
- Hepatomegaly [HPO term]
- Hyperparathyroidism [HPO term]
- Osteopenia [HPO term]
- Pectus carinatum [HPO term]
- Premature loss of teeth [HPO term]
- Recurrent fractures [HPO term]
- Splenomegaly [HPO term]
- Thickened calvaria [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients