Osteopetrosis, autosomal dominant 2

Preferred Label : Osteopetrosis, autosomal dominant 2;

Symbol : OPTA2;

CISMeF acronym : OPTA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Marble bones, autosomal dominant; Albers-schonberg disease, autosomal dominant; Osteosclerosis fragilis generalisata; Osteopetrosis, autosomal dominant, type II;

Description : Autosomal dominant osteopetrosis type II is characterized by sclerosis, predominantly involving the spine, the pelvis, and the skull base. Fragility of bones and dental abscess are leading complications. Autosomal dominant osteopetrosis type I (OPTA1; 607634) is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chloride channel 7 gene (CLCN7, 602727.0004);

Laboratory abnormalities : Elevated serum acid phosphatase;

Prefixed ID : #166600;

Details

Origin ID

166600;

UMLS CUI

C3179239;

Automatic exact mappings (from CISMeF team)
- Autosomal Dominant Osteopetrosis [NCIt concept]
- CLCN7 wt Allele [NCIt concept]
- chloride voltage-gated channel 7 [ORDO Gene]
- chloride voltage-gated channel 7 [HGNC gene]
Currated CISMeF NLP mapping
- Albers Schoenberg disease [Disease (Nov.)]
- Albers-Schonberg disease [MedDRA LLT]
- Albers-Schönberg osteopetrosis [ORDO Disease]
- Autosomal dominant osteopetrosis type 2 [ICD-11 More detail]
- Autosomal dominant osteopetrosis type 2 (disorder) [SNOMED CT concept]
- Osteopetrosis [PASCAL descriptor]
- Osteopetrosis [NCIt concept]
- Osteopetrosis [MedDRA Preferred Term]
- Osteopetrosis [ICD-10 Sub-category]
- Osteopetrosis [ICD-10 Sub-category (who)]
- Osteopetrosis [HPO term]
- Osteopetrosis (disorder) [SNOMED CT concept]
- Osteopetrosis and related disorders [ORDO Disease]
- autosomal dominant osteopetrosis 2 [DO Concept]
- infantile malignant osteopetrosis [SNOMED Notion]
- osteopetrosis [MeSH Descriptor]
- osteopetrosis [MeSH concept]
- osteopetrosis autosomal dominant type 2 [MeSH concept]
- osteopetrosis, nos [SNOMED Notion]
DO Cross reference
- autosomal dominant osteopetrosis 2 [DO Concept]
Genes related to phenotype
- Chloride channel 7 [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Abnormality of the vertebral endplates [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Elevated serum acid phosphatase [HPO term]
- Facial palsy [HPO term]
- Facial paralysis [HPO term]
- Fractures of the long bones [HPO term]
- Generalized osteosclerosis [HPO term]
- Heterogeneous [HPO term]
- Hip osteoarthritis [HPO term]
- Juvenile onset [HPO term]
- Mandibular osteomyelitis [HPO term]
- Osteopetrosis [HPO term]
- Recurrent fractures [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Albers-Schönberg osteopetrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albers-Schönberg osteopetrosis [ORDO Disease]
- Autosomal dominant osteopetrosis type 2 (disorder) [SNOMED CT concept]
- autosomal dominant osteopetrosis 2 [DO Concept]
- osteopetrosis autosomal dominant type 2 [MeSH concept]

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