Osteopetrosis, autosomal recessive 7

Preferred Label : Osteopetrosis, autosomal recessive 7;

Symbol : OPTB7;

CISMeF acronym : OPTB7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteopetrosis, osteoclast-poor, with hypogammaglobulinemia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tumor necrosis factor receptor superfamily, member 11A gene (TNFRSF11A, 603499.0003);

Laboratory abnormalities : Hypocalcemia;

Prefixed ID : #612301;

Details

Origin ID

612301;

UMLS CUI

C2676766;

Automatic exact mappings (from CISMeF team)
- TNFRSF11A wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Osteopetrosis - hypogammaglobulinaemia [ICD-11 More detail]
- Osteopetrosis hypogammaglobulinemia syndrome (disorder) [SNOMED CT concept]
- Osteopetrosis-hypogammaglobulinemia syndrome [ORDO Disease]
- autosomal recessive osteopetrosis 7 [DO Concept]
- osteopetrosis, autosomal recessive 7 [MeSH concept]
- osteopetrosis, autosomal recessive 7 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive osteopetrosis 7 [DO Concept]
Genes related to phenotype
- Tumor necrosis factor receptor superfamily, member 11a [OMIM gene]
HPO term(s)
- Abnormal trabecular bone morphology [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in childhood [HPO term]
- Death in infancy [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Dilation of lateral ventricles [HPO term]
- Femur fracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hepatomegaly [HPO term]
- Hydrocephalus [HPO term]
- Hypocalcemic seizures [HPO term]
- Increased head circumference [HPO term]
- Infantile onset [HPO term]
- Motor delay [HPO term]
- Multiple rib fractures [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Optic nerve compression [HPO term]
- Osteopetrosis [HPO term]
- Progressive visual loss [HPO term]
- Proptosis [HPO term]
- Recurrent pneumonia [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Osteopetrosis-hypogammaglobulinemia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteopetrosis - hypogammaglobulinaemia [ICD-11 More detail]
- Osteopetrosis-hypogammaglobulinemia syndrome [ORDO Disease]
- autosomal recessive osteopetrosis 7 [DO Concept]
- osteopetrosis, autosomal recessive 7 [MeSH Supplementary Concept]
- osteopetrosis, autosomal recessive 7 [MeSH concept]

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