Osteopetrosis, autosomal recessive 5

Preferred Label : Osteopetrosis, autosomal recessive 5;

Symbol : OPTB5;

CISMeF acronym : OPTB5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteopetrosis, infantile malignant 3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the osteopetrosis associated transmembrane protein 1 gene (OSTM1, 607649.0001);

Laboratory abnormalities : Hyperbilirubinemia; Elevated serum aspartate-aminotranferase (AST); Elevated serum lactate dehydrogenase (LDH); Elevated serum alanine-aminotransferase (ALT); Hypocalcemia, mild;

Prefixed ID : #259720;

Détails

Origin ID

259720;

UMLS CUI

C1968603;

Broader ORDO disease(s)
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive osteopetrosis 5 [DO Concept]
- osteopetrosis, autosomal recessive 5 [MeSH concept]
- osteopetrosis, autosomal recessive 5 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive osteopetrosis 5 [DO Concept]
Genes related to phenotype
- Osteopetrosis-associated transmembrane protein 1 [OMIM gene]
HPO term(s)
- Abnormality of the coagulation cascade [HPO term]
- Absence of renal corticomedullary differentiation [HPO term]
- Anemia [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Clonus [HPO term]
- Cranial hyperostosis [HPO term]
- Decreased osteoclast count [HPO term]
- Extramedullary hematopoiesis [HPO term]
- Facial palsy [HPO term]
- Flared metaphysis [HPO term]
- Generalized hypotonia [HPO term]
- Generalized-onset seizure [HPO term]
- Gingival overgrowth [HPO term]
- Growth delay [HPO term]
- Hepatic failure [HPO term]
- Hepatomegaly [HPO term]
- Hydrocephalus [HPO term]
- Hyperbilirubinemia [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypocalcemia [HPO term]
- Hypochromic microcytic anemia [HPO term]
- Increased bone mineral density [HPO term]
- Irritability [HPO term]
- Leukocytosis [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Mydriasis [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Optic disc pallor [HPO term]
- Osteopetrosis [HPO term]
- Pancytopenia [HPO term]
- Proptosis [HPO term]
- Respiratory failure [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spastic tetraplegia [HPO term]
- Splenomegaly [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Thrombocytopenia [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Infantile osteopetrosis with neuroaxonal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive osteopetrosis 5 [DO Concept]
- osteopetrosis, autosomal recessive 5 [MeSH Supplementary Concept]
- osteopetrosis, autosomal recessive 5 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive malignant osteopetrosis [ORDO Disease]

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