Osteopetrosis, autosomal recessive 3

Preferred Label : Osteopetrosis, autosomal recessive 3;

Symbol : OPTB3;

CISMeF acronym : OPTB3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteopetrosis with renal tubular acidosis; Marble brain disease; Carbonic anhydrase II deficiency; Guibaud-vainsel syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in carbonic anhydrase II gene (CA2, 611492.0004);

Laboratory abnormalities : Hypokalemia; Urine pH 6.5; Carbonic anhydrase II deficiency;

Prefixed ID : #259730;

Details

Origin ID

259730;

UMLS CUI

C0345407;

Currated CISMeF NLP mapping
- Osteopetrosis with Renal Tubular Acidosis [NCIt concept]
- Osteopetrosis with renal tubular acidosis [ORDO Disease]
- Osteopetrosis with renal tubular acidosis [ICD-11 More detail]
- Osteopetrosis with renal tubular acidosis [MeSH concept]
- Osteopetrosis with renal tubular acidosis (disorder) [SNOMED CT concept]
- autosomal recessive osteopetrosis 3 [DO Concept]
- osteopetrosis with renal tubular acidosis [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive osteopetrosis 3 [DO Concept]
Genes related to phenotype
- Carbonic anhydrase II [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Cranial hyperostosis [HPO term]
- Dental malocclusion [HPO term]
- Diaphyseal sclerosis [HPO term]
- Distal renal tubular acidosis [HPO term]
- Elevated serum acid phosphatase [HPO term]
- Extramedullary hematopoiesis [HPO term]
- Hepatosplenomegaly [HPO term]
- Intellectual disability [HPO term]
- Optic nerve compression [HPO term]
- Osteopetrosis [HPO term]
- Periodic hypokalemic paresis [HPO term]
- Short stature [HPO term]
- Visual impairment [HPO term]
- Visual impairment from optic nerve compression [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Osteopetrosis with renal tubular acidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteopetrosis with Renal Tubular Acidosis [NCIt concept]
- Osteopetrosis with renal tubular acidosis [MeSH concept]
- Osteopetrosis with renal tubular acidosis [ICD-11 More detail]
- Osteopetrosis with renal tubular acidosis (disorder) [SNOMED CT concept]
- autosomal recessive osteopetrosis 3 [DO Concept]
- osteopetrosis with renal tubular acidosis [MeSH Supplementary Concept]

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