ODCs

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2 OMIM references -
1 associated gene
22 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Osteopetrosis with renal tubular acidosis

Pelizaeus-Merzbacher-like due to HSPD1 mutation


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CA2	(0.89)	HSPD1

Citations in the biomedical literature:

Osteopetrosis with renal tubular acidosis		Pelizaeus-Merzbacher-like due to HSPD1 mutation
	Synonym(s): - Carbonic anhydrase 2 deficiency - Guibaud-Vainsel syndrome - Marble brain disease - Mixed RTA - Mixed renal tubular acidosis - Renal tubular acidosis type 3		Synonym(s): - Mitochondrial HSP60 chaperonopathy

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 2 OMIM references - 1 MeSH reference: C536058		External references: 1 OMIM reference - No MeSH references

Osteopetrosis with renal tubular acidosis
	Very frequent - Anaemia - Autosomal recessive inheritance - Bone pain - Epiphyseal anomaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Genu valgum - Hepatomegaly / liver enlargement (excluding storage disease) - Intellectual deficit / mental / psychomotor retardation / learning disability - Mutiple fractures / bone fragility - Osteonecrosis / bone infarction - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Osteosclerosis / osteopetrosis / bone condensation - Renal tubular defect / tubulopathy - Splenomegaly Frequent - Intracranial / cerebral calcifications - Multiple caries - Peripheral neuropathy - Prognathism / prognathia - Thrombocytopenia / thrombopenia - Tooth shape anomaly Occasional - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Visual loss / blindness / amblyopia
Pelizaeus-Merzbacher-like due to HSPD1 mutation
(no data available)