ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
35 signs/symptoms

Pelizaeus-Merzbacher-like due to HSPD1 mutation

Gaucher disease type 1

HSPD1	(UniProt - OMIM)		GBA	(UniProt - OMIM)
			SCARB2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPD1	(0.49)	SCARB2

Citations in the biomedical literature:

Pelizaeus-Merzbacher-like due to HSPD1 mutation		Gaucher disease type 1
	Synonym(s): - Mitochondrial HSP60 chaperonopathy		Synonym(s): - Non-cerebral juvenile Gaucher disease

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare respiratory disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive

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

Gaucher disease type 1
	Very frequent - Asthenia / fatigue / weakness - Bone pain - Delayed bone age - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatomegaly / liver enlargement (excluding storage disease) - Late puberty / hypogonadism / hypogenitalism - Mutiple fractures / bone fragility - Osteolysis / osteoclasia / bone destruction / erosions - Osteonecrosis / bone infarction - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Osteosclerosis / osteopetrosis / bone condensation - Splenomegaly - Thrombocytopenia / thrombopenia Frequent - Acute abdominal pain / colic - Anaemia - Bone marrow failure / pancytopenia - Bruisability - Gingivorrhagia / gingival bleeding - Kyphosis Occasional - Ascitis - Biliary / gallbladder stones / lithiasis / cholecystitis - Cirrhosis - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Edema of the legs / lower limbs - Hematuria / microhematuria - Hepatitis / icterus / cholestasis - Hypergammaglobulinemia - Interstitial / restrictive pneumopathy / restrictive respiratory syndrome - Leukopenia / hypoleukocytosis - Monoclonal immunoglobulins / gammapathy / dysglobulinemia - Myocardium anomalies / myocarditis - Osteoarthritis - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Proteinuria - Pulmonary hypertension
Pelizaeus-Merzbacher-like due to HSPD1 mutation
(no data available)