ODCs

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1 associated gene
22 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Hashimoto-Pritzker syndrome

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BRAF	(0.72)	PHKB

Citations in the biomedical literature:

Hashimoto-Pritzker syndrome		Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
	Synonym(s): - Congenital Langerhans cell histiocytosis		Synonym(s): - GSD due to liver and muscle phosphorylase kinase deficiency - GSD type 9B - GSD type IXb - Glycogen storage disease type 9B - Glycogen storage disease type IXb - Glycogenosis due to liver and muscle phosphorylase kinase deficiency - Glycogenosis type 9B - Glycogenosis type IXb

	Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease - Rare respiratory disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare neurologic disease

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive

	External references: No OMIM references 1 MeSH reference: C535843		External references: 1 OMIM reference - No MeSH references

Hashimoto-Pritzker syndrome
	Very frequent - Follicular / erythematous / edematous papules / milium - Macules - Osteolysis / osteoclasia / bone destruction / erosions - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Bronchogenic cyst - Enanthema / aphtosa / aphta / leukoplakia Occasional - Abnormal hepatic enzymes / transaminases - Acute leukemia - Ataxia / incoordination / trouble of the equilibrium - Bone marrow failure / pancytopenia - Cranial nerves palsy - Elocution disorders / dysarthria / dysphonia - Gallbladder / common bile duct anomalies - Hepatitis / icterus / cholestasis - Hepatocellular liver disease / hepatic failure - Hepatomegaly / liver enlargement (excluding storage disease) - Lymphadenopathy / polyadenopathies - Lymphoma - Nystagmus - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Osteosclerosis / osteopetrosis / bone condensation - Splenomegaly
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
(no data available)