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Hashimoto-Pritzker syndrome
1 associated gene
20 connected diseases
22 signs/symptoms
Disease Type of connection
Cardiofaciocutaneous syndrome
LEOPARD syndrome
Noonan syndrome
Pilocytic astrocytoma
Craniopharyngioma
Hairy cell leukemia
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Costello syndrome
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Miller-Dieker syndrome
Williams syndrome
Cowden syndrome
Proteus syndrome
Herpetic encephalitis
Distal 22q11.2 microdeletion syndrome
Synonym(s):
- Congenital Langerhans cell histiocytosis
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
(no data available)
External references:
No OMIM references
1 MeSH reference: C535843
Gene symbol UniProt reference OMIM reference
BRAF P15056164757
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