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Phakomatosis pigmentokeratotica
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hashimoto-Pritzker syndrome
1 associated gene
22 signs/symptoms
Phakomatosis pigmentokeratotica
Hashimoto-Pritzker syndrome

HRAS
(UniProt - OMIM)
 BRAF
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HRAS
(0.78)
BRAF


Citations in the biomedical literature:


Phakomatosis pigmentokeratotica
HRAS
Hashimoto-Pritzker syndrome
BRAF



Phakomatosis pigmentokeratotica
Hashimoto-Pritzker syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Congenital Langerhans cell histiocytosis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
(no data available)
External references:
No OMIM references
1 MeSH reference: C537893
External references:
No OMIM references
1 MeSH reference: C535843
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


Phakomatosis pigmentokeratotica

(no data available)