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Hashimoto-Pritzker syndrome
1 associated gene
22 signs/symptoms
PROTEIN INTERACTIONS: 1
17p13.3 microduplication syndrome
1 OMIM reference -
2 associated genes
19 signs/symptoms
Hashimoto-Pritzker syndrome
17p13.3 microduplication syndrome

BRAF
(UniProt - OMIM)
 PAFAH1B1
(UniProt - OMIM)
YWHAE
(UniProt - OMIM)

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


Citations in the biomedical literature:


Hashimoto-Pritzker syndrome
BRAF
17p13.3 microduplication syndrome
PAFAH1B1 YWHAE



Hashimoto-Pritzker syndrome
17p13.3 microduplication syndrome

Synonym(s):
- Congenital Langerhans cell histiocytosis
Synonym(s):
- 17p13.3 duplication syndrome
- Dup(17)(p13.3)
- Trisomy 17p13.3
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
1 MeSH reference: C535843
External references:
1 OMIM reference -
No MeSH references
Hashimoto-Pritzker syndrome
17p13.3 microduplication 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


Very frequent
- Broad nose / nasal bridge
- Frontal bossing / prominent forehead
- High forehead
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microstomia / little mouth
- Short / small nose

Frequent
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Low set ears / posteriorly rotated ears
- Short neck

Occasional
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Inguinal / inguinoscrotal / crural hernia
- Micropenis / small penis / agenesis
- Tall stature / gigantism / growth acceleration