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Hashimoto-Pritzker syndrome
1 associated gene
22 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Miller-Dieker syndrome
1 OMIM reference -
3 associated genes
18 signs/symptoms
Hashimoto-Pritzker syndrome
Miller-Dieker syndrome

BRAF
(UniProt - OMIM)
 HIC1
(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
Miller-Dieker syndrome
HIC1 PAFAH1B1 YWHAE



Hashimoto-Pritzker syndrome
Miller-Dieker syndrome

Synonym(s):
- Congenital Langerhans cell histiocytosis
Synonym(s):
- Lissencephaly due to 17p13.3 deletion
- Monosomy 17p13.3
- Telomeric deletion 17p
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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
1 MeSH reference: C535843
External references:
1 OMIM reference -
1 MeSH reference: D054221
COMMON
SIGNS 		- Ataxia / incoordination / trouble of the equilibrium

Hashimoto-Pritzker syndrome
Miller-Dieker 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
- 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
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of mouth, lip and philtrum
- Anteverted nares / nostrils
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High forehead
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose

Frequent
- Polyhydramnios
- Structural anomalies of the cardio-circulatory system

Occasional
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Omphalocele / exomphalos
- Renal disease / nephropathy
- Sacral sinus / dimple