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Hashimoto-Pritzker syndrome
1 associated gene
22 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
LEOPARD syndrome
3 OMIM references -
3 associated genes
47 signs/symptoms
Hashimoto-Pritzker syndrome
LEOPARD syndrome

BRAF
(UniProt - OMIM)
 BRAF
(UniProt - OMIM)
PTPN11
(UniProt - OMIM)
RAF1
(UniProt - OMIM)

COMMON
GENES 		BRAF
INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BRAF
(0.87)
RAF1


Citations in the biomedical literature:


Hashimoto-Pritzker syndrome
BRAF
LEOPARD syndrome
PTPN11 RAF1



Hashimoto-Pritzker syndrome
LEOPARD syndrome

Synonym(s):
- Congenital Langerhans cell histiocytosis
Synonym(s):
- Cardiomyopathic lentiginosis
- Familial multiple lentigines syndrome
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin 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: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
1 MeSH reference: C535843
External references:
3 OMIM references -
2 MeSH references: C537116 / D044542
COMMON
SIGNS 		- Subcutaneous nodules / lipomas / tumefaction / swelling

Hashimoto-Pritzker syndrome
LEOPARD syndrome

Very frequent
- Follicular / erythematous / edematous papules / milium
- Macules
- Osteolysis / osteoclasia / bone destruction / erosions

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
- Autosomal dominant inheritance
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cardiac rhythm disorder / arrhythmia
- Excessive freckling
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperelastic skin / cutaneous hyperlaxity
- Hypertelorism
- Intrauterine growth retardation
- Myelodysplastic syndrome
- Pigmented naevi / naevus pigmentosus / lentigo
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Pulmonary valve atresia / stenosis / narrowing
- Sensorineural deafness / hearing loss
- Structural anomalies of the genital system

Frequent
- Anomalies of ear and hearing
- Atrioventricular canal
- Broad nose / nasal bridge
- Cardiomyopathy / hypertrophic / dilated
- Congenital cardiac anomaly / malformation / cardiopathy
- Face / facial anomalies
- Low set ears / posteriorly rotated ears
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Pectus carinatum
- Pectus excavatum
- Ptosis
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Sterility / hypofertility
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Webbed neck / pterygium colli

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Absent / hypotonic / flaccid abdominal wall muscles
- Angor pectoris / myocardial infarction
- Arterial aneurism (excluding aorta)
- Brachycephaly / flat occiput
- Ectopic / horseshoe / fused kidneys
- Endocardium anomalies / fibroelastosis / endocarditis
- Hypospadias / epispadias / bent penis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Melanoma
- Myeloproliferative syndrome / chronic leukemia
- Neuroblastoma
- Rippled skin
- Scoliosis
- Short stature / dwarfism / nanism
- Spina bifida occulta
- Triangular face