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Hashimoto-Pritzker syndrome
1 associated gene
22 signs/symptoms
PROTEIN INTERACTIONS: 1
46,XY complete gonadal dysgenesis
7 OMIM references -
8 associated genes
5 signs/symptoms
Hashimoto-Pritzker syndrome
46,XY complete gonadal dysgenesis

BRAF
(UniProt - OMIM)
 CBX2
(UniProt - OMIM)
DHH
(UniProt - OMIM)
DMRT1
(UniProt - OMIM)
DMRT2
(UniProt - OMIM)
MAP3K1
(UniProt - OMIM)
NR0B1
(UniProt - OMIM)
NR5A1
(UniProt - OMIM)
SRY
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BRAF
(0.84)
MAP3K1


Citations in the biomedical literature:


Hashimoto-Pritzker syndrome
BRAF
46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY



Hashimoto-Pritzker syndrome
46,XY complete gonadal dysgenesis

Synonym(s):
- Congenital Langerhans cell histiocytosis
Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare skin disease
- Rare urogenital 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: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
No OMIM references
1 MeSH reference: C535843
External references:
7 OMIM references -
No MeSH references
Hashimoto-Pritzker syndrome
46,XY complete gonadal dysgenesis

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
- Abnormal / polycystic ovaries
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance