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Hashimoto-Pritzker syndrome
1 associated gene
22 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Cowden syndrome
6 OMIM references -
7 associated genes
54 signs/symptoms
Hashimoto-Pritzker syndrome
Cowden syndrome

BRAF
(UniProt - OMIM)
 AKT1
(UniProt - OMIM)
KLLN
(UniProt - OMIM)
PIK3CA
(UniProt - OMIM)
PTEN
(UniProt - OMIM)
SDHB
(UniProt - OMIM)
SDHC
(UniProt - OMIM)
SDHD
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BRAF
(0.65)
AKT1


Citations in the biomedical literature:


Hashimoto-Pritzker syndrome
BRAF
Cowden syndrome
AKT1 KLLN PIK3CA PTEN SDHB SDHC
SDHD



Hashimoto-Pritzker syndrome
Cowden syndrome

Synonym(s):
- Congenital Langerhans cell histiocytosis
Synonym(s):
- Cowden disease
- Multiple hamartoma syndrome
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic 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: 1-9 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
No OMIM references
1 MeSH reference: C535843
External references:
6 OMIM references -
1 MeSH reference: D006223
COMMON
SIGNS 		- Follicular / erythematous / edematous papules / milium
- Macules
- Subcutaneous nodules / lipomas / tumefaction / swelling

Hashimoto-Pritzker syndrome
Cowden syndrome

Very frequent
- 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
- Breast neoplasm / tumor / carcinoma / cancer
- Follicular / conjunctival hamartomas
- Goiter
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma
- Polyposis of the bowel / colon / intestine
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Warts / papillomas

Frequent
- Adenoma sebaceum
- Cavernous / tuberous hemangioma
- Fissured / scrotal tongue
- Hairy patch
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Meningioma
- Neoplasms / tumors
- Penis anomalies
- Pigmented naevi / naevus pigmentosus / lentigo
- Telangiectasiae of mucosae
- Thyroid anomalies
- Xanthomas / lipomas

Occasional
- Abnormal / polycystic ovaries
- Autism / autistic disoders
- Bone cyst
- Cafe-au-lait spot
- Cataract / lens opacification
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cranial hypertension
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / patchy skin hypopigmentation
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Kyphosis
- Melanoma
- Myopia
- Pectus excavatum
- Renal / kidney anomalies
- Retinal vascular anomalies / retinal telangiectasia
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- T-cell deficiency / cellular immunity deficiency
- Thyroid neoplasm / tumor / carcinoma / cancer
- Uterine / uterus / Fallopian tubes anomalies
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer