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Primary sclerosing cholangitis
2 OMIM references -
3 associated genes
No signs/symptoms info
COMMON GENES: 1
Pitt-Hopkins syndrome
1 OMIM reference -
1 associated gene
24 signs/symptoms
Primary sclerosing cholangitis
Pitt-Hopkins syndrome

GPR35
(UniProt - OMIM)
 TCF4
(UniProt - OMIM)
MST1
(UniProt - OMIM)
TCF4
(UniProt - OMIM)

COMMON
GENES 		TCF4


Citations in the biomedical literature:


Primary sclerosing cholangitis
GPR35 MST1 TCF4
Pitt-Hopkins syndrome



Primary sclerosing cholangitis
Pitt-Hopkins syndrome

Synonym(s):
- PSC
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C536419
External references:
1 OMIM reference -
1 MeSH reference: C537403
Pitt-Hopkins syndrome

Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anteverted nares / nostrils
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal dominant inheritance
- Constipation
- Deepset eyes / enophthalmos
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Helix thickened / sculpted
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrostomia / big mouth
- Microcephaly
- Palate anomalies
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thick lips

Frequent
- Apnea / sleep apnea
- Myopia
- Respiratory rhythm disorder
- Seizures / epilepsy / absences / spasms / status epilepticus
- Tapered fingers
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Irregular / patchy skin hypopigmentation
- Micropenis / small penis / agenesis


Primary sclerosing cholangitis

(no data available)