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Isolated polycystic liver disease

1 OMIM reference -
2 associated genes
16 connected diseases
14 signs/symptoms

Disease	Type of connection
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Boomerang dysplasia
Hypocalcemic vitamin D-resistant rickets
Mosaic variegated aneuploidy syndrome
Spondylocarpotarsal synostosis
T-B+ severe combined immunodeficiency due to CD45 deficiency
Young adult-onset Parkinsonism
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Combined oxidative phosphorylation defect type 13
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia

Synonym(s): - ADPCLD - Autosomal dominant polycystic liver disease - PCLD

Classification (Orphanet): - Rare genetic disease - Rare hepatic disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant		External references: 1 OMIM reference - 1 MeSH reference: C536330

Gene symbol	UniProt reference	OMIM reference
PRKCSH	P14314	177060
SEC63	Q9UGP8	608648

Very frequent

- Autosomal dominant inheritance
- Hepatomegaly / liver enlargement (excluding storage disease)
- Polycystic liver disease / hepatic cysts

Frequent

- Polycystic kidneys

Occasional

- Acute abdominal pain / colic
- Arterial aneurism (excluding aorta)
- Early death / lethality
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hepatitis / icterus / cholestasis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Structural anomalies of the pancreas
- Structural anomalies of the respiratory system and diaphragm