Polycystic liver disease: Difference between revisions

Polycystic liver disease
Specialty	Medical genetics

Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout normal liver tissue, in association with polycystic kidney disease.

Pathophysiology

This section needs expansion. You can help by adding to it. (July 2008)

Associations with PRKCSH and SEC63 have been described.^[1]

References

^ Online Mendelian Inheritance in Man (OMIM): 174050

External links

http://www.pkdcure.org/site/PageServer?pagename=pkdabt_patientsartic6
http://www.hdcn.com/symp/01pkd/per/per1.htm (requires free account, register at http://www.hdcn.com/reg.htm)

Congenital malformations and deformations of digestive system

Upper GI tract

Tongue, mouth and pharynx	Cleft lip and palate Van der Woude syndrome tongue Ankyloglossia Macroglossia Hypoglossia
Esophagus	EA/TEF Esophageal atresia: types A, B, C, and D Tracheoesophageal fistula: types B, C, D and E Esophageal inlet patch esophageal rings Esophageal web (upper) Schatzki ring (lower)
Stomach	Pyloric stenosis Hiatus hernia

Lower GI tract

Intestines	Intestinal atresia Duodenal atresia Meckel's diverticulum Hirschsprung's disease Intestinal malrotation Dolichocolon Enteric duplication cyst
Rectum/anal canal	Imperforate anus Rectovestibular fistula Persistent cloaca Rectal atresia

Accessory

Pancreas	Annular pancreas Accessory pancreas Johanson–Blizzard syndrome Pancreas divisum
Bile duct	Choledochal cysts Caroli disease Biliary atresia
Liver	Alagille syndrome Polycystic liver disease

Deficiencies of intracellular signaling peptides and proteins

GTP-binding protein regulators

GTPase-activating protein	Neurofibromatosis type I Watson syndrome Tuberous sclerosis
Guanine nucleotide exchange factor	Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-linked intellectual disability 1

G protein

Heterotrimeic	cAMP/GNAS1: Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2
Monomeric	RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF: SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3

MAP kinase

Cardiofaciocutaneous syndrome

Other kinase/phosphatase

Tyrosine kinase	BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency
Serine/threonine kinase	RPS6KA3 Coffin-Lowry syndrome CHEK2 Li–Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4/WNK1 Pseudohypoaldosteronism 2
Tyrosine phosphatase	PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis

Signal transducing adaptor proteins

Other

NF2
- Neurofibromatosis type II
Notch 3
- CADASIL
PRKAR1A
- Carney complex
PRKAG2
- Wolff–Parkinson–White syndrome
PRKCSH
- PRKCSH Polycystic liver disease
XIAP
- XIAP2

See also intracellular signaling peptides and proteins

@@ Line 4: / Line 4: @@
 | Caption        = [[Micrograph]] showing a [[von Meyenburg complex]], a [[bile duct]] [[hamartoma]] associated with '''polycystic liver disease'''. [[Trichrome stain]].
 | DiseasesDB     = 33340
-| ICD10          = Q44.6
+| ICD10          = {{ICD10|Q|44|6|q|44}}
 | ICD9           =
 | ICDO           =

Revision as of 02:48, 28 June 2012

Pathophysiology

See also

References

External links