Polycystic liver disease

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Polycystic liver disease
Classification and external resources
Micrograph showing a von Meyenburg complex, a bile duct hamartoma associated with polycystic liver disease. Trichrome stain.
ICD-10	Q44.6
OMIM	174050
DiseasesDB	33340

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

1 Pathophysiology
2 See also
3 References
4 External links

[edit] Pathophysiology

This section requires expansion.

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

[edit] See also

Hepatic cyst (liver cyst)

[edit] References

^ Online 'Mendelian Inheritance in Man' (OMIM) 174050

[edit] 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 (Q35–Q45, 749–751)

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 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 · Persistent cloaca

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

M: MOU

anat/devp

noco/cofa(c)/cogi/tumr, sysi

proc (peri), drug (A1)

M: DIG

anat(t, g, p)/phys/devp/enzy

noco/cong/tumr, sysi/epon

proc, drug(A2A/2B/3/4/5/6/7/14/16), blte

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 mental retardation 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

EDARADD (EDARADD Hypohidrotic ectodermal dysplasia) · SH3BP2 (Cherubism) · LDB3 (Zaspopathy)

Other

NF2 (Neurofibromatosis type II) · NOTCH3 (CADASIL) · PRKAR1A (Carney complex) · PRKAG2 (Wolff–Parkinson–White syndrome) · PRKCSH (PRKCSH Polycystic liver disease) · XIAP (XIAP2)

see also intracellular signaling peptides and proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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[edit] Pathophysiology

[edit] See also

[edit] References

[edit] External links

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