Familial cirrhosis

Familial cirrhosis
Classification and external resources
ICD-9	571.5
OMIM	215600

Familial cirrhosis is a form of cirrhosis that is a keratin disease.

It is associated with KRT8 and KRT18.^[1]

References

↑ Online 'Mendelian Inheritance in Man' (OMIM) 215600

Cytoskeletal defects

Actin	Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3

Myosin	Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May-Hegglin anomaly

Troponin	Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5

Tropomyosin	Hypertrophic cardiomyopathy 3 Nemaline myopathy 1

Titin	Hypertrophic cardiomyopathy 9

Other

Fibrillin
- Marfan syndrome
- Weill-Marchesani syndrome
Filamin

1/2	Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E (Ichthyosis bullosa of Siemens) KRT3 (Meesmann juvenile epithelial corneal dystrophy) KRT4 (White sponge nevus) KRT5 (Epidermolysis bullosa simplex) KRT8 (Familial cirrhosis) KRT10 (Epidermolytic hyperkeratosis) KRT12 (Meesmann juvenile epithelial corneal dystrophy) KRT13 (White sponge nevus) KRT14 (Epidermolysis bullosa simplex) KRT17 (Steatocystoma multiplex) KRT18 (Familial cirrhosis) KRT81/KRT83/KRT86 (Monilethrix) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures

3	Desmin: Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP: Alexander disease Peripherin: Amyotrophic lateral sclerosis

4	Neurofilament: Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis

5	Laminopathy: LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery-Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger-Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia

Kinesin	Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10

Dynein	Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3

Other	Tauopathy Cavernous venous malformation

Ankyrin: Long QT syndrome 4

Hereditary spherocytosis 1

APC
- Gardner's syndrome
- Familial adenomatous polyposis
plakoglobin (Naxos syndrome)
GAN (Giant axonal neuropathy)

Other

desmoplakin: Striate palmoplantar keratoderma 2
Carvajal syndrome
Arrhythmogenic right ventricular dysplasia 8

plectin: Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex of Ogna

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)

See also: cytoskeletal proteins

Index of cells

Description	Structure nucleus chromosome genetics Organelles peroxisome cytoskeleton centrosome epithelia cilia mitochondria Membranes proteins cell adhesions Membrane transport ion channels vesicular transport solute carrier ABC transporters ATPase oxidoreduction-driven

Disease	Structural peroxisome cytoskeleton cilia mitochondria nucleus scleroprotein Membrane channelopathy solute carrier ATPase ABC transporters other extracellular ligands cell surface receptors intracellular signalling Vesicular transport Pore-forming toxins

Diseases of the digestive system (primarily K20–K93, 530–579)

Upper GI tract

Esophagus	Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory-Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus

Stomach	Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus

Lower GI tract:
Intestinal/
Enteropathy

Small intestine (Duodenum/Jejunum/Ileum)	Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption: Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease bile acid malabsorption

Large intestine (Appendix/Colon)	Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis/Diverticulosis

Large and/or small	Enterocolitis Necrotizing IBD Crohn's disease Vascular: Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction: Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions

Rectum	Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus

Anal canal	Anal fissure/Anal fistula Anal abscess Anal dysplasia Pruritus ani

GI bleeding/BIS

Accessory

Liver	Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd-Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's Disease Hemochromatosis

Gallbladder	Cholecystitis Gallstones/Cholecystolithiasis Cholesterolosis Rokitansky-Aschoff sinuses Postcholecystectomy syndrome Porcelain gallbladder

Bile duct/ Other biliary tree	Cholangitis PSC Secondary sclerosing cholangitis Ascending Cholestasis/Mirizzi's syndrome Biliary fistula Haemobilia Gallstones/Cholelithiasis Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction

Pancreatic	Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula

Hernia	Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia

Peritoneal	Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum

Index of digestion

Description	Anatomy tract glands other Physiology enzymes Development

Disease	Congenital Neoplasms and cancer Inflammatory bowel disease Gluten sensitivity Other Symptoms and signs eponymous Blood tests

Treatment	Procedures Drugs anabolic steroids antacids diarrhoea and infection bile and liver functional gastrointestinal disorders laxatives peptic ulcer and reflux nausea and vomiting other Surgery