KEGG DISEASE: Severe congenital liver disease

DISEASE: Severe congenital liver disease

Entry

H02730                      Disease

Name

Severe congenital liver disease

Description

Severe congenital liver disease (SCOLIV) is a multisystemic syndrome characterized by severe neonatal liver cirrhosis. The recessive loss-of-function mutations in FOCAD cause this disease. It has been suggested that FOCAD deficiency impairs the SKI mRNA surveillance pathway by reducing levels of the SKIC2 and SKIC3, two important components of the SKI complex.

Category

Digestive system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
19 Certain conditions originating in the perinatal period
  Digestive system disorders of fetus or newborn
   KB8Y  Other specified digestive system disorders of fetus or newborn
    H02730  Severe congenital liver disease

Gene

FOCAD [HSA:54914] [KO:K27498]

Other DBs

ICD-11:

KB8Y

ICD-10:

K72.0

OMIM:

619991

Reference

PMID:35864190

Authors

Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bezieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrao AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B

Title

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Journal

Nat Genet 54:1214-1226 (2022)
DOI:10.1038/s41588-022-01120-0

Reference

PMID:36530527

Authors

Shao J

Title

Discovery of FOCAD: An Important Gene in Liver Cirrhosis.

Journal

Glob Med Genet 9:263-264 (2022)
DOI:10.1055/s-0042-1758351

LinkDB

» Japanese version

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