KEGG DISEASE: GRACILE syndrome

KEGG

DISEASE: GRACILE syndrome

Entry

H02007                      Disease

Name

GRACILE syndrome;
Fellman syndrome;
Finnish lethal neonatal metabolic syndrome

Supergrp

Mitochondrial disease [DS:H01427]

Description

GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a rare autosomal recessive disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. It has been described mostly in newborn infants with parents of Finnish origin. It is caused by mutations in BCS1L. The BCS1L gene encodes a chaperone responsible for assembly of mitochondrial respiratory chain complex III.

Category

Inherited metabolic disorder, Mitochondrial disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H02007  GRACILE syndrome

Gene

BCS1L [HSA:617] [KO:K08900]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Kasapkara CS, Tumer L, Ezgu FS, Kucukcongar A, Hasanoglu A

Title

BCS1L gene mutation causing GRACILE syndrome: case report.

Journal

Ren Fail 36:953-4 (2014)
DOI:10.3109/0886022X.2014.900422

Reference

Authors

Fellman V, Rapola J, Pihko H, Varilo T, Raivio KO

Title

Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria.

Journal

Lancet 351:490-3 (1998)
DOI:10.1016/S0140-6736(97)09272-6

Reference

Authors

Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L

Title

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

Journal

Am J Hum Genet 71:863-76 (2002)
DOI:10.1086/342773

LinkDB

» Japanese version

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