KEGG DISEASE: Microcephaly, Amish type

KEGG

DISEASE: Microcephaly, Amish type

Entry

H00990                      Disease

Name

Microcephaly, Amish type

Supergrp

Microcephaly syndrome [DS:H02132]

Description

Microcephaly, Amish type (MCPHA) is a lethal, autosomal recessive condition characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine, and premature death. This disorder has been observed in Old Order Amish families. Patients have a homozygous point mutation in SLC25A19 that results in loss of transport activity.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H00990  Microcephaly, Amish type

Gene

SLC25A19 [HSA:60386] [KO:K15108]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Palmieri F

Title

The mitochondrial transporter family (SLC25): physiological and pathological implications.

Journal

Pflugers Arch 447:689-709 (2004)
DOI:10.1007/s00424-003-1099-7

Reference

Authors

Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schaffer AA, Biesecker LG

Title

Mutant deoxynucleotide carrier is associated with congenital microcephaly.

Journal

Nat Genet 32:175-9 (2002)
DOI:10.1038/ng948

LinkDB

» Japanese version

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