KEGG DISEASE: Hydrolethalus syndrome

KEGG

DISEASE: Hydrolethalus syndrome

Entry

H01265                      Disease

Name

Hydrolethalus syndrome

Description

Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome leading to stillbirth or death shortly after birth. HLS is characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia and polydactyly. HLS is caused by mutations in HYLS1 and KIF7. Both genes code for ciliary or centriolar proteins that seem to be involved in early embryonic development of the midline.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01265  Hydrolethalus syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06501  HH signaling
   H01265  Hydrolethalus syndrome

Network

nt06501 HH signaling

Gene

(HLS1) HYLS1 [HSA:219844] [KO:K16472]
(HLS2) KIF7 [HSA:374654] [KO:K18806]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:15843405 (HLS1)

Authors

Mee L, Honkala H, Kopra O, Vesa J, Finnila S, Visapaa I, Sang TK, Jackson GR, Salonen R, Kestila M, Peltonen L

Title

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.

Journal

Hum Mol Genet 14:1475-88 (2005)
DOI:10.1093/hmg/ddi157

Reference

PMID:21552264 (HLS2)

Authors

Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joye N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attie-Bitach T

Title

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Journal

Nat Genet 43:601-6 (2011)
DOI:10.1038/ng.826

LinkDB

» Japanese version

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