Details of Disease

General Information of Disease (ID: DISX56R3)

Disease Name Hydrolethalus syndrome
Synonyms hydrolethalus; HLS; Salonen-Herva-Norio syndrome
Definition Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISX56R3: Hydrolethalus syndrome
Disease Identifiers
MONDO ID
MONDO_0006037
MESH ID
C536079
UMLS CUI
C2931104
MedGen ID
419335
Orphanet ID
2189
SNOMED CT ID
721232000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HYLS1 OT3SW5UC Supportive Autosomal recessive [1]
KIF7 OT1J6NAW Supportive Autosomal recessive [2]
PUS3 OT6WG6M2 moderate CausalMutation [3]
DDX25 OTF36NBP Strong Genetic Variation [1]
------------------------------------------------------------------------------------

References

1 Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. Hum Mol Genet. 2005 Jun 1;14(11):1475-88. doi: 10.1093/hmg/ddi157. Epub 2005 Apr 20.
2 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8.
3 Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.Pathogenetics. 2009 Apr 28;2(1):2. doi: 10.1186/1755-8417-2-2.