MCID: HYD040
MIFTS: 19

Hydrolethalus Syndrome 2

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Hydrolethalus Syndrome 2

MalaCards integrated aliases for Hydrolethalus Syndrome 2:

Name: Hydrolethalus Syndrome 2 57 75 29 13 6 73
Hls2 57 75
Hydrolethalus Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in utero
one family has been reported (as of july 2011)


HPO:

32
hydrolethalus syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hydrolethalus Syndrome 2

OMIM : 57 Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by Putoux et al., 2011). Acrocallosal syndrome (ACLS; 200990) is an allelic disorder with a less severe phenotype. For a discussion of genetic heterogeneity of hydrolethalus syndrome, see 236680. (614120)

MalaCards based summary : Hydrolethalus Syndrome 2, also known as hls2, is related to acrocallosal syndrome. An important gene associated with Hydrolethalus Syndrome 2 is KIF7 (Kinesin Family Member 7). Related phenotypes are agenesis of corpus callosum and hydrocephalus

UniProtKB/Swiss-Prot : 75 Hydrolethalus syndrome 2: An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding.

Related Diseases for Hydrolethalus Syndrome 2

Diseases in the Hydrolethalus Syndrome 1 family:

Hydrolethalus Syndrome 2

Diseases related to Hydrolethalus Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acrocallosal syndrome 10.9

Symptoms & Phenotypes for Hydrolethalus Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate

Neurologic Central Nervous System:
anencephaly
enlarged ventricles
agenesis of the corpus callosum
hydrocephaly
arhinencephaly
more
Skeletal Hands:
postaxial polydactyly

Head And Neck Face:
micrognathia

Skeletal Feet:
preaxial polydactyly
postaxial polydactyly
duplication of the hallux


Clinical features from OMIM:

614120

Human phenotypes related to Hydrolethalus Syndrome 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 hydrocephalus 32 HP:0000238
3 cleft palate 32 HP:0000175
4 micrognathia 32 HP:0000347
5 ventriculomegaly 32 HP:0002119
6 anencephaly 32 HP:0002323
7 molar tooth sign on mri 32 HP:0002419
8 preaxial polydactyly 32 HP:0100258
9 postaxial polydactyly 32 HP:0100259

Drugs & Therapeutics for Hydrolethalus Syndrome 2

Search Clinical Trials , NIH Clinical Center for Hydrolethalus Syndrome 2

Genetic Tests for Hydrolethalus Syndrome 2

Genetic tests related to Hydrolethalus Syndrome 2:

# Genetic test Affiliating Genes
1 Hydrolethalus Syndrome 2 29 KIF7

Anatomical Context for Hydrolethalus Syndrome 2

Publications for Hydrolethalus Syndrome 2

Variations for Hydrolethalus Syndrome 2

ClinVar genetic disease variations for Hydrolethalus Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF7 NM_198525.2(KIF7): c.2896_2897delGC (p.Ala966Profs) deletion Pathogenic rs752248403 GRCh38 Chromosome 15, 89631709: 89631710
2 KIF7 NM_198525.2(KIF7): c.2896_2897delGC (p.Ala966Profs) deletion Pathogenic rs752248403 GRCh37 Chromosome 15, 90174940: 90174941
3 KIF7 NM_198525.2(KIF7): c.2425C> T (p.Arg809Trp) single nucleotide variant Uncertain significance rs367734857 GRCh38 Chromosome 15, 89633853: 89633853
4 KIF7 NM_198525.2(KIF7): c.2425C> T (p.Arg809Trp) single nucleotide variant Uncertain significance rs367734857 GRCh37 Chromosome 15, 90177084: 90177084

Expression for Hydrolethalus Syndrome 2

Search GEO for disease gene expression data for Hydrolethalus Syndrome 2.

Pathways for Hydrolethalus Syndrome 2

GO Terms for Hydrolethalus Syndrome 2

Sources for Hydrolethalus Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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