HLS2
MCID: HYD040
MIFTS: 31

Hydrolethalus Syndrome 2 (HLS2)

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

Aliases & Classifications for Hydrolethalus Syndrome 2

MalaCards integrated aliases for Hydrolethalus Syndrome 2:

Name: Hydrolethalus Syndrome 2 57 12 72 29 13 6 15 70
Hls2 57 12 72
Hydrolethalus Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
hydrolethalus syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111356
OMIM® 57 614120
OMIM Phenotypic Series 57 PS236680
UMLS 70 C3279899

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) (Updated 05-Apr-2021)

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

Disease Ontology : 12 A hydrolethalus syndrome that has material basis in homozygous or compound heterozygous mutation in KIF7 on chromosome 15q26.1.

UniProtKB/Swiss-Prot : 72 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
2 sarcoma 9.9
3 spindle cell sarcoma 9.9
4 neuroblastoma 8.5 NBPF6 NBPF4 NBPF26 NBPF19 NBPF15 NBPF12
5 hydrolethalus syndrome 1 8.1 NBPF6 NBPF4 NBPF26 NBPF19 NBPF15 NBPF12

Graphical network of the top 20 diseases related to Hydrolethalus Syndrome 2:



Diseases related to Hydrolethalus Syndrome 2

Symptoms & Phenotypes for Hydrolethalus Syndrome 2

Human phenotypes related to Hydrolethalus Syndrome 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 hydrocephalus 31 HP:0000238
3 cleft palate 31 HP:0000175
4 micrognathia 31 HP:0000347
5 ventriculomegaly 31 HP:0002119
6 anencephaly 31 HP:0002323
7 molar tooth sign on mri 31 HP:0002419
8 preaxial polydactyly 31 HP:0100258
9 postaxial polydactyly 31 HP:0100259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Hydrolethalus Syndrome 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased OCT4 protein expression GR00184-A-2 9.32 KIF7 NBPF15
2 Decreased OCT4 protein expression GR00184-A-5 9.32 KIF7 NBPF15
3 Decreased OCT4 protein expression GR00184-A-7 9.32 NBPF15

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

MalaCards organs/tissues related to Hydrolethalus Syndrome 2:

40
Brain

Publications for Hydrolethalus Syndrome 2

Articles related to Hydrolethalus Syndrome 2:

(show all 14)
# Title Authors PMID Year
1
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 57 6
21552264 2011
2
Solution NMR backbone assignment reveals interaction-free tumbling of human lineage-specific Olduvai protein domains. 61
31264103 2019
3
A MAPK cascade downstream of IDA-HAE/HSL2 ligand-receptor pair in lateral root emergence. 61
30936437 2019
4
Total knee implant posterior stabilised by a third condyle: Design evolution and post-operative complications. 61
27771429 2016
5
Identification and functional characterization of two HOOKLESS genes in Tomato (Solanum lycopersicum). 61
27343715 2016
6
Auxin, ethylene and brassinosteroids: tripartite control of growth in the Arabidopsis hypocotyl. 61
15851402 2005
7
A serine protease inhibitor (serpin) from Haemaphysalis longicornis as an anti-tick vaccine. 61
15652673 2005
8
Expression of two HOOKLESS genes in peas (Pisum sativum L.). 61
11333307 2001
9
Holographic imaging of human brain preparations--a step toward virtual medicine. 61
8629226 1995
10
Glycosaminoglycan-mediated leuserpin-2/thrombin interaction. Structure-function relationships. 61
2266131 1990
11
On the activation of human leuserpin-2, a thrombin inhibitor, by glycosaminoglycans. 61
2318889 1990
12
Structure and expression of the gene coding for the human serpin hLS2. 61
2841345 1988
13
A new member of the plasma protease inhibitor gene family. 61
3003690 1986
14
EVALUATION OF DNA SYNTHESIS BY AUTORADIOGRAPHY. II. OBSERVATIONS ON G2, PERIOD AND MITOTIC TIME OF HUMAN LIPOGENIC SARCOMA CELL LINE (HLS2). 61
14300945 1965

Variations for Hydrolethalus Syndrome 2

ClinVar genetic disease variations for Hydrolethalus Syndrome 2:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIF7 NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs) Deletion Pathogenic 30895 rs752248403 GRCh37: 15:90174940-90174941
GRCh38: 15:89631709-89631710
2 KIF7 NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) SNV Uncertain significance 522734 rs367734857 GRCh37: 15:90177084-90177084
GRCh38: 15:89633853-89633853
3 KIF7 NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) SNV Uncertain significance 522734 rs367734857 GRCh37: 15:90177084-90177084
GRCh38: 15:89633853-89633853
4 KIF7 NM_198525.3(KIF7):c.2420C>T (p.Thr807Met) SNV Uncertain significance 283078 rs757175418 GRCh37: 15:90177089-90177089
GRCh38: 15:89633858-89633858
5 KIF7 NM_198525.3(KIF7):c.3326C>T (p.Thr1109Met) SNV Uncertain significance 930849 GRCh37: 15:90172797-90172797
GRCh38: 15:89629566-89629566
6 KIF7 NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln) SNV Uncertain significance 930850 GRCh37: 15:90174859-90174859
GRCh38: 15:89631628-89631628
7 KIF7 NM_198525.3(KIF7):c.2482G>A (p.Val828Met) SNV Uncertain significance 384330 rs143915145 GRCh37: 15:90177027-90177027
GRCh38: 15:89633796-89633796
8 KIF7 NM_198525.3(KIF7):c.2354A>T (p.Glu785Val) SNV Uncertain significance 452288 rs759424882 GRCh37: 15:90185474-90185474
GRCh38: 15:89642243-89642243
9 KIF7 NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) SNV Uncertain significance 283923 rs553968087 GRCh37: 15:90191752-90191752
GRCh38: 15:89648521-89648521
10 KIF7 NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln) SNV Uncertain significance 286561 rs149078926 GRCh37: 15:90188330-90188330
GRCh38: 15:89645099-89645099
11 KIF7 NM_198525.3(KIF7):c.2896-18T>A SNV Uncertain significance 1027931 GRCh37: 15:90174959-90174959
GRCh38: 15:89631728-89631728
12 KIF7 NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) SNV Benign 129415 rs142032413 GRCh37: 15:90172778-90172778
GRCh38: 15:89629547-89629547

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

Cellular components related to Hydrolethalus Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.17 NBPF6 NBPF4 NBPF26 NBPF19 NBPF15 NBPF12

Sources for Hydrolethalus Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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