HLS1
MCID: HYD033
MIFTS: 55

Hydrolethalus Syndrome 1 (HLS1)

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

Aliases & Classifications for Hydrolethalus Syndrome 1

MalaCards integrated aliases for Hydrolethalus Syndrome 1:

Name: Hydrolethalus Syndrome 1 58 76 30 6 74
Hydrolethalus Syndrome 58 12 77 54 38 13 6 45 15 74
Hls1 58 76
Hydrolethalus Syndrome, Type 1 41
Salonen-Herva-Norio Syndrome 12
Hydrolethalus 60
Hls 54

Characteristics:

Orphanet epidemiological data:

60
hydrolethalus
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

58
Miscellaneous:
polyhydramnios
seventy percent of cases are stillborn
live born infants die within few hours of birth
increased frequency in finland (prevalence of 1 in 20,000)

Inheritance:
autosomal recessive


HPO:

33
hydrolethalus syndrome 1:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hydrolethalus Syndrome 1

UniProtKB/Swiss-Prot : 76 Hydrolethalus syndrome 1: A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery.

MalaCards based summary : Hydrolethalus Syndrome 1, also known as hydrolethalus syndrome, is related to pallister-hall syndrome and polydactyly. An important gene associated with Hydrolethalus Syndrome 1 is HYLS1 (HYLS1 Centriolar And Ciliogenesis Associated), and among its related pathways/superpathways are Signaling by Hedgehog and Organelle biogenesis and maintenance. Affiliated tissues include heart, uterus and adrenal gland, and related phenotypes are agenesis of corpus callosum and hydrocephalus

Disease Ontology : 12 An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.

Wikipedia : 77 Hydrolethalus syndrome (HLS) is a rare genetic disorder that causes improper fetal development,... more...

Description from OMIM: 236680

Related Diseases for Hydrolethalus Syndrome 1

Diseases in the Hydrolethalus Syndrome 1 family:

Hydrolethalus Syndrome 2

Diseases related to Hydrolethalus Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 187)
# Related Disease Score Top Affiliating Genes
1 pallister-hall syndrome 30.1 KIF7 SHH
2 polydactyly 29.7 BBS2 BBS4 MKS1 SHH
3 hydrolethalus syndrome 2 12.5
4 hepatic lipase deficiency 12.2
5 lymphoma, hodgkin, classic 12.1
6 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.2
7 lipase deficiency, combined 11.2
8 mental retardation, autosomal recessive 55 10.4 HYLS1 PUS3
9 lymphoma 10.3
10 joubert syndrome with ocular anomalies 10.3 AHI1 MKS1
11 encephalocele 10.3 MKS1 TMEM67
12 meckel syndrome, type 2 10.3 MKS1 TMEM67
13 meckel syndrome, type 3 10.3 MKS1 TMEM67
14 choriocarcinoma 10.2
15 leukemia 10.2
16 chlamydia pneumonia 10.2
17 chlamydia 10.2
18 nephronophthisis 11 10.2 AHI1 TMEM67
19 joubert syndrome 6 10.2 AHI1 MKS1 TMEM67
20 meckel syndrome, type 6 10.1 AHI1 MKS1 TMEM67
21 senior-loken syndrome 1 10.1 AHI1 MKS1 TMEM67
22 bardet-biedl syndrome 6 10.1 BBS2 BBS4
23 bardet-biedl syndrome 8 10.1 BBS2 BBS4
24 arthritis 10.1
25 severe combined immunodeficiency 10.1
26 uveitis 10.1
27 combined t cell and b cell immunodeficiency 10.1
28 anterior uveitis 10.1
29 mckusick-kaufman syndrome 10.1 BBS2 BBS4
30 bardet-biedl syndrome 14 10.1 BBS2 TMEM67
31 bardet-biedl syndrome 3 10.1 BBS2 BBS4
32 maxillonasal dysplasia, binder type 10.1 ALX3 SHH
33 acute lymphocytic leukemia 10.0
34 lymphocytic leukemia 10.0
35 psoriasis 10.0
36 acromelic frontonasal dysostosis 10.0 ALX3 SHH
37 bardet-biedl syndrome 1 10.0 BBS2 BBS4 KIF7
38 endocrine-cerebroosteodysplasia 10.0 ICK SHH
39 nephronophthisis 10.0 AHI1 MKS1 TMEM67
40 rheumatoid arthritis 10.0
41 juvenile rheumatoid arthritis 10.0
42 bardet-biedl syndrome 15 10.0 BBS2 BBS4 TMEM67
43 acrocallosal syndrome 10.0
44 anencephaly 10.0
45 pseudotrisomy 13 syndrome 10.0
46 short-rib thoracic dysplasia 10 with or without polydactyly 10.0
47 omphalocele 10.0
48 greig cephalopolysyndactyly syndrome 10.0 KIF7 SHH
49 lung agenesis 10.0
50 smith-lemli-opitz syndrome 10.0

Graphical network of the top 20 diseases related to Hydrolethalus Syndrome 1:



Diseases related to Hydrolethalus Syndrome 1

Symptoms & Phenotypes for Hydrolethalus Syndrome 1

Human phenotypes related to Hydrolethalus Syndrome 1:

60 33 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0001274
2 hydrocephalus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000238
3 micrognathia 60 33 very rare (1%) Very frequent (99-80%) HP:0000347
4 retrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000278
5 polyhydramnios 60 33 very rare (1%) Very frequent (99-80%) HP:0001561
6 absent septum pellucidum 60 33 hallmark (90%) Very frequent (99-80%) HP:0001331
7 postaxial hand polydactyly 60 33 very rare (1%) Very frequent (99-80%) HP:0001162
8 premature birth 60 33 hallmark (90%) Very frequent (99-80%) HP:0001622
9 laryngomalacia 60 33 frequent (33%) Frequent (79-30%) HP:0001601
10 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
11 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
12 abnormality of the sense of smell 60 33 frequent (33%) Frequent (79-30%) HP:0004408
13 bifid uvula 60 33 frequent (33%) Frequent (79-30%) HP:0000193
14 abnormality of cardiovascular system morphology 60 33 frequent (33%) Frequent (79-30%) HP:0030680
15 submucous cleft hard palate 60 33 frequent (33%) Frequent (79-30%) HP:0000176
16 tracheal atresia 60 33 frequent (33%) Frequent (79-30%) HP:0100682
17 gingival cleft 60 33 frequent (33%) Frequent (79-30%) HP:0030690
18 unilateral cleft lip 60 33 frequent (33%) Frequent (79-30%) HP:0100333
19 micromelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002983
20 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
21 microphthalmia 60 33 very rare (1%) Occasional (29-5%) HP:0000568
22 arrhinencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002139
23 anophthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000528
24 abnormality of the fallopian tube 60 33 occasional (7.5%) Occasional (29-5%) HP:0011027
25 low-set ears 60 33 very rare (1%) Frequent (79-30%) HP:0000369
26 anencephaly 60 33 very rare (1%) Occasional (29-5%) HP:0002323
27 abnormality of the pinna 33 very rare (1%) HP:0000377
28 talipes equinovarus 33 very rare (1%) HP:0001762
29 tracheal stenosis 33 very rare (1%) HP:0002777
30 preaxial hand polydactyly 33 very rare (1%) HP:0001177
31 abnormal lung lobation 33 very rare (1%) HP:0002101
32 laryngeal hypoplasia 33 very rare (1%) HP:0008749
33 bifid uterus 33 very rare (1%) HP:0000136
34 cleft in skull base 33 very rare (1%) HP:0009752
35 severe hydrocephalus 33 very rare (1%) HP:0006882
36 cleft palate 60 33 Frequent (79-30%) HP:0000175
37 upper limb undergrowth 33 HP:0009824
38 intrauterine growth retardation 33 HP:0001511
39 broad neck 33 HP:0000475
40 hypospadias 33 HP:0000047
41 ventricular septal defect 33 HP:0001629
42 hydronephrosis 33 HP:0000126
43 abnormality of the respiratory system 60 Frequent (79-30%)
44 dandy-walker malformation 33 HP:0001305
45 accessory spleen 33 HP:0001747
46 omphalocele 33 HP:0001539
47 median cleft lip 33 HP:0000161
48 heterotopia 33 HP:0002282
49 bifid nose 33 HP:0011803
50 abnormal cortical gyration 33 HP:0002536

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
malformed ears

Head And Neck Face:
micrognathia

Head And Neck Neck:
broad neck

Genitourinary External Genitalia Male:
hypospadias

Respiratory Airways:
tracheal stenosis
bronchial stenosis

Genitourinary Kidneys:
hydronephrosis

Abdomen External Features:
omphalocele

Skeletal Feet:
preaxial polydactyly
club feet
hallux duplication

Respiratory Larynx:
hypoplastic larynx

Chest Diaphragm:
agenesis of diaphragm

Genitourinary Internal Genitalia Female:
duplicated uterus
vaginal malformation

Skeletal Limbs:
short arms
proximal tibial hypopolasia

Head And Neck Mouth:
cleft palate
lateral or midline cleft lip
lower lip cleft

Growth Other:
intrauterine growth retardation

Head And Neck Eyes:
microphthalmia

Cardiovascular Heart:
ventricular septal defect
atrioventricular canal

Neurologic Central Nervous System:
absent septum pellucidum
anencephaly
absent corpus callosum
arhinencephaly
severe prenatal onset hydrocephalus
more
Abdomen Spleen:
accessory spleen

Head And Neck Nose:
bifid nose

Skeletal Hands:
postaxial polydactyly

Respiratory Lung:
defective lobation
pulmonary agenesis

Abdomen Gastrointestinal:
incomplete bowel rotation

Skeletal Skull:
cleft in skull base
'key hole-shaped' deformity of base of skull (occipitoschisis)

Endocrine Features:
dysplastic adrenal glands

Clinical features from OMIM:

236680

MGI Mouse Phenotypes related to Hydrolethalus Syndrome 1:

47 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 AHI1 ALX3 BBS2 BBS4 DDX25 EVC2
2 growth/size/body region MP:0005378 10.18 AHI1 ALX3 BBS2 BBS4 EVC2 ICK
3 craniofacial MP:0005382 10.13 ALX3 BBS4 EVC2 ICK KIF7 MKS1
4 digestive/alimentary MP:0005381 10.11 ALX3 BBS2 BBS4 ICK KIF7 MKS1
5 mortality/aging MP:0010768 10.1 AFP AHI1 ALX3 BBS4 EVC2 ICK
6 limbs/digits/tail MP:0005371 10.06 ALX3 BBS2 EVC2 ICK KIF7 MKS1
7 endocrine/exocrine gland MP:0005379 10.04 AFP ALX3 BBS2 BBS4 DDX25 MKS1
8 nervous system MP:0003631 10.02 AHI1 ALX3 BBS2 BBS4 ICK KIF7
9 liver/biliary system MP:0005370 9.91 AFP BBS2 BBS4 MKS1 SHH TMEM67
10 renal/urinary system MP:0005367 9.87 AHI1 BBS2 BBS4 ICK MKS1 SHH
11 reproductive system MP:0005389 9.86 AFP ALX3 BBS2 BBS4 DDX25 KIF7
12 skeleton MP:0005390 9.7 ALX3 EVC2 ICK KIF7 MKS1 SHH
13 vision/eye MP:0005391 9.17 AHI1 ALX3 BBS2 BBS4 KIF7 MKS1
14 taste/olfaction MP:0005394 9.13 BBS2 BBS4 SHH

Drugs & Therapeutics for Hydrolethalus Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877

Search NIH Clinical Center for Hydrolethalus Syndrome 1

Cochrane evidence based reviews: hydrolethalus syndrome

Genetic Tests for Hydrolethalus Syndrome 1

Genetic tests related to Hydrolethalus Syndrome 1:

# Genetic test Affiliating Genes
1 Hydrolethalus Syndrome 1 30 HYLS1

Anatomical Context for Hydrolethalus Syndrome 1

MalaCards organs/tissues related to Hydrolethalus Syndrome 1:

42
Heart, Uterus, Adrenal Gland, Lung, Eye, Spleen, Pituitary

Publications for Hydrolethalus Syndrome 1

Articles related to Hydrolethalus Syndrome 1:

(show all 27)
# Title Authors Year
1
The hydrolethalus syndrome protein HYLS-1 regulates formation of the ciliary gate. ( 27534274 )
2016
2
Lethal evolution of a newborn with consistent features of hydrolethalus syndrome--Romanian patient. ( 22029171 )
2011
3
Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level. ( 19400947 )
2009
4
The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation. ( 19656802 )
2009
5
Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. ( 18648327 )
2008
6
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. ( 15843405 )
2005
7
First-trimester diagnosis of hydrolethalus syndrome in a Chinese family. ( 15305343 )
2004
8
Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: a case report. ( 15316965 )
2004
9
An Asian girl with a 'milder' form of the Hydrolethalus syndrome. ( 11152149 )
2001
10
Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. ( 10486328 )
1999
11
Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis. ( 10210131 )
1999
12
Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome. ( 8828988 )
1996
13
First-trimester diagnosis of hydrolethalus syndrome. ( 7850595 )
1995
14
Sonographic detection of hydrolethalus syndrome. ( 8006193 )
1994
15
A fetus with an abnormal chromosome 7 and possible hydrolethalus syndrome. ( 8205324 )
1994
16
Two consecutive hydrolethalus syndrome-affected pregnancies in a nonconsanguinous black couple: discussion of problems in prenatal differential diagnosis of midline malformation syndromes. ( 8322817 )
1993
17
Sonographic detection of hydrolethalus syndrome. ( 1846379 )
1991
18
On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. ( 1776653 )
1991
19
Hydrolethalus syndrome. ( 2074561 )
1990
20
Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome. ( 2407847 )
1990
21
Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis. ( 3321994 )
1987
22
The hydrolethalus syndrome. ( 3580557 )
1987
23
Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective. ( 4003452 )
1985
24
Roentgenologic findings of the hydrolethalus syndrome. ( 6364021 )
1984
25
Hydrolethalus syndrome in consecutive African siblings. ( 6390321 )
1984
26
Prenatal detection of hydrolethalus syndrome. ( 6353401 )
1983
27
The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients. ( 7028327 )
1981

Variations for Hydrolethalus Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Hydrolethalus Syndrome 1:

76
# Symbol AA change Variation ID SNP ID
1 HYLS1 p.Asp211Gly VAR_031867 rs104894232

ClinVar genetic disease variations for Hydrolethalus Syndrome 1:

6 (show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 HYLS1 NM_145014.2(HYLS1): c.632A> G (p.Asp211Gly) single nucleotide variant Pathogenic rs104894232 GRCh37 Chromosome 11, 125769895: 125769895
2 HYLS1 NM_145014.2(HYLS1): c.632A> G (p.Asp211Gly) single nucleotide variant Pathogenic rs104894232 GRCh38 Chromosome 11, 125900000: 125900000
3 HYLS1 NM_145014.2(HYLS1): c.-121_-120dupTT duplication Benign rs60408033 GRCh38 Chromosome 11, 125891432: 125891433
4 HYLS1 NM_145014.2(HYLS1): c.-121_-120dupTT duplication Benign rs60408033 GRCh37 Chromosome 11, 125761327: 125761328
5 HYLS1 NM_145014.2(HYLS1): c.-81+11dupG duplication Uncertain significance rs372611002 GRCh37 Chromosome 11, 125761378: 125761378
6 HYLS1 NM_145014.2(HYLS1): c.-81+11dupG duplication Uncertain significance rs372611002 GRCh38 Chromosome 11, 125891483: 125891483
7 HYLS1 NM_145014.2(HYLS1): c.91T> C (p.Cys31Arg) single nucleotide variant Benign rs667782 GRCh37 Chromosome 11, 125769354: 125769354
8 HYLS1 NM_145014.2(HYLS1): c.91T> C (p.Cys31Arg) single nucleotide variant Benign rs667782 GRCh38 Chromosome 11, 125899459: 125899459
9 HYLS1 NM_145014.2(HYLS1): c.*76C> T single nucleotide variant Uncertain significance rs145788945 GRCh37 Chromosome 11, 125770239: 125770239
10 HYLS1 NM_145014.2(HYLS1): c.*76C> T single nucleotide variant Uncertain significance rs145788945 GRCh38 Chromosome 11, 125900344: 125900344
11 HYLS1 NM_145014.2(HYLS1): c.*293C> T single nucleotide variant Uncertain significance rs886047940 GRCh37 Chromosome 11, 125770456: 125770456
12 HYLS1 NM_145014.2(HYLS1): c.*293C> T single nucleotide variant Uncertain significance rs886047940 GRCh38 Chromosome 11, 125900561: 125900561
13 HYLS1 NM_145014.2(HYLS1): c.*329T> G single nucleotide variant Uncertain significance rs117414825 GRCh37 Chromosome 11, 125770492: 125770492
14 HYLS1 NM_145014.2(HYLS1): c.*329T> G single nucleotide variant Uncertain significance rs117414825 GRCh38 Chromosome 11, 125900597: 125900597
15 HYLS1 NM_145014.2(HYLS1): c.-503G> A single nucleotide variant Uncertain significance rs886047937 GRCh38 Chromosome 11, 125883645: 125883645
16 HYLS1 NM_145014.2(HYLS1): c.-503G> A single nucleotide variant Uncertain significance rs886047937 GRCh37 Chromosome 11, 125753540: 125753540
17 HYLS1 NM_145014.2(HYLS1): c.-454C> T single nucleotide variant Benign rs583355 GRCh38 Chromosome 11, 125883694: 125883694
18 HYLS1 NM_145014.2(HYLS1): c.-454C> T single nucleotide variant Benign rs583355 GRCh37 Chromosome 11, 125753589: 125753589
19 HYLS1 NM_145014.2(HYLS1): c.-122_-120dupTTT duplication Uncertain significance rs60408033 GRCh38 Chromosome 11, 125891431: 125891433
20 HYLS1 NM_145014.2(HYLS1): c.-122_-120dupTTT duplication Uncertain significance rs60408033 GRCh37 Chromosome 11, 125761326: 125761328
21 HYLS1 NM_145014.2(HYLS1): c.-120dupT duplication Uncertain significance rs60408033 GRCh37 Chromosome 11, 125761328: 125761328
22 HYLS1 NM_145014.2(HYLS1): c.-120dupT duplication Uncertain significance rs60408033 GRCh38 Chromosome 11, 125891433: 125891433
23 HYLS1 NM_145014.2(HYLS1): c.-81+27_-81+28dupAA duplication Benign rs11382127 GRCh37 Chromosome 11, 125761394: 125761395
24 HYLS1 NM_145014.2(HYLS1): c.-81+27_-81+28dupAA duplication Benign rs11382127 GRCh38 Chromosome 11, 125891499: 125891500
25 HYLS1 NM_145014.2(HYLS1): c.*262A> C single nucleotide variant Benign rs2236681 GRCh37 Chromosome 11, 125770425: 125770425
26 HYLS1 NM_145014.2(HYLS1): c.*262A> C single nucleotide variant Benign rs2236681 GRCh38 Chromosome 11, 125900530: 125900530
27 HYLS1 NM_145014.2(HYLS1): c.-516G> A single nucleotide variant Uncertain significance rs886047936 GRCh38 Chromosome 11, 125883632: 125883632
28 HYLS1 NM_145014.2(HYLS1): c.-516G> A single nucleotide variant Uncertain significance rs886047936 GRCh37 Chromosome 11, 125753527: 125753527
29 HYLS1 NM_145014.2(HYLS1): c.-487G> A single nucleotide variant Uncertain significance rs536727852 GRCh38 Chromosome 11, 125883661: 125883661
30 HYLS1 NM_145014.2(HYLS1): c.-487G> A single nucleotide variant Uncertain significance rs536727852 GRCh37 Chromosome 11, 125753556: 125753556
31 HYLS1 NM_145014.2(HYLS1): c.-159A> G single nucleotide variant Uncertain significance rs143124884 GRCh38 Chromosome 11, 125883989: 125883989
32 HYLS1 NM_145014.2(HYLS1): c.-159A> G single nucleotide variant Uncertain significance rs143124884 GRCh37 Chromosome 11, 125753884: 125753884
33 HYLS1 NM_145014.2(HYLS1): c.-112T> C single nucleotide variant Uncertain significance rs886047938 GRCh37 Chromosome 11, 125761336: 125761336
34 HYLS1 NM_145014.2(HYLS1): c.-112T> C single nucleotide variant Uncertain significance rs886047938 GRCh38 Chromosome 11, 125891441: 125891441
35 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11dupTG duplication Uncertain significance rs1555099863 GRCh37 Chromosome 11, 125761377: 125761378
36 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11dupTG duplication Uncertain significance rs1555099863 GRCh38 Chromosome 11, 125891482: 125891483
37 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insTA insertion Uncertain significance rs886047939 GRCh37 Chromosome 11, 125761377: 125761378
38 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insTA insertion Uncertain significance rs886047939 GRCh38 Chromosome 11, 125891482: 125891483
39 HYLS1 NM_145014.2(HYLS1): c.-81+10dupT duplication Uncertain significance rs1555099865 GRCh37 Chromosome 11, 125761377: 125761377
40 HYLS1 NM_145014.2(HYLS1): c.-81+10dupT duplication Uncertain significance rs1555099865 GRCh38 Chromosome 11, 125891482: 125891482
41 HYLS1 NM_145014.2(HYLS1): c.*107G> A single nucleotide variant Likely benign rs79600654 GRCh37 Chromosome 11, 125770270: 125770270
42 HYLS1 NM_145014.2(HYLS1): c.*107G> A single nucleotide variant Likely benign rs79600654 GRCh38 Chromosome 11, 125900375: 125900375
43 HYLS1 NM_145014.2(HYLS1): c.-402C> T single nucleotide variant Uncertain significance rs188322208 GRCh38 Chromosome 11, 125883746: 125883746
44 HYLS1 NM_145014.2(HYLS1): c.-402C> T single nucleotide variant Uncertain significance rs188322208 GRCh37 Chromosome 11, 125753641: 125753641
45 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insA insertion Uncertain significance rs886047939 GRCh37 Chromosome 11, 125761377: 125761378
46 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insA insertion Uncertain significance rs886047939 GRCh38 Chromosome 11, 125891482: 125891483
47 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insAA insertion Uncertain significance rs886047939 GRCh37 Chromosome 11, 125761377: 125761378
48 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insAA insertion Uncertain significance rs886047939 GRCh38 Chromosome 11, 125891482: 125891483
49 HYLS1 NM_145014.2(HYLS1): c.-81+28dupA duplication Uncertain significance rs11382127 GRCh37 Chromosome 11, 125761395: 125761395
50 HYLS1 NM_145014.2(HYLS1): c.-81+28dupA duplication Uncertain significance rs11382127 GRCh38 Chromosome 11, 125891500: 125891500

Copy number variations for Hydrolethalus Syndrome 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 16410 11 123500000 127400000 Copy number HYLS1 Hydrolethalus syndrome

Expression for Hydrolethalus Syndrome 1

Search GEO for disease gene expression data for Hydrolethalus Syndrome 1.

Pathways for Hydrolethalus Syndrome 1

Pathways related to Hydrolethalus Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.8 EVC2 KIF7 MKS1 SHH
2
Show member pathways
11.75 AHI1 BBS2 BBS4 MKS1 TMEM67
3 11.59 AHI1 MKS1 SHH
4
Show member pathways
11.44 EVC2 KIF7 SHH

GO Terms for Hydrolethalus Syndrome 1

Cellular components related to Hydrolethalus Syndrome 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.91 AHI1 BBS2 BBS4 EVC2 HYLS1 ICK
2 centrosome GO:0005813 9.89 AHI1 BBS4 HYLS1 MKS1 TMEM67
3 cell projection GO:0042995 9.81 AHI1 BBS2 BBS4 EVC2 HYLS1 ICK
4 centriole GO:0005814 9.76 AHI1 BBS4 HYLS1 MKS1
5 ciliary membrane GO:0060170 9.62 BBS2 BBS4 EVC2 TMEM67
6 ciliary transition zone GO:0035869 9.61 BBS4 MKS1 TMEM67
7 non-motile cilium GO:0097730 9.58 AHI1 BBS4 HYLS1
8 MKS complex GO:0036038 9.54 AHI1 MKS1 TMEM67
9 BBSome GO:0034464 9.51 BBS2 BBS4
10 ciliary basal body GO:0036064 9.43 AHI1 BBS2 BBS4 ICK KIF7 MKS1
11 cilium GO:0005929 9.28 AHI1 BBS2 BBS4 EVC2 HYLS1 ICK
12 cytoplasm GO:0005737 10.29 AFP AHI1 BBS2 BBS4 DDX25 EVC2

Biological processes related to Hydrolethalus Syndrome 1 according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.65 AHI1 MKS1 TMEM67
2 embryonic skeletal system development GO:0048706 9.61 MKS1 SHH
3 photoreceptor cell maintenance GO:0045494 9.61 BBS2 BBS4
4 positive regulation of multicellular organism growth GO:0040018 9.6 BBS2 BBS4
5 embryonic forelimb morphogenesis GO:0035115 9.59 ALX3 SHH
6 positive regulation of smoothened signaling pathway GO:0045880 9.58 KIF7 SHH
7 adult behavior GO:0030534 9.58 BBS2 BBS4
8 embryonic hindlimb morphogenesis GO:0035116 9.57 ALX3 SHH
9 branching morphogenesis of an epithelial tube GO:0048754 9.56 MKS1 SHH
10 brain morphogenesis GO:0048854 9.55 BBS2 BBS4
11 hindbrain development GO:0030902 9.54 AHI1 SHH
12 melanosome transport GO:0032402 9.52 BBS2 BBS4
13 protein localization to organelle GO:0033365 9.51 BBS2 BBS4
14 heart looping GO:0001947 9.5 AHI1 BBS4 SHH
15 cilium assembly GO:0060271 9.5 AHI1 BBS2 BBS4 HYLS1 ICK MKS1
16 striatum development GO:0021756 9.49 BBS2 BBS4
17 response to leptin GO:0044321 9.46 BBS2 BBS4
18 photoreceptor cell outer segment organization GO:0035845 9.43 AHI1 BBS4
19 non-motile cilium assembly GO:1905515 9.43 BBS2 BBS4 MKS1
20 leptin-mediated signaling pathway GO:0033210 9.4 BBS2 BBS4
21 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.37 BBS2 BBS4
22 cell projection organization GO:0030030 9.17 AHI1 BBS2 BBS4 HYLS1 ICK MKS1
23 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.16 BBS2 BBS4

Molecular functions related to Hydrolethalus Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 8.62 BBS2 BBS4

Sources for Hydrolethalus Syndrome 1

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