HLS1
MCID: HYD033
MIFTS: 56

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 57 75 29 6 73
Hydrolethalus Syndrome 57 12 76 53 37 13 6 44 15 73
Hls1 57 75
Hydrolethalus Syndrome, Type 1 40
Salonen-Herva-Norio Syndrome 12
Hydrolethalus 59
Hls 53

Characteristics:

Orphanet epidemiological data:

59
hydrolethalus
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

57
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:

32
hydrolethalus syndrome 1:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hydrolethalus Syndrome 1

UniProtKB/Swiss-Prot : 75 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, adrenal gland and uterus, and related phenotypes are low-set ears and agenesis of corpus callosum

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 : 76 Hydrolethalus syndrome (HLS), less commonly referred to as Salonen-Herva-Norio syndrome, is a rare... 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 155)
# Related Disease Score Top Affiliating Genes
1 pallister-hall syndrome 30.0 KIF7 SHH
2 polydactyly 29.9 BBS2 BBS4 MKS1 SHH
3 hydrolethalus syndrome 2 12.5
4 hepatic lipase deficiency 12.1
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 10.3 HYLS1 PUS3
9 encephalocele 10.2 MKS1 TMEM67
10 meckel syndrome, type 2 10.2 MKS1 TMEM67
11 meningocele 10.2 ADAMTS18 SATB2
12 meckel syndrome, type 3 10.2 MKS1 TMEM67
13 joubert syndrome with ocular anomalies 10.2 AHI1 MKS1
14 nephronophthisis 19 10.2 OFD1 TMEM67
15 acrofrontofacionasal dysostosis 10.2 ALX3 SATB2
16 lymphoma 10.2
17 orofaciodigital syndrome vi 10.2 KIF7 OFD1
18 hemifacial microsomia 10.2 ALX3 SATB2
19 joubert syndrome 6 10.1 AHI1 MKS1 TMEM67
20 senior-loken syndrome 1 10.1 AHI1 MKS1 TMEM67
21 coloboma of optic nerve 10.1 ALX3 OFD1
22 chlamydia pneumonia 10.1
23 chlamydia 10.1
24 uveitis 10.1
25 anterior uveitis 10.1
26 bardet-biedl syndrome 6 10.1 BBS2 BBS4
27 bardet-biedl syndrome 8 10.1 BBS2 BBS4
28 psoriasis 10.1
29 bardet-biedl syndrome 1 10.1 BBS2 BBS4 KIF7
30 acromelic frontonasal dysostosis 10.0 ALX3 SHH
31 bardet-biedl syndrome 15 10.0 BBS2 BBS4 TMEM67
32 mckusick-kaufman syndrome 10.0 BBS2 BBS4
33 endocrine-cerebroosteodysplasia 10.0 ICK SHH
34 sc phocomelia syndrome 10.0 AFP SATB2
35 nephronophthisis 11 10.0 AHI1 TMEM67
36 severe combined immunodeficiency 10.0
37 choriocarcinoma 10.0
38 combined t cell and b cell immunodeficiency 10.0
39 bardet-biedl syndrome 3 10.0 BBS2 BBS4
40 bardet-biedl syndrome 4 10.0 BBS2 BBS4 OFD1
41 coloboma of macula 10.0 SATB2 SHH TMEM67
42 meckel syndrome, type 6 10.0 AHI1 MKS1 OFD1 TMEM67
43 bardet-biedl syndrome 14 10.0 BBS2 TMEM67
44 maxillonasal dysplasia, binder type 10.0 ALX3 SATB2 SHH
45 cleft palate, isolated 10.0 ALX3 OFD1 SATB2
46 acrocallosal syndrome 10.0
47 anencephaly 10.0
48 pseudotrisomy 13 syndrome 10.0
49 short-rib thoracic dysplasia 10 with or without polydactyly 10.0
50 omphalocele 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hydrolethalus Syndrome 1:

59 32 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 very rare (1%) Frequent (79-30%) HP:0000369
2 agenesis of corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001274
3 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
4 laryngomalacia 59 32 frequent (33%) Frequent (79-30%) HP:0001601
5 cleft palate 59 32 Frequent (79-30%) HP:0000175
6 micrognathia 59 32 very rare (1%) Very frequent (99-80%) HP:0000347
7 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
8 micromelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002983
9 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
10 microphthalmia 59 32 very rare (1%) Occasional (29-5%) HP:0000568
11 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
12 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
13 polyhydramnios 59 32 very rare (1%) Very frequent (99-80%) HP:0001561
14 arrhinencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002139
15 absent septum pellucidum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001331
16 abnormality of the sense of smell 59 32 frequent (33%) Frequent (79-30%) HP:0004408
17 postaxial hand polydactyly 59 32 very rare (1%) Very frequent (99-80%) HP:0001162
18 anophthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000528
19 anencephaly 59 32 very rare (1%) Occasional (29-5%) HP:0002323
20 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
21 bifid uvula 59 32 frequent (33%) Frequent (79-30%) HP:0000193
22 abnormality of cardiovascular system morphology 59 32 frequent (33%) Frequent (79-30%) HP:0030680
23 submucous cleft hard palate 59 32 frequent (33%) Frequent (79-30%) HP:0000176
24 tracheal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0100682
25 gingival cleft 59 32 frequent (33%) Frequent (79-30%) HP:0030690
26 unilateral cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100333
27 abnormality of the fallopian tube 59 32 occasional (7.5%) Occasional (29-5%) HP:0011027
28 upper limb undergrowth 32 HP:0009824
29 intrauterine growth retardation 32 HP:0001511
30 broad neck 32 HP:0000475
31 abnormality of the pinna 32 very rare (1%) HP:0000377
32 talipes equinovarus 32 very rare (1%) HP:0001762
33 hypospadias 32 HP:0000047
34 ventricular septal defect 32 HP:0001629
35 tracheal stenosis 32 very rare (1%) HP:0002777
36 preaxial hand polydactyly 32 very rare (1%) HP:0001177
37 hydronephrosis 32 HP:0000126
38 abnormality of the respiratory system 59 Frequent (79-30%)
39 dandy-walker malformation 32 HP:0001305
40 accessory spleen 32 HP:0001747
41 omphalocele 32 HP:0001539
42 median cleft lip 32 HP:0000161
43 abnormal lung lobation 32 very rare (1%) HP:0002101
44 heterotopia 32 HP:0002282
45 laryngeal hypoplasia 32 very rare (1%) HP:0008749
46 bifid nose 32 HP:0011803
47 bifid uterus 32 very rare (1%) HP:0000136
48 abnormal cortical gyration 32 HP:0002536
49 agenesis of the diaphragm 32 HP:0008986
50 cleft in skull base 32 very rare (1%) HP:0009752

MGI Mouse Phenotypes related to Hydrolethalus Syndrome 1:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 AHI1 ALX3 BBS2 BBS4 DDX25 EVC2
2 growth/size/body region MP:0005378 10.27 ADAMTS18 AHI1 ALX3 BBS2 BBS4 EVC2
3 digestive/alimentary MP:0005381 10.25 ADAMTS18 ALX3 BBS2 BBS4 ICK KIF7
4 craniofacial MP:0005382 10.22 ALX3 BBS4 EVC2 ICK KIF7 MKS1
5 mortality/aging MP:0010768 10.18 AFP AHI1 ALX3 BBS4 EVC2 ICK
6 endocrine/exocrine gland MP:0005379 10.13 ADAMTS18 AFP ALX3 BBS2 BBS4 DDX25
7 limbs/digits/tail MP:0005371 10.13 ALX3 BBS2 EVC2 ICK KIF7 MKS1
8 nervous system MP:0003631 10.11 AHI1 ALX3 BBS2 BBS4 ICK KIF7
9 embryo MP:0005380 10.1 ALX3 BBS4 KIF7 MKS1 OFD1 SATB2
10 renal/urinary system MP:0005367 9.92 AHI1 BBS2 BBS4 ICK MKS1 OFD1
11 reproductive system MP:0005389 9.91 ADAMTS18 AFP ALX3 BBS2 BBS4 DDX25
12 respiratory system MP:0005388 9.76 ADAMTS18 ALX3 BBS4 KIF7 MKS1 OFD1
13 skeleton MP:0005390 9.61 ALX3 EVC2 ICK KIF7 MKS1 OFD1
14 vision/eye MP:0005391 9.23 ADAMTS18 AHI1 ALX3 BBS2 BBS4 KIF7

Drugs & Therapeutics for Hydrolethalus Syndrome 1

Search Clinical Trials , 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 29 HYLS1

Anatomical Context for Hydrolethalus Syndrome 1

MalaCards organs/tissues related to Hydrolethalus Syndrome 1:

41
Heart, Adrenal Gland, Uterus, Lung, Bone, Eye, Bone Marrow

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:

75
# 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.-503G> A single nucleotide variant Uncertain significance rs886047937 GRCh38 Chromosome 11, 125883645: 125883645
4 HYLS1 NM_145014.2(HYLS1): c.-503G> A single nucleotide variant Uncertain significance rs886047937 GRCh37 Chromosome 11, 125753540: 125753540
5 HYLS1 NM_145014.2(HYLS1): c.-454C> T single nucleotide variant Benign rs583355 GRCh38 Chromosome 11, 125883694: 125883694
6 HYLS1 NM_145014.2(HYLS1): c.-454C> T single nucleotide variant Benign rs583355 GRCh37 Chromosome 11, 125753589: 125753589
7 HYLS1 NM_145014.2(HYLS1): c.-122_-120dupTTT duplication Uncertain significance rs397810202 GRCh38 Chromosome 11, 125891431: 125891433
8 HYLS1 NM_145014.2(HYLS1): c.-122_-120dupTTT duplication Uncertain significance rs397810202 GRCh37 Chromosome 11, 125761326: 125761328
9 HYLS1 NM_145014.2(HYLS1): c.-120dupT duplication Uncertain significance rs397810202 GRCh37 Chromosome 11, 125761328: 125761328
10 HYLS1 NM_145014.2(HYLS1): c.-120dupT duplication Uncertain significance rs397810202 GRCh38 Chromosome 11, 125891433: 125891433
11 HYLS1 NM_145014.2(HYLS1): c.-81+27_-81+28dupAA duplication Benign rs11382127 GRCh37 Chromosome 11, 125761394: 125761395
12 HYLS1 NM_145014.2(HYLS1): c.-81+27_-81+28dupAA duplication Benign rs11382127 GRCh38 Chromosome 11, 125891499: 125891500
13 HYLS1 NM_145014.2(HYLS1): c.*262A> C single nucleotide variant Benign rs2236681 GRCh37 Chromosome 11, 125770425: 125770425
14 HYLS1 NM_145014.2(HYLS1): c.*262A> C single nucleotide variant Benign rs2236681 GRCh38 Chromosome 11, 125900530: 125900530
15 HYLS1 NM_145014.2(HYLS1): c.-516G> A single nucleotide variant Uncertain significance rs886047936 GRCh38 Chromosome 11, 125883632: 125883632
16 HYLS1 NM_145014.2(HYLS1): c.-516G> A single nucleotide variant Uncertain significance rs886047936 GRCh37 Chromosome 11, 125753527: 125753527
17 HYLS1 NM_145014.2(HYLS1): c.-487G> A single nucleotide variant Uncertain significance rs536727852 GRCh38 Chromosome 11, 125883661: 125883661
18 HYLS1 NM_145014.2(HYLS1): c.-487G> A single nucleotide variant Uncertain significance rs536727852 GRCh37 Chromosome 11, 125753556: 125753556
19 HYLS1 NM_145014.2(HYLS1): c.-159A> G single nucleotide variant Uncertain significance rs143124884 GRCh38 Chromosome 11, 125883989: 125883989
20 HYLS1 NM_145014.2(HYLS1): c.-159A> G single nucleotide variant Uncertain significance rs143124884 GRCh37 Chromosome 11, 125753884: 125753884
21 HYLS1 NM_145014.2(HYLS1): c.-112T> C single nucleotide variant Uncertain significance rs886047938 GRCh37 Chromosome 11, 125761336: 125761336
22 HYLS1 NM_145014.2(HYLS1): c.-112T> C single nucleotide variant Uncertain significance rs886047938 GRCh38 Chromosome 11, 125891441: 125891441
23 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11dupTG duplication Uncertain significance rs372611002 GRCh37 Chromosome 11, 125761377: 125761378
24 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11dupTG duplication Uncertain significance rs372611002 GRCh38 Chromosome 11, 125891482: 125891483
25 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insTA insertion Uncertain significance rs886047939 GRCh37 Chromosome 11, 125761377: 125761378
26 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insTA insertion Uncertain significance rs886047939 GRCh38 Chromosome 11, 125891482: 125891483
27 HYLS1 NM_145014.2(HYLS1): c.-81+10dupT duplication Uncertain significance rs886047939 GRCh37 Chromosome 11, 125761377: 125761377
28 HYLS1 NM_145014.2(HYLS1): c.-81+10dupT duplication Uncertain significance rs886047939 GRCh38 Chromosome 11, 125891482: 125891482
29 HYLS1 NM_145014.2(HYLS1): c.*107G> A single nucleotide variant Likely benign rs79600654 GRCh37 Chromosome 11, 125770270: 125770270
30 HYLS1 NM_145014.2(HYLS1): c.*107G> A single nucleotide variant Likely benign rs79600654 GRCh38 Chromosome 11, 125900375: 125900375
31 HYLS1 NM_145014.2(HYLS1): c.-402C> T single nucleotide variant Uncertain significance rs188322208 GRCh38 Chromosome 11, 125883746: 125883746
32 HYLS1 NM_145014.2(HYLS1): c.-402C> T single nucleotide variant Uncertain significance rs188322208 GRCh37 Chromosome 11, 125753641: 125753641
33 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insA insertion Uncertain significance rs886047939 GRCh37 Chromosome 11, 125761377: 125761378
34 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insA insertion Uncertain significance rs886047939 GRCh38 Chromosome 11, 125891482: 125891483
35 HYLS1 NM_145014.2(HYLS1): c.*329T> G single nucleotide variant Uncertain significance rs117414825 GRCh38 Chromosome 11, 125900597: 125900597
36 HYLS1 NM_145014.2(HYLS1): c.*329T> G single nucleotide variant Uncertain significance rs117414825 GRCh37 Chromosome 11, 125770492: 125770492
37 HYLS1 NM_145014.2(HYLS1): c.*293C> T single nucleotide variant Uncertain significance rs886047940 GRCh38 Chromosome 11, 125900561: 125900561
38 HYLS1 NM_145014.2(HYLS1): c.*293C> T single nucleotide variant Uncertain significance rs886047940 GRCh37 Chromosome 11, 125770456: 125770456
39 HYLS1 NM_145014.2(HYLS1): c.*76C> T single nucleotide variant Uncertain significance rs145788945 GRCh38 Chromosome 11, 125900344: 125900344
40 HYLS1 NM_145014.2(HYLS1): c.*76C> T single nucleotide variant Uncertain significance rs145788945 GRCh37 Chromosome 11, 125770239: 125770239
41 HYLS1 NM_145014.2(HYLS1): c.91T> C (p.Cys31Arg) single nucleotide variant Benign rs667782 GRCh38 Chromosome 11, 125899459: 125899459
42 HYLS1 NM_145014.2(HYLS1): c.91T> C (p.Cys31Arg) single nucleotide variant Benign rs667782 GRCh37 Chromosome 11, 125769354: 125769354
43 HYLS1 NM_145014.2(HYLS1): c.-81+11dupG duplication Uncertain significance rs372611002 GRCh38 Chromosome 11, 125891483: 125891483
44 HYLS1 NM_145014.2(HYLS1): c.-81+11dupG duplication Uncertain significance rs372611002 GRCh37 Chromosome 11, 125761378: 125761378
45 HYLS1 NM_145014.2(HYLS1): c.-121_-120dupTT duplication Benign rs397810202 GRCh37 Chromosome 11, 125761327: 125761328
46 HYLS1 NM_145014.2(HYLS1): c.-121_-120dupTT duplication Benign rs397810202 GRCh38 Chromosome 11, 125891432: 125891433
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
11.89 EVC2 KIF7 MKS1 OFD1 SHH
2
Show member pathways
11.83 AHI1 BBS2 BBS4 MKS1 OFD1 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 14)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.96 AHI1 BBS2 BBS4 EVC2 HYLS1 ICK
2 centrosome GO:0005813 9.91 AHI1 BBS4 HYLS1 MKS1 OFD1 TMEM67
3 cell projection GO:0042995 9.85 AHI1 BBS2 BBS4 EVC2 HYLS1 ICK
4 microtubule organizing center GO:0005815 9.83 BBS2 BBS4 MKS1 OFD1
5 centriole GO:0005814 9.72 AHI1 BBS4 HYLS1 MKS1 OFD1
6 ciliary transition zone GO:0035869 9.67 BBS4 MKS1 TMEM67
7 ciliary membrane GO:0060170 9.67 BBS2 BBS4 EVC2 TMEM67
8 non-motile cilium GO:0097730 9.65 AHI1 BBS4 HYLS1
9 MKS complex GO:0036038 9.58 AHI1 MKS1 TMEM67
10 centriolar satellite GO:0034451 9.54 BBS4 OFD1
11 BBSome GO:0034464 9.51 BBS2 BBS4
12 ciliary basal body GO:0036064 9.5 AHI1 BBS2 BBS4 ICK KIF7 MKS1
13 cilium GO:0005929 9.32 AHI1 BBS2 BBS4 EVC2 HYLS1 ICK
14 cytoplasm GO:0005737 10.33 AFP AHI1 BBS2 BBS4 CD96 DDX25

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 adult behavior GO:0030534 9.6 BBS2 BBS4
2 embryonic hindlimb morphogenesis GO:0035116 9.59 ALX3 SHH
3 branching morphogenesis of an epithelial tube GO:0048754 9.58 MKS1 SHH
4 heart looping GO:0001947 9.58 AHI1 BBS4 SHH
5 brain morphogenesis GO:0048854 9.57 BBS2 BBS4
6 embryonic pattern specification GO:0009880 9.56 SATB2 SHH
7 cilium assembly GO:0060271 9.56 AHI1 BBS2 BBS4 HYLS1 ICK MKS1
8 hindbrain development GO:0030902 9.55 AHI1 SHH
9 melanosome transport GO:0032402 9.54 BBS2 BBS4
10 osteoblast development GO:0002076 9.52 SATB2 SHH
11 protein localization to organelle GO:0033365 9.51 BBS2 BBS4
12 non-motile cilium assembly GO:1905515 9.5 BBS2 BBS4 MKS1
13 striatum development GO:0021756 9.49 BBS2 BBS4
14 response to leptin GO:0044321 9.48 BBS2 BBS4
15 photoreceptor cell outer segment organization GO:0035845 9.46 AHI1 BBS4
16 ciliary basal body-plasma membrane docking GO:0097711 9.46 AHI1 MKS1 OFD1 TMEM67
17 leptin-mediated signaling pathway GO:0033210 9.43 BBS2 BBS4
18 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.37 BBS2 BBS4
19 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.26 BBS2 BBS4
20 cell projection organization GO:0030030 9.23 AHI1 BBS2 BBS4 HYLS1 ICK MKS1
21 multicellular organism development GO:0007275 10.05 AHI1 ALX3 DDX25 ICK SATB2 SHH

Sources for Hydrolethalus Syndrome 1

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
Content
Loading form....