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 57 74 29 6 72
Hydrolethalus Syndrome 57 12 75 53 37 29 13 6 44 15 72
Hls1 57 74
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:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050779
KEGG 37 H01265
ICD10 33 Q87.8
MESH via Orphanet 45 C536079
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C2931104
Orphanet 59 ORPHA2189
MedGen 42 C1856016
UMLS 72 C1856016 C2931104

Summaries for Hydrolethalus Syndrome 1

UniProtKB/Swiss-Prot : 74 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 encephalocele and pallister-hall syndrome. 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, brain and uterus, 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.

KEGG : 37
Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome leading to stillbirth or death shortly after birth. HLS is characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia and polydactyly. HLS is caused by mutations in HYLS1 and KIF7. Both genes code for ciliary or centriolar proteins that seem to be involved in early embryonic development of the midline.

Wikipedia : 75 Hydrolethalus syndrome (HLS) is a rare genetic disorder that causes improper fetal development,... more...

More information from OMIM: 236680 PS236680

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 373)
# Related Disease Score Top Affiliating Genes
1 encephalocele 30.7 TMEM67 MKS1
2 pallister-hall syndrome 30.2 SHH KIF7
3 bardet-biedl syndrome 1 30.1 KIF7 BBS4 BBS2
4 polydactyly 29.9 SHH MKS1 BBS4 BBS2
5 patau syndrome 29.9 TMEM67 AFP
6 greig cephalopolysyndactyly syndrome 29.8 SHH KIF7
7 joubert syndrome 1 28.7 TMEM67 SHH MKS1 KIF7 HYLS1 AHI1
8 hydrolethalus syndrome 2 12.7
9 lymphoma, hodgkin, classic 12.4
10 hepatic lipase deficiency 12.3
11 3-hydroxy-3-methylglutaryl-coa lyase deficiency 12.1
12 lipase deficiency, combined 11.4
13 occipital encephalocele 10.7
14 mental retardation, autosomal recessive 55 10.6 PUS3 HYLS1
15 inflammatory spondylopathy 10.6
16 spondylitis 10.6
17 spondyloarthropathy 1 10.6
18 pustulosis of palm and sole 10.5
19 psoriasis 10.5
20 meckel syndrome, type 2 10.5 TMEM67 MKS1
21 hydrocephalus 10.5
22 congenital hydrocephalus 10.5
23 meckel syndrome, type 3 10.5 TMEM67 MKS1
24 joubert syndrome with ocular anomalies 10.5 MKS1 AHI1
25 multiple sclerosis 10.4
26 myasthenia gravis 10.3
27 rheumatic disease 10.3
28 arthritis 10.3
29 diabetes mellitus 10.3
30 polyhydramnios 10.3
31 uveitis 10.3
32 enthesopathy 10.3
33 choriocarcinoma 10.3
34 lymphoma 10.2
35 leukemia 10.2
36 nephronophthisis 11 10.2 TMEM67 AHI1
37 chlamydia pneumonia 10.2
38 chlamydia 10.2
39 acute leukemia 10.2
40 cleft lip 10.2
41 rheumatoid arthritis 10.2
42 lymphocytic leukemia 10.2
43 joubert syndrome 6 10.2 TMEM67 MKS1 AHI1
44 bardet-biedl syndrome 6 10.2 BBS4 BBS2
45 meckel syndrome, type 6 10.2 TMEM67 MKS1 AHI1
46 aplastic anemia 10.2
47 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
48 lupus erythematosus 10.2
49 senior-loken syndrome 1 10.2 TMEM67 MKS1 AHI1
50 bardet-biedl syndrome 8 10.2 BBS4 BBS2

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:

59 32 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001274
2 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
3 micrognathia 59 32 very rare (1%) Very frequent (99-80%) HP:0000347
4 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
5 polyhydramnios 59 32 very rare (1%) Very frequent (99-80%) HP:0001561
6 absent septum pellucidum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001331
7 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
8 postaxial hand polydactyly 59 32 very rare (1%) Very frequent (99-80%) HP:0001162
9 laryngomalacia 59 32 frequent (33%) Frequent (79-30%) HP:0001601
10 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
11 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
12 abnormality of the sense of smell 59 32 frequent (33%) Frequent (79-30%) HP:0004408
13 bifid uvula 59 32 frequent (33%) Frequent (79-30%) HP:0000193
14 abnormality of cardiovascular system morphology 59 32 frequent (33%) Frequent (79-30%) HP:0030680
15 submucous cleft hard palate 59 32 frequent (33%) Frequent (79-30%) HP:0000176
16 tracheal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0100682
17 unilateral cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100333
18 gingival cleft 59 32 frequent (33%) Frequent (79-30%) HP:0030690
19 micromelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002983
20 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
21 microphthalmia 59 32 very rare (1%) Occasional (29-5%) HP:0000568
22 anophthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000528
23 arrhinencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002139
24 abnormality of the fallopian tube 59 32 occasional (7.5%) Occasional (29-5%) HP:0011027
25 low-set ears 59 32 very rare (1%) Frequent (79-30%) HP:0000369
26 anencephaly 59 32 very rare (1%) Occasional (29-5%) HP:0002323
27 abnormality of the pinna 32 very rare (1%) HP:0000377
28 talipes equinovarus 32 very rare (1%) HP:0001762
29 tracheal stenosis 32 very rare (1%) HP:0002777
30 preaxial hand polydactyly 32 very rare (1%) HP:0001177
31 abnormal lung lobation 32 very rare (1%) HP:0002101
32 laryngeal hypoplasia 32 very rare (1%) HP:0008749
33 bifid uterus 32 very rare (1%) HP:0000136
34 severe hydrocephalus 32 very rare (1%) HP:0006882
35 cleft in skull base 32 very rare (1%) HP:0009752
36 cleft palate 59 32 Frequent (79-30%) HP:0000175
37 upper limb undergrowth 32 HP:0009824
38 intrauterine growth retardation 32 HP:0001511
39 broad neck 32 HP:0000475
40 hypospadias 32 HP:0000047
41 hydronephrosis 32 HP:0000126
42 dandy-walker malformation 32 HP:0001305
43 ventricular septal defect 32 HP:0001629
44 abnormality of the respiratory system 59 Frequent (79-30%)
45 accessory spleen 32 HP:0001747
46 omphalocele 32 HP:0001539
47 median cleft lip 32 HP:0000161
48 abnormal cortical gyration 32 HP:0002536
49 bifid nose 32 HP:0011803
50 complete atrioventricular canal defect 32 HP:0001674

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

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 External Features:
omphalocele

Head And Neck Nose:
bifid nose

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

Respiratory Lung:
defective lobation
pulmonary agenesis

Abdomen Gastrointestinal:
incomplete bowel rotation

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

Genitourinary Kidneys:
hydronephrosis

Respiratory Airways:
tracheal stenosis
bronchial stenosis

Abdomen Spleen:
accessory spleen

Skeletal Feet:
preaxial polydactyly
club feet
hallux duplication

Skeletal Hands:
postaxial polydactyly

Respiratory Larynx:
hypoplastic larynx

Chest Diaphragm:
agenesis of diaphragm

Genitourinary Internal Genitalia Female:
duplicated uterus
vaginal malformation

Endocrine Features:
dysplastic adrenal glands

Clinical features from OMIM:

236680

MGI Mouse Phenotypes related to Hydrolethalus Syndrome 1:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 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 Molecular 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 29 HYLS1
2 Hydrolethalus Syndrome 29

Anatomical Context for Hydrolethalus Syndrome 1

MalaCards organs/tissues related to Hydrolethalus Syndrome 1:

41
Heart, Brain, Uterus, Adrenal Gland, Pituitary, Spleen, Eye

Publications for Hydrolethalus Syndrome 1

Articles related to Hydrolethalus Syndrome 1:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. 38 8 71
15843405 2005
2
An Asian girl with a 'milder' form of the Hydrolethalus syndrome. 38 8
11152149 2001
3
Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. 38 8
10486328 1999
4
Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis. 38 8
10210131 1999
5
Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome. 38 8
8828988 1996
6
Two consecutive hydrolethalus syndrome-affected pregnancies in a nonconsanguinous black couple: discussion of problems in prenatal differential diagnosis of midline malformation syndromes. 38 8
8322817 1993
7
Hydrolethalus syndrome. 38 8
2074561 1990
8
Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome. 38 8
2407847 1990
9
Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis. 38 8
3321994 1987
10
Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation. 38 8
3296755 1987
11
Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective. 38 8
4003452 1985
12
The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients. 38 8
7028327 1981
13
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 71
21552264 2011
14
Centrioles initiate cilia assembly but are dispensable for maturation and maintenance in C. elegans. 38
28411189 2017
15
The hydrolethalus syndrome protein HYLS-1 regulates formation of the ciliary gate. 38
27534274 2016
16
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. 38
26830932 2016
17
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. 38
27069622 2016
18
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature. 38
26648833 2015
19
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. 38
23142271 2013
20
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. 38
23276573 2012
21
Lethal evolution of a newborn with consistent features of hydrolethalus syndrome--Romanian patient. 38
22029171 2011
22
The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation. 38
19656802 2009
23
Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level. 38
19400947 2009
24
Syndromes, disorders and maternal risk factors associated with neural tube defects (V). 38
18935987 2008
25
Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. 38
18648327 2008
26
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 38
17638618 2007
27
Meckel syndrome: genetics, perinatal findings, and differential diagnosis. 38
17389183 2007
28
Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes. 38
16936370 2006
29
Pseudotrisomy 13: clinical findings and genetic implications. 38
16260883 2005
30
First-trimester diagnosis of hydrolethalus syndrome in a Chinese family. 38
15305343 2004
31
Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: a case report. 38
15316965 2004
32
[Hydrolethalus syndrome]. 38
11462706 2001
33
Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome? 38
10756349 2000
34
Hydrolethalus: a midline malformation syndrome with optic nerve coloboma and hypoplasia. 38
8740232 1996
35
Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS? 38
7645593 1995
36
First-trimester diagnosis of hydrolethalus syndrome. 38
7850595 1995
37
Sonographic detection of hydrolethalus syndrome. 38
8006193 1994
38
A fetus with an abnormal chromosome 7 and possible hydrolethalus syndrome. 38
8205324 1994
39
[Hydrolethalus syndrome]. 38
8451226 1993
40
Overlap between Majewski and hydrolethalus syndromes: a report of two cases. 38
1415345 1992
41
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. 38
1776653 1991
42
Twin fetuses with abnormalities that overlap with three midline malformation complexes. 38
1785640 1991
43
Familial holoprosencephaly, heart defects, and polydactyly. 38
1785646 1991
44
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. 38
1865466 1991
45
Sonographic detection of hydrolethalus syndrome. 38
1846379 1991
46
[7-week-old infant with a hydrolethalus syndrome: case report, differential diagnosis and literature review]. 38
2266703 1990
47
[Holoprosencephaly, polydactyly, cardiopathy: new syndrome or a new case of hydrolethalus?]. 38
3216192 1988
48
The hydrolethalus syndrome. 38
3580557 1987
49
Roentgenologic findings of the hydrolethalus syndrome. 38
6364021 1984
50
Hydrolethalus syndrome in consecutive African siblings. 38
6390321 1984

Variations for Hydrolethalus Syndrome 1

ClinVar genetic disease variations for Hydrolethalus Syndrome 1:

6 (show all 39)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HYLS1 NM_145014.2(HYLS1): c.632A> G (p.Asp211Gly) single nucleotide variant Pathogenic rs104894232 11:125769895-125769895 11:125900000-125900000
2 HYLS1 NM_145014.2(HYLS1): c.-503G> A single nucleotide variant Uncertain significance rs886047937 11:125753540-125753540 11:125883645-125883645
3 HYLS1 NM_145014.2(HYLS1): c.-81+11dup duplication Uncertain significance rs372611002 11:125761378-125761378 11:125891483-125891483
4 HYLS1 NM_145014.2(HYLS1): c.-122_-120dup duplication Uncertain significance rs60408033 11:125761326-125761328 11:125891431-125891433
5 HYLS1 NM_145014.2(HYLS1): c.-120dup duplication Uncertain significance rs60408033 11:125761328-125761328 11:125891433-125891433
6 HYLS1 NM_145014.2(HYLS1): c.-402C> T single nucleotide variant Uncertain significance rs188322208 11:125753641-125753641 11:125883746-125883746
7 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insA insertion Uncertain significance rs886047939 11:125761377-125761378 11:125891482-125891483
8 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insAA insertion Uncertain significance rs886047939 11:125761377-125761378 11:125891482-125891483
9 HYLS1 NM_145014.2(HYLS1): c.-81+28dupA duplication Uncertain significance rs11382127 11:125761395-125761395 11:125891500-125891500
10 HYLS1 NM_145014.2(HYLS1): c.86A> C (p.His29Pro) single nucleotide variant Uncertain significance rs200146258 11:125769349-125769349 11:125899454-125899454
11 HYLS1 NM_031307.4(PUS3): c.-47+2573A> C single nucleotide variant Uncertain significance rs117414825 11:125770492-125770492 11:125900597-125900597
12 HYLS1 NM_031307.4(PUS3): c.-47+2609G> A single nucleotide variant Uncertain significance rs886047940 11:125770456-125770456 11:125900561-125900561
13 HYLS1 NM_031307.4(PUS3): c.-47+2826G> A single nucleotide variant Uncertain significance rs145788945 11:125770239-125770239 11:125900344-125900344
14 HYLS1 NM_145014.2(HYLS1): c.55C> T (p.Arg19Ter) single nucleotide variant Uncertain significance rs143088549 11:125769318-125769318 11:125899423-125899423
15 HYLS1 NM_145014.2(HYLS1): c.220_221del (p.Glu74fs) deletion Uncertain significance rs1555102458 11:125769481-125769483 11:125899588-125899589
16 HYLS1 NM_145014.2(HYLS1): c.893_895CTT[1] (p.Ser299del) short repeat Uncertain significance rs771348153 11:125770155-125770158 11:125900264-125900266
17 HYLS1 NM_145014.2(HYLS1): c.73_78del (p.Thr25_Ala26del) deletion Uncertain significance rs1555102367 11:125769332-125769338 11:125899441-125899446
18 HYLS1 NM_145014.2(HYLS1): c.536_544del (p.Ser179_Ala181del) deletion Uncertain significance rs1319206829 11:125769797-125769806 11:125899904-125899912
19 HYLS1 NM_145014.2(HYLS1): c.459del (p.Lys153fs) deletion Uncertain significance rs1555102572 11:125769717-125769718 11:125899827-125899827
20 HYLS1 NM_145014.2(HYLS1): c.145_147del (p.Asp49del) deletion Uncertain significance rs1211996582 11:125769405-125769408 11:125899513-125899515
21 HYLS1 NM_145014.2(HYLS1): c.167_169del (p.Val56del) deletion Uncertain significance rs774246149 11:125769427-125769430 11:125899535-125899537
22 HYLS1 NM_145014.2(HYLS1): c.284_286dup (p.Lys95dup) duplication Uncertain significance rs1555102499 11:125769544-125769544 11:125899652-125899654
23 HYLS1 NM_145014.2(HYLS1): c.851_859del (p.Ala284_Gly286del) deletion Uncertain significance rs1555102865 11:125770111-125770120 11:125900219-125900227
24 HYLS1 NM_145014.2(HYLS1): c.-516G> A single nucleotide variant Uncertain significance rs886047936 11:125753527-125753527 11:125883632-125883632
25 HYLS1 NM_145014.2(HYLS1): c.-487G> A single nucleotide variant Uncertain significance rs536727852 11:125753556-125753556 11:125883661-125883661
26 HYLS1 NM_145014.2(HYLS1): c.-159A> G single nucleotide variant Uncertain significance rs143124884 11:125753884-125753884 11:125883989-125883989
27 HYLS1 NM_145014.2(HYLS1): c.-112T> C single nucleotide variant Uncertain significance rs886047938 11:125761336-125761336 11:125891441-125891441
28 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11dup duplication Uncertain significance rs1555099863 11:125761377-125761378 11:125891482-125891483
29 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11insTA insertion Uncertain significance rs886047939 11:125761377-125761378 11:125891482-125891483
30 HYLS1 NM_145014.2(HYLS1): c.-81+10dupT duplication Uncertain significance rs1555099865 11:125761377-125761377 11:125891482-125891482
31 HYLS1 NM_031307.4(PUS3): c.-47+2534A> G single nucleotide variant Uncertain significance rs866111133 11:125770531-125770531 11:125900636-125900636
32 HYLS1 NM_145014.2(HYLS1): c.468A> G (p.Leu156=) single nucleotide variant Uncertain significance rs138284572 11:125769731-125769731 11:125899836-125899836
33 HYLS1 NM_145014.2(HYLS1): c.298C> T (p.Arg100Cys) single nucleotide variant Uncertain significance rs374420210 11:125769561-125769561 11:125899666-125899666
34 HYLS1 NM_031307.4(PUS3): c.-47+2795C> T single nucleotide variant Likely benign rs79600654 11:125770270-125770270 11:125900375-125900375
35 HYLS1 NM_145014.2(HYLS1): c.91T> C (p.Cys31Arg) single nucleotide variant Benign rs667782 11:125769354-125769354 11:125899459-125899459
36 HYLS1 NM_145014.2(HYLS1): c.-81+27_-81+28dupAA duplication Benign rs11382127 11:125761394-125761395 11:125891499-125891500
37 HYLS1 NM_031307.4(PUS3): c.-47+2640T> G single nucleotide variant Benign rs2236681 11:125770425-125770425 11:125900530-125900530
38 HYLS1 NM_145014.2(HYLS1): c.-121_-120dup duplication Benign rs60408033 11:125761327-125761328 11:125891432-125891433
39 HYLS1 NM_145014.2(HYLS1): c.-454C> T single nucleotide variant Benign rs583355 11:125753589-125753589 11:125883694-125883694

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

74
# Symbol AA change Variation ID SNP ID
1 HYLS1 p.Asp211Gly VAR_031867 rs104894232

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 SHH MKS1 KIF7 EVC2
2
Show member pathways
11.75 TMEM67 MKS1 BBS4 BBS2 AHI1
3 11.49 SHH MKS1 AHI1

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 TMEM67 MKS1 KIF7 ICK HYLS1 EVC2
2 centrosome GO:0005813 9.89 TMEM67 MKS1 HYLS1 BBS4 AHI1
3 cell projection GO:0042995 9.81 TMEM67 MKS1 KIF7 ICK HYLS1 EVC2
4 centriole GO:0005814 9.76 MKS1 HYLS1 BBS4 AHI1
5 ciliary membrane GO:0060170 9.62 TMEM67 EVC2 BBS4 BBS2
6 ciliary transition zone GO:0035869 9.61 TMEM67 MKS1 BBS4
7 non-motile cilium GO:0097730 9.58 HYLS1 BBS4 AHI1
8 MKS complex GO:0036038 9.54 TMEM67 MKS1 AHI1
9 BBSome GO:0034464 9.51 BBS4 BBS2
10 ciliary basal body GO:0036064 9.43 MKS1 KIF7 ICK BBS4 BBS2 AHI1
11 cilium GO:0005929 9.28 TMEM67 MKS1 KIF7 ICK HYLS1 EVC2
12 cytoplasm GO:0005737 10.29 TMEM67 PUS3 PKNOX2 MKS1 KIF7 ICK

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

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 BBS4 BBS2

Sources for Hydrolethalus Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....