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 56 12 73 29 6 71
Hydrolethalus Syndrome 56 12 74 52 36 29 13 6 43 15 71
Hls1 56 12 73
Hydrolethalus Syndrome, Type 1 39
Salonen-Herva-Norio Syndrome 12
Hydrolethalus 58
Hls 52

Characteristics:

Orphanet epidemiological data:

58
hydrolethalus
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

56
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:

31
hydrolethalus syndrome 1:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Hydrolethalus Syndrome 1

UniProtKB/Swiss-Prot : 73 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 joubert syndrome with jeune asphyxiating thoracic dystrophy and acrocallosal syndrome. An important gene associated with Hydrolethalus Syndrome 1 is HYLS1 (HYLS1 Centriolar And Ciliogenesis Associated), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include heart, brain and liver, 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 : 36 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 : 74 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 420)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome with jeune asphyxiating thoracic dystrophy 30.5 KIAA0586 IFT140
2 acrocallosal syndrome 30.0 RPGRIP1L KIF7 HYLS1
3 short rib-polydactyly syndrome 29.7 WDR60 WDR35 WDR34 TTC21B
4 polydactyly 29.5 WDR60 WDR35 WDR34 TTC21B MKS1 KIAA0586
5 cleft lip/palate 29.2 WDR60 WDR35 WDR34 TTC21B KIAA0586 IFT140
6 encephalocele 29.0 TMEM67 MKS1 CEP290 CC2D2A B9D1
7 ciliopathy 28.6 TTC21B TMEM67 RPGRIP1L KIF7 KIAA0586 IFT140
8 orofaciodigital syndrome 28.3 TMEM67 MKS1 KIF7 KIAA0586 CEP290 CC2D2A
9 orofaciodigital syndrome vi 27.3 TMEM67 RPGRIP1L MKS1 KIF7 CEP290 CC2D2A
10 coloboma of macula 27.0 TTC21B TMEM67 RPGRIP1L MKS1 KIF7 KIAA0586
11 joubert syndrome 1 25.4 WDR35 TTC21B TMEM67 RPGRIP1L MKS1 KIF7
12 hydrolethalus syndrome 2 12.8
13 lymphoma, hodgkin, classic 12.4
14 hepatic lipase deficiency 12.3
15 3-hydroxy-3-methylglutaryl-coa lyase deficiency 12.1
16 lipase deficiency, combined 11.4
17 occipital encephalocele 10.7
18 inflammatory spondylopathy 10.6
19 spondylitis 10.6
20 spondyloarthropathy 1 10.6
21 orofaciodigital syndrome v 10.6 KIAA0586 C2CD3
22 pustulosis of palm and sole 10.5
23 psoriasis 10.5
24 hydrocephalus 10.5
25 syndrome with a dandy-walker malformation as major feature 10.5 PUS3 HYLS1
26 genetic syndrome with a dandy-walker malformation as major feature 10.5 PUS3 HYLS1
27 mental retardation, autosomal recessive 55 10.4 PUS3 HYLS1
28 joubert syndrome 26 10.4 TMEM67 KIF7
29 myasthenia gravis 10.3
30 rheumatic disease 10.3
31 arthritis 10.3
32 joubert syndrome 23 10.3 KIF7 KIAA0586 CEP41
33 joubert syndrome 15 10.3 KIF7 KIAA0586 CEP41
34 short-rib thoracic dysplasia 8 with or without polydactyly 10.3 WDR60 WDR34
35 short-rib thoracic dysplasia 11 with or without polydactyly 10.3 WDR60 WDR34
36 multiple sclerosis 10.3
37 lymphoma 10.3
38 diabetes mellitus 10.3
39 polyhydramnios 10.3
40 uveitis 10.3
41 enthesopathy 10.3
42 choriocarcinoma 10.3
43 endocrine-cerebroosteodysplasia 10.3 KIF7 KIAA0586 ARL13B
44 leukemia 10.2
45 chlamydia pneumonia 10.2
46 chlamydia 10.2
47 acute leukemia 10.2
48 cleft lip 10.2
49 rheumatoid arthritis 10.2
50 lymphocytic leukemia 10.2

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:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
2 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
3 micrognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000347
4 polyhydramnios 58 31 very rare (1%) Very frequent (99-80%) HP:0001561
5 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
6 absent septum pellucidum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001331
7 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
8 postaxial hand polydactyly 58 31 very rare (1%) Very frequent (99-80%) HP:0001162
9 laryngomalacia 58 31 frequent (33%) Frequent (79-30%) HP:0001601
10 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
11 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
12 abnormality of the sense of smell 58 31 frequent (33%) Frequent (79-30%) HP:0004408
13 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
14 abnormality of cardiovascular system morphology 58 31 frequent (33%) Frequent (79-30%) HP:0030680
15 submucous cleft hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0000176
16 tracheal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0100682
17 unilateral cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0100333
18 gingival cleft 58 31 frequent (33%) Frequent (79-30%) HP:0030690
19 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
20 micromelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002983
21 microphthalmia 58 31 very rare (1%) Occasional (29-5%) HP:0000568
22 anophthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000528
23 arrhinencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002139
24 abnormality of the fallopian tube 58 31 occasional (7.5%) Occasional (29-5%) HP:0011027
25 low-set ears 58 31 very rare (1%) Frequent (79-30%) HP:0000369
26 anencephaly 58 31 very rare (1%) Occasional (29-5%) HP:0002323
27 abnormality of the pinna 31 very rare (1%) HP:0000377
28 talipes equinovarus 31 very rare (1%) HP:0001762
29 tracheal stenosis 31 very rare (1%) HP:0002777
30 preaxial hand polydactyly 31 very rare (1%) HP:0001177
31 abnormal lung lobation 31 very rare (1%) HP:0002101
32 laryngeal hypoplasia 31 very rare (1%) HP:0008749
33 bifid uterus 31 very rare (1%) HP:0000136
34 severe hydrocephalus 31 very rare (1%) HP:0006882
35 cleft in skull base 31 very rare (1%) HP:0009752
36 cleft palate 58 31 Frequent (79-30%) HP:0000175
37 intrauterine growth retardation 31 HP:0001511
38 ventricular septal defect 31 HP:0001629
39 upper limb undergrowth 31 HP:0009824
40 broad neck 31 HP:0000475
41 hypospadias 31 HP:0000047
42 hydronephrosis 31 HP:0000126
43 dandy-walker malformation 31 HP:0001305
44 abnormality of the respiratory system 58 Frequent (79-30%)
45 accessory spleen 31 HP:0001747
46 omphalocele 31 HP:0001539
47 median cleft lip 31 HP:0000161
48 abnormal cortical gyration 31 HP:0002536
49 bifid nose 31 HP:0011803
50 duplication of phalanx of hallux 31 HP:0010066

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
malformed ears

Growth Other:
intrauterine growth retardation

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

Head And Neck Eyes:
microphthalmia

Genitourinary Kidneys:
hydronephrosis

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 Face:
micrognathia

Cardiovascular Heart:
ventricular septal defect
atrioventricular canal

Head And Neck Neck:
broad neck

Genitourinary External Genitalia Male:
hypospadias

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:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.39 ARL13B B9D1 C2CD3 CC2D2A CEP290 DDX25
2 cardiovascular system MP:0005385 10.37 B9D1 C2CD3 CC2D2A CEP290 CEP41 HYLS1
3 embryo MP:0005380 10.36 ARL13B B9D1 C2CD3 CC2D2A CEP41 HYLS1
4 growth/size/body region MP:0005378 10.28 ARL13B B9D1 CC2D2A CEP290 HYLS1 IFT140
5 mortality/aging MP:0010768 10.27 ARL13B B9D1 C2CD3 CC2D2A CEP290 CEP41
6 limbs/digits/tail MP:0005371 10.22 B9D1 C2CD3 CC2D2A HYLS1 IFT140 KATNB1
7 craniofacial MP:0005382 10.19 B9D1 CC2D2A CEP290 IFT140 KIAA0586 KIF7
8 nervous system MP:0003631 10.17 ARL13B B9D1 C2CD3 CC2D2A CEP290 CEP41
9 digestive/alimentary MP:0005381 10.08 B9D1 CC2D2A IFT140 KIF7 MKS1 RPGRIP1L
10 renal/urinary system MP:0005367 9.91 ARL13B B9D1 CC2D2A CEP290 IFT140 MKS1
11 respiratory system MP:0005388 9.76 ARL13B CC2D2A CEP290 IFT140 KIF7 MKS1
12 skeleton MP:0005390 9.7 CEP290 HYLS1 IFT140 KATNB1 KIAA0586 KIF7
13 vision/eye MP:0005391 9.23 B9D1 CC2D2A CEP290 IFT140 KATNB1 KIF7

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:

40
Heart, Brain, Liver, Kidney, T Cells, Eye, Lung

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. 61 56 6
15843405 2005
2
An Asian girl with a 'milder' form of the Hydrolethalus syndrome. 61 56
11152149 2001
3
Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. 61 56
10486328 1999
4
Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis. 61 56
10210131 1999
5
Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome. 61 56
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. 61 56
8322817 1993
7
Hydrolethalus syndrome. 61 56
2074561 1990
8
Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome. 61 56
2407847 1990
9
Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis. 61 56
3321994 1987
10
Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation. 61 56
3296755 1987
11
Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective. 61 56
4003452 1985
12
The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients. 61 56
7028327 1981
13
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 6
21552264 2011
14
Centrioles initiate cilia assembly but are dispensable for maturation and maintenance in C. elegans. 61
28411189 2017
15
The hydrolethalus syndrome protein HYLS-1 regulates formation of the ciliary gate. 61
27534274 2016
16
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. 61
26830932 2016
17
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. 61
27069622 2016
18
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature. 61
26648833 2015
19
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. 61
23142271 2013
20
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. 61
23276573 2012
21
Lethal evolution of a newborn with consistent features of hydrolethalus syndrome--Romanian patient. 61
22029171 2011
22
The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation. 61
19656802 2009
23
Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level. 61
19400947 2009
24
Syndromes, disorders and maternal risk factors associated with neural tube defects (V). 61
18935987 2008
25
Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. 61
18648327 2008
26
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
27
Meckel syndrome: genetics, perinatal findings, and differential diagnosis. 61
17389183 2007
28
Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes. 61
16936370 2006
29
Pseudotrisomy 13: clinical findings and genetic implications. 61
16260883 2005
30
First-trimester diagnosis of hydrolethalus syndrome in a Chinese family. 61
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. 61
15316965 2004
32
[Hydrolethalus syndrome]. 61
11462706 2001
33
Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome? 61
10756349 2000
34
Hydrolethalus: a midline malformation syndrome with optic nerve coloboma and hypoplasia. 61
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? 61
7645593 1995
36
First-trimester diagnosis of hydrolethalus syndrome. 61
7850595 1995
37
Sonographic detection of hydrolethalus syndrome. 61
8006193 1994
38
A fetus with an abnormal chromosome 7 and possible hydrolethalus syndrome. 61
8205324 1994
39
[Hydrolethalus syndrome]. 61
8451226 1993
40
Overlap between Majewski and hydrolethalus syndromes: a report of two cases. 61
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. 61
1776653 1991
42
Twin fetuses with abnormalities that overlap with three midline malformation complexes. 61
1785640 1991
43
Familial holoprosencephaly, heart defects, and polydactyly. 61
1785646 1991
44
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. 61
1865466 1991
45
Sonographic detection of hydrolethalus syndrome. 61
1846379 1991
46
[7-week-old infant with a hydrolethalus syndrome: case report, differential diagnosis and literature review]. 61
2266703 1990
47
[Holoprosencephaly, polydactyly, cardiopathy: new syndrome or a new case of hydrolethalus?]. 61
3216192 1988
48
The hydrolethalus syndrome. 61
3580557 1987
49
Roentgenologic findings of the hydrolethalus syndrome. 61
6364021 1984
50
Hydrolethalus syndrome in consecutive African siblings. 61
6390321 1984

Variations for Hydrolethalus Syndrome 1

ClinVar genetic disease variations for Hydrolethalus Syndrome 1:

6 (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HYLS1 NM_031307.4(PUS3):c.-47+3170T>CSNV Pathogenic 1143 rs104894232 11:125769895-125769895 11:125900000-125900000
2 HYLS1 NM_031307.4(PUS3):c.-47+3334T>CSNV Conflicting interpretations of pathogenicity 303365 rs138284572 11:125769731-125769731 11:125899836-125899836
3 HYLS1 NM_031307.4(PUS3):c.-46-3124T>GSNV Conflicting interpretations of pathogenicity 303362 rs200146258 11:125769349-125769349 11:125899454-125899454
4 HYLS1 NM_031307.4(PUS3):c.-46-3336G>ASNV Uncertain significance 303364 rs374420210 11:125769561-125769561 11:125899666-125899666
5 HYLS1 NM_031307.4(PUS3):c.-47+2534A>GSNV Uncertain significance 303371 rs866111133 11:125770531-125770531 11:125900636-125900636
6 HYLS1 NM_031307.4(PUS3):c.-46-3093G>ASNV Uncertain significance 557012 rs143088549 11:125769318-125769318 11:125899423-125899423
7 HYLS1 NM_031307.4(PUS3):c.-46-3258_-46-3257deldeletion Uncertain significance 557646 rs1555102458 11:125769482-125769483 11:125899587-125899588
8 HYLS1 NM_031307.4(PUS3):c.-47+2907_-47+2909delshort repeat Uncertain significance 550484 rs771348153 11:125770156-125770158 11:125900261-125900263
9 HYLS1 NM_031307.4(PUS3):c.-46-3113_-46-3108deldeletion Uncertain significance 556120 rs1555102367 11:125769333-125769338 11:125899438-125899443
10 HYLS1 NM_031307.4(PUS3):c.-47+3259_-47+3267deldeletion Uncertain significance 554935 rs1319206829 11:125769798-125769806 11:125899903-125899911
11 HYLS1 NM_031307.4(PUS3):c.-46-3183_-46-3181deldeletion Uncertain significance 555336 rs1211996582 11:125769406-125769408 11:125899511-125899513
12 HYLS1 NM_031307.4(PUS3):c.-47+3347deldeletion Uncertain significance 556505 rs1555102572 11:125769718-125769718 11:125899823-125899823
13 HYLS1 NM_031307.4(PUS3):c.-46-3205_-46-3203deldeletion Uncertain significance 555374 rs774246149 11:125769428-125769430 11:125899533-125899535
14 HYLS1 NM_031307.4(PUS3):c.-46-3322_-46-3320dupduplication Uncertain significance 554866 rs1555102499 11:125769544-125769545 11:125899649-125899650
15 HYLS1 NM_031307.4(PUS3):c.-47+2945_-47+2953deldeletion Uncertain significance 554542 rs1555102865 11:125770112-125770120 11:125900217-125900225
16 HYLS1 NM_145014.2(HYLS1):c.-122_-120dupduplication Uncertain significance 303352 rs60408033 11:125761318-125761319 11:125891423-125891424
17 HYLS1 NM_145014.2(HYLS1):c.-120dupduplication Uncertain significance 303350 rs60408033 11:125761318-125761319 11:125891423-125891424
18 HYLS1 NM_145014.2(HYLS1):c.-402C>TSNV Uncertain significance 303348 rs188322208 11:125753641-125753641 11:125883746-125883746
19 HYLS1 NM_145014.2(HYLS1):c.-81+10_-81+11insAinsertion Uncertain significance 303356 rs886047939 11:125761377-125761378 11:125891482-125891483
20 HYLS1 NM_145014.2(HYLS1):c.-81+10_-81+11insAAinsertion Uncertain significance 303357 rs886047939 11:125761377-125761378 11:125891482-125891483
21 HYLS1 NM_145014.2(HYLS1):c.-81+28dupduplication Uncertain significance 303360 rs11382127 11:125761378-125761379 11:125891483-125891484
22 HYLS1 NM_145014.2(HYLS1):c.-81+11dupduplication Uncertain significance 303358 rs372611002 11:125761377-125761378 11:125891482-125891483
23 HYLS1 NM_031307.4(PUS3):c.-47+2826G>ASNV Uncertain significance 303366 rs145788945 11:125770239-125770239 11:125900344-125900344
24 HYLS1 NM_031307.4(PUS3):c.-47+2609G>ASNV Uncertain significance 303369 rs886047940 11:125770456-125770456 11:125900561-125900561
25 HYLS1 NM_031307.4(PUS3):c.-47+2573A>CSNV Uncertain significance 303370 rs117414825 11:125770492-125770492 11:125900597-125900597
26 HYLS1 NM_145014.2(HYLS1):c.-503G>ASNV Uncertain significance 303345 rs886047937 11:125753540-125753540 11:125883645-125883645
27 HYLS1 NM_145014.2(HYLS1):c.-516G>ASNV Uncertain significance 303344 rs886047936 11:125753527-125753527 11:125883632-125883632
28 HYLS1 NM_145014.2(HYLS1):c.-487G>ASNV Uncertain significance 303346 rs536727852 11:125753556-125753556 11:125883661-125883661
29 HYLS1 NM_145014.2(HYLS1):c.-159A>GSNV Uncertain significance 303349 rs143124884 11:125753884-125753884 11:125883989-125883989
30 HYLS1 NM_145014.2(HYLS1):c.-112T>CSNV Uncertain significance 303353 rs886047938 11:125761336-125761336 11:125891441-125891441
31 HYLS1 NM_145014.2(HYLS1):c.-81+10_-81+11dupduplication Uncertain significance 303355 rs1555099863 11:125761376-125761377 11:125891481-125891482
32 HYLS1 NM_145014.2(HYLS1):c.-81+10_-81+11insTAinsertion Uncertain significance 303359 rs886047939 11:125761377-125761378 11:125891482-125891483
33 HYLS1 NM_145014.2(HYLS1):c.-81+10dupduplication Uncertain significance 303354 rs1555099865 11:125761375-125761376 11:125891480-125891481
34 HYLS1 NM_031307.4(PUS3):c.-47+2795C>TSNV Likely benign 303367 rs79600654 11:125770270-125770270 11:125900375-125900375
35 HYLS1 NM_145014.2(HYLS1):c.-454C>TSNV Benign 303347 rs583355 11:125753589-125753589 11:125883694-125883694
36 HYLS1 NM_031307.4(PUS3):c.-46-3129A>GSNV Benign 303363 rs667782 11:125769354-125769354 11:125899459-125899459
37 HYLS1 NM_145014.2(HYLS1):c.-121_-120dupduplication Benign 303351 rs60408033 11:125761318-125761319 11:125891423-125891424
38 HYLS1 NM_145014.2(HYLS1):c.-81+27_-81+28dupduplication Benign 303361 rs11382127 11:125761378-125761379 11:125891483-125891484
39 HYLS1 NM_031307.4(PUS3):c.-47+2640T>GSNV Benign 303368 rs2236681 11:125770425-125770425 11:125900530-125900530

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

73
# 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 Chromosome 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

GO Terms for Hydrolethalus Syndrome 1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.45 WDR35 WDR34 TTC21B TMEM67 RPGRIP1L PUS3
2 microtubule organizing center GO:0005815 10.13 WDR35 RPGRIP1L MKS1 KIAA0586 KATNB1 IFT140
3 centrosome GO:0005813 10.07 WDR60 WDR35 TMEM67 RPGRIP1L MKS1 KIAA0586
4 ciliary basal body GO:0036064 10.06 WDR35 WDR34 RPGRIP1L MKS1 KIF7 KIAA0586
5 centriole GO:0005814 10 WDR34 MKS1 KIAA0586 HYLS1 CEP41 CEP290
6 cilium GO:0005929 10 WDR60 WDR35 WDR34 TTC21B TMEM67 RPGRIP1L
7 axoneme GO:0005930 9.91 WDR35 WDR34 RPGRIP1L IFT140 ARL13B
8 ciliary tip GO:0097542 9.91 WDR60 WDR35 WDR34 TTC21B KIF7 IFT140
9 cytoskeleton GO:0005856 9.86 WDR35 WDR34 TTC21B TMEM67 RPGRIP1L MKS1
10 ciliary transition zone GO:0035869 9.85 TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A B9D1
11 MKS complex GO:0036038 9.8 TMEM67 MKS1 CEP290 CC2D2A B9D1
12 photoreceptor connecting cilium GO:0032391 9.72 RPGRIP1L IFT140 CEP290
13 non-motile cilium GO:0097730 9.71 IFT140 HYLS1 ARL13B
14 intraciliary transport particle A GO:0030991 9.7 WDR35 TTC21B IFT140
15 cytoplasmic dynein complex GO:0005868 9.56 WDR60 WDR34
16 cell projection GO:0042995 9.55 WDR60 WDR35 WDR34 TTC21B TMEM67 RPGRIP1L

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 9.85 TTC21B MKS1 KIAA0586 CC2D2A B9D1 ARL13B
2 determination of left/right symmetry GO:0007368 9.83 RPGRIP1L MKS1 IFT140 CC2D2A ARL13B
3 embryonic digit morphogenesis GO:0042733 9.8 MKS1 IFT140 C2CD3 B9D1
4 intraciliary transport involved in cilium assembly GO:0035735 9.8 WDR60 WDR35 WDR34 TTC21B IFT140
5 ciliary basal body-plasma membrane docking GO:0097711 9.76 TMEM67 RPGRIP1L MKS1 CEP41 CEP290 CC2D2A
6 microtubule-based movement GO:0007018 9.74 WDR60 WDR34 KIF7
7 non-motile cilium assembly GO:1905515 9.73 RPGRIP1L MKS1 IFT140 CC2D2A C2CD3 ARL13B
8 cell projection organization GO:0030030 9.73 WDR60 WDR35 TMEM67 MKS1 KIAA0586 IFT140
9 camera-type eye development GO:0043010 9.72 RPGRIP1L CC2D2A B9D1
10 regulation of smoothened signaling pathway GO:0008589 9.72 TTC21B RPGRIP1L MKS1 IFT140 C2CD3
11 protein localization to cilium GO:0061512 9.71 WDR35 TTC21B IFT140
12 intraciliary transport GO:0042073 9.7 WDR35 WDR34 IFT140
13 embryonic brain development GO:1990403 9.69 MKS1 IFT140 CC2D2A
14 intraciliary retrograde transport GO:0035721 9.65 WDR35 TTC21B IFT140
15 neural tube patterning GO:0021532 9.63 RPGRIP1L IFT140 ARL13B
16 limb morphogenesis GO:0035108 9.59 RPGRIP1L IFT140
17 motile cilium assembly GO:0044458 9.58 MKS1 CC2D2A
18 head development GO:0060322 9.58 RPGRIP1L MKS1
19 regulation of establishment of protein localization GO:0070201 9.56 KIAA0586 CEP290
20 cilium assembly GO:0060271 9.5 WDR60 WDR35 WDR34 TMEM67 RPGRIP1L MKS1

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

# Name GO ID Score Top Affiliating Genes
1 dynein heavy chain binding GO:0045504 8.96 WDR60 WDR34
2 dynein light chain binding GO:0045503 8.62 WDR60 WDR34

Sources for Hydrolethalus Syndrome 1

3 CDC
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11 DGIdb
17 EFO
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