MCID: HYD033
MIFTS: 45

Hydrolethalus Syndrome 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal 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 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 hydrolethalus syndrome 2 and hepatic lipase deficiency. An important gene associated with Hydrolethalus Syndrome 1 is HYLS1 (HYLS1, Centriolar And Ciliogenesis Associated). Affiliated tissues include heart, uterus and adrenal gland, 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 77)
# Related Disease Score Top Affiliating Genes
1 hydrolethalus syndrome 2 12.4
2 hepatic lipase deficiency 12.0
3 lymphoma, hodgkin, classic 11.9
4 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.0
5 lipase deficiency, combined 11.0
6 mental retardation, autosomal recessive 55 10.1 HYLS1 PUS3
7 lymphoma 10.1
8 polydactyly 10.0
9 choriocarcinoma 9.9
10 glomerulonephritis 9.9
11 hepatitis 9.9
12 gestational choriocarcinoma 9.9
13 pallister-hall syndrome 9.8
14 lung agenesis 9.8
15 smith-lemli-opitz syndrome 9.8
16 opitz gbbb syndrome, type i 9.8
17 holoprosencephaly 9.8
18 orofaciodigital syndrome 9.8
19 dandy-walker complex 9.8
20 arteries, anomalies of 9.8
21 multiple sclerosis 9.8
22 pernicious anemia 9.8
23 aging 9.8
24 coronary artery anomaly 9.8
25 leukemia 9.8
26 farmer's lung 9.8
27 iga glomerulonephritis 9.8
28 proliferative glomerulonephritis 9.8
29 rubella 9.8
30 congenital rubella 9.8
31 polydactyly cleft lip palate psychomotor retardation 9.7 KIF7 TMEM216
32 spondyloarthropathy 1 9.6
33 major affective disorder 1 9.6
34 buerger disease 9.6
35 complement component 2 deficiency 9.6
36 myeloma, multiple 9.6
37 dermatitis herpetiformis, familial 9.6
38 body mass index quantitative trait locus 1 9.6
39 acute promyelocytic leukemia 9.6
40 membranous nephropathy 9.6
41 anaplastic large cell lymphoma 9.6
42 diabetes mellitus 9.6
43 dilated cardiomyopathy 9.6
44 hereditary ataxia 9.6
45 liver disease 9.6
46 paralytic poliomyelitis 9.6
47 lennox-gastaut syndrome 9.6
48 nonalcoholic fatty liver disease 9.6
49 asbestosis 9.6
50 sarcoma 9.6

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
AbdomenSpleen:
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 hypospadias 32 HP:0000047
33 ventricular septal defect 32 HP:0001629
34 talipes equinovarus 32 very rare (1%) HP:0001762
35 tracheal stenosis 32 very rare (1%) HP:0002777
36 abnormality of the vagina 32 HP:0000142
37 preaxial hand polydactyly 32 very rare (1%) HP:0001177
38 hydronephrosis 32 HP:0000126
39 abnormality of the respiratory system 59 Frequent (79-30%)
40 dandy-walker malformation 32 HP:0001305
41 accessory spleen 32 HP:0001747
42 omphalocele 32 HP:0001539
43 median cleft lip 32 HP:0000161
44 abnormal lung lobation 32 very rare (1%) HP:0002101
45 heterotopia 32 HP:0002282
46 laryngeal hypoplasia 32 very rare (1%) HP:0008749
47 bifid nose 32 HP:0011803
48 abnormal cortical gyration 32 HP:0002536
49 bifid uterus 32 very rare (1%) HP:0000136
50 agenesis of the diaphragm 32 HP:0008986

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

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, 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:

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 58)
# 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 rs397810202 GRCh38 Chromosome 11, 125891432: 125891433
4 HYLS1 NM_145014.2(HYLS1): c.-121_-120dupTT duplication Benign rs397810202 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 rs397810202 GRCh38 Chromosome 11, 125891431: 125891433
20 HYLS1 NM_145014.2(HYLS1): c.-122_-120dupTTT duplication Uncertain significance rs397810202 GRCh37 Chromosome 11, 125761326: 125761328
21 HYLS1 NM_145014.2(HYLS1): c.-120dupT duplication Uncertain significance rs397810202 GRCh37 Chromosome 11, 125761328: 125761328
22 HYLS1 NM_145014.2(HYLS1): c.-120dupT duplication Uncertain significance rs397810202 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 rs372611002 GRCh37 Chromosome 11, 125761377: 125761378
36 HYLS1 NM_145014.2(HYLS1): c.-81+10_-81+11dupTG duplication Uncertain significance rs372611002 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 rs886047939 GRCh37 Chromosome 11, 125761377: 125761377
40 HYLS1 NM_145014.2(HYLS1): c.-81+10dupT duplication Uncertain significance rs886047939 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

GO Terms for Hydrolethalus Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.62 HYLS1 KIF7 MKS1 TMEM216
2 cell projection GO:0042995 9.56 HYLS1 KIF7 MKS1 TMEM216
3 centriole GO:0005814 9.4 HYLS1 MKS1
4 ciliary basal body GO:0036064 9.37 KIF7 MKS1
5 ciliary transition zone GO:0035869 9.16 MKS1 TMEM216
6 MKS complex GO:0036038 8.96 MKS1 TMEM216
7 cilium GO:0005929 8.92 HYLS1 KIF7 MKS1 TMEM216

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

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.26 MKS1 TMEM216
2 non-motile cilium assembly GO:1905515 9.16 MKS1 TMEM216
3 cilium assembly GO:0060271 9.13 HYLS1 MKS1 TMEM216
4 cell projection organization GO:0030030 8.8 HYLS1 MKS1 TMEM216

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
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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