HLS1
MCID: HYD033
MIFTS: 44

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 12 73 29 6 15 71
Hydrolethalus Syndrome 57 12 74 20 36 29 13 6 44 15 71
Hls1 57 12 73
Hydrolethalus Syndrome, Type 1 39
Salonen-Herva-Norio Syndrome 12
Hydrolethalus 58
Hls 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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:
Onset and clinical course 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 hydrolethalus syndrome 2 and acrocallosal syndrome. An important gene associated with Hydrolethalus Syndrome 1 is HYLS1 (HYLS1 Centriolar And Ciliogenesis Associated). Affiliated tissues include eye, spleen and uterus, and related phenotypes are agenesis of corpus callosum and hydrocephalus

Disease Ontology : 12 A syndrome 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 53)
# Related Disease Score Top Affiliating Genes
1 hydrolethalus syndrome 2 32.0 NBPF6 NBPF4 NBPF26 NBPF19 NBPF15 NBPF12
2 acrocallosal syndrome 31.5 KIF7 HYLS1
3 polydactyly 10.4
4 hydrocephalus 10.4
5 occipital encephalocele 10.4
6 capgras syndrome 10.2 PRH2 PRH1
7 endocrine-cerebroosteodysplasia 10.2 KIF7 HYLS1
8 polyhydramnios 10.2
9 granulomatous disease, chronic, autosomal recessive, 1 10.2 PRH2 PRH1
10 hydrocephalus, congenital, 1 10.1
11 cleft lip 10.1
12 nephronophthisis 3 10.1 PRH2 PRH1
13 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
14 ciliopathy 10.1
15 short-rib thoracic dysplasia 10 with or without polydactyly 10.0
16 microphthalmia 10.0
17 short rib-polydactyly syndrome 10.0
18 alzheimer disease 9.9
19 glomerulonephritis 9.9
20 developmental coordination disorder 9.9
21 47,xyy 9.9
22 developmental dyspraxia 9.9
23 cleft palate, isolated 9.9
24 pallister-hall syndrome 9.9
25 chromosome 2q35 duplication syndrome 9.9
26 joubert syndrome 1 9.9
27 pseudotrisomy 13 syndrome 9.9
28 pulmonary hypoplasia, primary 9.9
29 smith-lemli-opitz syndrome 9.9
30 orofaciodigital syndrome vi 9.9
31 opitz gbbb syndrome, type i 9.9
32 autosomal recessive disease 9.9
33 patau syndrome 9.9
34 orofaciodigital syndrome 9.9
35 holoprosencephaly 9.9
36 chromosomal triplication 9.9
37 encephalocele 9.9
38 cleft lip/palate 9.9
39 coloboma of macula 9.8
40 optic nerve hypoplasia, bilateral 9.8
41 odontochondrodysplasia 9.8
42 anencephaly 9.8
43 bardet-biedl syndrome 1 9.8
44 fryns microphthalmia syndrome 9.8
45 midline malformations, multiple, with limb abnormalities and hypopituitarism 9.8
46 short-rib thoracic dysplasia 14 with polydactyly 9.8
47 omphalocele 9.8
48 orbital cyst 9.8
49 heart septal defect 9.8
50 hypopituitarism 9.8

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 57)
# 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 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
4 micrognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000347
5 polyhydramnios 58 31 very rare (1%) Very frequent (99-80%) HP:0001561
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 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
10 laryngomalacia 58 31 frequent (33%) Frequent (79-30%) HP:0001601
11 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
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 submucous cleft hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0000176
15 abnormality of cardiovascular system morphology 58 31 frequent (33%) Frequent (79-30%) HP:0030680
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 anophthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000528
21 microphthalmia 58 31 very rare (1%) Occasional (29-5%) HP:0000568
22 arrhinencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002139
23 micromelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002983
24 abnormal fallopian tube morphology 31 occasional (7.5%) 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 talipes equinovarus 31 very rare (1%) HP:0001762
28 preaxial hand polydactyly 31 very rare (1%) HP:0001177
29 abnormal lung lobation 31 very rare (1%) HP:0002101
30 tracheal stenosis 31 very rare (1%) HP:0002777
31 abnormality of the pinna 31 very rare (1%) HP:0000377
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 broad neck 31 HP:0000475
39 hydronephrosis 31 HP:0000126
40 dandy-walker malformation 31 HP:0001305
41 hypospadias 31 HP:0000047
42 ventricular septal defect 31 HP:0001629
43 abnormality of the respiratory system 58 Frequent (79-30%)
44 omphalocele 31 HP:0001539
45 median cleft lip 31 HP:0000161
46 accessory spleen 31 HP:0001747
47 abnormal cortical gyration 31 HP:0002536
48 gray matter heterotopia 31 HP:0002282
49 bifid nose 31 HP:0011803
50 abnormality of the fallopian tube 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Mouth:
cleft palate
lateral or midline cleft lip
lower lip cleft

Head And Neck Face:
micrognathia

Head And Neck Neck:
broad neck

Genitourinary Kidneys:
hydronephrosis

Cardiovascular Heart:
ventricular septal defect
atrioventricular canal

Abdomen External Features:
omphalocele

Respiratory Airways:
tracheal stenosis
bronchial stenosis

Skeletal Feet:
preaxial polydactyly
club feet
hallux duplication

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

Growth Other:
intrauterine growth retardation

Head And Neck Ears:
low-set ears
malformed ears

Head And Neck Eyes:
microphthalmia

Genitourinary External Genitalia Male:
hypospadias

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 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 (Updated 05-Mar-2021)

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
2 Hydrolethalus Syndrome 29

Anatomical Context for Hydrolethalus Syndrome 1

MalaCards organs/tissues related to Hydrolethalus Syndrome 1:

40
Eye, Spleen, Uterus, Pituitary, Lung, Adrenal Gland, Heart

Publications for Hydrolethalus Syndrome 1

Articles related to Hydrolethalus Syndrome 1:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. 61 57 6
15843405 2005
2
An Asian girl with a 'milder' form of the Hydrolethalus syndrome. 61 57
11152149 2001
3
Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. 61 57
10486328 1999
4
Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis. 57 61
10210131 1999
5
Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome. 61 57
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. 57 61
8322817 1993
7
Hydrolethalus syndrome. 57 61
2074561 1990
8
Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome. 61 57
2407847 1990
9
Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis. 61 57
3321994 1987
10
Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation. 57 61
3296755 1987
11
Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective. 57 61
4003452 1985
12
The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients. 61 57
7028327 1981
13
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 6
21552264 2011
14
Functional Analysis of Hydrolethalus Syndrome Protein HYLS1 in Ciliogenesis and Spermatogenesis in Drosophila. 61
32509774 2020
15
Centrioles initiate cilia assembly but are dispensable for maturation and maintenance in C. elegans. 61
28411189 2017
16
The hydrolethalus syndrome protein HYLS-1 regulates formation of the ciliary gate. 61
27534274 2016
17
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. 61
26830932 2016
18
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. 61
27069622 2016
19
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature. 61
26648833 2015
20
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. 61
23142271 2013
21
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. 61
23276573 2012
22
Lethal evolution of a newborn with consistent features of hydrolethalus syndrome--Romanian patient. 61
22029171 2011
23
The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation. 61
19656802 2009
24
Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level. 61
19400947 2009
25
Syndromes, disorders and maternal risk factors associated with neural tube defects (V). 61
18935987 2008
26
Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. 61
18648327 2008
27
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
28
Meckel syndrome: genetics, perinatal findings, and differential diagnosis. 61
17389183 2007
29
Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes. 61
16936370 2006
30
Pseudotrisomy 13: clinical findings and genetic implications. 61
16260883 2005
31
First-trimester diagnosis of hydrolethalus syndrome in a Chinese family. 61
15305343 2004
32
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
33
[Hydrolethalus syndrome]. 61
11462706 2001
34
Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome? 61
10756349 2000
35
Hydrolethalus: a midline malformation syndrome with optic nerve coloboma and hypoplasia. 61
8740232 1996
36
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
37
First-trimester diagnosis of hydrolethalus syndrome. 61
7850595 1995
38
Sonographic detection of hydrolethalus syndrome. 61
8006193 1994
39
A fetus with an abnormal chromosome 7 and possible hydrolethalus syndrome. 61
8205324 1994
40
[Hydrolethalus syndrome]. 61
8451226 1993
41
Overlap between Majewski and hydrolethalus syndromes: a report of two cases. 61
1415345 1992
42
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
43
Twin fetuses with abnormalities that overlap with three midline malformation complexes. 61
1785640 1991
44
Familial holoprosencephaly, heart defects, and polydactyly. 61
1785646 1991
45
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. 61
1865466 1991
46
Sonographic detection of hydrolethalus syndrome. 61
1846379 1991
47
[7-week-old infant with a hydrolethalus syndrome: case report, differential diagnosis and literature review]. 61
2266703 1990
48
[Holoprosencephaly, polydactyly, cardiopathy: new syndrome or a new case of hydrolethalus?]. 61
3216192 1988
49
The hydrolethalus syndrome. 61
3580557 1987
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 top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HYLS1 NM_031307.4(PUS3):c.-47+3170T>C SNV Pathogenic 1143 rs104894232 11:125769895-125769895 11:125900000-125900000
2 HYLS1 NM_031307.4(PUS3):c.-47+3170T>C SNV Pathogenic 1143 rs104894232 11:125769895-125769895 11:125900000-125900000
3 KIF7 NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs) Deletion Pathogenic 30895 rs752248403 15:90174940-90174941 15:89631709-89631710
4 HYLS1 NM_145014.2(HYLS1):c.-81+10_-81+11insAA Insertion Uncertain significance 303357 rs886047939 11:125761377-125761378 11:125891482-125891483
5 HYLS1 NM_145014.2(HYLS1):c.-81+28dup Duplication Uncertain significance 303360 rs11382127 11:125761378-125761379 11:125891483-125891484
6 HYLS1 NM_145014.2(HYLS1):c.-122_-120dup Duplication Uncertain significance 303352 rs60408033 11:125761318-125761319 11:125891423-125891424
7 HYLS1 NM_145014.2(HYLS1):c.-81+10_-81+11dup Duplication Uncertain significance 303355 rs1555099863 11:125761376-125761377 11:125891481-125891482
8 HYLS1 NM_145014.2(HYLS1):c.-81+11dup Duplication Uncertain significance 303358 rs372611002 11:125761377-125761378 11:125891482-125891483
9 HYLS1 NM_145014.2(HYLS1):c.-120dup Duplication Uncertain significance 303350 rs60408033 11:125761318-125761319 11:125891423-125891424
10 HYLS1 NM_145014.2(HYLS1):c.-81+10_-81+11insA Insertion Uncertain significance 303356 rs886047939 11:125761377-125761378 11:125891482-125891483
11 HYLS1 NM_145014.2(HYLS1):c.-81+10_-81+11insTA Insertion Uncertain significance 303359 rs886047939 11:125761377-125761378 11:125891482-125891483
12 HYLS1 NM_145014.2(HYLS1):c.-503G>A SNV Uncertain significance 303345 rs886047937 11:125753540-125753540 11:125883645-125883645
13 KIF7 NM_198525.3(KIF7):c.3326C>T (p.Thr1109Met) SNV Uncertain significance 930849 15:90172797-90172797 15:89629566-89629566
14 KIF7 NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln) SNV Uncertain significance 930850 15:90174859-90174859 15:89631628-89631628
15 HYLS1 NM_031307.4(PUS3):c.-46-3053T>G SNV Uncertain significance 792732 rs759153895 11:125769278-125769278 11:125899383-125899383
16 KIF7 NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) SNV Uncertain significance 522734 rs367734857 15:90177084-90177084 15:89633853-89633853
17 HYLS1 NM_031307.4(PUS3):c.-47+2907_-47+2909del Microsatellite Uncertain significance 550484 rs771348153 11:125770156-125770158 11:125900261-125900263
18 HYLS1 NM_031307.4(PUS3):c.-47+2945_-47+2953del Deletion Uncertain significance 554542 rs1555102865 11:125770112-125770120 11:125900217-125900225
19 HYLS1 NM_031307.4(PUS3):c.-46-3322_-46-3320dup Duplication Uncertain significance 554866 rs1555102499 11:125769544-125769545 11:125899649-125899650
20 HYLS1 NM_031307.4(PUS3):c.-47+3259_-47+3267del Deletion Uncertain significance 554935 rs1319206829 11:125769798-125769806 11:125899903-125899911
21 HYLS1 NM_031307.4(PUS3):c.-46-3183_-46-3181del Deletion Uncertain significance 555336 rs1211996582 11:125769406-125769408 11:125899511-125899513
22 HYLS1 NM_031307.4(PUS3):c.-46-3205_-46-3203del Deletion Uncertain significance 555374 rs774246149 11:125769428-125769430 11:125899533-125899535
23 HYLS1 NM_031307.4(PUS3):c.-46-3113_-46-3108del Deletion Uncertain significance 556120 rs1555102367 11:125769333-125769338 11:125899438-125899443
24 HYLS1 NM_031307.4(PUS3):c.-47+3347del Deletion Uncertain significance 556505 rs1555102572 11:125769718-125769718 11:125899823-125899823
25 HYLS1 NM_031307.4(PUS3):c.-46-3093G>A SNV Uncertain significance 557012 rs143088549 11:125769318-125769318 11:125899423-125899423
26 HYLS1 NM_031307.4(PUS3):c.-46-3258_-46-3257del Deletion Uncertain significance 557646 rs1555102458 11:125769482-125769483 11:125899587-125899588
27 KIF7 NM_198525.3(KIF7):c.2482G>A (p.Val828Met) SNV Uncertain significance 384330 rs143915145 15:90177027-90177027 15:89633796-89633796
28 KIF7 NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) SNV Uncertain significance 522734 rs367734857 15:90177084-90177084 15:89633853-89633853
29 KIF7 NM_198525.3(KIF7):c.2420C>T (p.Thr807Met) SNV Uncertain significance 283078 rs757175418 15:90177089-90177089 15:89633858-89633858
30 KIF7 NM_198525.3(KIF7):c.2354A>T (p.Glu785Val) SNV Uncertain significance 452288 rs759424882 15:90185474-90185474 15:89642243-89642243
31 KIF7 NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln) SNV Uncertain significance 286561 rs149078926 15:90188330-90188330 15:89645099-89645099
32 KIF7 NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) SNV Uncertain significance 283923 rs553968087 15:90191752-90191752 15:89648521-89648521
33 HYLS1 NM_031307.4(PUS3):c.-47+3140C>T SNV Uncertain significance 718029 rs375332939 11:125769925-125769925 11:125900030-125900030
34 HYLS1 NM_001134793.2(HYLS1):c.103G>C (p.Gly35Arg) SNV Uncertain significance 992011 11:125769366-125769366 11:125899471-125899471
35 HYLS1 NM_001134793.2(HYLS1):c.132A>G (p.Gln44=) SNV Uncertain significance 992012 11:125769395-125769395 11:125899500-125899500
36 HYLS1 NM_001134793.2(HYLS1):c.183A>G (p.Arg61=) SNV Uncertain significance 992013 11:125769446-125769446 11:125899551-125899551
37 HYLS1 NM_001134793.2(HYLS1):c.200A>G (p.Gln67Arg) SNV Uncertain significance 992014 11:125769463-125769463 11:125899568-125899568
38 HYLS1 NM_001134793.2(HYLS1):c.234T>A (p.Pro78=) SNV Uncertain significance 992015 11:125769497-125769497 11:125899602-125899602
39 HYLS1 NM_001134793.2(HYLS1):c.278TGA[1] (p.Met94del) Microsatellite Uncertain significance 992016 11:125769541-125769543 11:125899646-125899648
40 HYLS1 NM_031307.4(PUS3):c.-46-3336G>A SNV Uncertain significance 303364 rs374420210 11:125769561-125769561 11:125899666-125899666
41 HYLS1 NM_001134793.2(HYLS1):c.547G>A (p.Glu183Lys) SNV Uncertain significance 992017 11:125769810-125769810 11:125899915-125899915
42 HYLS1 NM_001134793.2(HYLS1):c.589C>T (p.Leu197Phe) SNV Uncertain significance 992018 11:125769852-125769852 11:125899957-125899957
43 HYLS1 NM_001134793.2(HYLS1):c.725G>A (p.Arg242Gln) SNV Uncertain significance 992019 11:125769988-125769988 11:125900093-125900093
44 HYLS1 NM_001134793.2(HYLS1):c.846C>T (p.Asp282=) SNV Uncertain significance 992020 11:125770109-125770109 11:125900214-125900214
45 HYLS1 NM_031307.4(PUS3):c.-47+2907_-47+2909del Microsatellite Uncertain significance 550484 rs771348153 11:125770156-125770158 11:125900261-125900263
46 HYLS1 NM_001134793.2(HYLS1):c.895T>C (p.Ser299Pro) SNV Uncertain significance 992021 11:125770158-125770158 11:125900263-125900263
47 HYLS1 NM_145014.2(HYLS1):c.-81+10dup Duplication Uncertain significance 303354 rs1555099865 11:125761375-125761376 11:125891480-125891481
48 KIF7 NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) SNV Benign 129415 rs142032413 15:90172778-90172778 15:89629547-89629547
49 HYLS1 NM_031307.4(PUS3):c.-46-3129A>G SNV Benign 303363 rs667782 11:125769354-125769354 11:125899459-125899459
50 HYLS1 NM_031307.4(PUS3):c.-46-3124T>G SNV Benign 303362 rs200146258 11:125769349-125769349 11:125899454-125899454

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

Sources for Hydrolethalus Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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