MCID: HYD011
MIFTS: 53

Hydrolethalus Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Hydrolethalus Syndrome

MalaCards integrated aliases for Hydrolethalus Syndrome:

Name: Hydrolethalus Syndrome 54 12 50 13 14 69
Hydrolethalus Syndrome 1 24 71 29 69
Hls1 24 71
Salonen-Herva-Norio Syndrome 12
Hydrolethalus 56
Hls 50

Characteristics:

Orphanet epidemiological data:

56
hydrolethalus
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

54
Inheritance:
autosomal recessive

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)


HPO:

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


Classifications:



Summaries for Hydrolethalus Syndrome

UniProtKB/Swiss-Prot : 71 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, also known as hydrolethalus syndrome 1, is related to hydrolethalus syndrome 2 and hodgkin lymphoma, and has symptoms including low-set ears, micrognathia and intrauterine growth retardation. An important gene associated with Hydrolethalus Syndrome 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, uterus and adrenal gland, and related phenotypes are cellular and growth/size/body region

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 : 72 Hydrolethalus syndrome (less commonly referred to as Salonen-Herva-Norio syndrome) is a rare genetic... more...

Description from OMIM: 236680

Related Diseases for Hydrolethalus Syndrome

Diseases in the Hydrolethalus Syndrome family:

Hydrolethalus Syndrome 2

Diseases related to Hydrolethalus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
id Related Disease Score Top Affiliating Genes
1 hydrolethalus syndrome 2 12.2
2 hodgkin lymphoma 11.8
3 hepatic lipase deficiency 11.3
4 lipase deficiency, combined 10.8
5 hmg-coa lyase deficiency 10.8
6 jumping frenchmen of maine 10.6 AHI1 MKS1
7 hand, foot and mouth disease 10.5 ADAMTS18 SATB2
8 intracranial berry aneurysm 10.5 ALX3 SATB2
9 juvenile myelomonocytic leukemia, somatic ptpn11-related 10.5 AHI1 TMEM67
10 bone marrow failure syndrome 3 10.3 CD96 KIF7 OFD1 TMEM216
11 epileptic encephalopathy, early infantile, 12 10.2 BBS2 BBS4
12 senior-loken syndrome-1 10.2 AHI1 MKS1 TMEM216 TMEM67
13 polydactyly, preaxial, type iv 10.2 HYLS1 KIF7 SHH
14 retinitis pigmentosa 51 10.2 BBS2 BBS4
15 cerebral atherosclerosis 10.2 AHI1 MKS1 TMEM216 TMEM67
16 polycystic kidney disease 4, with or without hepatic disease 10.1 ICK SHH
17 kagami-ogata syndrome 10.1 ALX3 SATB2
18 encephalopathy due to prosaposin deficiency 10.1 ALX3 MKS1 TMEM216 TMEM67
19 lipodystrophy, congenital generalized, type 2 10.1 BBS2 BBS4 KIF7
20 macrocephaly, dysmorphic facies, and psychomotor retardation 10.1 BBS2 BBS4 OFD1
21 celiac disease 6 10.1 BBS2 BBS4
22 bardet-biedl syndrome 15 10.1 BBS2 BBS4 TMEM67
23 dimethylglycine dehydrogenase deficiency 10.1 ALX3 SHH
24 corneal dystrophy, congenital stromal 10.1 BBS2 TMEM67
25 deafness, autosomal recessive 84a 10.1 BBS2 BBS4
26 spastic paraplegia 37, autosomal dominant 10.0 AFP SATB2
27 book syndrome 10.0 ALX3 SATB2 SHH
28 ataxia-telangiectasia-like disorder 2 10.0 BBS2 BBS4
29 lymphoma 9.9
30 visual cortex disease 9.9 AFP ICK
31 hypotrichosis of eyelid 9.9 AFP OFD1 TMEM67
32 bardet-biedl syndrome 13 9.9 AHI1 BBS4 MKS1 TMEM216 TMEM67
33 congenital heart defects, multiple types, 3 9.9 BBS2 BBS4 MKS1 TMEM67
34 polydactyly 9.9
35 choriocarcinoma 9.8
36 limb defects, distal transverse, with mental retardation and spasticity 9.8 CD96 LRP2 SHH
37 lethal congenital contractural syndrome 3 9.8 CD96 LRP2
38 acrodermatitis chronica atrophicans 9.8 AHI1 KIF7 MKS1 OFD1 TMEM216 TMEM67
39 hepatitis 9.8
40 gestational choriocarcinoma 9.8
41 glomerulonephritis 9.8
42 impetigo 9.8 AHI1 BBS2 BBS4 TMEM67
43 holoprosencephaly 9.7
44 pallister-hall syndrome 9.7
45 smith-lemli-opitz syndrome 9.7
46 macular dystrophy, patterned, 3 9.7 BBS2 BBS4 SHH
47 leukemia 9.7
48 congenital rubella 9.7
49 coronary artery disease 9.7
50 proliferative glomerulonephritis 9.7

Graphical network of the top 20 diseases related to Hydrolethalus Syndrome:



Diseases related to Hydrolethalus Syndrome

Symptoms & Phenotypes for Hydrolethalus Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Growth- Other:
intrauterine growth retardation

Genitourinary- External Genitalia Male:
hypospadias

Skeletal- Feet:
club feet
preaxial polydactyly
hallux duplication

Cardiovascular- Heart:
ventricular septal defect
atrioventricular canal

Neurologic- Central Nervous System:
anencephaly
absent septum pellucidum
absent corpus callosum
arhinencephaly
absent pituitary
more
Skeletal- Hands:
postaxial polydactyly

Respiratory- Airways:
tracheal stenosis
bronchial stenosis

Head And Neck- Nose:
bifid nose

Chest- Diaphragm:
agenesis of diaphragm

Genitourinary- Internal Genitalia Female:
duplicated uterus
vaginal malformation

Skeletal- Limbs:
short arms
proximal tibial hypopolasia

Head And Neck- Face:
micrognathia

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

Head And Neck- Eyes:
microphthalmia

Genitourinary- Kidneys:
hydronephrosis

Abdomen- External Features:
omphalocele

Respiratory- Larynx:
hypoplastic larynx

Head And Neck- Neck:
broad neck

Abdomen- Spleen:
accessory spleen

Respiratory- Lung:
defective lobation
pulmonary agenesis

Abdomen- Gastroin testinal:
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:

32 (show all 37)
id Description HPO Frequency HPO Source Accession
1 low-set ears 32 very rare (1%) HP:0000369
2 micrognathia 32 very rare (1%) HP:0000347
3 intrauterine growth retardation 32 HP:0001511
4 cleft palate 32 very rare (1%) HP:0000175
5 hypospadias 32 very rare (1%) HP:0000047
6 polyhydramnios 32 very rare (1%) HP:0001561
7 microphthalmia 32 very rare (1%) HP:0000568
8 hydronephrosis 32 very rare (1%) HP:0000126
9 talipes equinovarus 32 very rare (1%) HP:0001762
10 ventricular septal defect 32 HP:0001629
11 omphalocele 32 HP:0001539
12 median cleft lip 32 HP:0000161
13 agenesis of corpus callosum 32 HP:0001274
14 bifid uterus 32 very rare (1%) HP:0000136
15 dandy-walker malformation 32 HP:0001305
16 laryngeal hypoplasia 32 very rare (1%) HP:0008749
17 broad neck 32 HP:0000475
18 absent septum pellucidum 32 HP:0001331
19 tracheal stenosis 32 very rare (1%) HP:0002777
20 accessory spleen 32 HP:0001747
21 bifid nose 32 HP:0011803
22 abnormal lung lobation 32 very rare (1%) HP:0002101
23 abnormal cortical gyration 32 HP:0002536
24 cleft in skull base 32 very rare (1%) HP:0009752
25 heterotopia 32 HP:0002282
26 arrhinencephaly 32 HP:0002139
27 upper limb undergrowth 32 very rare (1%) HP:0009824
28 abnormality of the pinna 32 very rare (1%) HP:0000377
29 abnormality of the vagina 32 HP:0000142
30 preaxial hand polydactyly 32 HP:0001177
31 postaxial hand polydactyly 32 very rare (1%) HP:0001162
32 duplication of phalanx of hallux 32 very rare (1%) HP:0010066
33 complete atrioventricular canal defect 32 very rare (1%) HP:0001674
34 proximal tibial hypoplasia 32 HP:0006379
35 severe hydrocephalus 32 very rare (1%) HP:0006882
36 adrenal gland dysgenesis 32 HP:0008216
37 agenesis of the diaphragm 32 HP:0008986

MGI Mouse Phenotypes related to Hydrolethalus Syndrome:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 BBS4 DDX25 EVC2 ICK KIF7 LRP2
2 growth/size/body region MP:0005378 10.27 AHI1 ALX3 BBS2 BBS4 EVC2 ICK
3 craniofacial MP:0005382 10.26 MKS1 OFD1 SATB2 SHH TMEM67 ALX3
4 digestive/alimentary MP:0005381 10.25 ALX3 BBS2 BBS4 ICK KIF7 LRP2
5 mortality/aging MP:0010768 10.22 ICK KIF7 LRP2 MKS1 OFD1 SATB2
6 limbs/digits/tail MP:0005371 10.17 ALX3 BBS2 EVC2 ICK KIF7 LRP2
7 embryo MP:0005380 10.15 MKS1 OFD1 SATB2 SHH TMEM67 ALX3
8 endocrine/exocrine gland MP:0005379 10.13 AFP ALX3 BBS2 BBS4 DDX25 LRP2
9 nervous system MP:0003631 10.11 AHI1 ALX3 BBS2 BBS4 ICK KIF7
10 renal/urinary system MP:0005367 9.97 AHI1 BBS2 BBS4 ICK LRP2 MKS1
11 reproductive system MP:0005389 9.96 LRP2 MKS1 SHH ADAMTS18 AFP ALX3
12 respiratory system MP:0005388 9.76 ALX3 BBS4 KIF7 LRP2 MKS1 OFD1
13 skeleton MP:0005390 9.65 MKS1 OFD1 SATB2 SHH TMEM67 ALX3
14 vision/eye MP:0005391 9.28 ADAMTS18 AHI1 ALX3 BBS2 BBS4 KIF7

Drugs & Therapeutics for Hydrolethalus Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877

Search NIH Clinical Center for Hydrolethalus Syndrome

Genetic Tests for Hydrolethalus Syndrome

Genetic tests related to Hydrolethalus Syndrome:

id Genetic test Affiliating Genes
1 Hydrolethalus Syndrome 1 29 24 HYLS1

Anatomical Context for Hydrolethalus Syndrome

MalaCards organs/tissues related to Hydrolethalus Syndrome:

39
Heart, Uterus, Adrenal Gland, Lung, Spleen, Pituitary

Publications for Hydrolethalus Syndrome

Articles related to Hydrolethalus Syndrome:

(show all 27)
id 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
The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation. ( 19656802 )
2009
4
Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level. ( 19400947 )
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
Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis. ( 10210131 )
1999
11
Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. ( 10486328 )
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
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
18
Sonographic detection of hydrolethalus syndrome. ( 1846379 )
1991
19
Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome. ( 2407847 )
1990
20
Hydrolethalus syndrome. ( 2074561 )
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

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

71
id Symbol AA change Variation ID SNP ID
1 HYLS1 p.Asp211Gly VAR_031867 rs104894232

ClinVar genetic disease variations for Hydrolethalus Syndrome:

6
id 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

Copy number variations for Hydrolethalus Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 16410 11 123500000 127400000 Copy number HYLS1 Hydrolethalus syndrome

Expression for Hydrolethalus Syndrome

Search GEO for disease gene expression data for Hydrolethalus Syndrome.

Pathways for Hydrolethalus Syndrome

Pathways related to Hydrolethalus Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 EVC2 KIF7 MKS1 OFD1 SHH
2
Show member pathways
11.89 AHI1 BBS2 BBS4 MKS1 OFD1 TMEM216
3
Show member pathways
11.37 EVC2 KIF7 LRP2 SHH

GO Terms for Hydrolethalus Syndrome

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.96 AHI1 BBS2 BBS4 EVC2 ICK KIF7
2 centrosome GO:0005813 9.91 AHI1 BBS4 HYLS1 MKS1 OFD1 TMEM67
3 centriole GO:0005814 9.76 AHI1 BBS4 MKS1 OFD1
4 ciliary membrane GO:0060170 9.71 BBS2 BBS4 EVC2 TMEM67
5 ciliary transition zone GO:0035869 9.62 BBS4 MKS1 TMEM216 TMEM67
6 ciliary basal body GO:0036064 9.5 AHI1 BBS2 BBS4 ICK KIF7 MKS1
7 BBSome GO:0034464 9.48 BBS2 BBS4
8 MKS complex GO:0036038 9.46 AHI1 MKS1 TMEM216 TMEM67
9 cilium GO:0005929 9.32 AHI1 BBS2 BBS4 EVC2 ICK KIF7
10 cytoplasm GO:0005737 10.31 AFP AHI1 BBS2 BBS4 CD96 DDX25
11 cytoskeleton GO:0005856 10.02 AHI1 BBS2 BBS4 EVC2 ICK MKS1

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.73 DDX25 ICK SATB2 SHH
2 hindbrain development GO:0030902 9.58 AHI1 SHH
3 heart looping GO:0001947 9.58 AHI1 BBS4 SHH
4 melanosome transport GO:0032402 9.57 BBS2 BBS4
5 brain morphogenesis GO:0048854 9.56 BBS2 BBS4
6 cell projection organization GO:0030030 9.56 AHI1 BBS2 BBS4 ICK MKS1 OFD1
7 osteoblast development GO:0002076 9.55 SATB2 SHH
8 ciliary basal body docking GO:0097711 9.55 AHI1 MKS1 OFD1 TMEM216 TMEM67
9 protein localization to organelle GO:0033365 9.54 BBS2 BBS4
10 striatum development GO:0021756 9.52 BBS2 BBS4
11 neural tube closure GO:0001843 9.51 BBS4 MKS1
12 non-motile cilium assembly GO:1905515 9.5 BBS2 BBS4 MKS1
13 response to leptin GO:0044321 9.49 BBS2 BBS4
14 leptin-mediated signaling pathway GO:0033210 9.48 BBS2 BBS4
15 photoreceptor cell outer segment organization GO:0035845 9.46 AHI1 BBS4
16 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.37 BBS2 BBS4
17 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.26 BBS2 BBS4
18 cilium assembly GO:0060271 9.23 AHI1 BBS2 BBS4 ICK MKS1 OFD1

Sources for Hydrolethalus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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