MCID: HYD001
MIFTS: 37

Hydranencephaly

Categories: Ear diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hydranencephaly

MalaCards integrated aliases for Hydranencephaly:

Name: Hydranencephaly 12 76 53 54 59 29 6 44 15
Hydroanencephaly 53

Characteristics:

Orphanet epidemiological data:

59
hydranencephaly
Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:



External Ids:

Disease Ontology 12 DOID:4626
ICD10 33 Q04.3
MeSH 44 D006832
NCIt 50 C98949
SNOMED-CT 68 30023002
Orphanet 59 ORPHA2177
UMLS via Orphanet 74 C0020225
MESH via Orphanet 45 D006832
ICD10 via Orphanet 34 Q04.3
UMLS 73 C0020225

Summaries for Hydranencephaly

NINDS : 54 Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. An infant with hydranencephaly may appear normal at birth. The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal. However, after a few weeks the infant usually becomes irritable and has increased muscle tone. After a few months of life, seizures and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain) may develop. Other symptoms may include visual impairment, lack of growth, deafness, blindness, spastic quadriparesis (paralysis), and intellectual deficits. Hydranencephaly is considered to be an extreme form of porencephaly (a rare disorder characterized by a cyst or cavity in the cerebral hemispheres) and may be caused by vascular infections or traumatic disorders after the 12th week of pregnancy. Diagnosis may be delayed for several months because early behavior appears to be relatively normal. Some infants may have additional abnormalities at birth including seizures, myoclonus (spasm or twitching of a muscle or group of muscles), and respiratory problems.

MalaCards based summary : Hydranencephaly, also known as hydroanencephaly, is related to porencephaly and schizencephaly. An important gene associated with Hydranencephaly is WDR81 (WD Repeat Domain 81). Affiliated tissues include brain, eye and heart, and related phenotypes are Negative genetic interaction between PTEN-/- and PTEN+/+ and embryo

NIH Rare Diseases : 53 Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more. It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium. Treatment is generally symptomatic and supportive; hydrocephalus may be treated with a shunt.

Wikipedia : 76 Hydranencephaly is a condition in which the brain''s cerebral hemispheres are absent to varying degrees... more...

Related Diseases for Hydranencephaly

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 porencephaly 30.4 COL4A1 SIX3
2 schizencephaly 29.9 COL4A1 SIX3
3 anencephaly 29.9 FLVCR2 SIX3
4 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12.6
5 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.5
6 hypoplastic thumbs hydranencephaly 12.0
7 lethal hydranencephaly-diaphragmatic hernia syndrome 12.0
8 microhydranencephaly 11.9
9 lissencephaly, x-linked, 2 11.8
10 hydrocephalus, congenital, 1 11.0
11 partington x-linked mental retardation syndrome 11.0
12 x-linked lissencephaly with abnormal genitalia 11.0
13 cerebellar hypoplasia 10.3
14 hydrocephalus 10.3
15 viral infectious disease 10.2
16 spastic hemiplegia 10.0 COL4A1 SIX3
17 fetal akinesia deformation sequence 10.0
18 holoprosencephaly 10.0
19 encephalomalacia 10.0
20 herpes simplex 10.0
21 rubella 10.0
22 toxoplasmosis 10.0
23 polymicrogyria 10.0
24 congenital rubella 10.0
25 brain small vessel disease with or without ocular anomalies 10.0 COL4A1 SIX3
26 band heterotopia 9.9 SIX3 TUBA1A
27 microlissencephaly 9.9 NDE1 TUBA1A
28 systemic lupus erythematosus 9.8
29 multiple pterygium syndrome, lethal type 9.8
30 multiple pterygium syndrome, escobar variant 9.8
31 roberts syndrome 9.8
32 stroke, ischemic 9.8
33 brittle bone disorder 9.8
34 hydrops fetalis, nonimmune, and/or atrial septal defect 9.8
35 hepatitis 9.8
36 zika fever 9.8
37 endocarditis 9.8
38 microphthalmia 9.8
39 microcephaly 9.8
40 rift valley fever 9.8
41 basilar artery occlusion 9.8
42 coccidioidomycosis 9.8
43 cholestasis 9.8
44 infantile epileptic encephalopathy 9.8
45 rhabdoid cancer 9.8
46 loeffler endocarditis 9.8
47 myopathy 9.8
48 pituitary hypoplasia 9.8
49 lupus erythematosus 9.8
50 cleft lip 9.8

Graphical network of the top 20 diseases related to Hydranencephaly:



Diseases related to Hydranencephaly

Symptoms & Phenotypes for Hydranencephaly

GenomeRNAi Phenotypes related to Hydranencephaly according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 8.92 ARX COL4A1 SIX3 TUBA1A

MGI Mouse Phenotypes related to Hydranencephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.35 COL4A1 FLVCR2 NDE1 SERPINH1 SIX3
2 nervous system MP:0003631 9.23 ARX COL4A1 FLVCR2 NDE1 SERPINH1 SIX3

Drugs & Therapeutics for Hydranencephaly

Search Clinical Trials , NIH Clinical Center for Hydranencephaly

Cochrane evidence based reviews: hydranencephaly

Genetic Tests for Hydranencephaly

Genetic tests related to Hydranencephaly:

# Genetic test Affiliating Genes
1 Hydranencephaly 29

Anatomical Context for Hydranencephaly

MalaCards organs/tissues related to Hydranencephaly:

41
Brain, Eye, Heart, Pituitary, Lung, Cortex, Bone

Publications for Hydranencephaly

Articles related to Hydranencephaly:

(show top 50) (show all 239)
# Title Authors Year
1
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism. ( 29500860 )
2018
2
Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. ( 29541808 )
2018
3
First genomic detection of Peaton virus in a calf with hydranencephaly in Israel. ( 30394673 )
2018
4
Congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus in newborn calves of Basrah Governorate, Iraq. ( 29062207 )
2017
5
Choroid plexus cauterization on treatment of hydranencephaly and maximal hydrocephalus. ( 28597309 )
2017
6
Evidence of extensive renewed Schmallenberg virus circulation in Belgium during summer of 2016 - increase in arthrogryposis-hydranencephaly cases expected. ( 28474485 )
2017
7
Hydranencephaly in Monochorionic-Diamniotic Twins. ( 27876178 )
2016
8
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. ( 27677223 )
2016
9
EP02.11: Fetus with hydranencephaly survived until the full-term vaginal delivery. ( 27645807 )
2016
10
Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise. ( 26914330 )
2016
11
A Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed. ( 27790130 )
2016
12
Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan. ( 26545857 )
2015
13
Profound Bradycardia After Intrathecal Baclofen Injection in a Patient With Hydranencephaly. ( 26411756 )
2015
14
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. ( 26493046 )
2015
15
Hydranencephaly: Considering Prolonged Survival and Treatment by Endoscopic Choroid Plexus Coagulation. ( 26442548 )
2015
16
Brief report hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine. ( 25131804 )
2014
17
Volumetric analysis of cerebrospinal fluid and brain parenchyma in a patient with hydranencephaly and macrocephaly--case report. ( 25165052 )
2014
18
Hydranencephaly in a case of suspected infanticide. ( 24934161 )
2014
19
Endoscopic coagulation of choroid plexus in hydranencephaly. ( 25237437 )
2014
20
Theriogenology question of the month. Dystocia in a mare caused by fetal hydranencephaly. ( 25181265 )
2014
21
18F-FDG PET/CT in a 16-Year-Old Patient With Hydranencephaly. ( 24395017 )
2014
22
Consciousness without cortex: a hydranencephaly family survey. ( 24942496 )
2014
23
Choroid plexus coagulation in infants with extreme hydrocephalus or hydranencephaly. ( 24766307 )
2014
24
Hydranencephaly: cerebral spinal fluid instead of cerebral mantles. ( 25326191 )
2014
25
Looking at the missing brain: hydranencephaly case series and literature review. ( 23337012 )
2013
26
Hydranencephaly: a rare cause of delayed developmental milestones. ( 23632619 )
2013
27
Hydranencephaly. ( 23945496 )
2013
28
Fetal magnetic resonance imaging in hydranencephaly. ( 23574557 )
2013
29
Prenatal sonography in hydranencephaly: findings during the early stages of disease. ( 22535728 )
2012
30
Porencephaly and hydranencephaly in six dogs. ( 22186380 )
2012
31
Hydranencephaly: a rare cause of an enlarging head size in an infant. ( 23112982 )
2012
32
A rare variation of hydranencephaly: case report. ( 24627761 )
2012
33
Endoscopic choroid plexus coagulation in infants with hydranencephaly or hydrocephalus with a minimal cortical mantle. ( 22832209 )
2012
34
Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant. ( 22610272 )
2012
35
An unusual case of hydranencephaly presenting with an anterior midline cyst, a posterior calcified mass, cerebellar hypoplasia and occlusion of the posterior cerebral arteries. ( 21104240 )
2011
36
Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. ( 21357838 )
2011
37
Delayed diagnosis of hydranencephaly in a nine-month-old child. ( 24765326 )
2011
38
Hydranencephaly associated with cerebellar involvement and bilateral microphthalmia and colobomas. ( 20577730 )
2011
39
Congenital hydranencephaly and cerebellar hypoplasia in water buffalo in southern Brazil. ( 21908300 )
2011
40
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). ( 20206334 )
2010
41
Poland anomaly and hydranencephaly: An unusual association. ( 21108405 )
2010
42
Postoperative fatal hypothermia in hydranencephaly with pre-operative hypothermia and a nerve palsy: a case report and review of the literature. ( 23457850 )
2010
43
Bluetongue virus serotype 8-associated hydranencephaly in two calves in south-eastern England. ( 20693506 )
2010
44
Hydranencephaly vs hydrocephalus. ( 20871431 )
2010
45
Hydranencephaly. ( 21209513 )
2010
46
Sonographic diagnosis of brain malformations, part 2: holoprosencephaly - hydranencephaly - agenesis of septum pellucidum - schizencephaly - septo-optical dysplasia. ( 21117007 )
2010
47
Endoscopic choroid plexus cauterization versus ventriculoperitoneal shunt for hydranencephaly and near hydranencephaly: a prospective study. ( 20173541 )
2010
48
Post-mortem magnetic resonance imaging and its irreplaceable role in determining CNS malformation (hydranencephaly)--case report. ( 19394772 )
2010
49
Idiopathic hypereosinophilia syndrome with loeffler endocarditis, embolic cerebral infarction, and left hydranencephaly: a case report. ( 19960966 )
2009
50
Epizootic congenital hydranencephaly and abortion in cattle due to bluetongue virus serotype 8 in the Netherlands. ( 19522347 )
2009

Variations for Hydranencephaly

ClinVar genetic disease variations for Hydranencephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR81 NM_001163809.1(WDR81): c.845G> A (p.Gly282Glu) single nucleotide variant Pathogenic/Likely pathogenic rs730882206 GRCh38 Chromosome 17, 1725804: 1725804
2 WDR81 NM_001163809.1(WDR81): c.845G> A (p.Gly282Glu) single nucleotide variant Pathogenic/Likely pathogenic rs730882206 GRCh37 Chromosome 17, 1629098: 1629098

Expression for Hydranencephaly

Search GEO for disease gene expression data for Hydranencephaly.

Pathways for Hydranencephaly

GO Terms for Hydranencephaly

Cellular components related to Hydranencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 8.96 COL4A1 SERPINH1
2 cleavage furrow GO:0032154 8.62 CEP55 NDE1

Biological processes related to Hydranencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.62 ARX CEP55 NDE1 SIX3
2 ciliary basal body-plasma membrane docking GO:0097711 9.37 NDE1 TUBA1A
3 cell division GO:0051301 9.33 CEP55 NDE1 TUBA1A
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.26 NDE1 TUBA1A
5 forebrain development GO:0030900 8.96 ARX NDE1
6 cell proliferation in forebrain GO:0021846 8.62 ARX SIX3

Molecular functions related to Hydranencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 8.62 ARX SIX3

Sources for Hydranencephaly

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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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