MCID: HYD001
MIFTS: 40

Hydranencephaly

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

Aliases & Classifications for Hydranencephaly

MalaCards integrated aliases for Hydranencephaly:

Name: Hydranencephaly 12 77 54 55 60 30 6 45 15
Hydroanencephaly 54

Characteristics:

Orphanet epidemiological data:

60
hydranencephaly
Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:



External Ids:

Disease Ontology 12 DOID:4626
MeSH 45 D006832
NCIt 51 C98949
SNOMED-CT 69 30023002
ICD10 34 Q04.3
MESH via Orphanet 46 D006832
ICD10 via Orphanet 35 Q04.3
UMLS via Orphanet 75 C0020225
Orphanet 60 ORPHA2177
UMLS 74 C0020225

Summaries for Hydranencephaly

NINDS : 55 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 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome and multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly. An important gene associated with Hydranencephaly is WDR81 (WD Repeat Domain 81). The drugs Acetylcholine and Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and pituitary, and related phenotypes are cellular and nervous system

NIH Rare Diseases : 54 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 : 77 Hydranencephaly is a condition in which the brain''s cerebral hemispheres are absent to a great degree... more...

Related Diseases for Hydranencephaly

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12.7
2 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.5
3 hypoplastic thumbs hydranencephaly 12.0
4 lethal hydranencephaly-diaphragmatic hernia syndrome 12.0
5 microhydranencephaly 11.9
6 lissencephaly, x-linked, 2 11.8
7 hydrocephalus, congenital, 1 11.1
8 partington x-linked mental retardation syndrome 11.1
9 x-linked lissencephaly with abnormal genitalia 11.1
10 cerebellar hypoplasia 10.4
11 porencephaly 10.3
12 hydrocephalus 10.3
13 fetal akinesia deformation sequence 10.0
14 schizencephaly 10.0
15 holoprosencephaly 10.0
16 encephalomalacia 10.0
17 herpes simplex 10.0
18 rubella 10.0
19 toxoplasmosis 10.0
20 polymicrogyria 10.0
21 congenital rubella 10.0
22 systemic lupus erythematosus 9.9
23 anencephaly 9.9
24 multiple pterygium syndrome, lethal type 9.9
25 multiple pterygium syndrome, escobar variant 9.9
26 roberts syndrome 9.9
27 stroke, ischemic 9.9
28 brittle bone disorder 9.9
29 hemorrhage, intracerebral 9.9
30 lymphatic malformation 7 9.9
31 hepatitis 9.9
32 zika fever 9.9
33 endocarditis 9.9
34 microphthalmia 9.9
35 microcephaly 9.9
36 rift valley fever 9.9
37 basilar artery occlusion 9.9
38 coccidioidomycosis 9.9
39 cholestasis 9.9
40 rhabdoid cancer 9.9
41 loeffler endocarditis 9.9
42 myopathy 9.9
43 pituitary hypoplasia 9.9
44 lupus erythematosus 9.9
45 cleft lip 9.9
46 encephalitis 9.9
47 bobble-head doll syndrome 9.9
48 congenital cytomegalovirus 9.9
49 fetal edema 9.9
50 hydrops fetalis 9.9

Graphical network of the top 20 diseases related to Hydranencephaly:



Diseases related to Hydranencephaly

Symptoms & Phenotypes for Hydranencephaly

MGI Mouse Phenotypes related to Hydranencephaly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.43 ARX COL4A1 NDE1 SLURP1 TUBA1A WDR81
2 nervous system MP:0003631 9.17 ARX COL4A1 FLVCR2 NDE1 SERPINH1 TUBA1A

Drugs & Therapeutics for Hydranencephaly

Drugs for Hydranencephaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Peripheral Nervous System Agents Phase 2, Phase 3
3 abobotulinumtoxinA Phase 2, Phase 3
4 Botulinum Toxins Phase 2, Phase 3
5 Neuromuscular Agents Phase 2, Phase 3
6 Acetylcholine Release Inhibitors Phase 2, Phase 3
7 Cholinergic Agents Phase 2, Phase 3
8 Neurotransmitter Agents Phase 2, Phase 3
9 incobotulinumtoxinA Phase 2, Phase 3
10 Botulinum Toxins, Type A Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Botulinum Toxin A Injections in Patients With Fowler's Syndrome Completed NCT02428881 Phase 2, Phase 3 onabotulinumtoxinA

Search 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 30

Anatomical Context for Hydranencephaly

MalaCards organs/tissues related to Hydranencephaly:

42
Brain, Heart, Pituitary, Lung, Eye, Endothelial, Cortex

Publications for Hydranencephaly

Articles related to Hydranencephaly:

(show top 50) (show all 241)
# Title Authors Year
1
An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation. ( 30726525 )
2019
2
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. ( 30622327 )
2019
3
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism. ( 29500860 )
2018
4
Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. ( 29541808 )
2018
5
First genomic detection of Peaton virus in a calf with hydranencephaly in Israel. ( 30394673 )
2018
6
Congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus in newborn calves of Basrah Governorate, Iraq. ( 29062207 )
2017
7
Choroid plexus cauterization on treatment of hydranencephaly and maximal hydrocephalus. ( 28597309 )
2017
8
Evidence of extensive renewed Schmallenberg virus circulation in Belgium during summer of 2016 - increase in arthrogryposis-hydranencephaly cases expected. ( 28474485 )
2017
9
Hydranencephaly in Monochorionic-Diamniotic Twins. ( 27876178 )
2016
10
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. ( 27677223 )
2016
11
EP02.11: Fetus with hydranencephaly survived until the full-term vaginal delivery. ( 27645807 )
2016
12
Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise. ( 26914330 )
2016
13
A Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed. ( 27790130 )
2016
14
Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan. ( 26545857 )
2015
15
Profound Bradycardia After Intrathecal Baclofen Injection in a Patient With Hydranencephaly. ( 26411756 )
2015
16
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. ( 26493046 )
2015
17
Hydranencephaly: Considering Prolonged Survival and Treatment by Endoscopic Choroid Plexus Coagulation. ( 26442548 )
2015
18
Brief report hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine. ( 25131804 )
2014
19
Volumetric analysis of cerebrospinal fluid and brain parenchyma in a patient with hydranencephaly and macrocephaly--case report. ( 25165052 )
2014
20
Hydranencephaly in a case of suspected infanticide. ( 24934161 )
2014
21
Endoscopic coagulation of choroid plexus in hydranencephaly. ( 25237437 )
2014
22
Theriogenology question of the month. Dystocia in a mare caused by fetal hydranencephaly. ( 25181265 )
2014
23
18F-FDG PET/CT in a 16-Year-Old Patient With Hydranencephaly. ( 24395017 )
2014
24
Consciousness without cortex: a hydranencephaly family survey. ( 24942496 )
2014
25
Choroid plexus coagulation in infants with extreme hydrocephalus or hydranencephaly. ( 24766307 )
2014
26
Hydranencephaly: cerebral spinal fluid instead of cerebral mantles. ( 25326191 )
2014
27
Looking at the missing brain: hydranencephaly case series and literature review. ( 23337012 )
2013
28
Hydranencephaly: a rare cause of delayed developmental milestones. ( 23632619 )
2013
29
Hydranencephaly. ( 23945496 )
2013
30
Fetal magnetic resonance imaging in hydranencephaly. ( 23574557 )
2013
31
Prenatal sonography in hydranencephaly: findings during the early stages of disease. ( 22535728 )
2012
32
Porencephaly and hydranencephaly in six dogs. ( 22186380 )
2012
33
Hydranencephaly: a rare cause of an enlarging head size in an infant. ( 23112982 )
2012
34
A rare variation of hydranencephaly: case report. ( 24627761 )
2012
35
Endoscopic choroid plexus coagulation in infants with hydranencephaly or hydrocephalus with a minimal cortical mantle. ( 22832209 )
2012
36
Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant. ( 22610272 )
2012
37
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
38
Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. ( 21357838 )
2011
39
Delayed diagnosis of hydranencephaly in a nine-month-old child. ( 24765326 )
2011
40
Hydranencephaly associated with cerebellar involvement and bilateral microphthalmia and colobomas. ( 20577730 )
2011
41
Congenital hydranencephaly and cerebellar hypoplasia in water buffalo in southern Brazil. ( 21908300 )
2011
42
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). ( 20206334 )
2010
43
Poland anomaly and hydranencephaly: An unusual association. ( 21108405 )
2010
44
Postoperative fatal hypothermia in hydranencephaly with pre-operative hypothermia and a nerve palsy: a case report and review of the literature. ( 23457850 )
2010
45
Bluetongue virus serotype 8-associated hydranencephaly in two calves in south-eastern England. ( 20693506 )
2010
46
Hydranencephaly vs hydrocephalus. ( 20871431 )
2010
47
Hydranencephaly. ( 21209513 )
2010
48
Sonographic diagnosis of brain malformations, part 2: holoprosencephaly - hydranencephaly - agenesis of septum pellucidum - schizencephaly - septo-optical dysplasia. ( 21117007 )
2010
49
Endoscopic choroid plexus cauterization versus ventriculoperitoneal shunt for hydranencephaly and near hydranencephaly: a prospective study. ( 20173541 )
2010
50
Post-mortem magnetic resonance imaging and its irreplaceable role in determining CNS malformation (hydranencephaly)--case report. ( 19394772 )
2010

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 neuron migration GO:0001764 9.32 ARX NDE1
2 ciliary basal body-plasma membrane docking GO:0097711 9.26 NDE1 TUBA1A
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.16 NDE1 TUBA1A
4 cell division GO:0051301 9.13 CEP55 NDE1 TUBA1A
5 forebrain development GO:0030900 8.62 ARX NDE1

Sources for Hydranencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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