MCID: HYD001
MIFTS: 47

Hydranencephaly

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

Aliases & Classifications for Hydranencephaly

MalaCards integrated aliases for Hydranencephaly:

Name: Hydranencephaly 12 74 52 53 58 6 43 15
Hydroanencephaly 52

Characteristics:

Orphanet epidemiological data:

58
hydranencephaly
Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:4626
MeSH 43 D006832
NCIt 49 C98949
SNOMED-CT 67 30023002
ICD10 32 Q04.3
MESH via Orphanet 44 D006832
ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C0020225
Orphanet 58 ORPHA2177
UMLS 71 C0020225

Summaries for Hydranencephaly

NINDS : 53 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 lissencephaly. An important gene associated with Hydranencephaly is WDR81 (WD Repeat Domain 81), and among its related pathways/superpathways are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, pituitary and thalamus, and related phenotypes are global developmental delay and intrauterine growth retardation

NIH Rare Diseases : 52 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 : 74 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 144)
# Related Disease Score Top Affiliating Genes
1 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 34.9 LOC102724153 FLVCR2
2 lissencephaly 29.8 TUBA1A TMTC3 PAFAH1B1 NDE1 ARX
3 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.8
4 lethal hydranencephaly-diaphragmatic hernia syndrome 12.2
5 lissencephaly, x-linked, 2 12.0
6 microhydranencephaly 11.9
7 hydrocephalus, congenital, 1 11.5
8 partington x-linked mental retardation syndrome 11.2
9 x-linked lissencephaly with abnormal genitalia 11.2
10 hydrocephalus 10.6
11 alkuraya-kucinskas syndrome 10.6
12 congenital amyoplasia 10.6
13 posterior column ataxia 10.5 FLVCR2 FLVCR1
14 tubulinopathy-associated dysgyria 10.4 TUBB2B TUBA1A
15 posterior column ataxia with retinitis pigmentosa 10.4 FLVCR2 FLVCR1
16 cerebellar hypoplasia 10.4
17 porencephaly 10.4
18 holoprosencephaly 10.4
19 encephalopathy 10.3
20 paralytic squint 10.3 TUBB2B TUBA1A
21 pachygyria 10.3 TUBA1A PAFAH1B1
22 neuronal migration disorders 10.3 TUBA1A PAFAH1B1
23 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.3 WDR81 TUBB2B
24 toxoplasmosis 10.3
25 alobar holoprosencephaly 10.3
26 lissencephaly with cerebellar hypoplasia 10.3 PAFAH1B1 ARX
27 yemenite deaf-blind hypopigmentation syndrome 10.2
28 fowler urethral sphincter dysfunction syndrome 10.2
29 lissencephaly, x-linked, 1 10.2 PAFAH1B1 ARX
30 microlissencephaly 10.2 WDR81 TUBB2B TUBA1A NDE1
31 tubulinopathies 10.2 TUBG1 TUBB2B TUBA1A
32 encephalitis 10.2
33 microcephaly 10.2
34 diarrhea 10.1
35 congenital toxoplasmosis 10.1
36 herpes simplex 10.1
37 rubella 10.1
38 diabetes insipidus 10.1
39 chromosome 17p13.3, centromeric, duplication syndrome 10.1 WDR81 PAFAH1B1
40 lissencephaly 2 10.1 TUBB2B TUBA1A PAFAH1B1 ARX
41 tukel syndrome 10.1 WDR81 TUBG1 TUBB2B TUBA1A
42 infancy electroclinical syndrome 10.1 PAFAH1B1 ARX
43 anencephaly 10.0
44 schizencephaly 10.0
45 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
46 visual epilepsy 10.0
47 hypothyroidism 10.0
48 encephalomalacia 10.0
49 nervous system disease 10.0
50 cleft lip 10.0

Graphical network of the top 20 diseases related to Hydranencephaly:



Diseases related to Hydranencephaly

Symptoms & Phenotypes for Hydranencephaly

Human phenotypes related to Hydranencephaly:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
3 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
4 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
5 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
6 infantile sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0008610
7 abnormal corpus striatum morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0010994
8 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
9 meningitis 58 31 frequent (33%) Frequent (79-30%) HP:0001287
10 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
11 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
12 spastic diplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001264
13 opisthotonus 58 31 frequent (33%) Frequent (79-30%) HP:0002179
14 stiff neck 58 31 frequent (33%) Frequent (79-30%) HP:0025258
15 dilatation of the ventricular cavity 58 31 frequent (33%) Frequent (79-30%) HP:0006698
16 antenatal intracerebral hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0007023
17 abnormal cerebral artery morphology 58 31 frequent (33%) Frequent (79-30%) HP:0009145
18 abnormal dura mater morphology 58 31 frequent (33%) Frequent (79-30%) HP:0010652
19 abnormality of fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0011328
20 thalamic edema 58 31 frequent (33%) Frequent (79-30%) HP:0025040
21 dysgenesis of the thalamus 58 31 frequent (33%) Frequent (79-30%) HP:0025099
22 hypoplastic hippocampus 58 31 frequent (33%) Frequent (79-30%) HP:0025517
23 atrophic pituitary gland 58 31 frequent (33%) Frequent (79-30%) HP:0410279
24 abnormal internal carotid artery morphology 58 31 frequent (33%) Frequent (79-30%) HP:3000062
25 congenital microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0011451
26 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
27 optic nerve hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000609
28 chorioretinal atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000533
29 abnormality of vision 58 Excluded (0%)
30 hyporeflexia 58 Excluded (0%)
31 abnormality of the falx cerebri 58 Excluded (0%)

Drugs & Therapeutics for Hydranencephaly

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open Label Pilot Study to Treat Women With Chronic Urinary Retention or Voiding Dysfunction Due to a Primary Disorder of Sphincter Relaxation (Fowler's Syndrome) With Outpatient Urethral Injections of Botulinum Toxin A (BoNT-A) Completed NCT02428881 Phase 2, Phase 3 onabotulinumtoxinA

Search NIH Clinical Center for Hydranencephaly

Cochrane evidence based reviews: hydranencephaly

Genetic Tests for Hydranencephaly

Anatomical Context for Hydranencephaly

MalaCards organs/tissues related to Hydranencephaly:

40
Brain, Pituitary, Thalamus, Cortex, Heart, Eye, Kidney

Publications for Hydranencephaly

Articles related to Hydranencephaly:

(show top 50) (show all 492)
# Title Authors PMID Year
1
Involvement of the centrosomal protein 55 (cep55) gene in zebrafish head formation. 61
31365163 2019
2
Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature. 61
30929071 2019
3
The Benefits of a Guideline on Safe Termination of Pregnancy for Legal Indications: An Illustrative Case Report of a Hydranencephaly. 61
31433602 2019
4
An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation. 61
30726525 2019
5
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 61
30622327 2019
6
Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. 61
30637988 2019
7
First genomic detection of Peaton virus in a calf with hydranencephaly in Israel. 61
30394673 2019
8
Schmallenberg virus affects T-bet, Gata3, RoRrγt, Foxp3 and Eomes in mice brain. 61
31507194 2019
9
Schmallenberg virus: a systematic international literature review (2011-2019) from an Irish perspective. 61
31624588 2019
10
Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. 61
29541808 2018
11
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism. 61
29500860 2018
12
Seroprevalence of Schmallenberg virus in dairy cattle in Ethiopia. 61
29111139 2018
13
[Treatment with sublingual desmopressin in two infants with hydranencephaly and central diabetes insipidus]. 61
29333830 2018
14
Teratogenic bluetongue and related orbivirus infections in pregnant ruminant livestock: timing and pathogen genetics are critical. 61
29107849 2017
15
Congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus in newborn calves of Basrah Governorate, Iraq. 61
29062207 2017
16
Choroid plexus cauterization on treatment of hydranencephaly and maximal hydrocephalus. 61
28597309 2017
17
Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay. 61
29042871 2017
18
Evidence of extensive renewed Schmallenberg virus circulation in Belgium during summer of 2016 - increase in arthrogryposis-hydranencephaly cases expected. 61
28474485 2017
19
A large-scale serological survey of Akabane virus infection in cattle, yak, sheep and goats in China. 61
28757043 2017
20
Heparan Sulfate Proteoglycan Is an Important Attachment Factor for Cell Entry of Akabane and Schmallenberg Viruses. 61
28539443 2017
21
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 61
28264986 2017
22
Diagnosis and treatment of herpes simplex 1 virus infection in pregnancy. 61
28680463 2017
23
Infant outcomes among women with Zika virus infection during pregnancy: results of a large prenatal Zika screening program. 61
28153665 2017
24
Hydranencephaly in Monochorionic-Diamniotic Twins. 61
27876178 2017
25
Prevalence of Antibodies to Zika Virus in Mothers from Hawaii Who Delivered Babies with and without Microcephaly between 2009-2012. 61
27997547 2016
26
Characterization of Shuni viruses detected in Israel. 61
27540741 2016
27
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. 61
27677223 2016
28
A lethal phenotype associated with tissue plasminogen deficiency in humans. 61
27417437 2016
29
A Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed. 61
27790130 2016
30
Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise. 61
26914330 2016
31
Seroprevalence of Schmallenberg virus infection in sheep and goats flocks in Germany, 2012-2013. 61
29067177 2016
32
Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan. 61
26545857 2016
33
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy. 61
25677735 2016
34
SEVERE HYDROCEPHALUS, KIDNEY AND SKELETAL ANOMALIES IN A FEMALE PATIENT WITH MILD NEUROLOGICAL ALTERATIONS. 61
30204973 2016
35
Schmallenberg disease in sheep or goats: Past, present and future. 61
26441013 2015
36
Profound Bradycardia After Intrathecal Baclofen Injection in a Patient With Hydranencephaly. 61
26411756 2015
37
Ovine and Bovine Congenital Abnormalities Associated With Intrauterine Infection With Schmallenberg Virus. 61
25428409 2015
38
[Vascular disruption birth defects are not associated to chromosomal alterations]. 61
27311163 2015
39
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. 61
26493046 2015
40
Generation of a Recombinant Akabane Virus Expressing Enhanced Green Fluorescent Protein. 61
26157127 2015
41
Virus-induced congenital malformations in cattle. 61
26399846 2015
42
Central nervous system injury in utero: selected entities. 61
26346151 2015
43
Akabane virus infection. 61
26601444 2015
44
Hydranencephaly in a case of suspected infanticide. 61
24934161 2015
45
Hydranencephaly: Considering Prolonged Survival and Treatment by Endoscopic Choroid Plexus Coagulation. 61
26442548 2015
46
Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine. 61
25131804 2015
47
Endoscopic coagulation of choroid plexus in three children with severely advanced forms of hydrocephalus. 61
24202962 2015
48
Congenital multi-organ malformations in a Holstein calf. 61
26893818 2015
49
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. 61
26052266 2015
50
Increased expressions of ADAMTS-13, neuronal nitric oxide synthase, and neurofilament correlate with severity of neuropathology in Border disease virus-infected small ruminants. 61
25799514 2015

Variations for Hydranencephaly

ClinVar genetic disease variations for Hydranencephaly:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WDR81 NM_001163673.1(WDR81):c.59-4576G>ASNV Pathogenic/Likely pathogenic 183290 rs730882206 17:1629098-1629098 17:1725804-1725804

Expression for Hydranencephaly

Search GEO for disease gene expression data for Hydranencephaly.

Pathways for Hydranencephaly

Pathways related to Hydranencephaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.75 TUBG1 TUBA1A PAFAH1B1 CEP55
2
Show member pathways
10.83 TUBG1 TUBB2B TUBA1A

GO Terms for Hydranencephaly

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.33 SLC35C2 SERPINH1 KDELR1
2 cytoplasmic microtubule GO:0005881 9.13 TUBG1 TUBA1A PAFAH1B1
3 microtubule GO:0005874 9.02 TUBG1 TUBB2B TUBA1A PAFAH1B1 NDE1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.92 SLC49A3 SLC35E1 SLC35B1 FLVCR2 FLVCR1
2 cell division GO:0051301 9.85 TUBA1A PAFAH1B1 NDE1 CEP55
3 G2/M transition of mitotic cell cycle GO:0000086 9.73 TUBG1 TUBA1A PAFAH1B1 NDE1
4 mitotic cell cycle GO:0000278 9.71 TUBG1 TUBB2B TUBA1A
5 neuron migration GO:0001764 9.71 TUBB2B PAFAH1B1 NDE1 ARX
6 microtubule cytoskeleton organization GO:0000226 9.67 TUBG1 TUBB2B TUBA1A PAFAH1B1
7 neuroblast proliferation GO:0007405 9.51 PAFAH1B1 NDE1
8 microtubule nucleation GO:0007020 9.49 TUBG1 NDE1
9 vesicle transport along microtubule GO:0047496 9.48 PAFAH1B1 NDE1
10 microtubule organizing center organization GO:0031023 9.46 PAFAH1B1 NDE1
11 ciliary basal body-plasma membrane docking GO:0097711 9.46 TUBG1 TUBA1A PAFAH1B1 NDE1
12 heme export GO:0097037 9.32 FLVCR2 FLVCR1
13 UDP-glucose transmembrane transport GO:0015786 9.26 SLC35C2 SLC35B1
14 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.26 TUBG1 TUBA1A PAFAH1B1 NDE1
15 microtubule-based process GO:0007017 8.92 TUBG1 TUBB2B TUBA1A PAFAH1B1

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.13 TUBG1 TUBB2B TUBA1A
2 heme transporter activity GO:0015232 8.62 FLVCR2 FLVCR1

Sources for Hydranencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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