MCID: HYD001
MIFTS: 44

Hydranencephaly

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

Aliases & Classifications for Hydranencephaly

MalaCards integrated aliases for Hydranencephaly:

Name: Hydranencephaly 12 75 53 54 59 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
MeSH 44 D006832
NCIt 50 C98949
SNOMED-CT 68 30023002
ICD10 33 Q04.3
MESH via Orphanet 45 D006832
ICD10 via Orphanet 34 Q04.3
UMLS via Orphanet 73 C0020225
Orphanet 59 ORPHA2177
UMLS 72 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 lissencephaly and proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. An important gene associated with Hydranencephaly is WDR81 (WD Repeat Domain 81). 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 seizures and global developmental delay

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 : 75 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 129)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 28.8 TUBA1A NDE1 ARX
2 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12.8
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 congenital hydrocephalus 10.6
12 alkuraya-kucinskas syndrome 10.6
13 congenital amyoplasia 10.6
14 cerebellar hypoplasia 10.4
15 porencephaly 10.4
16 holoprosencephaly 10.4
17 encephalopathy 10.3
18 toxoplasmosis 10.3
19 alobar holoprosencephaly 10.3
20 yemenite deaf-blind hypopigmentation syndrome 10.2
21 encephalitis 10.2
22 microcephaly 10.2
23 fetal akinesia deformation sequence 1 10.1
24 diarrhea 10.1
25 congenital toxoplasmosis 10.1
26 herpes simplex 10.1
27 rubella 10.1
28 diabetes insipidus 10.1
29 anencephaly 10.0
30 schizencephaly 10.0
31 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
32 microphthalmia 10.0
33 visual epilepsy 10.0
34 hypothyroidism 10.0
35 encephalomalacia 10.0
36 nervous system disease 10.0
37 cleft lip 10.0
38 pathologic nystagmus 10.0
39 polymicrogyria 10.0
40 congenital rubella 10.0
41 polymyositis 10.0
42 anoxia 10.0
43 seizure disorder 10.0
44 cerebral malformation 10.0
45 cleft lip/palate 10.0
46 cleft palate, isolated 9.9
47 systemic lupus erythematosus 9.9
48 myositis 9.9
49 optic nerve hypoplasia, bilateral 9.9
50 septooptic dysplasia 9.9

Graphical network of the top 20 diseases related to Hydranencephaly:



Diseases related to Hydranencephaly

Symptoms & Phenotypes for Hydranencephaly

Human phenotypes related to Hydranencephaly:

59 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 Frequent (79-30%)
2 global developmental delay 59 Very frequent (99-80%)
3 blindness 59 Very frequent (99-80%)
4 abnormality of vision 59 Excluded (0%)
5 intrauterine growth retardation 59 Very frequent (99-80%)
6 postnatal growth retardation 59 Very frequent (99-80%)
7 ventriculomegaly 59 Occasional (29-5%)
8 cerebral cortical atrophy 59 Very frequent (99-80%)
9 optic nerve hypoplasia 59 Occasional (29-5%)
10 meningitis 59 Frequent (79-30%)
11 hyporeflexia 59 Excluded (0%)
12 lethargy 59 Frequent (79-30%)
13 hypotelorism 59 Frequent (79-30%)
14 spastic diplegia 59 Frequent (79-30%)
15 infantile sensorineural hearing impairment 59 Very frequent (99-80%)
16 chorioretinal atrophy 59 Occasional (29-5%)
17 opisthotonus 59 Frequent (79-30%)
18 abnormal corpus striatum morphology 59 Very frequent (99-80%)
19 dilatation of the ventricular cavity 59 Frequent (79-30%)
20 antenatal intracerebral hemorrhage 59 Frequent (79-30%)
21 abnormal cerebral artery morphology 59 Frequent (79-30%)
22 abnormal dura mater morphology 59 Frequent (79-30%)
23 abnormality of fontanelles 59 Frequent (79-30%)
24 thalamic edema 59 Frequent (79-30%)
25 dysgenesis of the thalamus 59 Frequent (79-30%)
26 stiff neck 59 Frequent (79-30%)
27 hypoplastic hippocampus 59 Frequent (79-30%)
28 atrophic pituitary gland 59 Frequent (79-30%)
29 abnormal internal carotid artery morphology 59 Frequent (79-30%)
30 congenital microcephaly 59 Occasional (29-5%)
31 abnormality of the falx cerebri 59 Excluded (0%)

MGI Mouse Phenotypes related to Hydranencephaly:

46
# 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 Neurotransmitter Agents Phase 2, Phase 3
3 abobotulinumtoxinA Phase 2, Phase 3
4 Neuromuscular Agents Phase 2, Phase 3
5 Cholinergic Agents Phase 2, Phase 3
6 Peripheral Nervous System Agents Phase 2, Phase 3
7 Acetylcholine Release Inhibitors Phase 2, Phase 3
8 Botulinum Toxins 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 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:

41
Brain, Pituitary, Thalamus, Heart, Cortex, Kidney, Eye

Publications for Hydranencephaly

Articles related to Hydranencephaly:

(show top 50) (show all 490)
# Title Authors PMID Year
1
Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature. 38
30929071 2019
2
Involvement of the centrosomal protein 55 (cep55) gene in zebrafish head formation. 38
31365163 2019
3
The Benefits of a Guideline on Safe Termination of Pregnancy for Legal Indications: An Illustrative Case Report of a Hydranencephaly. 38
31433602 2019
4
An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation. 38
30726525 2019
5
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 38
30622327 2019
6
Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. 38
30637988 2019
7
First genomic detection of Peaton virus in a calf with hydranencephaly in Israel. 38
30394673 2019
8
Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. 38
29541808 2018
9
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism. 38
29500860 2018
10
Seroprevalence of Schmallenberg virus in dairy cattle in Ethiopia. 38
29111139 2018
11
[Treatment with sublingual desmopressin in two infants with hydranencephaly and central diabetes insipidus]. 38
29333830 2018
12
Teratogenic bluetongue and related orbivirus infections in pregnant ruminant livestock: timing and pathogen genetics are critical. 38
29107849 2017
13
Congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus in newborn calves of Basrah Governorate, Iraq. 38
29062207 2017
14
Choroid plexus cauterization on treatment of hydranencephaly and maximal hydrocephalus. 38
28597309 2017
15
Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay. 38
29042871 2017
16
Evidence of extensive renewed Schmallenberg virus circulation in Belgium during summer of 2016 - increase in arthrogryposis-hydranencephaly cases expected. 38
28474485 2017
17
Heparan Sulfate Proteoglycan Is an Important Attachment Factor for Cell Entry of Akabane and Schmallenberg Viruses. 38
28539443 2017
18
A large-scale serological survey of Akabane virus infection in cattle, yak, sheep and goats in China. 38
28757043 2017
19
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 38
28264986 2017
20
Diagnosis and treatment of herpes simplex 1 virus infection in pregnancy. 38
28680463 2017
21
Infant outcomes among women with Zika virus infection during pregnancy: results of a large prenatal Zika screening program. 38
28153665 2017
22
Hydranencephaly in Monochorionic-Diamniotic Twins. 38
27876178 2017
23
Prevalence of Antibodies to Zika Virus in Mothers from Hawaii Who Delivered Babies with and without Microcephaly between 2009-2012. 38
27997547 2016
24
Characterization of Shuni viruses detected in Israel. 38
27540741 2016
25
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. 38
27677223 2016
26
A lethal phenotype associated with tissue plasminogen deficiency in humans. 38
27417437 2016
27
A Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed. 38
27790130 2016
28
Seroprevalence of Schmallenberg virus infection in sheep and goats flocks in Germany, 2012-2013. 38
29067177 2016
29
Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise. 38
26914330 2016
30
Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan. 38
26545857 2016
31
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy. 38
25677735 2016
32
SEVERE HYDROCEPHALUS, KIDNEY AND SKELETAL ANOMALIES IN A FEMALE PATIENT WITH MILD NEUROLOGICAL ALTERATIONS. 38
30204973 2016
33
Profound Bradycardia After Intrathecal Baclofen Injection in a Patient With Hydranencephaly. 38
26411756 2015
34
Schmallenberg disease in sheep or goats: Past, present and future. 38
26441013 2015
35
Ovine and Bovine Congenital Abnormalities Associated With Intrauterine Infection With Schmallenberg Virus. 38
25428409 2015
36
[Vascular disruption birth defects are not associated to chromosomal alterations]. 38
27311163 2015
37
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. 38
26493046 2015
38
Generation of a Recombinant Akabane Virus Expressing Enhanced Green Fluorescent Protein. 38
26157127 2015
39
Virus-induced congenital malformations in cattle. 38
26399846 2015
40
Central nervous system injury in utero: selected entities. 38
26346151 2015
41
Akabane virus infection. 38
26601444 2015
42
Hydranencephaly in a case of suspected infanticide. 38
24934161 2015
43
Hydranencephaly: Considering Prolonged Survival and Treatment by Endoscopic Choroid Plexus Coagulation. 38
26442548 2015
44
Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine. 38
25131804 2015
45
Endoscopic coagulation of choroid plexus in three children with severely advanced forms of hydrocephalus. 38
24202962 2015
46
Congenital multi-organ malformations in a Holstein calf. 38
26893818 2015
47
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. 38
26052266 2015
48
Increased expressions of ADAMTS-13, neuronal nitric oxide synthase, and neurofilament correlate with severity of neuropathology in Border disease virus-infected small ruminants. 38
25799514 2015
49
Viral emergence and consequences for reproductive performance in ruminants: two recent examples (bluetongue and Schmallenberg viruses). 38
25472045 2014
50
Neuropathological microscopic features of abortions induced by Bunyavirus / or Flavivirus infections. 38
25425524 2014

Variations for Hydranencephaly

ClinVar genetic disease variations for Hydranencephaly:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WDR81 NM_001163673.1(WDR81): c.59-4576G> A single nucleotide variant Pathogenic/Likely pathogenic rs730882206 17:1629098-1629098 17:1725804-1725804

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 SERPINH1 COL4A1
2 cleavage furrow GO:0032154 8.62 NDE1 CEP55

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

Sources for Hydranencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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