MCID: HYD043
MIFTS: 29

Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

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

Aliases & Classifications for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

MalaCards integrated aliases for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2:

Name: Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 57 29 13 6 40 73
Hyc2 57 75
Hydrocephalus, Non-Syndromic, Autosomal Recessive 2 75
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 73
Ventriculomegaly 75
Hydrocephalus 73
Hydrocephaly 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
onset in utero
congenital defects aside from hydrocephalus are variable
some patients may have normal neurologic development, whereas other may die in infancy


HPO:

32
hydrocephalus, nonsyndromic, autosomal recessive 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 75 Hydrocephalus, non-syndromic, autosomal recessive 2: A disease characterized by a disturbance of cerebrospinal fluid circulation causing accumulation of ventricular cerebrospinal fluid, which results in progressive ventricular dilatation with onset in utero. Affected individuals may have neurologic impairment.

MalaCards based summary : Hydrocephalus, Nonsyndromic, Autosomal Recessive 2, also known as hyc2, is related to ventriculomegaly with cystic kidney disease and proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, and has symptoms including back pain, headache and pain. An important gene associated with Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 is MPDZ (Multiple PDZ Domain Crumbs Cell Polarity Complex Component). Affiliated tissues include heart and cortex, and related phenotypes are macrocephaly and intellectual disability

Description from OMIM: 615219

Related Diseases for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

Diseases in the Hydrocephalus family:

Hydrocephalus, Autosomal Dominant Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
Congenital Hydrocephalus Hydrocephalus Autosomal Recessive

Diseases related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 ventriculomegaly with cystic kidney disease 12.4
2 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12.4
3 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.3
4 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.0
5 vacterl hydrocephaly 12.0
6 vacterl association with hydrocephaly, x-linked 11.9
7 ventriculomegaly with defects of the radius and kidney 11.9
8 cerebellum agenesis hydrocephaly 11.8
9 enamel hypoplasia cataract hydrocephaly 11.8
10 growth retardation hydrocephaly lung hypoplasia 11.8
11 hydrocephaly corpus callosum agenesis diaphragmatic hernia 11.8
12 hydrocephalus, nonsyndromic, autosomal recessive 1 11.1
13 hydrolethalus syndrome 2 11.0
14 tenorio syndrome 11.0
15 game friedman paradice syndrome 11.0
16 palmer pagon syndrome 11.0
17 nijmegen breakage syndrome 10.9
18 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 10.9
19 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
20 hurler syndrome 10.9
21 hurler-scheie syndrome 10.9
22 microphthalmia, syndromic 12 10.9
23 hydrocephalus with associated malformations 10.8
24 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 10.8
25 hydrocephalus with cerebellar agenesis 10.8
26 congenital hydrocephalus 10.8
27 daish hardman lamont syndrome 10.8
28 hydranencephaly 10.2
29 anencephaly 10.0
30 neural tube defects 9.9
31 angelman syndrome 9.8
32 femoral-facial syndrome 9.8
33 torticollis 9.8
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
35 lissencephaly 9.8
36 brachydactyly 9.8
37 microphthalmia 9.8
38 microcephaly 9.8
39 respiratory failure 9.8
40 arachnoiditis 9.8
41 meningitis 9.8
42 arachnoid cysts 9.8
43 exencephaly 9.8
44 lipoblastoma 9.8
45 neonatal meningitis 9.8
46 penoscrotal transposition 9.8
47 phocomelia 9.8
48 endotheliitis 9.8
49 medium-chain acyl-coenzyme a dehydrogenase deficiency 9.0 ACADM DLSTP1

Graphical network of the top 20 diseases related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 2:



Diseases related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

Symptoms & Phenotypes for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
asymmetric face
dysmorphic facial features, variable

Head And Neck Nose:
bulbous nose

Head And Neck Ears:
posteriorly rotated ears
sensorineural hearing loss (1 patient)

Head And Neck Head:
macrocephaly due to hydrocephalus

Head And Neck Eyes:
strabismus
iris coloboma
macular hypoplasia
downslanting palpebral fissures
optic atrophy (in some patients)
more
Neurologic Central Nervous System:
lissencephaly
colpocephaly
seizures (in some patients)
dilated ventricles
intellectual disability (in some patients)
more
Prenatal Manifestations Placenta And Umbilical Cord:
two-vessel cord

Cardiovascular Heart:
congenital heart defects, septal


Clinical features from OMIM:

615219

Human phenotypes related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 2:

32
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 communicating hydrocephalus 32 HP:0001334
5 cortical gyral simplification 32 HP:0009879

UMLS symptoms related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 2:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

Drugs & Therapeutics for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

Search Clinical Trials , NIH Clinical Center for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

Genetic Tests for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

Genetic tests related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 29 MPDZ

Anatomical Context for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

MalaCards organs/tissues related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 2:

41
Heart, Cortex

Publications for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

Variations for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

ClinVar genetic disease variations for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MPDZ NM_001261406.1(MPDZ): c.628C> T (p.Gln210Ter) single nucleotide variant Pathogenic rs372127610 GRCh37 Chromosome 9, 13222351: 13222351
2 MPDZ NM_001261406.1(MPDZ): c.628C> T (p.Gln210Ter) single nucleotide variant Pathogenic rs372127610 GRCh38 Chromosome 9, 13222352: 13222352
3 ACADM NM_000016.5(ACADM): c.698T> C (p.Ile233Thr) single nucleotide variant Likely pathogenic rs770273135 GRCh37 Chromosome 1, 76211589: 76211589
4 ACADM NM_000016.5(ACADM): c.698T> C (p.Ile233Thr) single nucleotide variant Likely pathogenic rs770273135 GRCh38 Chromosome 1, 75745904: 75745904
5 MPDZ NM_003829.4(MPDZ): c.4906C> T (p.Arg1636Ter) single nucleotide variant Likely pathogenic rs797045095 GRCh37 Chromosome 9, 13123199: 13123199
6 MPDZ NM_003829.4(MPDZ): c.4906C> T (p.Arg1636Ter) single nucleotide variant Likely pathogenic rs797045095 GRCh38 Chromosome 9, 13123200: 13123200
7 MPDZ NM_003829.4(MPDZ): c.755G> A (p.Trp252Ter) single nucleotide variant Pathogenic rs797045707 GRCh37 Chromosome 9, 13221492: 13221492
8 MPDZ NM_003829.4(MPDZ): c.755G> A (p.Trp252Ter) single nucleotide variant Pathogenic rs797045707 GRCh38 Chromosome 9, 13221493: 13221493
9 MPDZ NM_003829.4(MPDZ): c.5302C> T (p.Gln1768Ter) single nucleotide variant Pathogenic rs886043499 GRCh37 Chromosome 9, 13119578: 13119578
10 MPDZ NM_003829.4(MPDZ): c.5302C> T (p.Gln1768Ter) single nucleotide variant Pathogenic rs886043499 GRCh38 Chromosome 9, 13119579: 13119579

Expression for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

Search GEO for disease gene expression data for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2.

Pathways for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

GO Terms for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

Sources for Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

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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