HYC2
MCID: HYD065
MIFTS: 22

Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies (HYC2)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

MalaCards integrated aliases for Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies:

Name: Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies 58 76 30 6
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 13 41
Hyc2 58 76
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2, Formerly 58
Hydrocephalus, Non-Syndromic, Autosomal Recessive 2 76

Characteristics:

OMIM:

58
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:

33
hydrocephalus, congenital, 2, with or without brain or eye anomalies:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

OMIM : 58 Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017). For a discussion of genetic heterogeneity of congenital hydrocephalus, see 233600. (615219)

MalaCards based summary : Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies, is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, and has symptoms including seizures An important gene associated with Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies is MPDZ (Multiple PDZ Domain Crumbs Cell Polarity Complex Component). Affiliated tissues include brain, eye and heart, and related phenotypes are sensorineural hearing impairment and optic atrophy

UniProtKB/Swiss-Prot : 76 Hydrocephalus, congenital, 2, with or without brain or eye anomalies: A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC2 affected individuals have variable neurologic impairment. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and non-specific dysmorphic features, may be observed. HYC2 inheritance is autosomal recessive.

Related Diseases for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

Symptoms & Phenotypes for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

Human phenotypes related to Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 very rare (1%) HP:0000407
2 optic atrophy 33 very rare (1%) HP:0000648
3 macrocephaly 33 HP:0000256
4 frontal bossing 33 HP:0002007
5 intellectual disability 33 HP:0001249
6 seizures 33 HP:0001250
7 abnormal facial shape 33 HP:0001999
8 strabismus 33 HP:0000486
9 ventriculomegaly 33 HP:0002119
10 motor delay 33 HP:0001270
11 downslanted palpebral fissures 33 HP:0000494
12 iris coloboma 33 HP:0000612
13 posteriorly rotated ears 33 HP:0000358
14 communicating hydrocephalus 33 HP:0001334
15 lissencephaly 33 HP:0001339
16 colpocephaly 33 HP:0030048
17 macular hypoplasia 33 HP:0001104
18 simplified gyral pattern 33 HP:0009879
19 gray matter heterotopia 33 HP:0002282

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
asymmetric face
dysmorphic facial features, variable

Head And Neck Nose:
bulbous nose

Neurologic Central Nervous System:
lissencephaly
colpocephaly
seizures (in some patients)
dilated ventricles
intellectual disability (in some patients)
more
Head And Neck Head:
macrocephaly due to hydrocephalus

Head And Neck Eyes:
strabismus
iris coloboma
downslanting palpebral fissures
optic atrophy (in some patients)
macular hypoplasia
more
Head And Neck Ears:
posteriorly rotated ears
sensorineural hearing loss (1 patient)

Prenatal Manifestations Placenta And Umbilical Cord:
two-vessel cord

Cardiovascular Heart:
congenital heart defects, septal

Clinical features from OMIM:

615219

UMLS symptoms related to Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies:


seizures

Drugs & Therapeutics for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

Search Clinical Trials , NIH Clinical Center for Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies

Genetic Tests for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

Genetic tests related to Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies:

# Genetic test Affiliating Genes
1 Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies 30 MPDZ

Anatomical Context for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

MalaCards organs/tissues related to Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies:

42
Brain, Eye, Heart, Cortex

Publications for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

Articles related to Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies:

# Title Authors Year
1
The genetic landscape of familial congenital hydrocephalus. ( 28556411 )
2017
2
Mutation in MPDZ causes severe congenital hydrocephalus. ( 23240096 )
2013

Variations for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

ClinVar genetic disease variations for Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies:

6 (show all 16)
# 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.4469del (p.Gln1490Argfs) deletion Pathogenic rs781251438 GRCh38 Chromosome 9, 13126768: 13126768
10 MPDZ NM_003829.4(MPDZ): c.4469del (p.Gln1490Argfs) deletion Pathogenic rs781251438 GRCh37 Chromosome 9, 13126767: 13126767
11 MPDZ NM_003829.4(MPDZ): c.2230C> T (p.Arg744Ter) single nucleotide variant Pathogenic rs922703465 GRCh38 Chromosome 9, 13188918: 13188918
12 MPDZ NM_003829.4(MPDZ): c.2230C> T (p.Arg744Ter) single nucleotide variant Pathogenic rs922703465 GRCh37 Chromosome 9, 13188917: 13188917
13 MPDZ NM_003829.4(MPDZ): c.3211C> T (p.Arg1071Ter) single nucleotide variant Pathogenic rs376078512 GRCh37 Chromosome 9, 13168408: 13168408
14 MPDZ NM_003829.4(MPDZ): c.3211C> T (p.Arg1071Ter) single nucleotide variant Pathogenic rs376078512 GRCh38 Chromosome 9, 13168409: 13168409
15 MPDZ NM_003829.4(MPDZ): c.5278G> A (p.Ala1760Thr) single nucleotide variant Pathogenic rs1554644827 GRCh38 Chromosome 9, 13119603: 13119603
16 MPDZ NM_003829.4(MPDZ): c.5278G> A (p.Ala1760Thr) single nucleotide variant Pathogenic rs1554644827 GRCh37 Chromosome 9, 13119602: 13119602

Expression for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

Search GEO for disease gene expression data for Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies.

Pathways for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

GO Terms for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

Sources for Hydrocephalus, Congenital, 2, with or Without Brain or Eye...

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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