HYC2
MCID: HYD065
MIFTS: 21

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 57 75 29 6
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 13 40
Hyc2 57 75
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2, Formerly 57
Hydrocephalus, Non-Syndromic, Autosomal Recessive 2 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, 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 : 57 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 macrocephaly and frontal bossing

UniProtKB/Swiss-Prot : 75 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 impairement. 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...

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, Congenital, 2, with or Without Brain or Eye Anomalies:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 frontal bossing 32 HP:0002007
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 abnormal facial shape 32 HP:0001999
6 sensorineural hearing impairment 32 very rare (1%) HP:0000407
7 optic atrophy 32 very rare (1%) HP:0000648
8 strabismus 32 HP:0000486
9 ventriculomegaly 32 HP:0002119
10 motor delay 32 HP:0001270
11 downslanted palpebral fissures 32 HP:0000494
12 iris coloboma 32 HP:0000612
13 lissencephaly 32 HP:0001339
14 heterotopia 32 HP:0002282
15 posteriorly rotated ears 32 HP:0000358
16 communicating hydrocephalus 32 HP:0001334
17 macular hypoplasia 32 HP:0001104
18 colpocephaly 32 HP:0030048
19 cortical gyral simplification 32 HP:0009879

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 29 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:

41
Brain, Eye, Heart, Cortex

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

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 18)
# 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
11 MPDZ NM_003829.4(MPDZ): c.4469del (p.Gln1490Argfs) deletion Pathogenic GRCh38 Chromosome 9, 13126768: 13126768
12 MPDZ NM_003829.4(MPDZ): c.4469del (p.Gln1490Argfs) deletion Pathogenic GRCh37 Chromosome 9, 13126767: 13126767
13 MPDZ NM_003829.4(MPDZ): c.2230C> T (p.Arg744Ter) single nucleotide variant Pathogenic rs922703465 GRCh38 Chromosome 9, 13188918: 13188918
14 MPDZ NM_003829.4(MPDZ): c.2230C> T (p.Arg744Ter) single nucleotide variant Pathogenic rs922703465 GRCh37 Chromosome 9, 13188917: 13188917
15 MPDZ NM_003829.4(MPDZ): c.3211C> T (p.Arg1071Ter) single nucleotide variant Pathogenic rs376078512 GRCh37 Chromosome 9, 13168408: 13168408
16 MPDZ NM_003829.4(MPDZ): c.3211C> T (p.Arg1071Ter) single nucleotide variant Pathogenic rs376078512 GRCh38 Chromosome 9, 13168409: 13168409
17 MPDZ NM_003829.4(MPDZ): c.5278G> A (p.Ala1760Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 13119603: 13119603
18 MPDZ NM_003829.4(MPDZ): c.5278G> A (p.Ala1760Thr) single nucleotide variant Pathogenic 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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