HYC2
MCID: HYD065
MIFTS: 34

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

Categories: Eye diseases, 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 72 29 6
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 13 39 70
Hyc2 57 72
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2, Formerly 57
Hydrocephalus, Non-Syndromic, Autosomal Recessive 2 72
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 70
Hydrocephalus 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
hydrocephalus, congenital, 2, with or without brain or eye anomalies:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


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) (Updated 20-May-2021)

MalaCards based summary : Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies, also known as hydrocephalus, nonsyndromic, autosomal recessive 2, is related to congenital hydrocephalus, and has symptoms including seizures, tremor and back pain. 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). The drugs Propofol and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and pituitary, and related phenotypes are sensorineural hearing impairment and optic atrophy

UniProtKB/Swiss-Prot : 72 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...

Diseases related to Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital hydrocephalus 9.5 MPDZ ACADM

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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 very rare (1%) HP:0000407
2 optic atrophy 31 very rare (1%) HP:0000648
3 macrocephaly 31 HP:0000256
4 intellectual disability 31 HP:0001249
5 frontal bossing 31 HP:0002007
6 abnormal facial shape 31 HP:0001999
7 strabismus 31 HP:0000486
8 motor delay 31 HP:0001270
9 downslanted palpebral fissures 31 HP:0000494
10 iris coloboma 31 HP:0000612
11 ventriculomegaly 31 HP:0002119
12 bulbous nose 31 HP:0000414
13 posteriorly rotated ears 31 HP:0000358
14 colpocephaly 31 HP:0030048
15 macular hypoplasia 31 HP:0001104
16 lissencephaly 31 HP:0001339
17 gray matter heterotopia 31 HP:0002282
18 communicating hydrocephalus 31 HP:0001334
19 simplified gyral pattern 31 HP:0009879
20 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
frontal bossing
asymmetric face
dysmorphic facial features, variable

Head And Neck Nose:
bulbous nose

Neurologic Central Nervous System:
colpocephaly
lissencephaly
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
macular hypoplasia
downslanting palpebral fissures
optic atrophy (in some patients)
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 (Updated 20-May-2021)

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


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

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

Drugs for Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
3
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
4
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
5
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
6 Anesthetics Phase 4
7 Adrenergic alpha-Agonists Phase 4
8 Hypnotics and Sedatives Phase 4
9 Anesthetics, General Phase 4
10 Anesthetics, Inhalation Phase 4
11 Adrenergic Agents Phase 4
12 Adrenergic Agonists Phase 4
13 Analgesics, Non-Narcotic Phase 4
14 Neurotransmitter Agents Phase 4
15 Analgesics Phase 4
16 Sodium Channel Blockers Phase 4
17 Anti-Arrhythmia Agents Phase 4
18 Pharmaceutical Solutions Phase 4
19 Diuretics, Potassium Sparing Phase 4
20 Cholinergic Agents Phase 4
21 Anesthetics, Intravenous Phase 4
22 Cholinergic Antagonists Phase 4
23 Muscarinic Antagonists Phase 4
24 Platelet Aggregation Inhibitors Phase 4
25 Anesthetics, Local Phase 4
26
Glycopyrrolate Phase 4 596-51-0 3494
27
Rifampicin Approved Phase 3 13292-46-1 5458213 5381226
28
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
29
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
30
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
31
Remifentanil Approved Phase 3 132875-61-7 60815
32
Isoflurane Approved, Vet_approved Phase 3 26675-46-7 3763
33 Flutemetamol Investigational Phase 3 637003-10-2
34 Anti-Bacterial Agents Phase 3
35 Antibiotics, Antitubercular Phase 3
36 Anti-Infective Agents Phase 3
37 Clindamycin palmitate Phase 3
38 Clindamycin phosphate Phase 3
39 Psychotropic Drugs Phase 3
40 Anti-Anxiety Agents Phase 3
41 GABA Modulators Phase 3
42 Anticonvulsants Phase 3
43 diuretics Phase 3
44 Carbonic Anhydrase Inhibitors Phase 3
45 Radiopharmaceuticals Phase 3
46 Liver Extracts Phase 2
47
Acetaminophen Approved Phase 1 103-90-2 1983
48
Coal tar Approved Phase 1 8007-45-2
49 Antipyretics Phase 1
50
Cisplatin Approved 15663-27-1 84093 441203 2767

Interventional clinical trials:

(show top 50) (show all 145)
# Name Status NCT ID Phase Drugs
1 An Operator-Blinded Study of the Efficacy of ShuntCheck-Micro-Pumper, a Non-Invasive Diagnostic Procedure, in Detecting Ventricular Shunt Patency or Occlusion and in Predicting Clinical Outcome in Children and Adolescents Presenting to Emergency Departments and Neurosurgery Clinics Unknown status NCT01881711 Phase 4
2 Validation of a New Non Invasive Method of Indirect Measurement of the Intracranial Pressure Variations Unknown status NCT01685450 Phase 4
3 A Double- Blinded Comparison of the Accuracy of ShuntCheck, a Non-Invasive Device, to Radionuclide Shunt Patency Test in Evaluating Shunt Function in Patients With Adult Hydrocephalus With Possible Shunt Obstruction Completed NCT01323764 Phase 4
4 An Observer-blinded Randomized Study of Propofol Infusion vs Bolus Dexmedetomidine and Propofol Sedation for Pediatric Magnetic Resonance Imaging Completed NCT03513757 Phase 4 propofol;Dexmedetomidine;Glycopyrrolate;Lidocaine 1% Injectable Solution;Nitrous Oxide;Sevoflurane
5 Accuracy of ShuntCheck and MRI in Detection of Shunt Obstruction in Patients Receiving Shunt Patency Test Withdrawn NCT00793416 Phase 4
6 Contrast Enhanced Ultrasound Evaluation of Brain Perfusion in Neonatal Post-Hemorrhagic Hydrocephalus Withdrawn NCT03061045 Phase 4 Sulfur Hexafluoride Lipid Type A Microspheres 25 MG Intravenous Powder for Suspension [LUMASON]
7 Lumbar Drainage for Communicating Hydrocephalus After Intraventricular Hemorrhage: a Randomised, Controlled Trial(LUCAS-IVH: LUmbar CAtheter for Severe IntraVentricular Hemorrhage) Completed NCT01041950 Phase 2, Phase 3
8 A Principal, Open-Label, Single Center Study to Validate the Detection of Cerebral Cortical Amyloid With Flutemetamol (18F) Injection in Subjects Previously Biopsied Completed NCT01053312 Phase 3 [18F] Flutemetamol
9 A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System. Completed NCT00196196 Phase 3
10 The Impact of Ventricular Catheter Impregnated With Antimicrobial Agents on Infection in Patients With Ventricular Catheter: A Prospective Randomized Study Completed NCT00286104 Phase 3
11 Baskent University Institutional Review Board Completed NCT02325583 Phase 3 30% Glucose;Midazolam
12 A Randomized Controlled Trial of Anterior Versus Posterior Entry Site for Cerebrospinal Fluid Shunt Insertion Active, not recruiting NCT02425761 Phase 3
13 A Principal, Prospective, Open-label Biopsy Study to Validate Detection of Cerebral Cortical Amyloid With Flutemetamol (18F) Injection in Normal Pressure Hydrocephalus (NPH) Subjects. Terminated NCT01092546 Phase 3 [18F]Flutemetamol
14 Isoflurane-induced Neuroinflammation in Children With Hydrocephalus: A Bench-to-bedside, Translational Study of Molecular Pathways and Therapeutic Approaches Terminated NCT02512809 Phase 3 Isoflurane;Dexmedetomidine
15 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
16 Acetazolamide for Treating NPH in Shunt-candidates Patients: an Open Label Feasibility Trial Unknown status NCT03779594 Phase 2 Acetazolamide
17 Clinical Study of Idiopathic Normal Pressure Hydrocephalus for Neurological Improvement Completed NCT00221091 Phase 2
18 International Infant Hydrocephalus Study: A Multicentre, Prospective Study Completed NCT00652470 Phase 2
19 Effect of Intraventricular tPA Following Aneurysmal Subarachnoid Hemorrhage Withdrawn NCT01878136 Phase 1, Phase 2 Tissue Plasminogen Activator
20 Blood-Brain Barrier Penetration of Therapeutic Agents in Human - an Exploratory Repeated Dose Pharmacokinetic Study in Patients With Idiopathic Normal Pressure Hydrocephalus Treated With Cerebroventricular Shunting Recruiting NCT04571996 Phase 1 ODM-104;Paracetamol
21 Transcranial and Rapid Magnetic Stimulation for Gait Apraxia Due to Normal Pressure Hydrocephalus and Cerebral Ischemia Unknown status NCT00494689
22 CRT ShuntCheck "Fit & Function" Exploratory Study Unknown status NCT02067364
23 Computerised Testing of Cognitive Response to Cerebrospinal Fluid Shunting in Idiopathic Normal Pressure Hydrocephalus Unknown status NCT01618500
24 European Multicenter Study on the Prediction of Outcome in Patients With Idiopathic Normal Pressure Hydrocephalus Unknown status NCT00874198
25 Benefit of Flow Magnetic Resonance Imaging in the Management of Normal Pressure Hydrocephalus Unknown status NCT01909960
26 Effect of Depletive Lumbar Puncture and Cerebrospinal Fluid Shunt Surgery on Lower Urinary Tract Dysfunction in Normal Pressure Hydrocephalus Unknown status NCT03877107
27 Endoscopic Third Ventriculostomy Versus Ventriculo-peritoneal Shunting in Idiopathic Normal Pressure Hydrocephalus Unknown status NCT03245138
28 The Brain Structure and Neural Network Changing the Before and After Ventriculo-peritoneal Shunting in the Normal Pressure Hydrocephalus Patients Unknown status NCT03092804
29 Multimodal Investigation in the Diagnosis and Treatment of Chronic Adult Hydrocephalus Unknown status NCT02278848
30 Comparison of Optic Nerve Sheath Diameter on Retrobulbar Ultrasonography Before and After Drainage of Cerebrospinal Fluid in Pediatric Patient With Hydrocephalus Unknown status NCT01865149
31 Brain Ultrasound in the Weaning of External Ventricular Leads Unknown status NCT03531723
32 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Unknown status NCT02775669
33 Physician Preference Study of the Utility of ShuntCheck to Detect Cerebrospinal Fluid (CSF) in Patients With Ventriculo-Peritoneal CSF Shunts Unknown status NCT00583336
34 Tablet-guided Versus Freehand (Tab-Guide) Ventriculostomy : Study Protocol to the Test Accuracy of Ventriculostomy in a Randomized Controlled Trial Unknown status NCT02048553
35 The Prediction of Intracranial Pressure and Clinical Outcome by Transcranial Doppler in Neurocritical Patients Unknown status NCT00886054
36 An Open-Label, Non-Randomized, Comparative Study Designed to Evaluate the Accuracy and Safety of HS-1000 Device, a Non-Invasive Brain Monitor Unknown status NCT02775136
37 Transitional Care Services: A Quality and Safety Process Improvement Programme in Neurosurgery Unknown status NCT03593330
38 Use of Targeted Quantitative Proteomics and Metabolic Labelling With Stable Isotopes for the Diagnosis and the Investigation of Neurological Disorders and in Particular Alzheimer Disease Unknown status NCT02263235
39 Prospective Follow-up of a Multicentric Cohort of Children With Prenatal Discovery of Mild Isolated Cerebral Ventriculomegaly. Evaluation at 2 and 5 Years. Unknown status NCT00421772
40 Investigating the Efficacy of Simulation Curricula in Neurosurgical Education Unknown status NCT02988154
41 Phase II Study of Late- Versus Early Treatment of Post-hemorrhagic Ventricular Dilation in Preterm Infants. Completed NCT00875758
42 Cerebrospinal Fluid Proteome in Hydrocephalus Completed NCT02016352
43 Novel Infusion Method for Describing CSF Dynamics Completed NCT01319136
44 A Study Comparing Shunt Placement Versus Endoscopic Third Ventriculostomy in the Treatment of Hydrocephalus Completed NCT01115270
45 A Randomized Trial of High and Low Pressure Level Settings on a Programmable Ventriculoperitoneal Shunt Valve for Idiopathic Normal Pressure Hydrocephalus. Results of the Dutch Evaluation Program Strata Shunt (DEPSS) Trial Completed NCT01570257
46 Prognostic Value of Transforming Growth Factor-Beta 1 in Normal Pressure Hydrocephalus Completed NCT00600795
47 Evaluation of a Computerised Neuropsychological Test Battery for Idiopathic Normal Pressure Hydrocephalus (INPH) Completed NCT01265251
48 Effects of Physical Training in Shunt-operated Patients With Idiopathic Normal Pressure Hydrocephalus Completed NCT02659111
49 Are Intracranial Pressure Waves Measurable Through Lumbar Puncture? Completed NCT01374048
50 Efficacy of Shunt Surgery in Normal Pressure Hydrocephalus: a Randomized Cross-over Study Completed NCT01798641

Search 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:

40
Eye, Brain, Pituitary, Cortex, Heart, Liver

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 PMID Year
1
The genetic landscape of familial congenital hydrocephalus. 57 6
28556411 2017
2
Mutation in MPDZ causes severe congenital hydrocephalus. 57 6
23240096 2013
3
Evaluation of the conformational equilibrium of reduced hen egg lysozyme by antibodies to the native form. 61
19944060 2010

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 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPDZ NM_003829.4(MPDZ):c.755G>A (p.Trp252Ter) SNV Pathogenic 211521 rs797045707 GRCh37: 9:13221492-13221492
GRCh38: 9:13221493-13221493
2 MPDZ NM_001378778.1(MPDZ):c.3274G>T (p.Glu1092Ter) SNV Pathogenic 1029760 GRCh37: 9:13162775-13162775
GRCh38: 9:13162776-13162776
3 MPDZ NM_001378778.1(MPDZ):c.3360-2A>G SNV Pathogenic 1029761 GRCh37: 9:13158111-13158111
GRCh38: 9:13158112-13158112
4 MPDZ NM_001378778.1(MPDZ):c.5305G>T (p.Gly1769Ter) SNV Pathogenic 982061 GRCh37: 9:13119575-13119575
GRCh38: 9:13119576-13119576
5 MPDZ NM_003829.4(MPDZ):c.628C>T (p.Gln210Ter) SNV Pathogenic 50213 rs372127610 GRCh37: 9:13222351-13222351
GRCh38: 9:13222352-13222352
6 MPDZ NM_001378778.1(MPDZ):c.4003+1G>A SNV Pathogenic 929453 GRCh37: 9:13139985-13139985
GRCh38: 9:13139986-13139986
7 MPDZ NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs) Duplication Pathogenic 929452 GRCh37: 9:13176180-13176181
GRCh38: 9:13176181-13176182
8 MPDZ NM_003829.4(MPDZ):c.3211C>T (p.Arg1071Ter) SNV Pathogenic 548149 rs376078512 GRCh37: 9:13168408-13168408
GRCh38: 9:13168409-13168409
9 MPDZ NM_003829.4(MPDZ):c.2230C>T (p.Arg744Ter) SNV Pathogenic 548148 rs922703465 GRCh37: 9:13188917-13188917
GRCh38: 9:13188918-13188918
10 MPDZ NM_003829.4(MPDZ):c.4469del (p.Gln1490fs) Deletion Pathogenic 548147 rs781251438 GRCh37: 9:13126767-13126767
GRCh38: 9:13126768-13126768
11 MPDZ NM_001378778.1(MPDZ):c.6094A>T (p.Lys2032Ter) SNV Pathogenic 998455 GRCh37: 9:13107083-13107083
GRCh38: 9:13107084-13107084
12 MPDZ NM_001378778.1(MPDZ):c.3359+1G>A SNV Pathogenic 1034032 GRCh37: 9:13162689-13162689
GRCh38: 9:13162690-13162690
13 MPDZ NM_001378778.1(MPDZ):c.1474+2T>C SNV Pathogenic 1034030 GRCh37: 9:13205913-13205913
GRCh38: 9:13205914-13205914
14 MPDZ NM_001378778.1(MPDZ):c.1201G>T (p.Glu401Ter) SNV Pathogenic 1034029 GRCh37: 9:13217179-13217179
GRCh38: 9:13217180-13217180
15 ACADM NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) SNV Likely pathogenic 203539 rs770273135 GRCh37: 1:76211589-76211589
GRCh38: 1:75745904-75745904
16 MPDZ NM_003829.4(MPDZ):c.4906C>T (p.Arg1636Ter) SNV Likely pathogenic 208595 rs797045095 GRCh37: 9:13123199-13123199
GRCh38: 9:13123200-13123200
17 MPDZ NM_001378778.1(MPDZ):c.1502dup (p.Leu501fs) Duplication Likely pathogenic 993002 GRCh37: 9:13205078-13205079
GRCh38: 9:13205079-13205080
18 MPDZ NM_003829.5(MPDZ):c.4003A>T (p.Lys1335Ter) SNV Likely pathogenic 804414 rs1587149916 GRCh37: 9:13139986-13139986
GRCh38: 9:13139987-13139987
19 MPDZ NM_003829.5(MPDZ):c.5920_5926dup (p.Tyr1976fs) Duplication Likely pathogenic 829821 rs1586841546 GRCh37: 9:13108987-13108988
GRCh38: 9:13108988-13108989
20 MPDZ NM_003829.5(MPDZ):c.1972C>T (p.His658Tyr) SNV Likely pathogenic 829930 rs368581522 GRCh37: 9:13190295-13190295
GRCh38: 9:13190296-13190296
21 MPDZ NM_001378778.1(MPDZ):c.3253A>T (p.Lys1085Ter) SNV Likely pathogenic 974829 GRCh37: 9:13168366-13168366
GRCh38: 9:13168367-13168367
22 MPDZ NM_003829.4(MPDZ):c.5278G>A (p.Ala1760Thr) SNV Conflicting interpretations of pathogenicity 548150 rs1554644827 GRCh37: 9:13119602-13119602
GRCh38: 9:13119603-13119603
23 MPDZ NM_001378778.1(MPDZ):c.2234T>C (p.Leu745Pro) SNV Uncertain significance 1029757 GRCh37: 9:13188913-13188913
GRCh38: 9:13188914-13188914
24 MPDZ NM_001378778.1(MPDZ):c.3055G>A (p.Gly1019Arg) SNV Uncertain significance 1029758 GRCh37: 9:13175751-13175751
GRCh38: 9:13175752-13175752
25 MPDZ NM_001378778.1(MPDZ):c.3131G>A (p.Arg1044Gln) SNV Uncertain significance 1029759 GRCh37: 9:13168488-13168488
GRCh38: 9:13168489-13168489
26 MPDZ NM_001378778.1(MPDZ):c.2264A>G (p.Asn755Ser) SNV Uncertain significance 1034031 GRCh37: 9:13188883-13188883
GRCh38: 9:13188884-13188884
27 MPDZ NM_001378778.1(MPDZ):c.5425G>C (p.Gly1809Arg) SNV Uncertain significance 1034033 GRCh37: 9:13115288-13115288
GRCh38: 9:13115289-13115289
28 MPDZ NM_001261406.1(MPDZ):c.2401G>T (p.Asp801Tyr) SNV Uncertain significance 522684 rs758473798 GRCh37: 9:13186349-13186349
GRCh38: 9:13186350-13186350
29 MPDZ NM_003829.4(MPDZ):c.3741+6C>T SNV Uncertain significance 638490 rs368808895 GRCh37: 9:13147541-13147541
GRCh38: 9:13147542-13147542
30 MPDZ NM_003829.4(MPDZ):c.5480A>C (p.Glu1827Ala) SNV Uncertain significance 638491 rs199730853 GRCh37: 9:13113044-13113044
GRCh38: 9:13113045-13113045
31 MPDZ NM_003829.5(MPDZ):c.2344G>A (p.Gly782Arg) SNV Uncertain significance 726047 rs192227753 GRCh37: 9:13188803-13188803
GRCh38: 9:13188804-13188804
32 MPDZ NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) SNV Uncertain significance 992337 GRCh37: 9:13223709-13223709
GRCh38: 9:13223710-13223710
33 MPDZ NM_001378778.1(MPDZ):c.5379G>A (p.Lys1793=) SNV Uncertain significance 1029762 GRCh37: 9:13119501-13119501
GRCh38: 9:13119502-13119502
34 MPDZ NM_001378778.1(MPDZ):c.5507C>G (p.Ser1836Cys) SNV Uncertain significance 1029763 GRCh37: 9:13113980-13113980
GRCh38: 9:13113981-13113981
35 MPDZ NM_001378778.1(MPDZ):c.5648G>T (p.Ser1883Ile) SNV Uncertain significance 1029764 GRCh37: 9:13112099-13112099
GRCh38: 9:13112100-13112100
36 MPDZ NM_003829.5(MPDZ):c.93C>G (p.Asp31Glu) SNV Uncertain significance 736778 rs148433683 GRCh37: 9:13247724-13247724
GRCh38: 9:13247725-13247725
37 MPDZ NM_001378778.1(MPDZ):c.893G>C (p.Ser298Thr) SNV Uncertain significance 1005147 GRCh37: 9:13219751-13219751
GRCh38: 9:13219752-13219752
38 MPDZ NM_003829.4(MPDZ):c.1041G>C (p.Leu347Phe) SNV Uncertain significance 211506 rs34911705 GRCh37: 9:13219603-13219603
GRCh38: 9:13219604-13219604

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....