CMCS
MCID: CHD004
MIFTS: 47

Chudley-Mccullough Syndrome (CMCS)

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

Aliases & Classifications for Chudley-Mccullough Syndrome

MalaCards integrated aliases for Chudley-Mccullough Syndrome:

Name: Chudley-Mccullough Syndrome 57 20 58 72 29 13 6 39 70
Deafness, Sensorineural, with Partial Agenesis of the Corpus Callosum and Arachnoid Cysts 57 20
Arachnoid Cysts 44 70
Cmcs 57 72
Deafness, Bilateral Sensorineural, and Hydrocephalus Due to Foramen of Monro Obstruction 20
Sensorineural Deafness with Partial Agenesis of the Corpus Callosum and Arachnoid Cysts 72
Deafness, Autosomal Recessive 82, Formerly; Dfnb82, Formerly 57
Deafness, Autosomal Recessive 82, Formerly 57
Deafness Autosomal Recessive 82 72
Dfnb82, Formerly 57
Dfnb82 72

Characteristics:

Orphanet epidemiological data:

58
chudley-mccullough syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years


HPO:

31
chudley-mccullough syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 604213
UMLS via Orphanet 71 C1858695
Orphanet 58 ORPHA314597
MedGen 41 C1858695
UMLS 70 C0078981 C1858695

Summaries for Chudley-Mccullough Syndrome

OMIM® : 57 Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by Alrashdi et al., 2011). (604213) (Updated 20-May-2021)

MalaCards based summary : Chudley-Mccullough Syndrome, also known as deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts, is related to spinal intradural arachnoid cysts and intracranial cysts. An important gene associated with Chudley-Mccullough Syndrome is GPSM2 (G Protein Signaling Modulator 2). The drugs Petrolatum and Hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and pituitary, and related phenotypes are hydrocephalus and intellectual disability, mild

UniProtKB/Swiss-Prot : 72 Chudley-McCullough syndrome: An autosomal recessive neurologic disorder characterized by early- onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal.

Related Diseases for Chudley-Mccullough Syndrome

Diseases related to Chudley-Mccullough Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 207)
# Related Disease Score Top Affiliating Genes
1 spinal intradural arachnoid cysts 11.7
2 intracranial cysts 11.6
3 pachygyria with mental retardation, seizures, and arachnoid cysts 11.4
4 arachnoid cysts, intracranial 11.4
5 melanosis, neurocutaneous 11.2
6 craniopharyngioma 11.1
7 encephalocraniocutaneous lipomatosis 11.1
8 sensorineural hearing loss 10.7
9 branchiootic syndrome 1 10.6
10 intracranial hypertension 10.6
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
12 hydrocephalus 10.6
13 corpus callosum, partial agenesis of, x-linked 10.5
14 autosomal recessive disease 10.5
15 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.5
16 polymicrogyria 10.5
17 syringomyelia, noncommunicating isolated 10.4
18 syringomyelia 10.4
19 colpocephaly 10.4
20 rare genetic deafness 10.4
21 obstructive hydrocephalus 10.4
22 headache 10.4
23 ataxia and polyneuropathy, adult-onset 10.4
24 precocious puberty 10.4
25 head injury 10.4
26 spinal arachnoiditis 10.3
27 arachnoiditis 10.3
28 cauda equina syndrome 10.3
29 papilledema 10.3
30 epilepsy 10.3
31 seizure disorder 10.3
32 distichiasis 10.2
33 chiari malformation 10.2
34 spasticity 10.2
35 corpus callosum, agenesis of 10.2
36 alacrima, achalasia, and mental retardation syndrome 10.2
37 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.2
38 cortical dysplasia, complex, with other brain malformations 10 10.2
39 nonsyndromic hearing loss 10.2
40 lymphedema-distichiasis syndrome 10.2
41 neural tube defects 10.2
42 hereditary lymphedema i 10.2
43 brain compression 10.2
44 normal pressure hydrocephalus 10.2
45 neurilemmoma 10.2
46 radiculopathy 10.2
47 spastic paraparesis 10.2
48 dandy-walker syndrome 10.1
49 hydrocephalus, congenital, 1 10.1
50 aphasia 10.1

Graphical network of the top 20 diseases related to Chudley-Mccullough Syndrome:



Diseases related to Chudley-Mccullough Syndrome

Symptoms & Phenotypes for Chudley-Mccullough Syndrome

Human phenotypes related to Chudley-Mccullough Syndrome:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 very rare (1%) HP:0000238
2 intellectual disability, mild 31 very rare (1%) HP:0001256
3 motor delay 31 very rare (1%) HP:0001270
4 ventriculomegaly 31 very rare (1%) HP:0002119
5 polymicrogyria 31 very rare (1%) HP:0002126
6 partial agenesis of the corpus callosum 31 very rare (1%) HP:0001338
7 gray matter heterotopia 31 very rare (1%) HP:0002282
8 severe sensorineural hearing impairment 31 very rare (1%) HP:0008625
9 arachnoid cyst 31 very rare (1%) HP:0100702
10 cerebellar dysplasia 31 very rare (1%) HP:0007033
11 seizure 31 very rare (1%) HP:0001250
12 cerebellar hypoplasia 31 HP:0001321
13 hypoplasia of the corpus callosum 31 HP:0002079
14 dysplastic corpus callosum 31 HP:0006989
15 large foramen magnum 31 HP:0002700

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
polymicrogyria
partial agenesis of the corpus callosum
dysplastic corpus callosum
seizures (uncommon)
arachnoid cysts
more
Head And Neck Ears:
hearing loss, sensorineural, severe-to-profound

Head And Neck Head:
hydrocephalus (variable)

Clinical features from OMIM®:

604213 (Updated 20-May-2021)

Drugs & Therapeutics for Chudley-Mccullough Syndrome

Drugs for Chudley-Mccullough Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 102)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Petrolatum Approved, Investigational Phase 4 8009-03-8
2
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
3
Dimenhydrinate Approved Phase 4 523-87-5 441281
4 Carboxymethylcellulose Sodium Phase 4
5 Pharmaceutical Solutions Phase 4
6
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
7
Etoposide Approved Phase 3 33419-42-0 36462
8
Bleomycin Approved, Investigational Phase 3 11056-06-7 5360373
9
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
10
Nevirapine Approved Phase 3 129618-40-2 4463
11
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
12
rituximab Approved Phase 3 174722-31-7 10201696
13
inotuzumab ozogamicin Approved, Investigational Phase 3 635715-01-4
14
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
15
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
16
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
17
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
18
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
19
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
20
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
21
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
22
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
23
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
24
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
25
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
26
Tenofovir Experimental, Investigational Phase 3 147127-20-6 464205
27
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
28 Reverse Transcriptase Inhibitors Phase 3
29 Etoposide phosphate Phase 3
30 Efavirenz, Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 3
31 Albumin-Bound Paclitaxel Phase 3
32 Antibiotics, Antitubercular Phase 3
33 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 3
34 Anti-HIV Agents Phase 3
35 Anti-Retroviral Agents Phase 3
36 HIV Integrase Inhibitors Phase 3
37 Anti-Bacterial Agents Phase 3
38 Integrase Inhibitors Phase 3
39 Cytochrome P-450 Enzyme Inhibitors Phase 3
40 Adjuvants, Immunologic Phase 2, Phase 3
41 Viscosupplements Phase 2, Phase 3
42 Protective Agents Phase 2, Phase 3
43 Antineoplastic Agents, Immunological Phase 3
44 Antirheumatic Agents Phase 3
45 Immunologic Factors Phase 3
46 Gastrointestinal Agents Phase 3
47 Tubulin Modulators Phase 3
48 Antimitotic Agents Phase 3
49 Immunosuppressive Agents Phase 3
50 Alkylating Agents Phase 3

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Clinical Assessment of Physiotulle Dressing Compared to Urgotul Dressing in the Treatment of Leg Ulcer Completed NCT01238419 Phase 4
2 Use of FlexHD as a Post-Trapeziectomy Spacer in Patients Treated for Thumb Basal Joint Arthritis Completed NCT01998594 Phase 4
3 The Role of Seprafilm Bioresorbable Slurry in the Prevention of Intrauterine Synechiae in Patients Undergoing Hysteroscopic Myomectomy Terminated NCT01632202 Phase 4
4 A Randomized Comparison of Three Regimens of Chemotherapy With Compatible Antiretroviral Therapy for Treatment of Advanced AIDS-KS in Resource-Limited Settings Completed NCT01435018 Phase 3 Etoposide (ET);Bleomycin and Vincristine (BV);Paclitaxel (PTX);Co-formulated Efavirenz/Emtricitabine/Tenofovir Disoproxil Fumarate (EFV/FTC/TDF)
5 A Double-Blind, Randomized, Placebo-Controlled Study of the Efficacy and Safety of EUFLEXXA™ for Treatment of Osteoarthritis (OA) of the First Carpometacarpal (CMC) Joint Completed NCT00423371 Phase 2, Phase 3
6 An Open-label, Randomized, Phase 3 Study Of Inotuzumab Ozogamicin (Cmc-544) Administered In Combination With Rituximab Compared To A Defined Investigator's Choice Therapy In Subjects With Relapsed Or Refractory, Cd22- Positive, Follicular B-cell Non Hodgkin's Lymphoma Terminated NCT00562965 Phase 3 inotuzumab ozogamicin;rituximab;rituximab;cyclophosphamide;vincristine;prednisone/prednisolone;mitoxantrone;fludarabine;dexamethasone
7 Treatment of Relapsed or Refractory Acute Lymphoblastic Leukemia (ALL) With CMC-544 (Inotuzumab Ozogamycin), With or Without Later Addition of Rituximab Completed NCT01134575 Phase 2 CMC-544 (Inotuzumab Ozogamycin);Rituximab
8 A Phase 2 Study Of Inotuzumab Ozogamicin (Cmc-544) In Subjects With Indolent Non-hodgkin's Lymphoma (Nhl) That Is Refractory To Or Has Relapsed After Rituximab And Chemotherapy Or Radioimmunotherapy Completed NCT00868608 Phase 2 Inotuzumab Ozogamicin (CMC-544)
9 A Phase 1/2 Study Of Cmc-544 Administered In Combination With Rituximab In Subjects With Follicular Or Diffuse Large B-cell Non-hodgkin's Lymphoma Completed NCT00299494 Phase 1, Phase 2 inotuzumab ozogamicin;inotuzumab ozogamicin;inotuzumab ozogamicin;Rituximab
10 Phase I/II Study of the Combination of Inotuzumab Ozogamycin (CMC-544) With Low-Intensity Chemotherapy in Patients With Acute Lymphoblastic Leukemia (ALL) Recruiting NCT01371630 Phase 1, Phase 2 Cyclophosphamide;Cytarabine;Mercaptopurine;Methotrexate;Prednisone;Vincristine
11 Anti-CD22 Immunoconjugate Inotuzumab Ozogamicin (CMC-544) Added to Fludarabine, Bendamustine and Rituximab and Allogeneic Transplantation for CD22 Positive-Lymphoid Malignancies Active, not recruiting NCT01664910 Phase 1, Phase 2 Bendamustine Hydrochloride;Fludarabine Phosphate;Methotrexate;Tacrolimus
12 A Phase 1 Study Of Cmc-544 Administered In Combination With Rituximab In Subjects With B-cell Non-hodgkin's Lymphoma Completed NCT00724971 Phase 1 Inotuzumab Ozogamicin (CMC-544);Rituximab (Rituxan)
13 A Phase 1 Study Of CMC-544 Administered As A Single Agent In Subjects With B-Cell Non-Hodgkin's Lymphoma Completed NCT00717925 Phase 1 Inotuzumab Ozogamicin (CMC-544)
14 A Phase I Study of Inotuzumab Ozogamicin (CMC-544) in Combination With Temsirolimus (CCI-779) in Patients With Relapsed or Refractory CD22-positive B-cell Non Hodgkin's Lymphomas Completed NCT01535989 Phase 1 Inotuzumab Ozogamicin;Temsirolimus
15 A Phase 1 Study Of Cmc-544 Administered As A Single Agent In Subjects With B-cell Non- Hodgkin's Lymphoma Completed NCT00073749 Phase 1 Inotuzumab ozogamicin [CMC-544]
16 Open Label Dose Escalation Trial of an Adaptive Natural Killer (NK) Cell Infusion (FATE-NK100) With Subcutaneous IL-2 in Adults With Refractory or Relapsed Acute Myelogenous Leukemia (AML) Completed NCT03081780 Phase 1
17 A Single Dose Clinical Trial to Study the Safety of ART-I02 in Patients With Arthritis Active, not recruiting NCT02727764 Phase 1
18 The Effects of Hand Orthosis in Thumb Osteoarthritis Unknown status NCT03327480
19 Predictive Value of Circulating Melanoma Cells (CMCs) in Metastatic Melanoma (MM) Patients Treated With Selective Inhibitors of BRAF Unknown status NCT01878396 Anti-B-RAF
20 Clinical Evaluation of the Articulinx InterCarpoMetacarpal Cushion (ICMC) for Osteoarthritis of the First CarpoMetacarpal Joint: A New Study of the ICMC in a Clinical Setting Unknown status NCT01961570
21 Clinical Evaluation of the Articulinx InterCarpoMetacarpal Cushion (ICMC) for Osteoarthritis of the First Metacarpal Joint Unknown status NCT01973803
22 Chung-ju Metabolic Disease Cohort (CMC) Study Unknown status NCT00707668
23 The Efficacy of Topical Sesame Oil in Orabase Versus Topical Triamcinolone in Orabase on Oral Lichen Planus and Salivary Level of Oxidative Stress Biomarker, Malondialdehyde [MDA] : Randomized Clinical Trial (RCT) Unknown status NCT03738176 Early Phase 1 Sesame Oil;triamcinolone in orabase
24 Suture Fixation System Versus Tendonous Reconstruction in Thumb Carpometacarpal Arthroplasty: a Randomized Controlled Trial Completed NCT01121874
25 Functional Research of Emulsifiers in Humans Completed NCT03440229
26 CARDIOMETABOLIC CARE-TEAM INTEGRATION IN PRIMARY CARE IMPROVES OUTCOMES IN DIABETES: A PRAGMATIC, CASE-CONTROLLED STUDY Completed NCT03561714
27 Evaluation of Integrating Selected MIYCN Interventions in Existing Polio Eradication Platform of Project Concern International (PCI) in UP Completed NCT03368885
28 Effectiveness of a Neoprene CMC Joint Orthosis for Pain, Function, and Patient Satisfaction Completed NCT03736252
29 May Occupational Therapy Delay the Need for Surgery in Carpometacarpal Osteoarthritis: A Randomised Controlled Trial. Completed NCT01794754
30 Conservative Management of DeQuervain's Tendinopathy With an Orthopaedic Manual Therapy Approach Emphasizing First CMC Manipulation: A Retrospective Case Series Completed NCT04164303
31 A Prospective Study to Evaluate the Safety and Effectiveness of the Cartiva® Synthetic Cartilage Implant for CMC in the Treatment of First Carpometacarpal Joint Osteoarthritis Completed NCT02391506
32 Allograft Meniscal Arthroplasty for the Treatment of Basal Joint Arthritis of the Thumb Completed NCT01542515
33 An Integrated Telemedicine-Home Visitation Program to Increase Outcomes for Children With Medical Complexity: A Quality Improvement (QI) Pilot Trial Completed NCT03590509
34 Clinical Effects of a Proprioceptive Thumb Exercise for Individuals With Carpometacarpal Joint Osteoarthritis: A Prospective Quasi-experimental Study Completed NCT04777526
35 Evaluation of the Inflammatory Response and Long-term Calcification in Post-operated Aortic Valve Replacement Patients. Completed NCT04557345
36 KRANIOPHARYNGEOM Registry 2019 Multicenter Registry for Patients With Childhood-onset Craniopharyngioma, Xanthogranuloma, Cysts of Rathke's Pouch, Meningioma, Pituitary Adenoma, Arachnoid Cysts Recruiting NCT04158284
37 Thumb Basal Joint (CMC I) Arthritis - Preoperative Anxiety/Depression, Outcome Instruments, Carpal Kinematics and Cost-utility Recruiting NCT04826380
38 LRTI vs Internal Brace for CMC OA: A Prospective Randomized Trial Recruiting NCT03971188
39 Randomized Single Blinded First CMC Osteoarthritis Treatment: Therapy and Bracing Alone vs. Intra-Articular Corticosteroid Injection vs Intra-Articular Leukocyte Depleted Platelet Rich Plasma Recruiting NCT03196310 Platelet Concentrate;Corticosteroid injection
40 Population at Risk of Malignant Hyperthermia: Ambispective Cohort. Recruiting NCT04287556
41 A Comparative Evaluation of a Marine Polysaccharide Dressing and a Carboxymethylcellulose Dressing on Subjects With Lower Extremity Venous Ulcers Recruiting NCT03903692
42 Interagency Collaboration To Improve Home Care of Children With Medical Complexity. Recruiting NCT03978468
43 A Prospective Study to Evaluate the Safety and Effectiveness of the Cartiva® Synthetic Cartilage Implant for CMC in the Treatment of First Carpometacarpal Joint Osteoarthritis as Compared to a Ligament Reconstruction Tendon Interposition (LRTI) Comparator Active, not recruiting NCT03247439
44 Strengthening of the First Dorsal Interosseous for Thumb Carpometacarpal Osteoarthritis Enrolling by invitation NCT03177577
45 Pilot Study of a Novel Splint Treatment for Thumb CMC Joint Arthritis: a Comparison of Oval-8 Splinting Versus Standardized Treatment With Tee Pee or Forearm Based Thumb Spica Splinting Withdrawn NCT02266095

Search NIH Clinical Center for Chudley-Mccullough Syndrome

Cochrane evidence based reviews: arachnoid cysts

Genetic Tests for Chudley-Mccullough Syndrome

Genetic tests related to Chudley-Mccullough Syndrome:

# Genetic test Affiliating Genes
1 Chudley-Mccullough Syndrome 29 GPSM2

Anatomical Context for Chudley-Mccullough Syndrome

MalaCards organs/tissues related to Chudley-Mccullough Syndrome:

40
Brain, Heart, Pituitary, Bone, Kidney, Colon, Bone Marrow

Publications for Chudley-Mccullough Syndrome

Articles related to Chudley-Mccullough Syndrome:

(show top 50) (show all 994)
# Title Authors PMID Year
1
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. 6 57 61
22578326 2012
2
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. 57 6
21348867 2012
3
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. 6 57
20602914 2010
4
Chudley-McCullough syndrome: another report and a brief review of the literature. 61 57
21127420 2011
5
Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome. 57 61
16642503 2006
6
Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities. 61 57
14679590 2004
7
Chudley-McCullough syndrome: expanded phenotype and review of the literature. 61 57
12707963 2003
8
Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities. 57 61
10607951 2000
9
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 57
19888295 2010
10
Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters. 57
10449658 1999
11
Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. 57
9024571 1997
12
Synthesis of carboxymethyl chitosan-strontium complex and its therapeutic effects on relieving osteoarthritis. 61
33766356 2021
13
Microfluidic-based synthesized carboxymethyl chitosan nanoparticles containing metformin for diabetes therapy: In vitro and in vivo assessments. 61
33766375 2021
14
Insecticidal efficacy and mechanism of nanoparticles synthesized from chitosan and carboxymethyl chitosan against Solenopsis invicta (Hymenoptera: Formicidae). 61
33712174 2021
15
Antibacterial activity of nitric oxide-releasing carboxymethylcellulose against periodontal pathogens. 61
32654391 2021
16
Carboxymethylated chitosan alleviated oxidative stress injury in retinal ganglion cells via IncRNA-THOR/IGF2BP1 axis. 61
33811613 2021
17
Improved stabilization of coix seed oil in a nanocage-coating framework based on gliadin-carboxymethyl chitosan-Ca2. 61
33541626 2021
18
Study on the treatment of oily sludge in oil fields with lipopeptide/sophorolipid complex bio-surfactant. 61
33524909 2021
19
Carboxymethyl chitosan-pullulan edible films enriched with galangal essential oil: Characterization and application in mango preservation. 61
33483073 2021
20
Impact of chronic medical conditions on mortality in geriatric trauma, 10-year analysis of a single centre in Turkey. 61
33719848 2021
21
A novel self-assembled micelles based on stearic acid modified schizophyllan for efficient delivery of paclitaxel. 61
33360623 2021
22
pH-Sensitive Alginate/Carboxymethyl Chitosan/Aminated Chitosan Microcapsules for Efficient Encapsulation and Delivery of Diclofenac Sodium. 61
33807967 2021
23
Convergence-improved congruent matching cells (CMC) method for firing pin impression comparison. 61
33227148 2021
24
Nose-to-brain delivery: A comparative study between carboxymethyl chitosan based conjugates of dopamine. 61
33675929 2021
25
Alginate, gelatin, and carboxymethyl cellulose coated nonwoven fabrics containing antimicrobial AgNPs for skin wound healing in rats. 61
33484799 2021
26
High-mechanical strength carboxymethyl chitosan-based hydrogel film for antibacterial wound dressing. 61
33483076 2021
27
Photo-induced programmable degradation of carboxymethyl chitosan-based hydrogels. 61
33483085 2021
28
Adhesion GPCR Latrophilin-2 Specifies Cardiac Lineage Commitment through CDK5, Src, and P38MAPK. 61
33798451 2021
29
Significance of a social mobilization intervention for engaging communities in polio vaccination campaigns: Evidence from CORE Group Polio Project, Uttar Pradesh, India. 61
33763225 2021
30
The Perceived Impact and Usability of a Care Management and Coordination System in Delivering Services to Vulnerable Populations: Mixed Methods Study. 61
33709928 2021
31
Machine-Learning-Based Atomistic Model Analysis on High-Temperature Compressive Creep Properties of Amorphous Silicon Carbide. 61
33805878 2021
32
Deep Immune Profiling of Whole Blood to Identify Early Immune Signatures that Correlate to Patient Outcome after Major Trauma. 61
33755643 2021
33
Sonochemical degradation of surfactants with different charge types: Effect of the critical micelle concentration in the interfacial region of the cavity. 61
33053489 2021
34
Establishment of the technology of cambial meristematic cells (CMCs) culture from shoots and high expression of FmPHV (PHAVOLUTA) functions in identification and differentiation of CMCs and promoting the shoot regeneration by hypocotyl in Fraxinus mandshurica. 61
33548802 2021
35
High Intrinsic Expression of P-glycoprotein and Breast Cancer Resistance Protein in Canine Mammary Carcinomas Regardless of Immunophenotype and Outcome. 61
33801360 2021
36
Stimulus-Responsive Microfluidic Interface Enables Efficient Enrichment and Cytogenetic Profiling of Circulating Myeloma Cells. 61
33755428 2021
37
Bifunctional scaffolds of hydroxyapatite/poly(dopamine)/carboxymethyl chitosan with osteogenesis and anti-osteosarcoma effect. 61
33527931 2021
38
An Immunohistochemical Study of the PTEN/AKT Pathway Involvement in Canine and Feline Mammary Tumors. 61
33535663 2021
39
Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations. 61
33016209 2021
40
Growth and Differentiation of Circulating Stem Cells After Extensive Ex Vivo Expansion. 61
33625723 2021
41
Regioisomer Differentiation of Ring-Substituted Chloromethcathinones and Bromomethcathinones Using Gas Chromatography/Electron Ionization-Triple Quadrupole Energy-Resolved Mass Spectrometry. 61
33284010 2021
42
Control of colonic motility using electrical stimulation to modulate enteric neural activity. 61
33624530 2021
43
Superparamagnetic Silicon Carbonitride Ceramic Fibers Through In Situ Generation of Iron Silicide Nanoparticles During Pyrolysis of an Iron-Modified Polysilazane. 61
33560117 2021
44
Echocardiography-guided percutaneous left ventricular intracavitary injection as a cell delivery approach in infarcted mice. 61
33547546 2021
45
Health Care Utilization, Transition Readiness, and Quality of Life: A Latent Class Analysis. 61
33236079 2021
46
Motor patterns in the proximal and distal mouse colon which underlie formation and propulsion of feces. 61
33586835 2021
47
A feasibility study of circulating melanoma cells in the perioperative context of hyperthermic isolated limb perfusion (HILP) in 20 patients. 61
33487077 2021
48
Harnessing pH-Sensitive Polycation Vehicles for the Efficient siRNA Delivery. 61
33406826 2021
49
High-Temperature Properties and Applications of Si-Based Polymer-Derived Ceramics: A Review. 61
33572765 2021
50
Perceived Versus Demonstrated Understanding of the Complex Medications of Medically Complex Children. 61
33424502 2021

Variations for Chudley-Mccullough Syndrome

ClinVar genetic disease variations for Chudley-Mccullough Syndrome:

6 (show top 50) (show all 71)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPSM2 NM_013296.5(GPSM2):c.1684C>T (p.Gln562Ter) SNV Pathogenic 30781 rs387907010 GRCh37: 1:109466705-109466705
GRCh38: 1:108924083-108924083
2 GPSM2 GPSM2, 1-BP DEL, 1473G Deletion Pathogenic 35491 GRCh37:
GRCh38:
3 GPSM2 NM_013296.5(GPSM2):c.742del (p.Gly249fs) Deletion Pathogenic 35492 rs528069912 GRCh37: 1:109441560-109441560
GRCh38: 1:108898938-108898938
4 GPSM2 NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) SNV Pathogenic 35493 rs145191476 GRCh37: 1:109466682-109466682
GRCh38: 1:108924060-108924060
5 GPSM2 NM_013296.5(GPSM2):c.1062+1G>T SNV Pathogenic 35494 rs777695770 GRCh37: 1:109445857-109445857
GRCh38: 1:108903235-108903235
6 GPSM2 NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs) Deletion Pathogenic 523009 rs1553216524 GRCh37: 1:109465142-109465149
GRCh38: 1:108922520-108922527
7 GPSM2 NM_013296.5(GPSM2):c.1420C>T (p.Arg474Ter) SNV Pathogenic 1031776 GRCh37: 1:109461391-109461391
GRCh38: 1:108918769-108918769
8 GPSM2 NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) SNV Pathogenic 1823 rs267606854 GRCh37: 1:109440214-109440214
GRCh38: 1:108897592-108897592
9 GPSM2 NM_013296.5(GPSM2):c.858_859delinsGT (p.Tyr286_Ser287delinsTer) Indel Likely pathogenic 1064650 GRCh37: 1:109444472-109444473
GRCh38: 1:108901850-108901851
10 GPSM2 NM_013296.5(GPSM2):c.1501del (p.Ser501fs) Deletion Likely pathogenic 864860 GRCh37: 1:109465097-109465097
GRCh38: 1:108922475-108922475
11 GPSM2 NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg) SNV Conflicting interpretations of pathogenicity 45563 rs61754640 GRCh37: 1:109446750-109446750
GRCh38: 1:108904128-108904128
12 GPSM2 , CLCC1 NM_013296.5(GPSM2):c.*474T>C SNV Uncertain significance 875593 GRCh37: 1:109473036-109473036
GRCh38: 1:108930414-108930414
13 GPSM2 NM_013296.5(GPSM2):c.-453C>T SNV Uncertain significance 876503 GRCh37: 1:109419646-109419646
GRCh38: 1:108877024-108877024
14 GPSM2 NM_013296.5(GPSM2):c.1034C>G (p.Ala345Gly) SNV Uncertain significance 505415 rs765450533 GRCh37: 1:109445828-109445828
GRCh38: 1:108903206-108903206
15 GPSM2 NM_013296.5(GPSM2):c.1216C>T (p.Arg406Trp) SNV Uncertain significance 506755 rs141562079 GRCh37: 1:109456983-109456983
GRCh38: 1:108914361-108914361
16 GPSM2 NM_013296.5(GPSM2):c.-316C>T SNV Uncertain significance 873607 GRCh37: 1:109419783-109419783
GRCh38: 1:108877161-108877161
17 GPSM2 NM_013296.5(GPSM2):c.-288C>A SNV Uncertain significance 873608 GRCh37: 1:109419811-109419811
GRCh38: 1:108877189-108877189
18 GPSM2 NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala) SNV Uncertain significance 873665 GRCh37: 1:109465070-109465070
GRCh38: 1:108922448-108922448
19 GPSM2 NM_013296.5(GPSM2):c.1665G>C (p.Gln555His) SNV Uncertain significance 873666 GRCh37: 1:109466686-109466686
GRCh38: 1:108924064-108924064
20 GPSM2 NM_013296.5(GPSM2):c.1694G>A (p.Ser565Asn) SNV Uncertain significance 873667 GRCh37: 1:109466715-109466715
GRCh38: 1:108924093-108924093
21 GPSM2 , CLCC1 NM_013296.5(GPSM2):c.1816-10A>G SNV Uncertain significance 873668 GRCh37: 1:109472313-109472313
GRCh38: 1:108929691-108929691
22 GPSM2 NM_013296.5(GPSM2):c.186C>T (p.Ser62=) SNV Uncertain significance 179453 rs199575734 GRCh37: 1:109439615-109439615
GRCh38: 1:108896993-108896993
23 GPSM2 NM_013296.5(GPSM2):c.274G>A (p.Ala92Thr) SNV Uncertain significance 874608 GRCh37: 1:109439703-109439703
GRCh38: 1:108897081-108897081
24 GPSM2 NM_013296.5(GPSM2):c.279-6T>C SNV Uncertain significance 874609 GRCh37: 1:109440108-109440108
GRCh38: 1:108897486-108897486
25 GPSM2 , CLCC1 NM_013296.5(GPSM2):c.2043G>A (p.Ser681=) SNV Uncertain significance 45566 rs140949805 GRCh37: 1:109472550-109472550
GRCh38: 1:108929928-108929928
26 GPSM2 , CLCC1 NM_013296.5(GPSM2):c.*7T>C SNV Uncertain significance 386577 rs193138520 GRCh37: 1:109472569-109472569
GRCh38: 1:108929947-108929947
27 GPSM2 , CLCC1 NM_013296.5(GPSM2):c.*208A>G SNV Uncertain significance 874649 GRCh37: 1:109472770-109472770
GRCh38: 1:108930148-108930148
28 GPSM2 , CLCC1 NM_013296.5(GPSM2):c.*351C>T SNV Uncertain significance 874650 GRCh37: 1:109472913-109472913
GRCh38: 1:108930291-108930291
29 GPSM2 NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr) SNV Uncertain significance 45569 rs397517232 GRCh37: 1:109440695-109440695
GRCh38: 1:108898073-108898073
30 GPSM2 NM_013296.5(GPSM2):c.597G>A (p.Ala199=) SNV Uncertain significance 875531 GRCh37: 1:109441303-109441303
GRCh38: 1:108898681-108898681
31 GPSM2 NM_013296.5(GPSM2):c.807A>G (p.Leu269=) SNV Uncertain significance 875532 GRCh37: 1:109444421-109444421
GRCh38: 1:108901799-108901799
32 GPSM2 NM_013296.5(GPSM2):c.833G>A (p.Arg278Gln) SNV Uncertain significance 730883 rs190381417 GRCh37: 1:109444447-109444447
GRCh38: 1:108901825-108901825
33 GPSM2 NM_013296.5(GPSM2):c.953+12G>A SNV Uncertain significance 875533 GRCh37: 1:109444579-109444579
GRCh38: 1:108901957-108901957
34 GPSM2 NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr) SNV Uncertain significance 587568 rs780911321 GRCh37: 1:109439553-109439553
GRCh38: 1:108896931-108896931
35 GPSM2 NM_013296.5(GPSM2):c.478G>C (p.Gly160Arg) SNV Uncertain significance 618146 rs1557862489 GRCh37: 1:109440644-109440644
GRCh38: 1:108898022-108898022
36 GPSM2 , CLCC1 NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp) SNV Uncertain significance 211100 rs189033496 GRCh37: 1:109472416-109472416
GRCh38: 1:108929794-108929794
37 GPSM2 NM_013296.5(GPSM2):c.-248-1G>A SNV Uncertain significance 632077 rs1051372133 GRCh37: 1:109427896-109427896
GRCh38: 1:108885274-108885274
38 GPSM2 NM_013296.5(GPSM2):c.-469C>G SNV Uncertain significance 291690 rs541910644 GRCh37: 1:109419630-109419630
GRCh38: 1:108877008-108877008
39 GPSM2 NM_013296.5(GPSM2):c.-245T>A SNV Uncertain significance 291699 rs886045024 GRCh37: 1:109427900-109427900
GRCh38: 1:108885278-108885278
40 GPSM2 , CLCC1 NM_013296.5(GPSM2):c.*322T>C SNV Uncertain significance 291713 rs886045027 GRCh37: 1:109472884-109472884
GRCh38: 1:108930262-108930262
41 GPSM2 , CLCC1 NM_013296.5(GPSM2):c.*467G>T SNV Uncertain significance 291716 rs548199963 GRCh37: 1:109473029-109473029
GRCh38: 1:108930407-108930407
42 GPSM2 NM_013296.5(GPSM2):c.683G>A (p.Arg228His) SNV Uncertain significance 291701 rs757559568 GRCh37: 1:109441502-109441502
GRCh38: 1:108898880-108898880
43 GPSM2 , CLCC1 NM_013296.5(GPSM2):c.*468T>G SNV Uncertain significance 291717 rs568302826 GRCh37: 1:109473030-109473030
GRCh38: 1:108930408-108930408
44 GPSM2 , CLCC1 NM_013296.5(GPSM2):c.1910G>A (p.Arg637Gln) SNV Uncertain significance 291709 rs765367400 GRCh37: 1:109472417-109472417
GRCh38: 1:108929795-108929795
45 GPSM2 NM_013296.5(GPSM2):c.1356G>A (p.Gly452=) SNV Uncertain significance 291705 rs377658968 GRCh37: 1:109461327-109461327
GRCh38: 1:108918705-108918705
46 GPSM2 NM_013296.5(GPSM2):c.-426G>A SNV Uncertain significance 291693 rs527368687 GRCh37: 1:109419673-109419673
GRCh38: 1:108877051-108877051
47 GPSM2 , CLCC1 NM_013296.5(GPSM2):c.2040A>G (p.Lys680=) SNV Uncertain significance 291710 rs142663817 GRCh37: 1:109472547-109472547
GRCh38: 1:108929925-108929925
48 GPSM2 NM_013296.5(GPSM2):c.1799T>A (p.Ile600Asn) SNV Uncertain significance 291708 rs779688224 GRCh37: 1:109466820-109466820
GRCh38: 1:108924198-108924198
49 GPSM2 NM_013296.5(GPSM2):c.-357C>T SNV Uncertain significance 291696 rs564045797 GRCh37: 1:109419742-109419742
GRCh38: 1:108877120-108877120
50 GPSM2 NM_013296.5(GPSM2):c.-441G>C SNV Uncertain significance 291691 rs886045022 GRCh37: 1:109419658-109419658
GRCh38: 1:108877036-108877036

Expression for Chudley-Mccullough Syndrome

Search GEO for disease gene expression data for Chudley-Mccullough Syndrome.

Pathways for Chudley-Mccullough Syndrome

GO Terms for Chudley-Mccullough Syndrome

Sources for Chudley-Mccullough Syndrome

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....