CMCS
MCID: CHD004
MIFTS: 44

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 53 59 74 29 13 6 40 72
Deafness, Sensorineural, with Partial Agenesis of the Corpus Callosum and Arachnoid Cysts 57 53
Arachnoid Cysts 44 72
Cmcs 57 74
Deafness, Bilateral Sensorineural, and Hydrocephalus Due to Foramen of Monro Obstruction 53
Sensorineural Deafness with Partial Agenesis of the Corpus Callosum and Arachnoid Cysts 74
Deafness, Autosomal Recessive 82, Formerly; Dfnb82, Formerly 57
Deafness, Autosomal Recessive 82, Formerly 57
Deafness Autosomal Recessive 82 74
Dfnb82, Formerly 57
Dfnb82 74

Characteristics:

Orphanet epidemiological data:

59
chudley-mccullough syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
chudley-mccullough syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 604213
UMLS via Orphanet 73 C1858695
Orphanet 59 ORPHA314597
MedGen 42 C1858695
UMLS 72 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)

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 tibia absent polydactyly arachnoid cyst. An important gene associated with Chudley-Mccullough Syndrome is GPSM2 (G Protein Signaling Modulator 2). The drugs Nicotine and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and heart, and related phenotypes are seizures and intellectual disability, mild

UniProtKB/Swiss-Prot : 74 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 494)
# Related Disease Score Top Affiliating Genes
1 spinal intradural arachnoid cysts 12.9
2 tibia absent polydactyly arachnoid cyst 12.8
3 arachnoid cysts, intracranial 12.7
4 pachygyria with mental retardation, seizures, and arachnoid cysts 12.7
5 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies 12.6
6 intracranial cysts 12.1
7 chronic mucocutaneous candidiasis 12.1
8 arachnoid cysts 12.0
9 familiar chronic mucocutaneous candidiasis 11.8
10 melanosis, neurocutaneous 11.8
11 craniopharyngioma 11.6
12 dandy-walker complex 11.6
13 capillary malformations, congenital 11.5
14 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.4
15 encephalocraniocutaneous lipomatosis 11.3
16 acrocallosal syndrome 11.3
17 immunodeficiency 31c 11.2
18 candidiasis, familial, 1 11.2
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.9
20 sensorineural hearing loss 10.9
21 branchiootic syndrome 1 10.8
22 hydrocephalus 10.8
23 congenital hydrocephalus 10.8
24 headache 10.7
25 intracranial hypertension 10.7
26 corpus callosum, partial agenesis of, x-linked 10.7
27 autosomal recessive disease 10.7
28 head injury 10.7
29 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.7
30 polymicrogyria 10.7
31 colpocephaly 10.7
32 ataxia and polyneuropathy, adult-onset 10.6
33 precocious puberty 10.6
34 hydrocephalus, congenital, 1 10.6
35 obstructive hydrocephalus 10.6
36 spinal arachnoiditis 10.5
37 arachnoiditis 10.5
38 spastic paraparesis 10.5
39 rare surgical neurologic disease 10.5
40 papilledema 10.4
41 cranial nerve palsy 10.4
42 radiculopathy 10.4
43 trigeminal neuralgia 10.4
44 cortical dysplasia, complex, with other brain malformations 7 10.4
45 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.4
46 corpus callosum, agenesis of 10.4
47 nonsyndromic deafness 10.4
48 cerebral malformation 10.4
49 osteoarthritis 10.4
50 hydrocephalus, normal-pressure 10.4

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:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 intellectual disability, mild 32 occasional (7.5%) HP:0001256
3 hydrocephalus 32 HP:0000238
4 ventriculomegaly 32 HP:0002119
5 cerebellar hypoplasia 32 HP:0001321
6 polymicrogyria 32 HP:0002126
7 partial agenesis of the corpus callosum 32 HP:0001338
8 hypoplasia of the corpus callosum 32 HP:0002079
9 cerebellar dysplasia 32 HP:0007033
10 severe sensorineural hearing impairment 32 HP:0008625
11 arachnoid cyst 32 HP:0100702
12 dysplastic corpus callosum 32 HP:0006989
13 large foramen magnum 32 HP:0002700
14 gray matter heterotopia 32 HP:0002282

Symptoms via clinical synopsis from OMIM:

57
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

Drugs & Therapeutics for Chudley-Mccullough Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved 54-11-5 942 89594
2 Dermatologic Agents
3 Immunologic Factors
4 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Circulating Tumor Cells and Melanoma: Comparing the EPISPOT (EPithelial ImmunoSPOT) and CellSearch Techniques Unknown status NCT01558349
2 Predictive Value of Circulating Melanoma Cells (CMCs) in Metastatic Melanoma (MM) Patients Treated With Selective Inhibitors of BRAF Unknown status NCT01878396 Anti-B-RAF
3 Synchronized Immunization NotifiCations Unknown status NCT02710318
4 Diffusion Weighted Magnetic Resonance Imaging for the Characterization of Solitary Pulmonary Lesions Completed NCT02482181
5 Establishing the Pathophysiology of Primary Spinal Syringomyelia Completed NCT00011245
6 Evaluation of Integrating Selected MIYCN Interventions in Existing Polio Eradication Platform of Project Concern International (PCI) in UP Completed NCT03368885
7 Assessment of Cerebrospinal Fluid Flow Related Disorders Using a Phase-contrast Magnetic Resonance Imaging Technique. Recruiting NCT03656016
8 Interagency Collaboration To Improve Home Care of Children With Medical Complexity. Not yet recruiting NCT03978468

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:

41
Brain, Bone, Heart, Colon, Skin, Liver, Bone Marrow

Publications for Chudley-Mccullough Syndrome

Articles related to Chudley-Mccullough Syndrome:

(show top 50) (show all 804)
# Title Authors PMID Year
1
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. 38 8 71
22578326 2012
2
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. 8 71
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. 8 71
20602914 2010
4
Chudley-McCullough syndrome: another report and a brief review of the literature. 38 8
21127420 2011
5
Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome. 38 8
16642503 2006
6
Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities. 38 8
14679590 2004
7
Chudley-McCullough syndrome: expanded phenotype and review of the literature. 38 8
12707963 2003
8
Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities. 38 8
10607951 2000
9
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 8
19888295 2010
10
Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters. 8
10449658 1999
11
Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. 8
9024571 1997
12
Co-delivery of sorafenib and VEGF-siRNA via pH-sensitive liposomes for the synergistic treatment of hepatocellular carcinoma. 38
30977418 2019
13
The "nano to micro" transition of hydrophobic curcumin crystals leading to in situ adjuvant depots for Au-liposome nanoparticle mediated enhanced photothermal therapy. 38
31309204 2019
14
Biocompatiable silk fibroin/carboxymethyl chitosan/strontium substituted hydroxyapatite/cellulose nanocrystal composite scaffolds for bone tissue engineering. 38
31247228 2019
15
DTAB micelle formation in ionic liquid/water mixtures is determined by ionic liquid cation structure. 38
31163389 2019
16
Antitumor evaluation of carboxymethyl chitosan based norcantharidin conjugates against gastric cancer as novel polymer therapeutics. 38
31158420 2019
17
Cr(VI) and Pb(II) capture on pH-responsive polyethyleneimine and chloroacetic acid functionalized chitosan microspheres. 38
31151535 2019
18
Simultaneous Determination of the Degree of Deacetylation and Substitution on Carboxymethyl Chitosan by Headspace Gas Chromatography. 38
31294561 2019
19
Comorbid Depressive Symptoms and Chronic Medical Conditions Among US Chinese Older Adults. 38
31403205 2019
20
Modified nano microfibrillated cellulose/carboxymethyl chitosan composite hydrogel with giant network structure and quick gelation formability. 38
31102677 2019
21
Selective targeting of tumor cells and tumor associated macrophages separately by twin-like core-shell nanoparticles for enhanced tumor-localized chemoimmunotherapy. 38
31305839 2019
22
Properties of Seawater Surfactants Associated with Primary Marine Aerosol Particles Produced by Bursting Bubbles at a Model Air-Sea Interface. 38
31329419 2019
23
Self-assembly of giant bottlebrush block copolymer surfactants from luminescent organic electronic materials. 38
31243420 2019
24
S100-EPISPOT: A New Tool to Detect Viable Circulating Melanoma Cells. 38
31330795 2019
25
Silk fibroin/carboxymethyl chitosan hydrogel with tunable biomechanical properties has application potential as cartilage scaffold. 38
31271796 2019
26
Cochlear implant in a subject affected by the Chudley-McCullough Syndrome. 38
30907716 2019
27
Chronic medical conditions based obesity phenotypes: A two-step cluster analysis of a representative sample of obese American adults. 38
31425954 2019
28
Lightness/pitch and elevation/pitch crossmodal correspondences are low-level sensory effects. 38
30697648 2019
29
Synthesis of Poly(N-vinylpyrrolidone)-Based Polymer Bottlebrushes by ATRPA and RAFT Polymerization: Toward Drug Delivery Application. 38
31234554 2019
30
Preparation and characterization of multilayer films composed of chitosan, sodium alginate and carboxymethyl chitosan-ZnO nanoparticles. 38
30722890 2019
31
[Preparation and evaluation of carboxymethyl chitosan/sodium alginate hydrogel for cartilage tissue engineering]. 38
31218857 2019
32
Synthesis and anti-metastasis activities of norcantharidin-conjugated carboxymethyl chitosan as a novel drug delivery system. 38
30926011 2019
33
Mesenchymal stem cells rejuvenate cardiac muscle through regulating macrophage polarization. 38
31212255 2019
34
Effect of Implant Abutment Acid Etching on the Retention of Crowns Luted with Different Cements: An In Vitro Comparative Evaluation. 38
31198369 2019
35
Two types of core/shell fibers based on carboxymethyl chitosan and Sodium carboxymethyl cellulose with self-assembled liposome for buccal delivery of carvedilol across TR146 cell culture and porcine buccal mucosa. 38
30695727 2019
36
Depression Fully Mediates the Effect of Multimorbidity on Self-Rated Health for Economically Disadvantaged African American Men but Not Women. 38
31091652 2019
37
Ureido-modified carboxymethyl chitosan-graft-stearic acid polymeric nano-micelles as a targeted delivering carrier of clarithromycin for Helicobacter pylori: Preparation and in vitro evaluation. 38
30772413 2019
38
Carboxymethyl chitosan-based nanogels via acid-labile ortho ester linkages mediated enhanced drug delivery. 38
30771386 2019
39
Gas chromatographic analysis of polychlorinated biphenyls in compost samples from different origin. 38
30774025 2019
40
Developing and testing prognostic bio-scoring systems for canine mammary gland carcinomas. 38
31099972 2019
41
Microwave solvothermal carboxymethyl chitosan templated synthesis of TiO2/ZrO2 composites toward enhanced photocatalytic degradation of Rhodamine B. 38
30682590 2019
42
Transcription factor TEAD1 is essential for vascular development by promoting vascular smooth muscle differentiation. 38
31024075 2019
43
Emergency Department Utilization among Underserved African American Older Adults in South Los Angeles. 38
30986915 2019
44
Development and characterization of antioxidant active packaging and intelligent Al3+-sensing films based on carboxymethyl chitosan and quercetin. 38
30625350 2019
45
Macromolecular inversion-driven polymer insertion into model lipid bilayer membranes. 38
30772510 2019
46
Recent Patterns of Multimorbidity Among Older Adults in High-Income Countries. 38
30096023 2019
47
Surface-fluorinated and pH-sensitive carboxymethyl chitosan nanoparticles to overcome biological barriers for improved drug delivery in vivo. 38
30658832 2019
48
Facile Method To Prepare a Novel Biological HKUST-1@CMCS with Macroscopic Shape Control for the Long-Acting and Sustained Release. 38
30776891 2019
49
Cell membrane capsule: a novel natural tool for antitumour drug delivery. 38
30742557 2019
50
Characterization and flocculation evaluation of a novel carboxylated chitosan modified flocculant by UV initiated polymerization. 38
30658793 2019

Variations for Chudley-Mccullough Syndrome

ClinVar genetic disease variations for Chudley-Mccullough Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GPSM2 NM_013296.5(GPSM2): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs267606854 1:109440214-109440214 1:108897592-108897592
2 GPSM2 NM_013296.5(GPSM2): c.1684C> T (p.Gln562Ter) single nucleotide variant Pathogenic rs387907010 1:109466705-109466705 1:108924083-108924083
3 GPSM2 GPSM2, 1-BP DEL, 1473G deletion Pathogenic
4 GPSM2 NM_013296.5(GPSM2): c.1661C> A (p.Ser554Ter) single nucleotide variant Pathogenic rs145191476 1:109466682-109466682 1:108924060-108924060
5 GPSM2 NM_013296.5(GPSM2): c.1062+1G> T single nucleotide variant Pathogenic rs777695770 1:109445857-109445857 1:108903235-108903235
6 GPSM2 NM_013296.5(GPSM2): c.459_460del (p.Ala154fs) deletion Pathogenic rs727505300 1:109440625-109440626 1:108898003-108898004
7 GPSM2 NM_013296.5(GPSM2): c.1063-1G> T single nucleotide variant Pathogenic rs773068151 1:109446746-109446746 1:108904124-108904124
8 GPSM2 NM_013296.5(GPSM2): c.1473del (p.Phe492fs) deletion Pathogenic rs772372530 1:109465071-109465071 1:108922449-108922449
9 GPSM2 NM_013296.5(GPSM2): c.1492C> T (p.Arg498Ter) single nucleotide variant Pathogenic/Likely pathogenic rs370907055 1:109465090-109465090 1:108922468-108922468
10 GPSM2 NM_013296.5(GPSM2): c.742del (p.Gly249fs) deletion Pathogenic/Likely pathogenic rs528069912 1:109441561-109441561 1:108898939-108898939
11 GPSM2 NM_013296.5(GPSM2): c.1546_1553del (p.Cys516fs) deletion Likely pathogenic rs1553216524 1:109465144-109465151 1:108922522-108922529
12 GPSM2 NM_013296.5(GPSM2): c.124G> A (p.Ala42Thr) single nucleotide variant Uncertain significance 1:109439553-109439553 1:108896931-108896931
13 GPSM2 NM_013296.5(GPSM2): c.-248-1G> A single nucleotide variant Uncertain significance 1:109427896-109427896 1:108885274-108885274
14 GPSM2 NM_013296.5(GPSM2): c.1909C> T (p.Arg637Trp) single nucleotide variant Uncertain significance rs189033496 1:109472416-109472416 1:108929794-108929794

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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