CMCS
MCID: CHD004
MIFTS: 36

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 58 54 60 76 30 13 6 41 74
Deafness, Sensorineural, with Partial Agenesis of the Corpus Callosum and Arachnoid Cysts 58 54
Arachnoid Cysts 45 74
Cmcs 58 76
Deafness, Bilateral Sensorineural, and Hydrocephalus Due to Foramen of Monro Obstruction 54
Sensorineural Deafness with Partial Agenesis of the Corpus Callosum and Arachnoid Cysts 76
Deafness, Autosomal Recessive 82, Formerly; Dfnb82, Formerly 58
Deafness, Autosomal Recessive 82, Formerly 58
Deafness Autosomal Recessive 82 76
Dfnb82, Formerly 58
Dfnb82 76

Characteristics:

Orphanet epidemiological data:

60
chudley-mccullough syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
chudley-mccullough syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chudley-Mccullough Syndrome

OMIM : 58 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). Affiliated tissues include brain, heart and kidney, and related phenotypes are seizures and intellectual disability, mild

UniProtKB/Swiss-Prot : 76 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 277)
# Related Disease Score Top Affiliating Genes
1 spinal intradural arachnoid cysts 12.7
2 tibia absent polydactyly arachnoid cyst 12.7
3 arachnoid cysts, intracranial 12.5
4 pachygyria with mental retardation, seizures, and arachnoid cysts 12.5
5 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies 12.3
6 chronic mucocutaneous candidiasis 12.0
7 intracranial cysts 11.7
8 melanosis, neurocutaneous 11.7
9 arachnoid cysts 11.5
10 dandy-walker complex 11.5
11 craniopharyngioma 11.5
12 capillary malformations, congenital 11.4
13 acrocallosal syndrome 11.2
14 encephalocraniocutaneous lipomatosis 11.2
15 pachygyria-intellectual disability-epilepsy syndrome 11.2
16 candidiasis, familial, 1 11.1
17 immunodeficiency 31c 11.1
18 hydrocephalus 10.6
19 syringomyelia 10.5
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
21 headache 10.4
22 congenital hydrocephalus 10.4
23 epilepsy 10.3
24 arachnoiditis 10.3
25 precocious puberty 10.3
26 trigeminal neuralgia 10.3
27 hydrocephalus, normal-pressure 10.3
28 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
29 kidney disease 10.2
30 polycystic kidney disease 10.2
31 schizophrenia 10.2
32 sensorineural hearing loss 10.2
33 autosomal dominant polycystic kidney disease 10.2
34 bobble-head doll syndrome 10.2
35 head injury 10.2
36 cauda equina syndrome 10.2
37 acoustic neuroma 10.2
38 obstructive hydrocephalus 10.2
39 cranial nerve palsy 10.2
40 intracranial hypertension 10.2
41 meningitis 10.2
42 tremor 10.2
43 osteoarthritis 10.1
44 epidermoid cysts 10.1
45 meningocele 10.1
46 facial paralysis 10.1
47 chiari malformation 10.1
48 hemifacial spasm 10.1
49 nonsyndromic deafness 10.1
50 spondyloarthropathy 1 10.0

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:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 intellectual disability, mild 33 occasional (7.5%) HP:0001256
3 hydrocephalus 33 HP:0000238
4 ventriculomegaly 33 HP:0002119
5 cerebellar hypoplasia 33 HP:0001321
6 partial agenesis of the corpus callosum 33 HP:0001338
7 polymicrogyria 33 HP:0002126
8 hypoplasia of the corpus callosum 33 HP:0002079
9 cerebellar dysplasia 33 HP:0007033
10 severe sensorineural hearing impairment 33 HP:0008625
11 arachnoid cyst 33 HP:0100702
12 dysplastic corpus callosum 33 HP:0006989
13 large foramen magnum 33 HP:0002700
14 gray matter heterotopia 33 HP:0002282

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
partial agenesis of the corpus callosum
polymicrogyria
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

Search Clinical Trials , 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 30 GPSM2

Anatomical Context for Chudley-Mccullough Syndrome

MalaCards organs/tissues related to Chudley-Mccullough Syndrome:

42
Brain, Heart, Kidney, Bone, Pituitary, Myeloid, Skin

Publications for Chudley-Mccullough Syndrome

Articles related to Chudley-Mccullough Syndrome:

(show all 34)
# Title Authors Year
1
Cochlear implant in a subject affected by the Chudley-McCullough Syndrome. ( 30907716 )
2019
2
A Facile Method to Prepare the Novel Biological HKUST-1@CMCS with Macroscopic-Shape Control for the Long-Acting and Sustained Release. ( 30776891 )
2019
3
Author Correction: Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome. ( 29799026 )
2018
4
Chudley-McCullough Syndrome. ( 30546929 )
2018
5
Endogenous ornithine decarboxylase/polyamine system mediated the antagonist role of insulin/PEG-CMCS preconditioning against heart ischemia/reperfusion injury in diabetes mellitus. ( 29719397 )
2018
6
Acceleration of skin regeneration in full-thickness burns by incorporation of bFGF-loaded alginate microspheres into a CMCS-PVA hydrogel. ( 26118827 )
2017
7
Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome. ( 28387217 )
2017
8
Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation. ( 27064331 )
2016
9
A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome. ( 27180139 )
2016
10
Prenatal diagnosis of Chudley-McCullough syndrome. ( 27312216 )
2016
11
Ligand-Free Fe3 O4 /CMCS Nanoclusters with Negative Charges for Efficient Structure-Selective Protein Adsorption. ( 26938999 )
2016
12
Uniform Superparamagnetic Fe3O4/CMCS Composite Nanospheres for Lysozyme Adsorption. ( 27455623 )
2016
13
Effects of Adding Vindoline and MeJA on Production of Vincristine and Vinblastine, and Transcription of their Biosynthetic Genes in the Cultured CMCs of Catharanthus roseus. ( 26882673 )
2015
14
Tumor-specific delivery and therapy by double-targeted DTX-CMCS-PEG-NGR conjugates. ( 24043295 )
2014
15
A study of the antibacterial activity of L-phenylalanine and L-tyrosine esters in relation to their CMCs and their interactions with 1,2-dipalmitoyl-sn-glycero-3-phosphocholine, DPPC as model membrane. ( 24667307 )
2014
16
Enrichment of circulating melanoma cells (CMCs) using negative selection from patients with metastatic melanoma. ( 24811334 )
2014
17
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America. ( 23494849 )
2013
18
Synthesis, characterization and antitumor evaluation of CMCS-DTX conjugates as novel delivery platform for docetaxel. ( 23608199 )
2013
19
Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum. ( 22430160 )
2012
20
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. ( 22578326 )
2012
21
GPSM2 mutations in Chudley-McCullough syndrome. ( 22987632 )
2012
22
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. ( 21348867 )
2012
23
Chudley-McCullough syndrome: another report and a brief review of the literature. ( 21127420 )
2011
24
Long-term coronary heart disease risk associated with very-low-density lipoprotein cholesterol in Chinese: the results of a 15-Year Chinese Multi-Provincial Cohort Study (CMCS). ( 20223457 )
2010
25
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. ( 20602914 )
2010
26
Chudley McCullough syndrome. ( 17962956 )
2008
27
CE frontal analysis employing contactless conductivity detection for determination of CMCs of non-UV absorbing charged surfactants. ( 17661318 )
2007
28
Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome. ( 16642503 )
2006
29
Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities. ( 14679590 )
2004
30
Chudley-McCullough syndrome: expanded phenotype and review of the literature. ( 12707963 )
2003
31
Aprotinin mediated antioxidant effect in Cardiosurgery with mechanical cardiorespiratory support (CMCS). ( 12124547 )
2002
32
Isothermic titration calorimetry to study CMCs of neutral surfactants and of the liposome-forming bolaamphiphile dequalinium. ( 12604038 )
2002
33
Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities. ( 10607951 )
2000
34
Aprotinin effects related to oxidative stress in cardiosurgery with mechanical cardiorespiratory support (CMCS). ( 8906205 )
1996

Variations for Chudley-Mccullough Syndrome

ClinVar genetic disease variations for Chudley-Mccullough Syndrome:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPSM2 NM_013296.4(GPSM2): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs267606854 GRCh37 Chromosome 1, 109440214: 109440214
2 GPSM2 NM_013296.4(GPSM2): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs267606854 GRCh38 Chromosome 1, 108897592: 108897592
3 GPSM2 NM_013296.4(GPSM2): c.1684C> T (p.Gln562Ter) single nucleotide variant Pathogenic rs387907010 GRCh37 Chromosome 1, 109466705: 109466705
4 GPSM2 NM_013296.4(GPSM2): c.1684C> T (p.Gln562Ter) single nucleotide variant Pathogenic rs387907010 GRCh38 Chromosome 1, 108924083: 108924083
5 GPSM2 GPSM2, 1-BP DEL, 1473G deletion Pathogenic
6 GPSM2 NM_013296.4(GPSM2): c.742delC (p.Gly249Glufs) deletion Pathogenic rs528069912 GRCh37 Chromosome 1, 109441561: 109441561
7 GPSM2 NM_013296.4(GPSM2): c.742delC (p.Gly249Glufs) deletion Pathogenic rs528069912 GRCh38 Chromosome 1, 108898939: 108898939
8 GPSM2 NM_013296.4(GPSM2): c.1661C> A (p.Ser554Ter) single nucleotide variant Pathogenic rs145191476 GRCh37 Chromosome 1, 109466682: 109466682
9 GPSM2 NM_013296.4(GPSM2): c.1661C> A (p.Ser554Ter) single nucleotide variant Pathogenic rs145191476 GRCh38 Chromosome 1, 108924060: 108924060
10 GPSM2 NM_013296.4(GPSM2): c.1062+1G> T single nucleotide variant Pathogenic rs777695770 GRCh37 Chromosome 1, 109445857: 109445857
11 GPSM2 NM_013296.4(GPSM2): c.1062+1G> T single nucleotide variant Pathogenic rs777695770 GRCh38 Chromosome 1, 108903235: 108903235
12 GPSM2 NM_013296.4(GPSM2): c.459_460delTG (p.Ala154Glnfs) deletion Pathogenic rs727505300 GRCh37 Chromosome 1, 109440625: 109440626
13 GPSM2 NM_013296.4(GPSM2): c.459_460delTG (p.Ala154Glnfs) deletion Pathogenic rs727505300 GRCh38 Chromosome 1, 108898003: 108898004
14 GPSM2 NM_013296.4(GPSM2): c.1909C> T (p.Arg637Trp) single nucleotide variant Uncertain significance rs189033496 GRCh37 Chromosome 1, 109472416: 109472416
15 GPSM2 NM_013296.4(GPSM2): c.1909C> T (p.Arg637Trp) single nucleotide variant Uncertain significance rs189033496 GRCh38 Chromosome 1, 108929794: 108929794
16 GPSM2 NM_013296.4(GPSM2): c.1063-1G> T single nucleotide variant Pathogenic rs773068151 GRCh38 Chromosome 1, 108904124: 108904124
17 GPSM2 NM_013296.4(GPSM2): c.1063-1G> T single nucleotide variant Pathogenic rs773068151 GRCh37 Chromosome 1, 109446746: 109446746
18 GPSM2 NM_013296.4(GPSM2): c.1473delG (p.Phe492Serfs) deletion Pathogenic rs772372530 GRCh38 Chromosome 1, 108922449: 108922449
19 GPSM2 NM_013296.4(GPSM2): c.1473delG (p.Phe492Serfs) deletion Pathogenic rs772372530 GRCh37 Chromosome 1, 109465071: 109465071
20 GPSM2 NM_013296.4(GPSM2): c.1492C> T (p.Arg498Ter) single nucleotide variant Pathogenic rs370907055 GRCh37 Chromosome 1, 109465090: 109465090
21 GPSM2 NM_013296.4(GPSM2): c.1492C> T (p.Arg498Ter) single nucleotide variant Pathogenic rs370907055 GRCh38 Chromosome 1, 108922468: 108922468
22 GPSM2 NM_013296.4(GPSM2): c.1546_1553del (p.Cys516Serfs) deletion Likely pathogenic rs1553216524 GRCh38 Chromosome 1, 108922522: 108922529
23 GPSM2 NM_013296.4(GPSM2): c.1546_1553del (p.Cys516Serfs) deletion Likely pathogenic rs1553216524 GRCh37 Chromosome 1, 109465144: 109465151
24 GPSM2 NM_013296.4(GPSM2): c.124G> A (p.Ala42Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 109439553: 109439553
25 GPSM2 NM_013296.4(GPSM2): c.124G> A (p.Ala42Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 108896931: 108896931

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

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