CMCS
MCID: CHD004
MIFTS: 38

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 75 29 13 6 40 73
Deafness, Sensorineural, with Partial Agenesis of the Corpus Callosum and Arachnoid Cysts 57 53
Arachnoid Cysts 44 73
Cmcs 57 75
Deafness, Bilateral Sensorineural, and Hydrocephalus Due to Foramen of Monro Obstruction 53
Sensorineural Deafness with Partial Agenesis of the Corpus Callosum and Arachnoid Cysts 75
Deafness, Autosomal Recessive 82, Formerly; Dfnb82, Formerly 57
Deafness, Autosomal Recessive 82, Formerly 57
Deafness Autosomal Recessive 82 75
Dfnb82, Formerly 57
Dfnb82 75

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:



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). Affiliated tissues include brain, kidney and bone, and related phenotypes are hydrocephalus and seizures

UniProtKB/Swiss-Prot : 75 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 242)
# Related Disease Score Top Affiliating Genes
1 spinal intradural arachnoid cysts 12.7
2 tibia absent polydactyly arachnoid cyst 12.6
3 arachnoid cysts, intracranial 12.5
4 pachygyria with mental retardation, seizures, and arachnoid cysts 12.4
5 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies 12.3
6 chronic mucocutaneous candidiasis 11.9
7 intracranial cysts 11.7
8 melanosis, neurocutaneous 11.6
9 retrocerebellar cyst 11.6
10 arachnoid cysts 11.5
11 dandy-walker complex 11.5
12 craniopharyngioma 11.5
13 capillary malformations, congenital 11.2
14 acrocallosal syndrome 11.1
15 encephalocraniocutaneous lipomatosis 11.1
16 pachygyria-intellectual disability-epilepsy syndrome 11.1
17 candidiasis, familial, 1 11.1
18 immunodeficiency 31c 11.1
19 hydrocephalus 10.6
20 syringomyelia 10.5
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
22 headache 10.4
23 epilepsy 10.3
24 arachnoiditis 10.3
25 precocious puberty 10.3
26 trigeminal neuralgia 10.3
27 hydrocephalus, normal-pressure 10.2
28 polycystic kidney disease 10.2
29 kidney disease 10.2
30 schizophrenia 10.2
31 sensorineural hearing loss 10.2
32 autosomal dominant polycystic kidney disease 10.2
33 head injury 10.2
34 cauda equina syndrome 10.1
35 obstructive hydrocephalus 10.1
36 cranial nerve palsy 10.1
37 neuropathy 10.1
38 intracranial hypertension 10.1
39 meningitis 10.1
40 bobble-head doll syndrome 10.1
41 tremor 10.1
42 epidermoid cysts 10.1
43 meningocele 10.1
44 facial paralysis 10.1
45 chiari malformation 10.1
46 hemifacial spasm 10.1
47 joint disorders 10.1
48 osteoarthritis 10.1
49 arthropathy 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chudley-Mccullough Syndrome:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 seizures 32 occasional (7.5%) HP:0001250
3 intellectual disability, mild 32 occasional (7.5%) HP:0001256
4 ventriculomegaly 32 HP:0002119
5 cerebellar hypoplasia 32 HP:0001321
6 partial agenesis of the corpus callosum 32 HP:0001338
7 polymicrogyria 32 HP:0002126
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 heterotopias 32 HP:0002281

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 29 GPSM2

Anatomical Context for Chudley-Mccullough Syndrome

MalaCards organs/tissues related to Chudley-Mccullough Syndrome:

41
Brain, Kidney, Bone, Spinal Cord, B Cells, Myeloid, Temporal Lobe

Publications for Chudley-Mccullough Syndrome

Articles related to Chudley-Mccullough Syndrome:

(show all 16)
# Title Authors Year
1
Author Correction: Defective Gpsm2/GI+<sub>i3</sub> signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome. ( 29799026 )
2018
2
Chudley-McCullough Syndrome. ( 30546929 )
2018
3
Defective Gpsm2/GI+i3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome. ( 28387217 )
2017
4
A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome. ( 27180139 )
2016
5
Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation. ( 27064331 )
2016
6
Prenatal diagnosis of Chudley-McCullough syndrome. ( 27312216 )
2016
7
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America. ( 23494849 )
2013
8
Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum. ( 22430160 )
2012
9
GPSM2 mutations in Chudley-McCullough syndrome. ( 22987632 )
2012
10
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. ( 22578326 )
2012
11
Chudley-McCullough syndrome: another report and a brief review of the literature. ( 21127420 )
2011
12
Chudley McCullough syndrome. ( 17962956 )
2008
13
Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome. ( 16642503 )
2006
14
Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities. ( 14679590 )
2004
15
Chudley-McCullough syndrome: expanded phenotype and review of the literature. ( 12707963 )
2003
16
Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities. ( 10607951 )
2000

Variations for Chudley-Mccullough Syndrome

ClinVar genetic disease variations for Chudley-Mccullough Syndrome:

6 (show all 23)
# 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.1063-1G> T single nucleotide variant Pathogenic rs773068151 GRCh38 Chromosome 1, 108904124: 108904124
15 GPSM2 NM_013296.4(GPSM2): c.1063-1G> T single nucleotide variant Pathogenic rs773068151 GRCh37 Chromosome 1, 109446746: 109446746
16 GPSM2 NM_013296.4(GPSM2): c.1473delG (p.Phe492Serfs) deletion Pathogenic rs772372530 GRCh37 Chromosome 1, 109465071: 109465071
17 GPSM2 NM_013296.4(GPSM2): c.1473delG (p.Phe492Serfs) deletion Pathogenic rs772372530 GRCh38 Chromosome 1, 108922449: 108922449
18 GPSM2 NM_013296.4(GPSM2): c.485delC (p.Pro162Leufs) deletion Pathogenic GRCh38 Chromosome 1, 108898029: 108898029
19 GPSM2 NM_013296.4(GPSM2): c.485delC (p.Pro162Leufs) deletion Pathogenic GRCh37 Chromosome 1, 109440651: 109440651
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_1553delTGCCATAC (p.Cys516Serfs) deletion Likely pathogenic GRCh38 Chromosome 1, 108922522: 108922529
23 GPSM2 NM_013296.4(GPSM2): c.1546_1553delTGCCATAC (p.Cys516Serfs) deletion Likely pathogenic GRCh37 Chromosome 1, 109465144: 109465151

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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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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