MCID: CHD004
MIFTS: 30

Chudley-Mccullough Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Fetal 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 chronic mucocutaneous candidiasis and arachnoid cysts. An important gene associated with Chudley-Mccullough Syndrome is GPSM2 (G Protein Signaling Modulator 2). Affiliated tissues include brain, 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 all 17)
# Related Disease Score Top Affiliating Genes
1 chronic mucocutaneous candidiasis 11.8
2 arachnoid cysts 11.3
3 capillary malformations, congenital 11.1
4 candidiasis, familial, 1 10.9
5 immunodeficiency 31c 10.9
6 hydrocephalus 10.4
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
8 osteoarthritis 10.0
9 osteoporosis 9.8
10 hearing loss, cisplatin-induced 9.8
11 b-cell lymphomas 9.8
12 lymphoma 9.8
13 osteomyelitis 9.8
14 hemiplegia 9.8
15 candidiasis 9.8
16 arthropathy 9.8
17 influenza 9.8

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

Publications for Chudley-Mccullough Syndrome

Articles related to Chudley-Mccullough Syndrome:

(show all 15)
# 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
Defective Gpsm2/GI+i3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome. ( 28387217 )
2017
3
A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome. ( 27180139 )
2016
4
Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation. ( 27064331 )
2016
5
Prenatal diagnosis of Chudley-McCullough syndrome. ( 27312216 )
2016
6
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America. ( 23494849 )
2013
7
Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum. ( 22430160 )
2012
8
GPSM2 mutations in Chudley-McCullough syndrome. ( 22987632 )
2012
9
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. ( 22578326 )
2012
10
Chudley-McCullough syndrome: another report and a brief review of the literature. ( 21127420 )
2011
11
Chudley McCullough syndrome. ( 17962956 )
2008
12
Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome. ( 16642503 )
2006
13
Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities. ( 14679590 )
2004
14
Chudley-McCullough syndrome: expanded phenotype and review of the literature. ( 12707963 )
2003
15
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 GRCh38 Chromosome 1, 108922449: 108922449
17 GPSM2 NM_013296.4(GPSM2): c.1473delG (p.Phe492Serfs) deletion Pathogenic rs772372530 GRCh37 Chromosome 1, 109465071: 109465071
18 GPSM2 NM_013296.4(GPSM2): c.485delC (p.Pro162Leufs) deletion Pathogenic GRCh37 Chromosome 1, 109440651: 109440651
19 GPSM2 NM_013296.4(GPSM2): c.485delC (p.Pro162Leufs) deletion Pathogenic GRCh38 Chromosome 1, 108898029: 108898029
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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17 ExPASy
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70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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