MCID: CRD002
MIFTS: 46

Cri-Du-Chat Syndrome malady

Genetic diseases category

Summaries for Cri-Du-Chat Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.

MalaCards: Cri-Du-Chat Syndrome, also known as 5p deletion syndrome, is related to mental retardation in cri-du-chat syndrome and adult syndrome. An important gene associated with Cri-Du-Chat Syndrome is CTNND2 (catenin (cadherin-associated protein), delta 2). The compound cdcs have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and brain.

NIH Rare Diseases:42 Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. infants with this condition often have a high-pitched cry that sounds like that of a cat. the disorder is characterized by intellectual disability and delayed development, small head size, low birth weight, weak muscle tone in infancy, and distinctive facial features. while cri du chat syndrome is a genetic condition, most cases are not inherited. last updated: 4/13/2010

Wikipedia:63 Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p- (said minus) syndrome or... more...

Description from OMIM:46 123450

Aliases & Classifications for Cri-Du-Chat Syndrome

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 46OMIM, 39NCIt, 27ICD9CM, 34MeSH, 56SNOMED-CT, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

cri-du-chat syndrome 8 21 10 60
5p deletion syndrome 8 63 42 21
cat cry syndrome 63 42 21
5p- syndrome 63 42 21
monosomy 5p 42 21 60
chromosome 5p deletion syndrome 8 42
cri du chat syndrome 42 20
partial monosomy 5p 42 22
chromosome 5 short arm deletion syndrome 8
5p partial monosomy syndrome 8
gene deletion abnormality 60
chromosome 5, trisomy 5p 60
chromosome 5p- syndrome 21
chromosome 5p deletion 42
5p minus syndrome 42
5p deletion 42
deletion 5p 42
5p monosomy 42
cri du chat 63


External Ids:

Disease Ontology8 DOID:12580
OMIM46 123450
NCIt39 C34518
SNOMED-CT56 70173007
ICD9CM27 758.31
ICD1025 Q93.4

Related Diseases for Cri-Du-Chat Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Cri-Du-Chat Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation in cri-du-chat syndrome31.1CTNND2
2adult syndrome10.5
3angelman syndrome10.4
4choroiditis10.4
5arachnoiditis10.4
6edwards syndrome10.4
7bronchiectasis10.4
8cornelia de lange syndrome10.4
9apraxia10.4
10autism spectrum disorder10.4
11cataract10.4
12cervicitis10.4
13hydrocephalus10.4
14laryngitis10.4
15learning disability10.4
16pseudohypoparathyroidism10.4
17ventricular septal defect10.4
18image syndrome10.4
19digeorge syndrome10.3
20hypospadias10.3
21neuropathy10.3
22polyhydramnios10.1
23dandy-walker syndrome10.1
24wolf-hirschhorn syndrome10.0PTER
25williams-beuren syndrome10.0
26trichorhinophalangeal syndrome type ii10.0
271p36 deletion syndrome10.0
28smith magenis syndrome10.0
291q21.1 microdeletion10.0
309q22.3 microdeletion10.0
3115q24 microdeletion syndrome10.0
32kleefstra syndrome10.0
33mitochondrial dna deletion syndromes10.0
34phelan-mcdermid syndrome10.0
35y chromosome infertility10.0
36chromosome 10p deletion10.0
37chromosome 11p deletion10.0
38chromosome 11q deletion10.0
39jacobsen syndrome10.0
40chromosome 12p deletion10.0
41chromosome 12q deletion10.0
42chromosome 13q deletion10.0
43chromosome 14q deletion10.0
44chromosome 15q deletion10.0
45chromosome 15q25.2 deletion10.0
46chromosome 16p deletion10.0
4716p11.2 deletion syndrome10.0
48chromosome 16p13.3 deletion syndrome10.0
49chromosome 16q deletion10.0
50chromosome 17p deletion10.0

Graphical network of the top 20 diseases related to Cri-Du-Chat Syndrome:



Diseases related to cri-du-chat syndrome

Clinical Features for Cri-Du-Chat Syndrome

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46OMIM
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Clinical features from OMIM:

123450

Drugs & Therapeutics for Cri-Du-Chat Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Cri-Du-Chat Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Cri-Du-Chat Syndrome:

id Genetic test Affiliating Genes
1 Cri Du Chat Syndrome20
2 5p Partial Monosomy Syndrome22

Anatomical Context for Cri-Du-Chat Syndrome

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32MalaCards
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MalaCards organs/tissues related to Cri-Du-Chat Syndrome:

32
Heart, Eye, Brain, Lung, Testes

Animal Models for Cri-Du-Chat Syndrome or affiliated genes

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Publications for Cri-Du-Chat Syndrome

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50PubMed
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Articles related to Cri-Du-Chat Syndrome:

(show top 50)    (show all 162)
idTitleAuthorsYear
1
Congenital vertical talus in Cri du Chat Syndrome: a case report. (23849392)
2013
2
Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes. (23937369)
2013
3
Determination of periodontopathogens in patients with Cri du chat syndrome. (24121919)
2013
4
Prenatal diagnosis of Cri du Chat syndrome: four cases report. (22746208)
2012
5
Cri du chat syndrome: a series of five cases. (23455788)
2012
6
A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome. (21205041)
2011
7
Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation. (21601848)
2011
8
Educational Priorities for Children with Cri-Du-Chat Syndrome. (20157360)
2010
9
Prenatal diagnosis of Cri-du chat syndrome following high maternal serum human chorionic gonodotrophin and choroid plexus cysts. (19206124)
2009
10
Sleep in individuals with Cri du Chat syndrome: a comparative study. (19508289)
2009
11
Speech and language development in cri du chat syndrome: a critical review. (18484284)
2008
12
Functional analysis and treatment of chronic hair pulling in a child with cri du chat syndrome: effects on co-occurring thumb sucking. (22477674)
2008
13
Correlation between ultrasound and pathological examination in a prenatal diagnosis of Cri du Chat syndrome associated with partial trisomy 17q. (18444226)
2008
14
Auditory pathology in cri-du-chat (5p-) syndrome: phenotypic evidence for auditory neuropathy. (17850635)
2007
15
Cri-du-chat syndrome. (18437967)
2007
16
A new genomic mechanism leading to cri-du-chat syndrome. (17103439)
2006
17
Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium. (16585274)
2006
18
Prenatal diagnosis of cri du chat syndrome with encephalocele. (16215919)
2005
19
A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up. (15844774)
2005
20
Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. (12629597)
2003
21
Reversal of bronchiectasis caused by chronic aspiration in cri du chat syndrome. (11668107)
2001
22
The first three mosaic cri du chat syndrome patients with two rearranged cell lines. (11186943)
2000
23
Cri du chat syndrome: changing phenotype in older patients. (10678657)
2000
24
Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome. (10482877)
1999
25
Cri-du-chat syndrome diagnosed by amniocentesis performed due to abnormal maternal serum test. (9826907)
1998
26
Families of children with 5p- (cri du chat) syndrome: familial stress and sibling reactions. (9393890)
1997
27
Cri du chat syndrome. (9715326)
1996
28
The neuropsychological profile of cri du chat syndrome without significant learning disability. (8870615)
1996
29
Anaesthetic considerations for the patient with cri du chat syndrome. (7489425)
1995
30
Clustering of cri du chat syndrome among the Bedouins. (8488884)
1993
31
Fertility and the cri du chat syndrome. (8330455)
1993
32
5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly. (2311266)
1990
33
Parental origin of chromosome 5 deletions in the cri-du-chat syndrome. (1978567)
1990
34
Anesthetic considerations in cri du chat syndrome: a report of three cases. (4025870)
1985
35
An avoidable recurrence of cri du chat syndrome in the next generation. (6416600)
1983
36
Reciprocal translocation t(5;6)(p13;q27) through three generations: case report of cri du chat syndrome. (7358380)
1980
37
The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. (365706)
1978
38
Cri-du-chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin. (83210)
1978
39
Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome. (641952)
1978
40
Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome. (1002156)
1976
41
Deletion of the short arm of chromosome 5 from a subject with cri-du-chat syndrome respository identification no. GM-71. (1001031)
1976
42
Defects in granulocyte function in various chromosome abnormalities (Down's-, Edwards'-, Cri-du-chat syndrome). (176505)
1976
43
Cri du chat syndrome [46, XY, 5p-] with balanced B/F translocation in father and grandfather: a case report. (4462641)
1974
44
Studies on human triosephosphate isomerase. 3. Characterization of the enzyme from patients with the cri du chat syndrome. (4716662)
1973
45
Cri-du-chat syndrome combined with partial C-group trisomy. (5079100)
1972
46
Localization of the deleted segment in the Cri-du-Chat syndrome. (4641843)
1972
47
Cri-du-chat syndrome in a 10 year old girl with deletion of the short arms of chromosome number 5. Observations on dermatoglyphics, maxillo-mandibular measurements and sound spectrograms. (5585047)
1967
48
Cri-du-chat syndrome. Case report. (5585045)
1967
49
The cri du chat syndrome: neuropathologic observations. (5582929)
1967
50
CHROMOSOMAL AUTORADIOGRAPHY IN THE CRI DU CHAT SYNDROME. (14248464)
1964

Genetic Variations for Cri-Du-Chat Syndrome

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Expression for genes affiliated with Cri-Du-Chat Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cri-Du-Chat Syndrome

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Pathways for genes affiliated with Cri-Du-Chat Syndrome

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Compounds for genes affiliated with Cri-Du-Chat Syndrome

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44Novoseek
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Compounds related to Cri-Du-Chat Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cdcs4410.0TERT, CTNND2

GO Terms for genes affiliated with Cri-Du-Chat Syndrome

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Products for genes affiliated with Cri-Du-Chat Syndrome

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Sources for Cri-Du-Chat Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet