MCID: CRD002
MIFTS: 46

Cri-Du-Chat Syndrome malady

Genetic diseases category

Summaries for Cri-Du-Chat Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 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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Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 60UMLS, 42NIH Rare Diseases, 63Wikipedia, 20GeneTests, 22GTR, 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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Drug clinical trials:

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Search CenterWatch for Cri-Du-Chat Syndrome

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
Brain stem hypoplasia associated with Cri-du-Chat syndrome. (24265573)
2013
2
Narrative discourse and sociocognitive abilities of a child with Cri-du-Chat syndrome. (23534097)
2013
3
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. (22510527)
2012
4
Assessment of orofacial characteristics and oral pathology associated with cri-du-chat syndrome. (22035137)
2012
5
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome. (23320207)
2012
6
Association between fatigue and autistic symptoms in children with cri du chat syndrome. (21740256)
2011
7
A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome. (21271672)
2011
8
Sign communication in Cri du chat syndrome. (20400089)
2010
9
Craniofacial characteristics in cri-du-chat syndrome. (21112524)
2010
10
Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome. (19923986)
2010
11
Prenatal diagnosis of cri-du-chat syndrome: importance of ultrasonographical markers. (19495505)
2009
12
Visual-motor coordination computerized training improves the visuo-spatial performance in a child affected by Cri-du-Chat syndrome. (18467929)
2008
13
The natural history of Cri du Chat Syndrome. A report from the Italian Register. (16473053)
2006
14
Airway evaluation by CT imaging for cri-du-chat syndrome. (16897256)
2006
15
Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. (15657623)
2005
16
Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia. (15690344)
2005
17
A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome. (11869383)
2002
18
Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management. (12162388)
2002
19
Growth study of cri du chat syndrome. (11567947)
2001
20
Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. (10673328)
2000
21
Psychomotor development in Cri du Chat Syndrome. (10905669)
2000
22
Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. (9916835)
1999
23
No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome. (10440832)
1999
24
FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome. (10636446)
1999
25
Receptive and expressive language skills in children with cri-du-chat syndrome. (9421768)
1998
26
Cri-du-chat syndrome: clinical profile and prenatal diagnosis. (10703584)
1998
27
Comparative mapping of the cri du chat and DiGeorge syndrome regions in the great apes. (9718678)
1998
28
Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome. (9393889)
1997
29
Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome. (8641700)
1996
30
Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. (8004090)
1994
31
Phenotypic and phoniatric findings in mosaic cri du chat syndrome. (1877615)
1991
32
Metabolic anomalies in cri du chat syndrome (5p-) lymphocytes and de novo purine synthesis. (1809230)
1991
33
Lensectomy in an infant with cri du chat syndrome and cataracts. (3165127)
1988
34
Cri du chat-syndrome in combination with partial trisomy 9 p. (3960564)
1986
35
Unusual ocular findings in an infant with cri-du-chat syndrome. (6620332)
1983
36
Psychomotor development in 65 home-reared children with cri-du-chat syndrome. (7411302)
1980
37
Translocation Y/5 resulting in Cri du Chat syndrome. (589854)
1977
38
The larynx in the cri du chat syndrome. (925494)
1977
39
Pseudohypoparathyroidism associated with cri du chat syndrome. (995018)
1976
40
Ocular abnormalities in the cri du chat syndrome. (4624375)
1972
41
An autoradiographic study of the chromosomes in the cri du chat syndrome. (5291170)
1971
42
Radiological features of the most common autosomal disorders: trisomy 21-22 (mongolism or Down's syndrome), trisomy 18, trisomy 13-15, and the cri du chat syndrome. (4257566)
1971
43
Cri-du-chat syndrome--an unhelpful designation. (4104011)
1971
44
Long arm measurements of chromosomes 4 and 5 with special reference to the cri du chat syndrome. (5822325)
1969
45
Screening for minute deletions in patients with suspected cri-du-chat syndrome and apparently normal karyotype. (5365580)
1969
46
Enlarged B-group chromosome (4-5). Association with the cri du chat syndrome. (6019447)
1967
47
The cri-du-chat syndrome with an apparently normal karyotype. (4143723)
1967
48
Alternative DNA replication patterns associated with long arm length of chromosomes 4 and 5 in the cri du chat syndrome. (5921496)
1966
49
Cri du chat syndrome. (5906633)
1966
50
CRI DU CHAT SYNDROME. (A CASE REPORT). (14333267)
1965

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