MCID: CRD002
MIFTS: 56

Cri-Du-Chat Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Cri-Du-Chat Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 monosomy 5p, is related to bronchiectasis and choroiditis, and has symptoms including broad nasal root, intrauterine growth retardation and preauricular/branchial tags/appendages. An important gene associated with Cri-Du-Chat Syndrome is CTNND2 (catenin (cadherin-associated protein), delta 2), and among its related pathways are Parkin-Ubiquitin Proteasomal System pathway and Parkinsons Disease Pathway. Affiliated tissues include eye, bone and heart.

NIH Rare Diseases:44 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:66 Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p? (said minus) syndrome or... more...

Description from OMIM:48 123450

Aliases & Classifications for Cri-Du-Chat Syndrome

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9Disease Ontology, 22Genetics Home Reference, 11DISEASES, 63UMLS, 66Wikipedia, 44NIH Rare Diseases, 50Orphanet, 48OMIM, 23GTR, 21GeneTests, 36MeSH, 59SNOMED-CT, 28ICD9CM, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

50
monosomy 5p:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cri-du-chat syndrome 9 22 11 63
monosomy 5p 44 22 50 48 63
5p deletion syndrome 9 66 44 22
cri du chat syndrome 44 21 50
cat cry syndrome 66 44 22
5p- syndrome 66 44 22
chromosome 5p deletion syndrome 9 44
chromosome 5p- syndrome 44 22
partial monosomy 5p 44 23
deletion 5p 44 50
chromosome 5 short arm deletion syndrome 9
5p partial monosomy syndrome 9
gene deletion abnormality 63
chromosome 5, trisomy 5p 63
chromosome 5p deletion 44
5p minus syndrome 44
5p monosomy 44
cri du chat 66
5p deletion 44


External Ids:

Disease Ontology9 DOID:12580
OMIM48 123450
ICD9CM28 758.31
NCIt41 C34518
SNOMED-CT59 70173007
MESH via Orphanet37 C538482, D003410
ICD10 via Orphanet27 Q93.4
SNOMED-CT via Orphanet60 70173007, 42712003
UMLS via Orphanet64 C0010314, C2931860
ICD1026 Q93.4

Related Diseases for Cri-Du-Chat Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Cri-Du-Chat Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1bronchiectasis10.4
2choroiditis10.4
3arachnoiditis10.4
4apraxia10.4
5autism spectrum disorder10.4
6cataract10.4
7cervicitis10.4
8congenital heart disease10.4
9hydrocephalus10.4
10laryngitis10.4
11learning disability10.4
12pseudohypoparathyroidism10.4
13ventricular septal defect10.4
14arachnoid cysts10.4
15choroid plexus cyst10.4
16encephalocele10.4
17jacobsen syndrome10.4
18ring chromosome 510.4
19mental retardation10.4
20encephaloceles10.4
21childhood apraxia of speech10.4
22monosomy 2210.4
23hypospadias10.4
24digeorge syndrome10.4
25neuropathy10.4
26auditory neuropathy10.4
27cerebellar hypoplasia10.4
28ring chromosome 1410.4
29polyhydramnios10.2
30hypertonia10.2
31microcephaly10.0PTER, TRPV6

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



Diseases related to cri-du-chat syndrome

Symptoms for Cri-Du-Chat Syndrome

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48OMIM, 50Orphanet
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Clinical features from OMIM:

123450

Symptoms:

50 (show all 25)
  • broad nasal root
  • intrauterine growth retardation
  • preauricular/branchial tags/appendages
  • total/partial trisomy/duplication
  • round face
  • abnormal/absent ossification
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • small hand/acromicria
  • mutiple fractures/bone fragility
  • hyperextensible joints/articular hyperlaxity
  • epicanthic folds
  • low set ears/posteriorly rotated ears
  • short neck
  • syndactyly of fingers/interdigital palm
  • scoliosis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • high vaulted/narrow palate
  • hypotonia
  • inguinal/inguinoscrotal/crural hernia
  • short stature/dwarfism/nanism
  • microcephaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • micrognathia/retrognathia/micrognathism/retrognathism
  • congenital cardiac anomaly/malformation/cardiopathy
  • hypertelorism

Drugs & Therapeutics for Cri-Du-Chat Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cri-Du-Chat Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Cri-Du-Chat Syndrome:

id Genetic test Affiliating Genes
1 Cri Du Chat Syndrome21
2 5p Partial Monosomy Syndrome23

Anatomical Context for Cri-Du-Chat Syndrome

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34MalaCards
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MalaCards organs/tissues related to Cri-Du-Chat Syndrome:

34
Eye, Bone, Heart, 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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53PubMed
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Articles related to Cri-Du-Chat Syndrome:

(show top 50)    (show all 158)
idTitleAuthorsYear
1
Congenital vertical talus in Cri du Chat Syndrome: a case report. (23849392)
2013
2
Anesthetic experience of a patient with cri du chat syndrome. (24363858)
2013
3
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. (22510527)
2012
4
Prenatal diagnosis of Cri du Chat syndrome: four cases report. (22746208)
2012
5
Association between fatigue and autistic symptoms in children with cri du chat syndrome. (21740256)
2011
6
Anesthetic management of a patient with Cri Du Chat syndrome. Case report. (21146059)
2010
7
Sign communication in Cri du chat syndrome. (20400089)
2010
8
Speech and language development in cri du chat syndrome: a critical review. (18484284)
2008
9
Consonants in Cri du chat syndrome: a case study. (17949737)
2008
10
Functional analysis and treatment of chronic hair pulling in a child with cri du chat syndrome: effects on co-occurring thumb sucking. (22477674)
2008
11
Correlation between ultrasound and pathological examination in a prenatal diagnosis of Cri du Chat syndrome associated with partial trisomy 17q. (18444226)
2008
12
Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome. (17506096)
2007
13
Cri du Chat syndrome. (16953888)
2006
14
A new genomic mechanism leading to cri-du-chat syndrome. (17103439)
2006
15
Cri du Chat syndrome: a case report. (16463600)
2005
16
Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. (15657623)
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
Growth study of cri du chat syndrome. (11567947)
2001
19
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
20
Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. (9916835)
1999
21
A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. (10424821)
1999
22
Cri-du-chat syndrome diagnosed by amniocentesis performed due to abnormal maternal serum test. (9826907)
1998
23
Families of children with 5p- (cri du chat) syndrome: familial stress and sibling reactions. (9393890)
1997
24
Cri du chat syndrome. (9715326)
1996
25
Developmental and behavioural characteristics of cri du chat syndrome. (8957962)
1996
26
Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH). (8149646)
1994
27
Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier. (1606717)
1992
28
Phonatory and phonetic characteristics of prelinguistic vocal development in cri du chat syndrome. (2050838)
1991
29
Phenotypic and phoniatric findings in mosaic cri du chat syndrome. (1877615)
1991
30
Two cases of cri-du-chat syndrome with mild phenotypic effect but with different size of 5p deletion. (2206616)
1990
31
De novo inv(5)(p15q22), del(5)(p15) in a boy with cri du chat syndrome. (3573006)
1987
32
A Y/5 translocation in a 45,X male with cri du chat syndrome. (3653888)
1987
33
Anesthetic considerations in cri du chat syndrome: a report of three cases. (4025870)
1985
34
An avoidable recurrence of cri du chat syndrome in the next generation. (6416600)
1983
35
A tdic(5;15)(p31;p11) chromosome showing variation for constriction in the centromeric regions in a patient with the cri du chat syndrome. (456039)
1979
36
Ocular findings in a newborn with cri du chat syndrome. (418724)
1978
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
Translocation Y/5 resulting in Cri du Chat syndrome. (589854)
1977
40
Dermatoglyphics in Cri du Chat syndrome. (837572)
1977
41
The larynx in the cri du chat syndrome. (925494)
1977
42
Case study: a premature baby with cri-du-chat syndrome. (1047182)
1976
43
Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome. (1002156)
1976
44
Ocular abnormalities in the cri du chat syndrome. (4624375)
1972
45
An autoradiographic study of the chromosomes in the cri du chat syndrome. (5291170)
1971
46
Long arm measurements of chromosomes 4 and 5 with special reference to the cri du chat syndrome. (5822325)
1969
47
Combination of Goldenhar's syndrome with the Cri-Du-Chat syndrome. (4974461)
1968
48
Enlarged B-group chromosome (4-5). Association with the cri du chat syndrome. (6019447)
1967
49
Alternative DNA replication patterns associated with long arm length of chromosomes 4 and 5 in the cri du chat syndrome. (5921496)
1966
50
The cri du chat syndrome. (5862044)
1965

Variations for Cri-Du-Chat Syndrome

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Expression for genes affiliated with Cri-Du-Chat Syndrome

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2BioGPS, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters
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Pathways related to Cri-Du-Chat Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway61
9.0UBE2G2, UBE2G1
29.0UBE2G2, UBE2G1

Compounds for genes affiliated with Cri-Du-Chat Syndrome

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

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17Gene Ontology
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Biological processes related to Cri-Du-Chat Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein K48-linked ubiquitinationGO:0709369.0UBE2G2, UBE2G1

Molecular functions related to Cri-Du-Chat Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.6TRPV6, CTNND2, UBE2G2, MTMR12, ASAP2, ZFR

Products for genes affiliated with Cri-Du-Chat Syndrome

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Sources for Cri-Du-Chat Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet