MCID: CRD002
MIFTS: 35

Cri-Du-Chat Syndrome malady

Genetic category

Summaries for Cri-Du-Chat Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 n 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.

NIH Rare Diseases:43 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:64 Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p- (said minus) syndrome or... more...

Description from OMIM:47 123450

Aliases & Classifications for Cri-Du-Chat Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 61UMLS, 47OMIM, 40NCIt, 27ICD9CM, 35MeSH, 57SNOMED-CT, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

cri-du-chat syndrome 8 21 10 61
5p deletion syndrome 8 64 43 21
cat cry syndrome 64 43 21
5p- syndrome 64 43 21
monosomy 5p 43 21 61
chromosome 5p deletion syndrome 8 43
cri du chat syndrome 43 20
partial monosomy 5p 43 22
chromosome 5 short arm deletion syndrome 8
5p partial monosomy syndrome 8
gene deletion abnormality 61
chromosome 5, trisomy 5p 61
chromosome 5p- syndrome 21
chromosome 5p deletion 43
5p minus syndrome 43
5p deletion 43
deletion 5p 43
5p monosomy 43
cri du chat 64


External Ids:

Disease Ontology8 DOID:12580
OMIM47 123450
NCIt40 C34518
SNOMED-CT57 70173007
ICD9CM27 758.31
ICD1025 Q93.4

Related Diseases for Cri-Du-Chat Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

123450

Drugs & Therapeutics for Cri-Du-Chat Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Cri-Du-Chat Syndrome

Drug clinical trials:

Search ClinicalTrials for Cri-Du-Chat Syndrome

Search NIH Clinical Center for Cri-Du-Chat Syndrome

Search CenterWatch for Cri-Du-Chat Syndrome

Genetic Tests for Cri-Du-Chat Syndrome

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

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

33
Heart

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

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Cri-Du-Chat Syndrome

Genetic Variations for Cri-Du-Chat Syndrome

Expression for genes affiliated with Cri-Du-Chat Syndrome

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

Search GEO for disease gene expression data for Cri-Du-Chat Syndrome.

Pathways for genes affiliated with Cri-Du-Chat Syndrome

Compounds for genes affiliated with Cri-Du-Chat Syndrome

Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1cdcs4510.0TERT, CTNND2

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

Products for genes affiliated with Cri-Du-Chat Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cri-Du-Chat Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet