MCID: CRD002
MIFTS: 47

Cri-Du-Chat Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Cri-Du-Chat Syndrome

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Sources:
10Disease Ontology, 23Genetics Home Reference, 12DISEASES, 36MeSH, 65UMLS, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cri-Du-Chat Syndrome:

Name: Cri-Du-Chat Syndrome 10 23 12 36 65
5p Deletion Syndrome 10 68 45 23
Cat Cry Syndrome 68 45 22 23
5p- Syndrome 68 45 22 23
Monosomy 5p 45 23 51 65
Cri Du Chat Syndrome 45 22 51
Chromosome 5p Deletion Syndrome 10 45
Chromosome 5p- Syndrome 45 23
Partial Monosomy 5p 45 24
 
Deletion 5p 45 51
Chromosome 5 Short Arm Deletion Syndrome 10
5p Partial Monosomy Syndrome 10
Chromosome 5p Deletion 45
5p Minus Syndrome 45
5p Monosomy 45
5p Deletion 45
Cri Du Chat 68

Characteristics:

Orphanet epidemiological data:

51
monosomy 5p:
Inheritance: Not applicable; Age of onset: Neonatal

HPO:

61
Inheritance: sporadic


Classifications:



External Ids:

Disease Ontology10 DOID:12580
ICD1027 Q93.4
ICD9CM29 758.31
MeSH36 D003410
NCIt42 C34518
SNOMED-CT59 70173007
Orphanet51 281
MESH via Orphanet37 D003410, C538482
UMLS via Orphanet66 C0010314, C2931860
ICD10 via Orphanet28 Q93.4
UMLS65 C0010314, C2931860

Summaries for Cri-Du-Chat Syndrome

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NIH Rare Diseases:45 Chromosome 5p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 5. the severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. features that often occur in people with chromosome 5p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. chromosome testing of both parents can provide more information on whether or not the deletion was inherited. in most cases, parents do not have any chromosomal anomaly. however, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. the balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. treatment is based on the signs and symptoms present in each person. this page is meant to provide general information about 5p deletions. you can contact gard if you have questions about a specific deletion on chromosome 5. to learn more about chromosomal anomalies please visit our gard webpage on faqs about chromosome disorders. last updated: 4/11/2016

MalaCards based summary: Cri-Du-Chat Syndrome, also known as 5p deletion syndrome, is related to lymphoma and malaria, and has symptoms including cognitive impairment, abnormality of chromosome segregation and abnormality of the voice. An important gene associated with Cri-Du-Chat Syndrome is CTNND2 (Catenin Delta 2). Affiliated tissues include testes, eye and heart.

Genetics Home Reference:23 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.

Wikipedia:68 Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− (said minus) syndrome or... more...

Related Diseases for Cri-Du-Chat Syndrome

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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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Symptoms:

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

HPO human phenotypes related to Cri-Du-Chat Syndrome:

(show all 93)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 abnormality of chromosome segregation hallmark (90%) HP:0002916
3 abnormality of the voice hallmark (90%) HP:0001608
4 muscular hypotonia hallmark (90%) HP:0001252
5 wide nasal bridge hallmark (90%) HP:0000431
6 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
7 micrognathia hallmark (90%) HP:0000347
8 round face hallmark (90%) HP:0000311
9 epicanthus hallmark (90%) HP:0000286
10 microcephaly hallmark (90%) HP:0000252
11 short stature typical (50%) HP:0004322
12 short palm typical (50%) HP:0004279
13 scoliosis typical (50%) HP:0002650
14 intrauterine growth retardation typical (50%) HP:0001511
15 downslanted palpebral fissures typical (50%) HP:0000494
16 short neck typical (50%) HP:0000470
17 hypertelorism typical (50%) HP:0000316
18 abnormality of the palate typical (50%) HP:0000174
19 finger syndactyly occasional (7.5%) HP:0006101
20 abnormality of bone mineral density occasional (7.5%) HP:0004348
21 hernia of the abdominal wall occasional (7.5%) HP:0004299
22 recurrent fractures occasional (7.5%) HP:0002757
23 joint hypermobility occasional (7.5%) HP:0001382
24 preauricular skin tag occasional (7.5%) HP:0000384
25 cat cry HP:0200046
26 overfriendliness HP:0100025
27 conspicuously happy disposition HP:0100024
28 abnormality of cardiovascular system morphology HP:0030680
29 oppositional defiant disorder HP:0010865
30 hyperacusis HP:0010780
31 short metatarsal HP:0010743
32 echolalia HP:0010529
33 short metacarpal HP:0010049
34 anterior open-bite malocclusion HP:0009102
35 feeding difficulties in infancy HP:0008872
36 recurrent infections in infancy and early childhood HP:0005437
37 functional respiratory abnormality HP:0002795
38 downturned corners of mouth HP:0002714
39 scoliosis HP:0002650
40 difficulty walking HP:0002355
41 premature graying of hair HP:0002216
42 gastroesophageal reflux HP:0002020
43 metatarsus adductus HP:0001840
44 pes planus HP:0001763
45 diastasis recti HP:0001540
46 small for gestational age HP:0001518
47 growth delay HP:0001510
48 neonatal hypotonia HP:0001319
49 hypertonia HP:0001276
50 intellectual disability HP:0001249
51 syndactyly HP:0001159
52 high axial triradius HP:0001042
53 single transverse palmar crease HP:0000954
54 hyperactivity HP:0000752
55 delayed speech and language development HP:0000750
56 self-mutilation HP:0000742
57 anxiety HP:0000739
58 short attention span HP:0000736
59 stereotypic behavior HP:0000733
60 aggressive behavior HP:0000718
61 autism HP:0000717
62 optic atrophy HP:0000648
63 myopia HP:0000545
64 cataract HP:0000518
65 downslanted palpebral fissures HP:0000494
66 strabismus HP:0000486
67 short neck HP:0000470
68 wide nasal bridge HP:0000431
69 stenosis of the external auditory canal HP:0000402
70 preauricular skin tag HP:0000384
71 abnormality of the pinna HP:0000377
72 low-set ears HP:0000369
73 hearing impairment HP:0000365
74 prominent supraorbital ridges HP:0000336
75 facial asymmetry HP:0000324
76 short philtrum HP:0000322
77 hypertelorism HP:0000316
78 round face HP:0000311
79 microretrognathia HP:0000308
80 epicanthus HP:0000286
81 long face HP:0000276
82 narrow face HP:0000275
83 facial grimacing HP:0000273
84 microcephaly HP:0000252
85 high palate HP:0000218
86 oral cleft HP:0000202
87 bifid uvula HP:0000193
88 thick lower lip vermilion HP:0000179
89 abnormality of the kidney HP:0000077
90 hypospadias HP:0000047
91 cryptorchidism HP:0000028
92 inguinal hernia HP:0000023
93 high pitched voice HP:0001620

Drugs & Therapeutics for Cri-Du-Chat Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1SNP-based Microdeletion and Aneuploidy RegisTry (SMART)RecruitingNCT02381457
2Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770
3Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal BloodRecruitingNCT01852708

Search NIH Clinical Center for Cri-Du-Chat Syndrome


Cochrane evidence based reviews: cri-du-chat syndrome

Genetic Tests for Cri-Du-Chat Syndrome

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Genetic tests related to Cri-Du-Chat Syndrome:

id Genetic test Affiliating Genes
1 Cri Du Chat Syndrome22

Anatomical Context for Cri-Du-Chat Syndrome

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

33
Testes, Eye, Heart, Bone, Skin, Kidney, Lung

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

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Publications for Cri-Du-Chat Syndrome

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Articles related to Cri-Du-Chat Syndrome:

(show top 50)    (show all 175)
idTitleAuthorsYear
1
Is it Time to Change the Standard Procedure for Hepatocellular Carcinoma from an Open to a Laparoscopic Approach? (25907883)
2015
2
Untangling the relationship between medication adherence and post-myocardial infarction outcomes: Medication adherence and clinical outcomes. (24332142)
2014
3
Suicidal ideation and suicidal behaviour in delusional disorder: a clinical overview. (24829903)
2014
4
Autophagy-related proteins LC3 and Beclin-1 impact the efficacy of chemoradiation on esophageal squamous cell carcinoma. (23880165)
2013
5
Twist1 controls lung vascular permeability and endotoxin-induced pulmonary edema by altering Tie2 expression. (24023872)
2013
6
Obesity and adiposity indicators, asthma, and atopy inA Puerto Rican children. (24290290)
2013
7
Microscopic polyangiitis secondary to silica exposure. (23886979)
2013
8
Clinical and Immunological Analysis of Cutaneous Leishmaniasis before and after Different Treatments. (23844278)
2013
9
Pulmonary production of osteopontin in humans: effects of left ventricular systolic dysfunction and cardiopulmonary bypass. (24239954)
2013
10
Incidence and location of positive nonsentinel lymph nodes in head and neck melanoma. (24361245)
2013
11
Successful renal transplantation from a brain-dead deceased donor with head injury, disseminated intravascular coagulation and deranged renal functions. (24339525)
2013
12
Neural correlates of self-reflection in post-traumatic stress disorder. (22007877)
2012
13
IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance. (22646060)
2012
14
Selective laser trabeculoplasty in Egyptian patients with primary open-angle glaucoma. (22837623)
2012
15
The case of disappearing coronary stenosis. (21180043)
2010
16
Functional characterization of high levels of meningioma 1 as collaborating oncogene in acute leukemia. (20072157)
2010
17
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage. (19643912)
2009
18
Considerations in pharmacy compounding and the treatment of spasticity. Introduction. (19710447)
2009
19
Ceramide promotes apoptosis in chronic myelogenous leukemia-derived K562 cells by a mechanism involving caspase-8 and JNK. (18948750)
2008
20
Lysosome-associated small Rab GTPase Rab7b negatively regulates TLR4 signaling in macrophages by promoting lysosomal degradation of TLR4. (17395780)
2007
21
Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. (17502464)
2007
22
Inverted papilloma of paranasal sinuses. (17267229)
2007
23
T lymphocyte cytokine production patterns in hashimoto patients with elevated calcitonin levels and their relationship to tumor initiation. (17201182)
2006
24
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. (16945537)
2006
25
Epithelioid sarcoma in children and adolescents: a report from the Italian Soft Tissue Sarcoma Committee. (16353216)
2006
26
Purification and functional properties of a Rab8-specific GEF (Rabin3) in action remodeling and polarized transport. (16473595)
2005
27
Overexpression of beta1-chain-containing laminins in capillary basement membranes of human breast cancer and its metastases. (15987446)
2005
28
Phospho-pivot modeling predicts specific interactions of protein phosphatase-1 with a phospho-inhibitor protein CPI-17. (15944417)
2005
29
A C-terminal region dictates the apical plasma membrane targeting of the human sodium-dependent vitamin C transporter-1 in polarized epithelia. (15084584)
2004
30
Tear outflow. Impact of mucins and TFF-peptides]. (14872263)
2004
31
Cholesterol depletion of human immunodeficiency virus type 1 and simian immunodeficiency virus with beta-cyclodextrin inactivates and permeabilizes the virions: evidence for virion-associated lipid rafts. (12857892)
2003
32
New anticoagulants: current status and future potential. (14727932)
2003
33
Effect of induction therapy on Hepatitis C. (12174222)
2002
34
alpha-bromoacetophenone derivatives as neutral protein tyrosine phosphatase inhibitors: structure-Activity relationship. (12372498)
2002
35
Use of 2-chlorodeoxyadenosine to treat infantile myofibromatosis. (11902743)
2002
36
Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps. (10938175)
2000
37
Alcohol and aldehyde dehydrogenase polymorphisms in Japanese patients with alcohol-induced chronic pancreatitis. (11117576)
2000
38
The expression of mdr-1-related gp-170 and its correlation with anthracycline resistance in renal cell carcinoma cell lines and multidrug-resistant sublines. (9806185)
1998
39
Interleukin 1 alpha hematological examination in mechanics exposed to low benzene concentrations. (9523245)
1998
40
Production of interleukin 13 by alveolar macrophages from normal and fibrotic lung. (9448046)
1998
41
Stability of protease Q against autolysis and in sodium dodecyl sulfate and urea solutions. (9398655)
1997
42
Dependence of cyclin E-CDK2 kinase activity on cell anchorage. (8560263)
1996
43
Serum concentrations of osteocalcin in pregnant women with multinodular thyroid goiter undergoing treatment with levothyroxine. (7588433)
1995
44
Disturbances in the production of interleukin-1 and tumor necrosis factor in disseminated murine sporotrichosis. (7808513)
1994
45
Role of interleukin-6 and transforming growth factor-beta in anorexia nervosa. (7893847)
1994
46
Second-site long terminal repeat (LTR) revertants of replication-defective human immunodeficiency virus: effects of revertant TATA box motifs on virus infectivity, LTR-directed expression, in vitro RNA synthesis, and binding of basal transcription factors TFIID and TFIIA. (8151790)
1994
47
PVS: persistent vegetative state. (2380058)
1990
48
Bilateral breast cancer: the frequency of undiagnosed cancers. (3017110)
1986
49
Endodermal sinus tumor of the mediastinum. Report of apparent cure in two patients with extensive disease. (6207993)
1984
50
Aging-related changes in retrograde amnesia for mice. (6890009)
1982

Variations for Cri-Du-Chat Syndrome

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Expression for genes affiliated with Cri-Du-Chat Syndrome

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

Pathways 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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Sources for Cri-Du-Chat Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet