Cri-du-chat Syndrome malady

Genetics Home Reference: 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.¹⁷

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

NIH Rare Diseases: 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.³⁰

Wikipedia: Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s...⁴⁴ more...

Aliases & Descriptions:

cri-du-chat syndrome 6 17 8 43 5p deletion syndrome 6 44 30 17 cat cry syndrome 44 30 16 17 5p- syndrome 44 30 16 17 monosomy 5p 30 17 43 chromosome 5p deletion syndrome 6 30 chromosome 5p- syndrome 30 17 cri du chat syndrome 30 16 chromosome 5 short arm deletion syndrome 6 5p partial monosomy syndrome (disorder) 6

chromosome 5, trisomy 5p 43 chromosome 5p deletion 30 partial monosomy 5p 30 chromosome deletion 43 5p minus syndrome 30 5p monosomy 30 cri du chat 44 5p deletion 30 deletion 5p 30

Diseases related to cri-du-chat syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 173)

id	Related Disease	Score	Top Affiliating Genes
1	wolf-hirschhorn syndrome	30.2	MCM8, PTER, NXT2
2	mental retardation in cri-du-chat syndrome	10.0
3	chromosome 16p13.3 deletion syndrome	8.4
4	chromosome 18p deletion syndrome	8.4
5	chromosome 1p36 deletion syndrome	8.4
6	chromosome 17p deletion	8.2
7	carcinoma	8.2
8	chromosome 8p deletion	7.9
9	infertility	7.6
10	chromosome 1p deletion	7.5
11	chromosome 7p deletion	7.5
12	chromosome 8p23.1 deletion	7.5
13	1p36 deletion syndrome	7.5
14	chromosome 9p deletion	7.5
15	chromosome 19p13.13 deletion syndrome	7.5
16	smith-magenis syndrome	7.5
17	wagr syndrome	7.5
18	chromosome 3p deletion	7.2
19	chromosome 6pter-p24 deletion syndrome	7.2
20	chromosome 2p16.1-p15 deletion syndrome	7.2
21	chromosome 6p deletion	7.0
22	leukemia	7.0
23	lung cancer	7.0
24	medulloblastoma	7.0
25	chromosome 10p deletion	7.0
26	chromosome 11p deletion	7.0
27	chromosome 16p deletion	7.0
28	chromosome 19p deletion	7.0
29	chromosome 20p deletion	7.0
30	chromosome 2p deletion	7.0
31	acute lymphoblastic leukemia	6.8
32	lymphoblastic leukemia	6.8
33	10p13-p14 deletion syndrome	6.7
34	11p15-p14 deletion syndrome	6.7
35	2p16.1-p15 deletion syndrome	6.7
36	chromosome 1p32-p31 deletion syndrome	6.7
37	chromosome 2p12-p11.2 deletion syndrome	6.7
38	chromosome 11p15-p14 deletion syndrome	6.7
39	chromosome 16p12.2-p11.2 deletion syndrome	6.7
40	16p11.2 deletion syndrome	6.6
41	18p deletion syndrome	6.6
42	chromosome 12p deletion	6.6
43	oculocerebrorenal syndrome	6.6
44	postaxial acrofacial dysostosis	6.6
45	potocki-shaffer syndrome	6.6
46	chromosome 18p duplication	6.5
47	chromosome 3p duplication	6.5
48	male infertility	6.5
49	y chromosome infertility	6.5
50	cervicitis	6.1

Approved drugs:

Drug clinical trials:

Genetic tests related to cri-du-chat syndrome:

id	Genetic test	Affiliating Genes
1	Cri-du-chat Syndrome clinical/research

MalaCards organs/tissues related to cri-du-chat syndrome:

²²

Articles related to cri-du-chat syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Cri du Chat syndrome. (16953888)	Cerruti Mainardi P.	2006	TERT, SEMA5A, CTNND2
2	Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. (15657623)	Wu Q.... Hansen L.	2005	MED10
3	Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. (12629597)	Zhang A.... Xu D.	2003	TERT
4	Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. (10673328)	Medina M.... Kosik K.S.	2000	CTNND2, SEPT9

Genes related to cri-du-chat syndrome according to GeneCards:

(show all 20)

id	Symbol	Description	Score	GeneCards Section Context
1	CTNND2	catenin (cadherin-associated protein), delta 2	11.1	Disorders, Publications, Summaries
2	SEMA4C	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	11.1	Publications
3	MED10	mediator complex subunit 10	11.1	Publications, Disorders
4	NXT2	nuclear transport factor 2-like export factor 2	11.1
5	SUB1	SUB1 homolog (S. cerevisiae)	11.1	Disorders
6	SLC15A4	solute carrier family 15, member 4	11.1	Disorders
7	UBE2QL1	ubiquitin-conjugating enzyme E2Q family-like 1	11.1	Disorders
8	TRPV6	transient receptor potential cation channel, subfamily V, member 6	11.1	Disorders
9	UBE2G2	ubiquitin-conjugating enzyme E2G 2	11.1	Disorders
10	NOP2	NOP2 nucleolar protein homolog (yeast)	11.1	Disorders
11	MCM8	minichromosome maintenance complex component 8	11.1	Disorders
12	MTMR12	myotubularin related protein 12	11.1	Disorders
13	PTER	phosphotriesterase related	11.1	Disorders
14	TERT	telomerase reverse transcriptase	11.1	Publications
15	ZFR	zinc finger RNA binding protein	11.1	Disorders
16	CHAT	choline O-acetyltransferase	11.1
17	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	11.1	Disorders
18	UBE2G1	ubiquitin-conjugating enzyme E2G 1	11.1	Disorders
19	SEMA5A	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	11.1	Disorders, Publications
20	SEPT9	septin 9	9.8	Publications

Pathways related to cri-du-chat syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Ubiquitin mediated proteolysis20	9.3	UBE2G2, UBE2G1, UBE2QL1

Compounds related to cri-du-chat syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	cdcs32	9.9	TERT, CTNND2