MCID: CHR555
MIFTS: 13

Chromosome 3p- Syndrome

Categories: Rare diseases

Aliases & Classifications for Chromosome 3p- Syndrome

MalaCards integrated aliases for Chromosome 3p- Syndrome:

Name: Chromosome 3p- Syndrome 53
Chromosome 3, Monosomy 3p25 53 73
Chromosome 3pter-P25 Deletion Syndrome 53
Chromosome 3, Monosomy 3p 73
Telomeric Monosomy 3p 53
Distal Monosomy 3p 53
Distal 3p Deletion 53
Monosomy 3pter 53
Del Syndrome 53
Deletion 3p25 53
3p- Syndrome 53

Classifications:



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Summaries for Chromosome 3p- Syndrome

NIH Rare Diseases : 53 Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. Common symptoms shared by many people with this deletion include poor growth, developmental delay, intellectual disability, distinctive facial features, autism spectrum disorder, an unusually small head (microcephaly), and poor muscle tone (hypotonia). Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 3p- Syndrome, also known as chromosome 3, monosomy 3p25, is related to chromosome 3pter-p25 deletion syndrome and chromosome 3p deletion, and has symptoms including muscle spasticity

Related Diseases for Chromosome 3p- Syndrome

Diseases related to Chromosome 3p- Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 3pter-p25 deletion syndrome 11.9
2 chromosome 3p deletion 10.9
3 wolf-hirschhorn syndrome 10.6
4 distal chromosome 18q deletion syndrome 10.6
5 chromosome 3p duplication 9.8
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.6

Graphical network of the top 20 diseases related to Chromosome 3p- Syndrome:



Diseases related to Chromosome 3p- Syndrome

Symptoms & Phenotypes for Chromosome 3p- Syndrome

UMLS symptoms related to Chromosome 3p- Syndrome:


muscle spasticity

Drugs & Therapeutics for Chromosome 3p- Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 3p- Syndrome

Genetic Tests for Chromosome 3p- Syndrome

Anatomical Context for Chromosome 3p- Syndrome

Publications for Chromosome 3p- Syndrome

Articles related to Chromosome 3p- Syndrome:

# Title Authors Year
1
Prenatal diagnosis of a distal 3p deletion associated with fetoplacental chromosomal discrepancy and confined placental mosaicism detected by array comparative genomic hybridization. ( 23915866 )
2013
2
Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review. ( 17696125 )
2007

Variations for Chromosome 3p- Syndrome

Expression for Chromosome 3p- Syndrome

Search GEO for disease gene expression data for Chromosome 3p- Syndrome.

Pathways for Chromosome 3p- Syndrome

GO Terms for Chromosome 3p- Syndrome

Sources for Chromosome 3p- Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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