MCID: CHR555
MIFTS: 11

Chromosome 3p- Syndrome

Categories: Rare diseases

Aliases & Classifications for Chromosome 3p- Syndrome

MalaCards integrated aliases for Chromosome 3p- Syndrome:

Name: Chromosome 3p- Syndrome 50
Chromosome 3, Monosomy 3p25 50 69
Chromosome 3pter-P25 Deletion Syndrome 50
Chromosome 3, Monosomy 3p 69
Telomeric Monosomy 3p 50
Distal Monosomy 3p 50
Distal 3p Deletion 50
Monosomy 3pter 50
Del Syndrome 50
Deletion 3p25 50
3p- Syndrome 50

Classifications:



Summaries for Chromosome 3p- Syndrome

NIH Rare Diseases : 50 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. last updated: 5/10/2015

MalaCards based summary : Chromosome 3p- Syndrome, also known as chromosome 3, monosomy 3p25, is related to 3p- syndrome and chromosome 3p deletion, and has symptoms including muscle spasticity The drug Hormones has been mentioned in the context of this disorder.

Related Diseases for Chromosome 3p- Syndrome

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

id Related Disease Score Top Affiliating Genes
1 3p- syndrome 12.2
2 chromosome 3p deletion 10.8
3 wolf-hirschhorn syndrome 10.5
4 distal chromosome 18q deletion syndrome 10.5

Symptoms & Phenotypes for Chromosome 3p- Syndrome

UMLS symptoms related to Chromosome 3p- Syndrome:


muscle spasticity

Drugs & Therapeutics for Chromosome 3p- Syndrome

Drugs for Chromosome 3p- Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors Completed NCT00001668
2 Characterization of Transcriptional Regulators of Ghrelin Hormone Which Causes Genetic Obesity Completed NCT01404624

Search NIH Clinical Center for Chromosome 3p- Syndrome

Genetic Tests for Chromosome 3p- Syndrome

Anatomical Context for Chromosome 3p- Syndrome

Publications for Chromosome 3p- Syndrome

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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