MCID: ISD002
MIFTS: 15

Isodicentric Chromosome 15 Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Isodicentric Chromosome 15 Syndrome

MalaCards integrated aliases for Isodicentric Chromosome 15 Syndrome:

Name: Isodicentric Chromosome 15 Syndrome 50 25 69
Duplication/inversion 15q11 50 25 56
Non-Distal Tetrasomy 15q 50 25 56
Inv Dup(15) 50 25 56
Idic(15) 50 25 56
Non-Telomeric Tetrasomy 15q 50 56
Chromosome 15q, Tetrasomy 29 69
Inverted Duplication 15 50 25
Isodicentric Chromosome 15 25
Isodicentric 15 Chromosome 56
Chromosome 15q Tetrasomy 50
Tetrasomy 15q 50

Characteristics:

Orphanet epidemiological data:

56
duplication/inversion 15q11
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 56 ORPHA3306
UMLS via Orphanet 70 C3711376
ICD10 via Orphanet 34 Q99.8

Summaries for Isodicentric Chromosome 15 Syndrome

NIH Rare Diseases : 50 isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. as the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. treatment is based on the signs and symptoms present in each person. last updated: 1/21/2016

MalaCards based summary : Isodicentric Chromosome 15 Syndrome, also known as duplication/inversion 15q11, is related to isodicentric 15 and autistic disorder.

Genetics Home Reference : 25 Isodicentric chromosome 15 syndrome is a developmental disorder with a broad spectrum of features. The signs and symptoms vary among affected individuals.

Related Diseases for Isodicentric Chromosome 15 Syndrome

Diseases related to Isodicentric Chromosome 15 Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 isodicentric 15 11.4
2 autistic disorder 9.9

Symptoms & Phenotypes for Isodicentric Chromosome 15 Syndrome

Drugs & Therapeutics for Isodicentric Chromosome 15 Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Risk Factors for Sudden Unexplained Death in Epilepsy Recruiting NCT01662453

Search NIH Clinical Center for Isodicentric Chromosome 15 Syndrome

Genetic Tests for Isodicentric Chromosome 15 Syndrome

Genetic tests related to Isodicentric Chromosome 15 Syndrome:

id Genetic test Affiliating Genes
1 Chromosome 15q, Tetrasomy 29

Anatomical Context for Isodicentric Chromosome 15 Syndrome

Publications for Isodicentric Chromosome 15 Syndrome

Articles related to Isodicentric Chromosome 15 Syndrome:

id Title Authors Year
1
Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP. ( 27218684 )
2016
2
Isodicentric Chromosome 15 Syndrome in a Korean Patient With CafAc-au-lait Spots. ( 26131425 )
2015

Variations for Isodicentric Chromosome 15 Syndrome

Expression for Isodicentric Chromosome 15 Syndrome

Search GEO for disease gene expression data for Isodicentric Chromosome 15 Syndrome.

Pathways for Isodicentric Chromosome 15 Syndrome

GO Terms for Isodicentric Chromosome 15 Syndrome

Sources for Isodicentric Chromosome 15 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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