MCID: ISD002
MIFTS: 18

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 49 24 69
Duplication/inversion 15q11 49 24 55
Non-Distal Tetrasomy 15q 49 24 55
Idic(15) 49 24 55
Non-Telomeric Tetrasomy 15q 49 55
Chromosome 15q, Tetrasomy 28 69
Inverted Duplication 15 49 24
Inv Dup(15) 49 24
Isodicentric Chromosome 15 24
Isodicentric 15 Chromosome 55
Chromosome 15q Tetrasomy 49
Tetrasomy 15q 49
Invdup(15) 55

Characteristics:

Orphanet epidemiological data:

55
duplication/inversion 15q11
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 55 ORPHA3306
UMLS via Orphanet 70 C3711376
ICD10 via Orphanet 33 Q99.8

Summaries for Isodicentric Chromosome 15 Syndrome

NIH Rare Diseases : 49 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 tetrasomy 15q26 and xp22.13p22.2 duplication syndrome.

Genetics Home Reference : 24 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:

# Related Disease Score Top Affiliating Genes
1 tetrasomy 15q26 11.2
2 xp22.13p22.2 duplication syndrome 10.5
3 xq12-q13.3 duplication syndrome 10.5
4 angelman syndrome 10.3
5 autism 10.2
6 prader-willi syndrome 10.0
7 holoprosencephaly 10.0
8 semilobar holoprosencephaly 10.0
9 premature ovarian failure 1 9.9

Graphical network of the top 20 diseases related to Isodicentric Chromosome 15 Syndrome:



Diseases related to Isodicentric Chromosome 15 Syndrome

Symptoms & Phenotypes for Isodicentric Chromosome 15 Syndrome

Drugs & Therapeutics for Isodicentric Chromosome 15 Syndrome

Search Clinical Trials , NIH Clinical Center for Isodicentric Chromosome 15 Syndrome

Genetic Tests for Isodicentric Chromosome 15 Syndrome

Genetic tests related to Isodicentric Chromosome 15 Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 15q, Tetrasomy 28

Anatomical Context for Isodicentric Chromosome 15 Syndrome

Publications for Isodicentric Chromosome 15 Syndrome

Articles related to Isodicentric Chromosome 15 Syndrome:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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