MCID: ISD002
MIFTS: 27

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 53 25 73
Duplication/inversion 15q11 53 25 59
Non-Distal Tetrasomy 15q 53 25 59
Idic(15) 53 25 59
Non-Telomeric Tetrasomy 15q 53 59
Chromosome 15q, Tetrasomy 29 73
Inverted Duplication 15 53 25
Inv Dup(15) 53 25
Isodicentric Chromosome 15 25
Isodicentric 15 Chromosome 59
Chromosome 15q Tetrasomy 53
Tetrasomy 15q 53
Invdup(15) 59

Characteristics:

Orphanet epidemiological data:

59
duplication/inversion 15q11
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:



Summaries for Isodicentric Chromosome 15 Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Isodicentric Chromosome 15 Syndrome, also known as duplication/inversion 15q11, is related to isodicentric 15 and angelman syndrome. Affiliated tissues include brain and eye, and related phenotypes are autistic behavior and generalized hypotonia

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:

# Related Disease Score Top Affiliating Genes
1 isodicentric 15 11.5
2 angelman syndrome 10.0
3 premature ovarian failure 1 9.9
4 autism 9.9

Symptoms & Phenotypes for Isodicentric Chromosome 15 Syndrome

Human phenotypes related to Isodicentric Chromosome 15 Syndrome:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autistic behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000729
2 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
3 joint hypermobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001382
4 drooling 59 32 hallmark (90%) Very frequent (99-80%) HP:0002307
5 stereotypy 59 32 frequent (33%) Frequent (79-30%) HP:0000733
6 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
7 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
8 severe expressive language delay 59 32 frequent (33%) Frequent (79-30%) HP:0006863
9 echolalia 59 32 frequent (33%) Frequent (79-30%) HP:0010529
10 severe receptive language delay 59 32 frequent (33%) Frequent (79-30%) HP:0011352
11 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
12 self-biting 59 32 frequent (33%) Frequent (79-30%) HP:0012169
13 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
14 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
15 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
16 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
17 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
18 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
19 broad nasal tip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000455
20 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
21 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
22 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
23 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
24 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
25 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
26 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
27 abnormal facial shape 59 32 occasional (7.5%) Occasional (29-5%) HP:0001999
28 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
29 2-3 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0004691
30 cryptorchidism 59 32 very rare (1%) Very rare (<4-1%) HP:0000028
31 unilateral renal agenesis 59 32 very rare (1%) Very rare (<4-1%) HP:0000122
32 gonadal dysgenesis 59 32 very rare (1%) Very rare (<4-1%) HP:0000133
33 precocious puberty 59 32 very rare (1%) Very rare (<4-1%) HP:0000826
34 ventricular septal defect 59 32 very rare (1%) Very rare (<4-1%) HP:0001629
35 tetralogy of fallot 59 32 very rare (1%) Very rare (<4-1%) HP:0001636
36 talipes equinovarus 59 32 very rare (1%) Very rare (<4-1%) HP:0001762
37 hernia 59 32 very rare (1%) Very rare (<4-1%) HP:0100790
38 neurodevelopmental delay 59 Frequent (79-30%)
39 prominent epicanthal folds 59 Occasional (29-5%)
40 abnormality of brain morphology 59 Occasional (29-5%)
41 frontal bossing 59 Excluded (0%)
42 epicanthus 32 occasional (7.5%) HP:0000286

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 29

Anatomical Context for Isodicentric Chromosome 15 Syndrome

MalaCards organs/tissues related to Isodicentric Chromosome 15 Syndrome:

41
Brain, Eye

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
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
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49 NCI
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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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