MCID: CHR241
MIFTS: 21

Chromosome 2q24 Microdeletion Syndrome

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 2q24 Microdeletion Syndrome

MalaCards integrated aliases for Chromosome 2q24 Microdeletion Syndrome:

Name: Chromosome 2q24 Microdeletion Syndrome 54
2q24 Microdeletion Syndrome 54 60
Monosomy 2q24 54 60
Chromosome 2, Monosomy 2q24 74
2q24 Deletion 54
Deletion 2q24 54
Del(2)(q24) 60

Characteristics:

Orphanet epidemiological data:

60
2q24 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



Summaries for Chromosome 2q24 Microdeletion Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1617Disease definition2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.Visit the Orphanet disease page for more resources.

MalaCards based summary : Chromosome 2q24 Microdeletion Syndrome, also known as 2q24 microdeletion syndrome, is related to hypotonia. An important gene associated with Chromosome 2q24 Microdeletion Syndrome is TBR1 (T-Box, Brain 1). Affiliated tissues include eye and heart, and related phenotypes are short neck and intellectual disability

Related Diseases for Chromosome 2q24 Microdeletion Syndrome

Diseases related to Chromosome 2q24 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypotonia 10.1

Symptoms & Phenotypes for Chromosome 2q24 Microdeletion Syndrome

Human phenotypes related to Chromosome 2q24 Microdeletion Syndrome:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
4 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
5 neonatal hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001319
6 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
7 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
8 growth delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001510
9 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
10 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
11 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
12 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001770
13 long fingers 60 33 hallmark (90%) Very frequent (99-80%) HP:0100807
14 hand clenching 60 33 hallmark (90%) Very frequent (99-80%) HP:0001188
15 small for gestational age 60 33 hallmark (90%) Very frequent (99-80%) HP:0001518
16 bullet-shaped distal phalanx of the hallux 60 33 hallmark (90%) Very frequent (99-80%) HP:0010078
17 abnormality iris morphology 33 hallmark (90%) HP:0000525
18 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
19 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
20 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
21 microphthalmia 60 33 frequent (33%) Frequent (79-30%) HP:0000568
22 abnormal oral frenulum morphology 60 33 frequent (33%) Frequent (79-30%) HP:0000190
23 autistic behavior 60 33 frequent (33%) Frequent (79-30%) HP:0000729
24 coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000589
25 small face 60 33 frequent (33%) Frequent (79-30%) HP:0000274
26 central apnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002871
27 behavioral abnormality 60 Very frequent (99-80%)
28 global developmental delay 60 Very frequent (99-80%)
29 abnormality of the iris 60 Very frequent (99-80%)

Drugs & Therapeutics for Chromosome 2q24 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 2q24 Microdeletion Syndrome

Genetic Tests for Chromosome 2q24 Microdeletion Syndrome

Anatomical Context for Chromosome 2q24 Microdeletion Syndrome

MalaCards organs/tissues related to Chromosome 2q24 Microdeletion Syndrome:

42
Eye, Heart

Publications for Chromosome 2q24 Microdeletion Syndrome

Articles related to Chromosome 2q24 Microdeletion Syndrome:

# Title Authors Year
1
2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia. ( 29728193 )
2018

Variations for Chromosome 2q24 Microdeletion Syndrome

Expression for Chromosome 2q24 Microdeletion Syndrome

Search GEO for disease gene expression data for Chromosome 2q24 Microdeletion Syndrome.

Pathways for Chromosome 2q24 Microdeletion Syndrome

GO Terms for Chromosome 2q24 Microdeletion Syndrome

Sources for Chromosome 2q24 Microdeletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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