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 20
2q24 Microdeletion Syndrome 20 58 29 6
Monosomy 2q24 20 58
Chromosome 2, Monosomy 2q24 70
2q24 Deletion 20
Deletion 2q24 20
Del(2)(q24) 58

Characteristics:

Orphanet epidemiological data:

58
2q24 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 2q24 Microdeletion Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1617 Definition 2q24 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.

MalaCards based summary : Chromosome 2q24 Microdeletion Syndrome, also known as 2q24 microdeletion syndrome, is related to alacrima, achalasia, and mental retardation syndrome and hypotonia. An important gene associated with Chromosome 2q24 Microdeletion Syndrome is TBR1 (T-Box Brain Transcription Factor 1). Affiliated tissues include eye, and related phenotypes are intellectual disability and failure to thrive

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 alacrima, achalasia, and mental retardation syndrome 9.9
2 hypotonia 9.9

Symptoms & Phenotypes for Chromosome 2q24 Microdeletion Syndrome

Human phenotypes related to Chromosome 2q24 Microdeletion Syndrome:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
5 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
6 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
7 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
8 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
9 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
10 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
11 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
12 hand clenching 58 31 hallmark (90%) Very frequent (99-80%) HP:0001188
13 small for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001518
14 long fingers 58 31 hallmark (90%) Very frequent (99-80%) HP:0100807
15 abnormality iris morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000525
16 bullet-shaped distal phalanx of the hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010078
17 seizure 31 hallmark (90%) HP:0001250
18 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
19 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
20 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
21 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
22 abnormal oral frenulum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000190
23 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
24 coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000589
25 small face 58 31 frequent (33%) Frequent (79-30%) HP:0000274
26 central apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002871
27 seizures 58 Very frequent (99-80%)
28 global developmental delay 58 Very frequent (99-80%)
29 behavioral abnormality 58 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

Genetic tests related to Chromosome 2q24 Microdeletion Syndrome:

# Genetic test Affiliating Genes
1 2q24 Microdeletion Syndrome 29

Anatomical Context for Chromosome 2q24 Microdeletion Syndrome

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

40
Eye

Publications for Chromosome 2q24 Microdeletion Syndrome

Articles related to Chromosome 2q24 Microdeletion Syndrome:

# Title Authors PMID Year
1
Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations. 61
6500560 1984

Variations for Chromosome 2q24 Microdeletion Syndrome

ClinVar genetic disease variations for Chromosome 2q24 Microdeletion Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 99 genes GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss Pathogenic 981210 GRCh37: 2:163078055-182119617
GRCh38:

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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