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 52
2q24 Microdeletion Syndrome 52 58
Monosomy 2q24 52 58
Chromosome 2, Monosomy 2q24 71
2q24 Deletion 52
Deletion 2q24 52
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

NIH Rare Diseases : 52 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 . 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 and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Chromosome 2q24 Microdeletion Syndrome is TBR1 (T-Box Brain Transcription Factor 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 10.2
2 alacrima, achalasia, and mental retardation syndrome 10.1
3 scoliosis 10.1
4 microcephaly 10.1

Symptoms & Phenotypes for Chromosome 2q24 Microdeletion Syndrome

Human phenotypes related to Chromosome 2q24 Microdeletion Syndrome:

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

Anatomical Context for Chromosome 2q24 Microdeletion Syndrome

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

40
Eye, Heart

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

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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