MCID: CHR241
MIFTS: 19

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 53
2q24 Microdeletion Syndrome 53 59
Monosomy 2q24 53 59
Chromosome 2, Monosomy 2q24 72
2q24 Deletion 53
Deletion 2q24 53
Del(2)(q24) 59

Characteristics:

Orphanet epidemiological data:

59
2q24 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

MESH via Orphanet 45 C538316
ICD10 via Orphanet 34 Q93.5
UMLS via Orphanet 73 C2931816
Orphanet 59 ORPHA1617
UMLS 72 C2931816

Summaries for Chromosome 2q24 Microdeletion Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1617Definition2q24 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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
6 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
7 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
8 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
9 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
10 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
11 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
12 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001770
13 long fingers 59 32 hallmark (90%) Very frequent (99-80%) HP:0100807
14 hand clenching 59 32 hallmark (90%) Very frequent (99-80%) HP:0001188
15 small for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001518
16 abnormality iris morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0000525
17 bullet-shaped distal phalanx of the hallux 59 32 hallmark (90%) Very frequent (99-80%) HP:0010078
18 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
19 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
20 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
21 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
22 abnormal oral frenulum morphology 59 32 frequent (33%) Frequent (79-30%) HP:0000190
23 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
24 coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000589
25 small face 59 32 frequent (33%) Frequent (79-30%) HP:0000274
26 central apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002871
27 behavioral abnormality 59 Very frequent (99-80%)
28 global developmental delay 59 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:

41
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. 38
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 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
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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