MCID: 1P2001
MIFTS: 15

1p21.3 Microdeletion Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 1p21.3 Microdeletion Syndrome

MalaCards integrated aliases for 1p21.3 Microdeletion Syndrome:

Name: 1p21.3 Microdeletion Syndrome 58
Monosomy 1p21.3 58
Del(1)(p21.3) 58

Characteristics:

Orphanet epidemiological data:

58
1p21.3 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for 1p21.3 Microdeletion Syndrome

MalaCards based summary : 1p21.3 Microdeletion Syndrome, is also known as monosomy 1p21.3. An important gene associated with 1p21.3 Microdeletion Syndrome is DPYD (Dihydropyrimidine Dehydrogenase). Affiliated tissues include eye, and related phenotypes are global developmental delay and intellectual disability, mild

Related Diseases for 1p21.3 Microdeletion Syndrome

Symptoms & Phenotypes for 1p21.3 Microdeletion Syndrome

Human phenotypes related to 1p21.3 Microdeletion Syndrome:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
4 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
5 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
6 astigmatism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000483
7 long ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0400004
8 shyness 58 31 hallmark (90%) Very frequent (99-80%) HP:0100962
9 abnormal eating behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0100738
10 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
11 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
12 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
13 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
14 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
15 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
16 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
17 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
18 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
19 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
20 joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001382
21 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
22 self-mutilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000742
23 intellectual disability 58 Very frequent (99-80%)
24 self-injurious behavior 58 Occasional (29-5%)
25 behavioral abnormality 58 Frequent (79-30%)

Drugs & Therapeutics for 1p21.3 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 1p21.3 Microdeletion Syndrome

Genetic Tests for 1p21.3 Microdeletion Syndrome

Anatomical Context for 1p21.3 Microdeletion Syndrome

MalaCards organs/tissues related to 1p21.3 Microdeletion Syndrome:

40
Eye

Publications for 1p21.3 Microdeletion Syndrome

Articles related to 1p21.3 Microdeletion Syndrome:

# Title Authors PMID Year
1
Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma. 61
28123791 2015

Variations for 1p21.3 Microdeletion Syndrome

Expression for 1p21.3 Microdeletion Syndrome

Search GEO for disease gene expression data for 1p21.3 Microdeletion Syndrome.

Pathways for 1p21.3 Microdeletion Syndrome

GO Terms for 1p21.3 Microdeletion Syndrome

Sources for 1p21.3 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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