MCID: 1P2001
MIFTS: 16

1p21.3 Microdeletion Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for 1p21.3 Microdeletion Syndrome

MalaCards integrated aliases for 1p21.3 Microdeletion Syndrome:

Name: 1p21.3 Microdeletion Syndrome 55
Monosomy 1p21.3 55
Del(1)p(21.3) 55

Characteristics:

Orphanet epidemiological data:

55
1p21.3 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of death: normal life expectancy;

Classifications:



Summaries for 1p21.3 Microdeletion Syndrome

MalaCards based summary : 1p21.3 Microdeletion Syndrome, is also known as monosomy 1p21.3, and has symptoms including wide mouth, macrocephaly and full cheeks. An important gene associated with 1p21.3 Microdeletion Syndrome is DPYD (Dihydropyrimidine Dehydrogenase). Affiliated tissues include eye.

Related Diseases for 1p21.3 Microdeletion Syndrome

Symptoms & Phenotypes for 1p21.3 Microdeletion Syndrome

Human phenotypes related to 1p21.3 Microdeletion Syndrome:

55 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000154
2 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
3 full cheeks 55 31 frequent (33%) Frequent (79-30%) HP:0000293
4 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
5 broad nasal tip 55 31 frequent (33%) Frequent (79-30%) HP:0000455
6 astigmatism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000483
7 deeply set eye 55 31 frequent (33%) Frequent (79-30%) HP:0000490
8 abnormality of vision 55 31 hallmark (90%) Very frequent (99-80%) HP:0000504
9 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
10 upslanted palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0000582
11 aggressive behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0000718
12 autistic behavior 55 31 frequent (33%) Frequent (79-30%) HP:0000729
13 self-mutilation 55 31 occasional (7.5%) Occasional (29-5%) HP:0000742
14 delayed speech and language development 55 31 frequent (33%) Frequent (79-30%) HP:0000750
15 intellectual disability, mild 55 31 hallmark (90%) Very frequent (99-80%) HP:0001256
16 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
17 joint hypermobility 55 31 occasional (7.5%) Occasional (29-5%) HP:0001382
18 obesity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001513
19 short nose 55 31 frequent (33%) Frequent (79-30%) HP:0003196
20 abnormal eating behavior 55 31 hallmark (90%) Very frequent (99-80%) HP:0100738
21 shyness 55 31 hallmark (90%) Very frequent (99-80%) HP:0100962
22 long ear 55 31 hallmark (90%) Very frequent (99-80%) HP:0400004
23 behavioral abnormality 55 Frequent (79-30%)
24 intellectual disability 55 Very frequent (99-80%)
25 self-injurious behavior 55 Occasional (29-5%)

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:

38
Eye

Publications for 1p21.3 Microdeletion Syndrome

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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