MCID: 1P2001
MIFTS: 16

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 59
Monosomy 1p21.3 59
Del(1)p(21.3) 59

Characteristics:

Orphanet epidemiological data:

59
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. An important gene associated with 1p21.3 Microdeletion Syndrome is DPYD (Dihydropyrimidine Dehydrogenase). Affiliated tissues include eye, and related phenotypes are macrocephaly and obesity

Related Diseases for 1p21.3 Microdeletion Syndrome

Symptoms & Phenotypes for 1p21.3 Microdeletion Syndrome

Human phenotypes related to 1p21.3 Microdeletion Syndrome:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
5 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
6 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
7 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
8 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
9 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
10 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
11 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
12 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
13 shyness 59 32 hallmark (90%) Very frequent (99-80%) HP:0100962
14 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
15 joint hypermobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001382
16 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
17 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
18 astigmatism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000483
19 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
20 self-mutilation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000742
21 abnormal eating behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0100738
22 long ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0400004
23 intellectual disability 59 Very frequent (99-80%)
24 self-injurious behavior 59 Occasional (29-5%)
25 behavioral abnormality 59 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:

41
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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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