DUP
MCID: XP2002
MIFTS: 15

Xp22.13p22.2 Duplication Syndrome (DUP)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Xp22.13p22.2 Duplication Syndrome

MalaCards integrated aliases for Xp22.13p22.2 Duplication Syndrome:

Name: Xp22.13p22.2 Duplication Syndrome 58
Duplication Xp22 58
Dup 58

Characteristics:

Orphanet epidemiological data:

58
xp22.13p22.2 duplication syndrome
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: adult;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Xp22.13p22.2 Duplication Syndrome

MalaCards based summary : Xp22.13p22.2 Duplication Syndrome, is also known as duplication xp22. Affiliated tissues include ovary, and related phenotypes are hypertelorism and short neck

Related Diseases for Xp22.13p22.2 Duplication Syndrome

Symptoms & Phenotypes for Xp22.13p22.2 Duplication Syndrome

Human phenotypes related to Xp22.13p22.2 Duplication Syndrome:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
4 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
5 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
6 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
7 macroorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000053
8 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
9 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
10 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
11 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
12 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
13 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
14 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
15 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
16 2-3 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004691
17 congenital diaphragmatic hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000776
18 high pitched voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001620
19 moderate global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011343
20 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
21 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
22 truncal obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001956
23 slowed slurred speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0007164
24 flared nostrils 58 31 hallmark (90%) Very frequent (99-80%) HP:0000454
25 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
26 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
27 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
28 recurrent upper respiratory tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002788
29 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
30 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
31 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
32 polycystic ovaries 58 31 occasional (7.5%) Occasional (29-5%) HP:0000147
33 high anterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0009890
34 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540

Drugs & Therapeutics for Xp22.13p22.2 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Xp22.13p22.2 Duplication Syndrome

Genetic Tests for Xp22.13p22.2 Duplication Syndrome

Anatomical Context for Xp22.13p22.2 Duplication Syndrome

MalaCards organs/tissues related to Xp22.13p22.2 Duplication Syndrome:

40
Ovary

Publications for Xp22.13p22.2 Duplication Syndrome

Articles related to Xp22.13p22.2 Duplication Syndrome:

# Title Authors PMID Year
1
X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter. 61
1605229 1992

Variations for Xp22.13p22.2 Duplication Syndrome

Expression for Xp22.13p22.2 Duplication Syndrome

Search GEO for disease gene expression data for Xp22.13p22.2 Duplication Syndrome.

Pathways for Xp22.13p22.2 Duplication Syndrome

GO Terms for Xp22.13p22.2 Duplication Syndrome

Sources for Xp22.13p22.2 Duplication 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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