DUP
MCID: XQ1001
MIFTS: 12

Xq12-Q13.3 Duplication Syndrome (DUP)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Xq12-Q13.3 Duplication Syndrome

MalaCards integrated aliases for Xq12-Q13.3 Duplication Syndrome:

Name: Xq12-Q13.3 Duplication Syndrome 58
Dup 58

Characteristics:

Orphanet epidemiological data:

58
xq12-q13.3 duplication syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Xq12-Q13.3 Duplication Syndrome

MalaCards based summary : Xq12-Q13.3 Duplication Syndrome, is also known as dup. Related phenotypes are intellectual disability and depressed nasal bridge

Related Diseases for Xq12-Q13.3 Duplication Syndrome

Symptoms & Phenotypes for Xq12-Q13.3 Duplication Syndrome

Human phenotypes related to Xq12-Q13.3 Duplication Syndrome:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 abnormality of visual evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0000649
9 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
10 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
11 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
12 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
13 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
14 impaired pain sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007328
15 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
16 eczema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000964
17 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
18 cutaneous finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0010554
19 anterior creases of earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009908
20 moderate global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011343
21 hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002079
22 optic disc pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000543
23 autistic behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000729
24 generalized amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003700
25 2-3 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004691
26 hypsarrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002521
27 agitation 58 31 hallmark (90%) Very frequent (99-80%) HP:0000713
28 low alkaline phosphatase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003282
29 numerous nevi 58 31 hallmark (90%) Very frequent (99-80%) HP:0001054
30 cleft earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0011265
31 abnormal basal ganglia mri signal intensity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012751
32 decreased serum insulin-like growth factor 1 58 31 hallmark (90%) Very frequent (99-80%) HP:0030353
33 bulimia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100739
34 recurrent upper respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0002788
35 generalized myoclonic seizure 31 frequent (33%) HP:0002123
36 global developmental delay 58 Very frequent (99-80%)
37 behavioral abnormality 58 Very frequent (99-80%)
38 generalized myoclonic seizures 58 Frequent (79-30%)

Drugs & Therapeutics for Xq12-Q13.3 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Xq12-Q13.3 Duplication Syndrome

Genetic Tests for Xq12-Q13.3 Duplication Syndrome

Anatomical Context for Xq12-Q13.3 Duplication Syndrome

Publications for Xq12-Q13.3 Duplication Syndrome

Variations for Xq12-Q13.3 Duplication Syndrome

Expression for Xq12-Q13.3 Duplication Syndrome

Search GEO for disease gene expression data for Xq12-Q13.3 Duplication Syndrome.

Pathways for Xq12-Q13.3 Duplication Syndrome

GO Terms for Xq12-Q13.3 Duplication Syndrome

Sources for Xq12-Q13.3 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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