MCID: 7P2001
MIFTS: 18

7p22.1 Microduplication Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for 7p22.1 Microduplication Syndrome

MalaCards integrated aliases for 7p22.1 Microduplication Syndrome:

Name: 7p22.1 Microduplication Syndrome 59
Trisomy 7p22.1 59
Dup(7)(p22.1) 59

Characteristics:

Orphanet epidemiological data:

59
7p22.1 microduplication syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for 7p22.1 Microduplication Syndrome

MalaCards based summary : 7p22.1 Microduplication Syndrome, is also known as trisomy 7p22.1. An important gene associated with 7p22.1 Microduplication Syndrome is ACTB (Actin Beta). Affiliated tissues include kidney and heart, and related phenotypes are cryptorchidism and abnormality of the kidney

Related Diseases for 7p22.1 Microduplication Syndrome

Symptoms & Phenotypes for 7p22.1 Microduplication Syndrome

Human phenotypes related to 7p22.1 Microduplication Syndrome:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
2 abnormality of the kidney 59 32 hallmark (90%) Very frequent (99-80%) HP:0000077
3 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
4 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
5 abnormality of the outer ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000356
6 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
9 abnormal heart morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0001627
10 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
11 abnormality of the skeletal system 59 Very frequent (99-80%)

Drugs & Therapeutics for 7p22.1 Microduplication Syndrome

Search Clinical Trials , NIH Clinical Center for 7p22.1 Microduplication Syndrome

Genetic Tests for 7p22.1 Microduplication Syndrome

Anatomical Context for 7p22.1 Microduplication Syndrome

MalaCards organs/tissues related to 7p22.1 Microduplication Syndrome:

41
Kidney, Heart

Publications for 7p22.1 Microduplication Syndrome

Articles related to 7p22.1 Microduplication Syndrome:

# Title Authors Year
1
7p22.1 microduplication syndrome: Refinement of the critical region. ( 27866048 )
2017
2
7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature. ( 26297194 )
2015
3
Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay. ( 25124455 )
2014

Variations for 7p22.1 Microduplication Syndrome

Expression for 7p22.1 Microduplication Syndrome

Search GEO for disease gene expression data for 7p22.1 Microduplication Syndrome.

Pathways for 7p22.1 Microduplication Syndrome

GO Terms for 7p22.1 Microduplication Syndrome

Sources for 7p22.1 Microduplication 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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