MCID: 7P2001
MIFTS: 17

7p22.1 Microduplication Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 7p22.1 Microduplication Syndrome

MalaCards integrated aliases for 7p22.1 Microduplication Syndrome:

Name: 7p22.1 Microduplication Syndrome 58
Trisomy 7p22.1 58
Dup(7)(p22.1) 58

Characteristics:

Orphanet epidemiological data:

58
7p22.1 microduplication syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for 7p22.1 Microduplication Syndrome

MalaCards based summary : 7p22.1 Microduplication Syndrome, also known as trisomy 7p22.1, is related to hypertelorism and cryptorchidism, unilateral or bilateral. An important gene associated with 7p22.1 Microduplication Syndrome is ACTB (Actin Beta). Affiliated tissues include heart and kidney, and related phenotypes are macrocephaly and global developmental delay

Related Diseases for 7p22.1 Microduplication Syndrome

Diseases related to 7p22.1 Microduplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertelorism 10.1
2 cryptorchidism, unilateral or bilateral 10.1
3 alacrima, achalasia, and mental retardation syndrome 10.1

Symptoms & Phenotypes for 7p22.1 Microduplication Syndrome

Human phenotypes related to 7p22.1 Microduplication Syndrome:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
5 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
6 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
7 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
8 abnormality of the kidney 58 31 hallmark (90%) Very frequent (99-80%) HP:0000077
9 abnormal heart morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001627
10 abnormality of the outer ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000356
11 abnormality of the skeletal system 58 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:

40
Heart, Kidney

Publications for 7p22.1 Microduplication Syndrome

Articles related to 7p22.1 Microduplication Syndrome:

# Title Authors PMID Year
1
7p22.1 microduplication syndrome: Refinement of the critical region. 61
27866048 2017
2
7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature. 61
26297194 2015
3
Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay. 61
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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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