PVNH5
MCID: CHR664
MIFTS: 11

Chromosome 5q14.3 Deletion Syndrome, Distal (PVNH5)

Aliases & Classifications for Chromosome 5q14.3 Deletion Syndrome, Distal

MalaCards integrated aliases for Chromosome 5q14.3 Deletion Syndrome, Distal:

Name: Chromosome 5q14.3 Deletion Syndrome, Distal 57 29
Heterotopia, Periventricular, Associated with Chromosome 5q Deletion 57 70
Periventricular Nodular Heterotopia 5 57 13
Periventricular Nodular Heterotopia 5; Pvnh5 57
Pvnh5 57

External Ids:

OMIM® 57 612881
OMIM Phenotypic Series 57 PS300049
MedGen 41 C2752071
UMLS 70 C2752071

Summaries for Chromosome 5q14.3 Deletion Syndrome, Distal

MalaCards based summary : Chromosome 5q14.3 Deletion Syndrome, Distal, also known as heterotopia, periventricular, associated with chromosome 5q deletion, is related to periventricular nodular heterotopia. An important gene associated with Chromosome 5q14.3 Deletion Syndrome, Distal is PVNH5 (Periventricular Nodular Heterotopia 5).

More information from OMIM: 612881 PS300049

Related Diseases for Chromosome 5q14.3 Deletion Syndrome, Distal

Diseases related to Chromosome 5q14.3 Deletion Syndrome, Distal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 periventricular nodular heterotopia 11.0

Symptoms & Phenotypes for Chromosome 5q14.3 Deletion Syndrome, Distal

Clinical features from OMIM®:

612881 (Updated 20-May-2021)

Drugs & Therapeutics for Chromosome 5q14.3 Deletion Syndrome, Distal

Search Clinical Trials , NIH Clinical Center for Chromosome 5q14.3 Deletion Syndrome, Distal

Genetic Tests for Chromosome 5q14.3 Deletion Syndrome, Distal

Genetic tests related to Chromosome 5q14.3 Deletion Syndrome, Distal:

# Genetic test Affiliating Genes
1 Chromosome 5q14.3 Deletion Syndrome, Distal 29

Anatomical Context for Chromosome 5q14.3 Deletion Syndrome, Distal

Publications for Chromosome 5q14.3 Deletion Syndrome, Distal

Articles related to Chromosome 5q14.3 Deletion Syndrome, Distal:

# Title Authors PMID Year
1
NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. 57
23300014 2013
2
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. 57
19592390 2010
3
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder. 57
19876902 2009
4
NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness. 57
19353646 2009
5
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. 57
19073947 2009

Variations for Chromosome 5q14.3 Deletion Syndrome, Distal

Expression for Chromosome 5q14.3 Deletion Syndrome, Distal

Search GEO for disease gene expression data for Chromosome 5q14.3 Deletion Syndrome, Distal.

Pathways for Chromosome 5q14.3 Deletion Syndrome, Distal

GO Terms for Chromosome 5q14.3 Deletion Syndrome, Distal

Sources for Chromosome 5q14.3 Deletion Syndrome, Distal

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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