PVNH5
MCID: CHR664
MIFTS: 8

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 58 30
Heterotopia, Periventricular, Associated with Chromosome 5q Deletion 58 74
Periventricular Nodular Heterotopia 5 58 13
Periventricular Nodular Heterotopia 5; Pvnh5 58
Pvnh5 58

External Ids:

OMIM 58 612881
UMLS 74 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).

Description from OMIM: 612881

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 11.1

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

Clinical features from OMIM:

612881

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 30

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

Publications for Chromosome 5q14.3 Deletion Syndrome, Distal

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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