PVNH5
MCID: CHR664
MIFTS: 9

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 73
Periventricular Nodular Heterotopia 5 57 13
Periventricular Nodular Heterotopia 5; Pvnh5 57
Pvnh5 57

External Ids:

OMIM 57 612881
UMLS 73 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 29

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 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
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54 NINDS
55 Novoseek
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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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