MCID: JVN017
MIFTS: 7

Juvenile Macular Degeneration and Hypotrichosis

Categories: Rare diseases

Aliases & Classifications for Juvenile Macular Degeneration and Hypotrichosis

MalaCards integrated aliases for Juvenile Macular Degeneration and Hypotrichosis:

Name: Juvenile Macular Degeneration and Hypotrichosis 53 29 6
Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 53 73
Juvenile Macular Dystrophy and Congenital Hypotrichosis 53
Hjmd 53

Classifications:



External Ids:

UMLS 73 C1832162

Summaries for Juvenile Macular Degeneration and Hypotrichosis

MalaCards based summary : Juvenile Macular Degeneration and Hypotrichosis, also known as hypotrichosis, congenital, with juvenile macular dystrophy, is related to hypotrichosis, congenital, with juvenile macular dystrophy. An important gene associated with Juvenile Macular Degeneration and Hypotrichosis is CDH3 (Cadherin 3).

Related Diseases for Juvenile Macular Degeneration and Hypotrichosis

Diseases related to Juvenile Macular Degeneration and Hypotrichosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypotrichosis, congenital, with juvenile macular dystrophy 12.6

Symptoms & Phenotypes for Juvenile Macular Degeneration and Hypotrichosis

Drugs & Therapeutics for Juvenile Macular Degeneration and Hypotrichosis

Search Clinical Trials , NIH Clinical Center for Juvenile Macular Degeneration and Hypotrichosis

Genetic Tests for Juvenile Macular Degeneration and Hypotrichosis

Genetic tests related to Juvenile Macular Degeneration and Hypotrichosis:

# Genetic test Affiliating Genes
1 Juvenile Macular Degeneration and Hypotrichosis 29 CDH3

Anatomical Context for Juvenile Macular Degeneration and Hypotrichosis

Publications for Juvenile Macular Degeneration and Hypotrichosis

Variations for Juvenile Macular Degeneration and Hypotrichosis

ClinVar genetic disease variations for Juvenile Macular Degeneration and Hypotrichosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH3 NM_001793.5(CDH3): c.981delG (p.Met327Ilefs) deletion Pathogenic rs724159984 GRCh38 Chromosome 16, 68681081: 68681081
2 CDH3 NM_001793.5(CDH3): c.981delG (p.Met327Ilefs) deletion Pathogenic rs724159984 GRCh37 Chromosome 16, 68714984: 68714984
3 CDH3 NM_001793.5(CDH3): c.1508G> A (p.Arg503His) single nucleotide variant Pathogenic rs121434542 GRCh37 Chromosome 16, 68719191: 68719191
4 CDH3 NM_001793.5(CDH3): c.1508G> A (p.Arg503His) single nucleotide variant Pathogenic rs121434542 GRCh38 Chromosome 16, 68685288: 68685288
5 CDH3 NM_001793.5(CDH3): c.1085G> A (p.Trp362Ter) single nucleotide variant Pathogenic rs755910254 GRCh37 Chromosome 16, 68716293: 68716293
6 CDH3 NM_001793.5(CDH3): c.1085G> A (p.Trp362Ter) single nucleotide variant Pathogenic rs755910254 GRCh38 Chromosome 16, 68682390: 68682390

Expression for Juvenile Macular Degeneration and Hypotrichosis

Search GEO for disease gene expression data for Juvenile Macular Degeneration and Hypotrichosis.

Pathways for Juvenile Macular Degeneration and Hypotrichosis

GO Terms for Juvenile Macular Degeneration and Hypotrichosis

Sources for Juvenile Macular Degeneration and Hypotrichosis

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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