MCID: JVN017
MIFTS: 8

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 54 30 6
Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 54 74
Juvenile Macular Dystrophy and Congenital Hypotrichosis 54
Hjmd 54

Classifications:



External Ids:

UMLS 74 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 12.8

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 30 CDH3

Anatomical Context for Juvenile Macular Degeneration and Hypotrichosis

Publications for Juvenile Macular Degeneration and Hypotrichosis

Articles related to Juvenile Macular Degeneration and Hypotrichosis:

# Title Authors Year
1
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. ( 12445216 )
2002
2
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. ( 11544476 )
2001

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.981del (p.Met327Ilefs) deletion Pathogenic rs724159984 GRCh38 Chromosome 16, 68681081: 68681081
2 CDH3 NM_001793.5(CDH3): c.981del (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

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 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
51 NCIt
52 NDF-RT
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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