HJMD
MCID: HYP332
MIFTS: 38

Hypotrichosis, Congenital, with Juvenile Macular Dystrophy (HJMD)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

MalaCards integrated aliases for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:

Name: Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 58 13 41 74
Hjmd 58 12 60 76
Congenital Hypotrichosis with Juvenile Macular Dystrophy 12 38 15
Hypotrichosis with Cone-Rod Dystrophy 58 12 76
Hypotrichosis Congenital with Juvenile Macular Dystrophy 76
Hypotrichosis with Juvenile Macular Degeneration 60
Hypotrichosis with Juvenile Macular Dystrophy 60

Characteristics:

Orphanet epidemiological data:

60
hypotrichosis with juvenile macular degeneration
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hypotrichosis, congenital, with juvenile macular dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110711
OMIM 58 601553
KEGG 38 H00785
MeSH 45 D007039
ICD10 via Orphanet 35 Q84.0
UMLS via Orphanet 75 C1832162
Orphanet 60 ORPHA1573
MedGen 43 C1832162
UMLS 74 C1832162

Summaries for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

UniProtKB/Swiss-Prot : 76 Hypotrichosis congenital with juvenile macular dystrophy: A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second to third decade of life.

MalaCards based summary : Hypotrichosis, Congenital, with Juvenile Macular Dystrophy, also known as hjmd, is related to juvenile macular degeneration and hypotrichosis and cone-rod dystrophy 2. An important gene associated with Hypotrichosis, Congenital, with Juvenile Macular Dystrophy is CDH3 (Cadherin 3), and among its related pathways/superpathways are Cell adhesion molecules (CAMs) and ERK Signaling. Affiliated tissues include bone, skin and eye, and related phenotypes are short stature and blindness

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal recessive mutation of CDH3 on chromosome 16q22.1.

Wikipedia : 77 Hypotrichosis with juvenile macular dystrophy (HJMD or CDH3) is an extremely rare congenital disease... more...

Description from OMIM: 601553

Related Diseases for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

Graphical network of the top 20 diseases related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:



Diseases related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

Symptoms & Phenotypes for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

Human phenotypes related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000618
3 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
4 macular degeneration 60 33 hallmark (90%) Very frequent (99-80%) HP:0000608
5 abnormality of macular pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008002
6 fine hair 60 33 frequent (33%) Frequent (79-30%) HP:0002213
7 pili torti 60 33 frequent (33%) Frequent (79-30%) HP:0003777
8 brittle hair 60 33 frequent (33%) Frequent (79-30%) HP:0002299
9 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
10 skeletal dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002652
11 hyperkeratosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000962
12 melanocytic nevus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000995
13 immunologic hypersensitivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0100326
14 freckling 60 33 occasional (7.5%) Occasional (29-5%) HP:0001480
15 abnormality of limb bone morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0002813
16 abnormality of the dentition 33 HP:0000164
17 abnormality of the nail 33 HP:0001597
18 hypotrichosis 33 HP:0001006
19 macular dystrophy 33 HP:0007754

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
blindness
decreased visual acuity
progressive juvenile macular dystrophy (onset 3-21 years)

Head And Neck Teeth:
normal teeth

Skin Nails Hair Hair:
pili torti
congenital hypotrichosis
fusiform beading of hair shaft

Skin Nails Hair Nails:
normal fingernails

Clinical features from OMIM:

601553

Drugs & Therapeutics for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

Search Clinical Trials , NIH Clinical Center for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

Genetic Tests for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

Anatomical Context for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

MalaCards organs/tissues related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:

42
Bone, Skin, Eye, Tongue, Cervix, Pancreas

Publications for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

Articles related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:

# Title Authors Year
1
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. ( 27386845 )
2016

Variations for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:

76
# Symbol AA change Variation ID SNP ID
1 CDH3 p.Arg503His VAR_015422 rs121434542

ClinVar genetic disease variations for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:

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 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

Search GEO for disease gene expression data for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy.

Pathways for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

Pathways related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy according to KEGG:

38
# Name Kegg Source Accession
1 Cell adhesion molecules (CAMs) hsa04514

Pathways related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 CDH1 CDH15 CDH17 CDH2 CDH3
2
Show member pathways
12.96 CDH1 CDH15 CDH17 CDH2 CDH3
3
Show member pathways
12.45 CDH1 CDH15 CDH17 CDH2 CDH3
4 12.16 CDH1 CDH15 CDH17 CDH2 CDH3
5 11.96 CDH1 CDH15 CDH2 CDH3
6 11.85 CDH1 CDH17 CDH2 CDH3
7
Show member pathways
11.73 CDH1 CDH15 CDH17 CDH2 CDH3
8
Show member pathways
11.61 CDH1 CDH15 CDH17 CDH2 CDH3
9 11.57 CDH1 CDH2
10 11.54 CDH1 CDH15 CDH17 CDH2 CDH3
11 11.51 CDH1 CDH15 CDH17 CDH2 CDH3
12 11.22 CDH1 CDH2
13 11.22 CDH1 CDH15 CDH2 CDH3
14 11.11 CDH1 CDH15 CDH17 CDH2 CDH3
15 10.78 CDH1 CDH2
16 10.78 CDH1 CDH15 CDH17 CDH2 CDH3

GO Terms for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

Cellular components related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.83 CDH1 CDH15 CDH17 CDH2 CDH3
2 plasma membrane GO:0005886 9.72 CDH1 CDH15 CDH17 CDH2 CDH3
3 cell surface GO:0009986 9.55 CDH1 CDH15 CDH17 CDH2 CDH3
4 cell junction GO:0030054 9.54 CDH1 CDH17 CDH2
5 lamellipodium GO:0030027 9.4 CDH1 CDH2
6 cell-cell adherens junction GO:0005913 9.35 CDH1 CDH15 CDH17 CDH2 CDH3
7 cortical actin cytoskeleton GO:0030864 9.26 CDH1 CDH2
8 catenin complex GO:0016342 9.02 CDH1 CDH15 CDH17 CDH2 CDH3

Biological processes related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.8 CDH1 CDH15 CDH17 CDH2 CDH3
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.77 CDH1 CDH15 CDH17 CDH2 CDH3
3 cell-cell adhesion GO:0098609 9.72 CDH1 CDH15 CDH17 CDH2 CDH3
4 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.65 CDH1 CDH15 CDH17 CDH2 CDH3
5 cell-cell junction assembly GO:0007043 9.55 CDH1 CDH15 CDH17 CDH2 CDH3
6 protein localization to plasma membrane GO:0072659 9.48 CDH1 CDH2
7 synapse assembly GO:0007416 9.46 CDH1 CDH2
8 positive regulation of muscle cell differentiation GO:0051149 9.43 CDH15 CDH2
9 adherens junction organization GO:0034332 9.35 CDH1 CDH15 CDH17 CDH2 CDH3
10 cell-cell adhesion mediated by cadherin GO:0044331 9.02 CDH1 CDH15 CDH17 CDH2 CDH3

Molecular functions related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.77 CDH1 CDH15 CDH17 CDH2 CDH3
2 protein homodimerization activity GO:0042803 9.65 CDH1 CDH15 CDH17 CDH2 CDH3
3 calcium ion binding GO:0005509 9.55 CDH1 CDH15 CDH17 CDH2 CDH3
4 beta-catenin binding GO:0008013 9.4 CDH1 CDH2
5 cadherin binding GO:0045296 9.35 CDH1 CDH15 CDH17 CDH2 CDH3
6 gamma-catenin binding GO:0045295 9.32 CDH1 CDH2
7 cytoskeletal protein binding GO:0008092 9.02 CDH1 CDH15 CDH17 CDH2 CDH3

Sources for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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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