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HJMD
MCID: HYP332
MIFTS: 40

Hypotrichosis, Congenital, with Juvenile Macular Dystrophy (HJMD)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

Name: Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 57 13 40 73
Hjmd 57 12 59 75
Congenital Hypotrichosis with Juvenile Macular Dystrophy 12 37 15
Hypotrichosis with Cone-Rod Dystrophy 57 12 75
Hypotrichosis Congenital with Juvenile Macular Dystrophy 75
Hypotrichosis with Juvenile Macular Degeneration 59
Hypotrichosis with Juvenile Macular Dystrophy 59

Characteristics:

Orphanet epidemiological data:

59
hypotrichosis with juvenile macular degeneration
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypotrichosis, congenital, with juvenile macular dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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Summaries for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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UniProtKB/Swiss-Prot : 75 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 hypotrichosis. 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 skin, bone and eye, and related phenotypes are nystagmus and skeletal dysplasia

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

Wikipedia : 76 Hypotrichosis with juvenile macular dystrophy (HJMD or CDH3) is an extremely rare congenital disease... more...

Description from OMIM: 601553
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Related Diseases for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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Diseases related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 juvenile macular degeneration and hypotrichosis 11.6
2 hypotrichosis 10.2
3 deafness, autosomal recessive 89 10.0 CDH15 CDH3
4 hair disease 10.0 CDH15 CDH3
5 cervix small cell carcinoma 9.9 CDH17 CDH2
6 spindle cell synovial sarcoma 9.9 CDH17 CDH2
7 crohn's colitis 9.9 CDH1 CDH3
8 blepharocheilodontic syndrome 1 9.9 CDH1 CDH17
9 infiltrative basal cell carcinoma 9.9 CDH1 CDH17
10 diffuse gastric cancer 9.9 CDH1 CDH3
11 tongue cancer 9.8 CDH1 CDH2
12 tongue squamous cell carcinoma 9.8 CDH1 CDH2
13 gastrointestinal system cancer 9.8 CDH1 CDH2
14 pancreas adenocarcinoma 9.7 CDH1 CDH2
15 tooth agenesis 9.7 CDH1 CDH3
16 large intestine cancer 9.6 CDH1 CDH17 CDH2

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



Diseases related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy
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Symptoms & Phenotypes for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 skeletal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002652
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
5 hyperkeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000962
6 melanocytic nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000995
7 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
8 fine hair 59 32 frequent (33%) Frequent (79-30%) HP:0002213
9 macular degeneration 59 32 hallmark (90%) Very frequent (99-80%) HP:0000608
10 abnormality of macular pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008002
11 immunologic hypersensitivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0100326
12 freckling 59 32 occasional (7.5%) Occasional (29-5%) HP:0001480
13 pili torti 59 32 frequent (33%) Frequent (79-30%) HP:0003777
14 brittle hair 59 32 frequent (33%) Frequent (79-30%) HP:0002299
15 abnormality of limb bone morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002813
16 abnormality of the dentition 32 HP:0000164
17 abnormality of the nail 32 HP:0001597
18 reduced visual acuity 32 HP:0007663
19 hypotrichosis 32 HP:0001006
20 macular dystrophy 32 HP:0007754
21 cone/cone-rod dystrophy 32 HP:0000548
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Drugs & Therapeutics for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

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Genetic Tests for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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Anatomical Context for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

41
Skin, Bone, Eye, Tongue, Pancreas, Cervix
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Publications for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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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
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Variations for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

75
# 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.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
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Expression for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

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

37
# 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 17)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.4 CDH1 CDH15 CDH17 CDH2 CDH3
2
Nanog in Mammalian ESC Pluripotency 64
Show member pathways
 12.96 CDH1 CDH15 CDH17 CDH2 CDH3
3
Cell junction organization 66
Show member pathways
 12.45 CDH1 CDH15 CDH17 CDH2 CDH3
4
WNT Signaling 64
12.16 CDH1 CDH15 CDH17 CDH2 CDH3
5
Cell adhesion molecules (CAMs) 37
11.95 CDH1 CDH15 CDH2 CDH3
6
Adhesion 4
11.85 CDH1 CDH17 CDH2 CDH3
7
Cell cycle Cell cycle (generic schema) 22
Show member pathways
 11.73 CDH1 CDH15 CDH17 CDH2 CDH3
8
G-protein signaling N-RAS regulation pathway 22
Show member pathways
 11.61 CDH1 CDH15 CDH17 CDH2 CDH3
9
Neural Crest Differentiation 1
11.58 CDH1 CDH2
10
S-1P Stimulated Signaling 64
11.54 CDH1 CDH15 CDH17 CDH2 CDH3
11
Presenilin-Mediated Signaling 64
11.51 CDH1 CDH15 CDH17 CDH2 CDH3
12
Myogenesis 66
Show member pathways
 11.32 CDH15 CDH2
13
FGF signaling pathway 1
11.22 CDH1 CDH2
14
Cell adhesion_Cadherin-mediated cell adhesion 22
11.22 CDH1 CDH15 CDH2 CDH3
15
G12-G13 in Cellular Signaling 64
11.11 CDH1 CDH15 CDH17 CDH2 CDH3
16
TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition 1
10.78 CDH1 CDH2
17
G-protein signaling_Rap2B regulation pathway 22
10.78 CDH1 CDH15 CDH17 CDH2 CDH3
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GO Terms for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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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
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Sources for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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