HJMD
MCID: HYP332
MIFTS: 40

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 56 52 13 39 71
Hjmd 56 12 52 58 73
Congenital Hypotrichosis with Juvenile Macular Dystrophy 12 36 15
Juvenile Macular Degeneration and Hypotrichosis 52 29 6
Hypotrichosis with Cone-Rod Dystrophy 56 12 73
Hypotrichosis Congenital with Juvenile Macular Dystrophy 73
Juvenile Macular Dystrophy and Congenital Hypotrichosis 52
Hypotrichosis with Juvenile Macular Degeneration 58
Hypotrichosis with Juvenile Macular Dystrophy 58

Characteristics:

Orphanet epidemiological data:

58
hypotrichosis with juvenile macular degeneration
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hypotrichosis, congenital, with juvenile macular dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110711
OMIM 56 601553
KEGG 36 H00785
MeSH 43 D007039
ICD10 via Orphanet 33 Q84.0
UMLS via Orphanet 72 C1832162
Orphanet 58 ORPHA1573
MedGen 41 C1832162
UMLS 71 C1832162

Summaries for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

KEGG : 36 Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair from birth and resulting hair loss associated with progressive macular degeneration leading to blindness not later than the third decade of life. The causative gene is CDH3 encoding P-cadherin.

MalaCards based summary : Hypotrichosis, Congenital, with Juvenile Macular Dystrophy, also known as hjmd, is related to darier-white disease and keratosis. 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 Cell adhesion_Cadherin-mediated cell adhesion. Affiliated tissues include skin, eye and bone, 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.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Hypotrichosis with juvenile macular dystrophy (HJMD or CDH3) is an extremely rare congenital disease... more...

More information from OMIM: 601553

Related Diseases for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 darier-white disease 30.3 DSG4 CDH3
2 keratosis 29.3 MBTPS2 DSG4
3 hypotrichosis 28.0 MBTPS2 LPAR6 LIPH DSG4 CDSN CDH3
4 yemenite deaf-blind hypopigmentation syndrome 10.7
5 autosomal recessive disease 10.7
6 macular degeneration, age-related, 1 10.6
7 split-hand/foot malformation 1 10.4
8 ectodermal dysplasia 10.4
9 isolated split hand-split foot malformation 10.4
10 cone-rod dystrophy 2 10.3
11 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 10.2
12 retinitis pigmentosa 10.2
13 neuroretinitis 10.2
14 telogen effluvium 10.2
15 retinitis 10.2
16 eye disease 10.2
17 macular holes 10.2
18 retinal degeneration 10.2
19 erythrokeratoderma ''en cocardes'' 10.2
20 keratosis follicularis spinulosa decalvans 10.2
21 pili torti 10.2
22 deafness, autosomal dominant 40 10.1 CDH3 CDH15
23 hemophagocytic lymphohistiocytosis, familial, 2 10.1 CDH3 CDH15
24 benign chronic pemphigus 10.1 DSG4 CDH3
25 pemphigus 10.0 DSG4 CDH3
26 pemphigus vulgaris, familial 10.0 DSG4 CDH3
27 woolly hair syndrome 9.8 LPAR6 LIPH
28 hypotrichosis 11 9.8 LPAR6 LIPH
29 hypotrichosis 3 9.8 LPAR6 LIPH
30 hypotrichosis 6 9.5 LPAR6 LIPH DSG4
31 hypotrichosis 13 9.5 LPAR6 LIPH DSG4
32 palmoplantar keratosis 9.5 MBTPS2 DSG4
33 hypotrichosis 4 9.4 LPAR6 LIPH CDSN
34 hypotrichosis 7 9.2 LPAR6 LIPH DSG4 CDSN
35 hypotrichosis simplex 9.2 LPAR6 LIPH DSG4 CDSN
36 monilethrix 9.2 LPAR6 LIPH DSG4 CDSN
37 atrichia with papular lesions 9.1 MBTPS2 LIPH ERICH6B DSG4
38 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 8.9 LPAR6 LIPH DSG4 CDSN CDH15
39 hypotrichosis 8 8.9 LPAR6 LIPH DSG4 CDSN CDH15
40 hair disease 8.3 MBTPS2 LPAR6 LIPH DSG4 CDSN CDH3

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:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
3 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
4 macular degeneration 58 31 hallmark (90%) Very frequent (99-80%) HP:0000608
5 abnormality of macular pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008002
6 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
7 pili torti 58 31 very rare (1%) Frequent (79-30%) HP:0003777
8 brittle hair 58 31 frequent (33%) Frequent (79-30%) HP:0002299
9 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
10 skeletal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002652
11 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
12 melanocytic nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000995
13 freckling 58 31 occasional (7.5%) Occasional (29-5%) HP:0001480
14 immunologic hypersensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100326
15 abnormality of limb bone morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002813
16 hypotrichosis 31 very rare (1%) HP:0001006
17 macular dystrophy 31 HP:0007754
18 reduced terminal:vellus ratio 31 HP:0032497

Symptoms via clinical synopsis from OMIM:

56
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

Genetic tests related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy:

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

Anatomical Context for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

40
Skin, Eye, Bone

Publications for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

(show all 23)
# Title Authors PMID Year
1
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. 56 6 61
11544476 2001
2
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. 56 6
12445216 2002
3
Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function. 56 61
16650681 2006
4
Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance. 56
7648037 1995
5
[Congenital dystrophy of the pigment layer of the posterior pole with congenital total hypotrichosis (author's transl)]. 56
7230692 1981
6
Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing. 61
31560841 2019
7
Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy. 61
31645385 2019
8
A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia. 61
31431935 2019
9
CDH3 gene related hypotrichosis and juvenile macular dystrophy - A case with a novel mutation. 61
29260097 2017
10
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. 61
27386845 2016
11
Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy. 61
27157923 2016
12
The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle. 61
25707507 2015
13
Mimicking hair disorders by genetic manipulation of organ-cultured human hair follicles. 61
22971919 2012
14
P-cadherin regulates human hair growth and cycling via canonical Wnt signaling and transforming growth factor-β2. 61
22696062 2012
15
A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy. 61
20140736 2010
16
Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy. 61
20203473 2010
17
CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations. 61
22140374 2010
18
A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy. 61
19076794 2009
19
P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle. 61
18199584 2008
20
Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy. 61
17342797 2007
21
Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings. 61
16120155 2005
22
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). 61
15805154 2005
23
Histopathology of hypotrichosis with juvenile macular dystrophy. 61
15166507 2004

Variations for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDH3 NM_001793.6(CDH3):c.981del (p.Met327fs)deletion Pathogenic 17638 rs724159984 16:68714984-68714984 16:68681081-68681081
2 CDH3 NM_001793.6(CDH3):c.1508G>A (p.Arg503His)SNV Pathogenic 17639 rs121434542 16:68719191-68719191 16:68685288-68685288
3 CDH3 NM_001793.6(CDH3):c.1795+1G>CSNV Pathogenic 666275 16:68721640-68721640 16:68687737-68687737
4 CDH3 NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr)SNV Pathogenic 666276 16:68716271-68716271 16:68682368-68682368

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

73
# Symbol AA change Variation ID SNP ID
1 CDH3 p.Arg503His VAR_015422 rs121434542

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:

36
# 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:

# Super pathways Score Top Affiliating Genes
1 10.23 CDH3 CDH15

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 plasma membrane GO:0005886 9.8 LPAR6 LIPH DSG4 CNNM4 CDSN CDH3
2 cornified envelope GO:0001533 9.16 DSG4 CDSN
3 catenin complex GO:0016342 8.96 CDH3 CDH15
4 desmosome GO:0030057 8.62 DSG4 CDSN

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 9.56 DSG4 CDSN CDH3 CDH15
2 cell morphogenesis GO:0000902 9.46 CDH3 CDH15
3 keratinocyte differentiation GO:0030216 9.43 DSG4 CDSN
4 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.4 CDH3 CDH15
5 cell-cell junction assembly GO:0007043 9.37 CDH3 CDH15
6 adherens junction organization GO:0034332 9.32 CDH3 CDH15
7 cell-cell adhesion mediated by cadherin GO:0044331 9.16 CDH3 CDH15
8 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.13 DSG4 CDH3 CDH15
9 cell-cell adhesion GO:0098609 8.92 DSG4 CDSN CDH3 CDH15

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 8.62 CDH3 CDH15

Sources for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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