HJMD
MCID: HYP332
MIFTS: 42

Hypotrichosis, Congenital, with Juvenile Macular Dystrophy (HJMD)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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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 57 19 12 38 71
Hjmd 57 11 19 58 73
Congenital Hypotrichosis with Juvenile Macular Dystrophy 11 28 5 14
Hypotrichosis with Juvenile Macular Dystrophy 58 5 75
Hypotrichosis with Cone-Rod Dystrophy 57 11 73
Hypotrichosis Congenital with Juvenile Macular Dystrophy 73
Juvenile Macular Dystrophy and Congenital Hypotrichosis 19
Hypotrichosis with Juvenile Macular Degeneration 58
Juvenile Macular Degeneration and Hypotrichosis 19

Characteristics:


Inheritance:

Hypotrichosis, Congenital, with Juvenile Macular Dystrophy: Autosomal recessive 57
Hypotrichosis with Juvenile Macular Degeneration: Autosomal recessive 58

Prevelance:

Hypotrichosis with Juvenile Macular Degeneration: <1/1000000 (Worldwide) 58

Age Of Onset:

Hypotrichosis with Juvenile Macular Degeneration: Infancy,Neonatal 58

Classifications:

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


External Ids:

Disease Ontology 11 DOID:0110711
OMIM® 57 601553
MeSH 43 D007039
ICD10 via Orphanet 32 Q84.0
UMLS via Orphanet 72 C1832162
Orphanet 58 ORPHA1573
MedGen 40 C1832162
UMLS 71 C1832162

Summaries for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

GARD: 19 Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

MalaCards based summary: Hypotrichosis, Congenital, with Juvenile Macular Dystrophy, also known as hjmd, is related to darier-white disease and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome. An important gene associated with Hypotrichosis, Congenital, with Juvenile Macular Dystrophy is CDH3 (Cadherin 3), and among its related pathways/superpathways are Canonical Wnt Pathway and Cell adhesion_Cadherin-mediated cell adhesion. Affiliated tissues include skin, eye and bone, and related phenotypes are short stature and blindness

Orphanet: 58 Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A hypotrichosis that has material basis in a autosomal recessive mutation of CDH3 on chromosome 16q22.1.

Wikipedia: 75 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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 darier-white disease 30.3 DSG4 CDH3
2 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 30.0 ERICH6B DSG4 CDSN CDH3 CDH15
3 cone-rod dystrophy 2 29.6 TULP1 CNNM4 CDH3 CDH15
4 hypotrichosis 7 29.3 LPAR6 LIPH DSG4 CDSN
5 hypotrichosis 29.1 LPAR6 LIPH DSG4 CDSN CDH3
6 split-hand/foot malformation 1 10.5
7 split hand-foot malformation 10.5
8 ectodermal dysplasia 10.5
9 isolated split hand-split foot malformation 10.5
10 retinal disease 10.3
11 leber congenital amaurosis 4 10.2
12 dilution, pigmentary 10.2
13 pili torti, early-onset 10.2
14 retinitis pigmentosa 10.2
15 keratosis follicularis spinulosa decalvans 10.2
16 myopia 10.2
17 peripheral retinal degeneration 10.2
18 keratosis 10.2
19 telogen effluvium 10.2
20 retinitis 10.2
21 skin disease 10.2
22 eye disease 10.2
23 macular holes 10.2
24 retinal degeneration 10.2
25 alopecia 10.2
26 erythrokeratoderma ''en cocardes'' 10.2
27 stargardt disease 1 10.2
28 macular degeneration, age-related, 1 10.2
29 stargardt disease 10.2
30 craniofacial-deafness-hand syndrome 10.1 CDH3 CDH15
31 benign chronic pemphigus 10.1 DSG4 CDH3
32 pemphigus 10.0 DSG4 CDH3
33 cleft lip/palate-ectodermal dysplasia syndrome 10.0 DSG4 CDH3
34 pemphigus vulgaris, familial 9.9 DSG4 CDH3
35 woolly hair, autosomal recessive 3 9.7 LPAR6 LIPH
36 woolly hair, autosomal dominant 9.7 LPAR6 LIPH
37 hypotrichosis 3 9.7 LPAR6 LIPH
38 hypotrichosis 4 9.7 LPAR6 LIPH
39 achromatopsia 9.7 TULP1 CNNM4
40 fundus dystrophy 9.6 TULP1 CNNM4 CDH3 CDH15
41 hypotrichosis 6 9.5 LPAR6 LIPH DSG4
42 ectodermal dysplasia 4, hair/nail type 9.5 LPAR6 LIPH DSG4
43 hypotrichosis simplex 9.4 LPAR6 LIPH DSG4 CDH3
44 hypotrichosis 13 9.3 LPAR6 LIPH DSG4 CDSN
45 familial woolly hair syndrome 9.3 LPAR6 LIPH DSG4 CDSN
46 monilethrix 9.3 LPAR6 LIPH DSG4 CDSN
47 hypotrichosis 11 9.1 LPAR6 LIPH DSG4 CDSN CDH15
48 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.1 LPAR6 LIPH DSG4 CDSN CDH15
49 hair disease 9.1 LPAR6 LIPH DSG4 CDSN CDH3
50 hypotrichosis 8 9.1 LPAR6 LIPH DSG4 CDSN CDH15

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 30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
2 blindness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000618
3 sparse scalp hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002209
4 macular degeneration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000608
5 abnormality of macular pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008002
6 fine hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002213
7 pili torti 58 30 Very rare (1%) Frequent (79-30%)
HP:0003777
8 brittle hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002299
9 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
10 skeletal dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002652
11 hyperkeratosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000962
12 melanocytic nevus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000995
13 freckling 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001480
14 immunologic hypersensitivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100326
15 abnormality of limb bone morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002813
16 sparse hair 30 Very rare (1%) HP:0008070
17 macular dystrophy 30 HP:0007754
18 reduced terminal:vellus ratio 30 HP:0032497

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 Congenital Hypotrichosis with Juvenile Macular Dystrophy 28 CDH3

Anatomical Context for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

MalaCards : Skin, Eye, Bone

Publications for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

(show all 44)
# Title Authors PMID Year
1
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. 62 57 5
12445216 2002
2
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. 62 57 5
11544476 2001
3
Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report. 62 5
34301208 2021
4
Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function. 62 57
16650681 2006
5
Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance. 62 57
7648037 1995
6
[Congenital dystrophy of the pigment layer of the posterior pole with congenital total hypotrichosis (author's transl)]. 57
7230692 1981
7
Retinal cadherins and the retinal cadherinopathies: Current concepts and future directions. 62
35066146 2022
8
The first reported case of CDH3-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report. 62
35038959 2022
9
Hypotrichosis with Juvenile Macular Dystrophy in a Patient with Cadherin 3 (CDH3) Mutation. 62
35996915 2022
10
The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy. 62
33837674 2021
11
Multimodal Imaging in Hypotrichosis with Juvenile Macular Degeneration. 62
34099227 2021
12
Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report. 62
33614726 2021
13
Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation. 62
31927556 2020
14
Hypotrichosis with juvenile macular dystrophy. 62
31718366 2019
15
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. 62
31560841 2019
16
Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy. 62
31645385 2019
17
A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia. 62
31431935 2019
18
Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation. 62
30710256 2019
19
Hypotrichosis with Juvenile Macular Dystrophy. 62
30607044 2018
20
CDH3 gene related hypotrichosis and juvenile macular dystrophy - A case with a novel mutation. 62
29260097 2017
21
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. 62
28061825 2017
22
Hypotrichosis with juvenile macular dystrophy: a case report with molecular study. 62
28380103 2017
23
Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families. 62
27456782 2016
24
Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations). 62
26885695 2016
25
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. 62
27386845 2016
26
Hypotrichosis with juvenile macular dystrophy: Portuguese case. 62
27617529 2016
27
Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy. 62
27157923 2016
28
The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle. 62
25707507 2015
29
A case of hypotrichosis with juvenile macular dystrophy. 62
25621871 2015
30
Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy. 62
23143461 2012
31
Mimicking hair disorders by genetic manipulation of organ-cultured human hair follicles. 62
22971919 2012
32
P-cadherin regulates human hair growth and cycling via canonical Wnt signaling and transforming growth factor-β2. 62
22696062 2012
33
A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy. 62
22348569 2012
34
A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy. 62
20140736 2010
35
Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy. 62
20203473 2010
36
CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations. 62
22140374 2010
37
A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy. 62
19076794 2009
38
P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle. 62
18199584 2008
39
Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy. 62
17342797 2007
40
P-cadherin promotes cell-cell adhesion and counteracts invasion in human melanoma. 62
16204047 2005
41
Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings. 62
16120155 2005
42
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). 62
15805154 2005
43
Histopathology of hypotrichosis with juvenile macular dystrophy. 62
15166507 2004
44
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. 62
14708629 2003

Variations for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

5 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDH3 NM_001793.6(CDH3):c.981del (p.Met327fs) DEL Pathogenic
Pathogenic
17638 rs724159984 GRCh37: 16:68714984-68714984
GRCh38: 16:68681081-68681081
2 CDH3 NM_001793.6(CDH3):c.1795+1G>C SNV Pathogenic
666275 rs752131891 GRCh37: 16:68721640-68721640
GRCh38: 16:68687737-68687737
3 CDH3 NM_001793.6(CDH3):c.747C>A (p.Tyr249Ter) SNV Pathogenic
812255 rs1597807758 GRCh37: 16:68713757-68713757
GRCh38: 16:68679854-68679854
4 CDH3 NM_001793.6(CDH3):c.1508G>A (p.Arg503His) SNV Pathogenic
17639 rs121434542 GRCh37: 16:68719191-68719191
GRCh38: 16:68685288-68685288
5 CDH3 NM_001793.6(CDH3):c.830del (p.Gly277fs) DEL Pathogenic
17641 rs724159985 GRCh37: 16:68713839-68713839
GRCh38: 16:68679936-68679936
6 CDH3 NM_001793.6(CDH3):c.160+1G>A SNV Pathogenic
1322049 GRCh37: 16:68679654-68679654
GRCh38: 16:68645751-68645751
7 CDH3 NM_001793.6(CDH3):c.661C>T (p.Arg221Ter) SNV Pathogenic
1454138 GRCh37: 16:68712779-68712779
GRCh38: 16:68678876-68678876
8 CDH3 NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr) SNV Pathogenic
666276 rs1597809479 GRCh37: 16:68716271-68716271
GRCh38: 16:68682368-68682368
9 CDH3 NM_001793.6(CDH3):c.830G>A (p.Gly277Asp) SNV Likely Pathogenic
812256 rs1597807897 GRCh37: 16:68713840-68713840
GRCh38: 16:68679937-68679937
10 CDH3 NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly) SNV Likely Pathogenic
800872 rs1597817636 GRCh37: 16:68725745-68725745
GRCh38: 16:68691842-68691842
11 CDH3 NM_001793.6(CDH3):c.160+117G>A SNV Benign
1192667 GRCh37: 16:68679770-68679770
GRCh38: 16:68645867-68645867
12 CDH3 NM_001793.6(CDH3):c.247-38A>G SNV Benign
677217 rs1952048 GRCh37: 16:68711999-68711999
GRCh38: 16:68678096-68678096
13 CDH3 NM_001793.6(CDH3):c.2281-45A>C SNV Benign
1192714 GRCh37: 16:68732049-68732049
GRCh38: 16:68698146-68698146
14 CDH3 NM_001793.6(CDH3):c.390+37T>C SNV Benign
677162 rs2296410 GRCh37: 16:68712217-68712217
GRCh38: 16:68678314-68678314
15 CDH3 NM_001793.6(CDH3):c.720G>A (p.Thr240=) SNV Benign
320229 rs2296409 GRCh37: 16:68713730-68713730
GRCh38: 16:68679827-68679827
16 CDH3 NM_001793.6(CDH3):c.813C>A (p.Thr271=) SNV Benign
320230 rs2296408 GRCh37: 16:68713823-68713823
GRCh38: 16:68679920-68679920
17 CDH3 NM_001793.6(CDH3):c.1626T>C (p.Asn542=) SNV Benign
320243 rs2296405 GRCh37: 16:68721470-68721470
GRCh38: 16:68687567-68687567
18 CDH3 NM_001793.6(CDH3):c.1956G>A (p.Lys652=) SNV Benign
320250 rs2274239 GRCh37: 16:68725783-68725783
GRCh38: 16:68691880-68691880
19 CDH3 NM_001793.6(CDH3):c.2239C>A (p.Arg747=) SNV Benign
93783 rs17715450 GRCh37: 16:68729785-68729785
GRCh38: 16:68695882-68695882

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.65 CDH3 CDH15
2 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 cornified envelope GO:0001533 9.33 DSG4 CDSN
2 catenin complex GO:0016342 9.26 CDH3 CDH15
3 desmosome GO:0030057 8.8 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 9.8 DSG4 CDSN CDH3 CDH15
2 retina homeostasis GO:0001895 9.67 TULP1 CDH3
3 visual perception GO:0007601 9.63 TULP1 CNNM4 CDH3
4 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.56 CDH3 CDH15
5 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.43 DSG4 CDH3 CDH15
6 cell-cell adhesion GO:0098609 9.02 DSG4 CDSN CDH3 CDH15

Sources for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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