Hypotrichosis, Congenital, with Juvenile Macular Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of integument

Congenital alopecia

Orphanet: ⁵⁹

Rare eye diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 601553

Disease Ontology ¹² DOID:0110711

Orphanet ⁵⁹ ORPHA1573

UMLS via Orphanet ⁷⁴ C1832162

ICD10 via Orphanet ³⁴ Q84.0

MedGen ⁴² C1832162

MeSH ⁴⁴ D007039

KEGG ³⁷ H00785

UMLS ⁷³ C1832162

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Summaries for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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 telogen effluvium. 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

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

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	juvenile macular degeneration and hypotrichosis	11.4
2	telogen effluvium	10.1	CDH15 CDH3
3	deafness, autosomal recessive 89	10.1	CDH15 CDH3
4	hypotrichosis	10.1
5	hair disease	9.9	CDH15 CDH3
6	cervix small cell carcinoma	9.8	CDH17 CDH2
7	spindle cell synovial sarcoma	9.8	CDH17 CDH2
8	crohn's colitis	9.7	CDH1 CDH3
9	microcystic meningioma	9.6	CDH1 CDH17
10	infiltrative basal cell carcinoma	9.6	CDH1 CDH17
11	diffuse gastric cancer	9.6	CDH1 CDH3
12	parotid gland cancer	9.5	CDH1 CDH17
13	mesothelioma, malignant	9.2	CDH1 CDH2
14	tongue squamous cell carcinoma	9.1	CDH1 CDH2
15	tooth agenesis	9.1	CDH1 CDH3

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

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

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

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

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

⁴¹

Skin, Bone, Eye

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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 )	Hull S....Webster A.R.	2016

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Genes for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

Genes related to Hypotrichosis, Congenital, with Juvenile Macular Dystrophy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CDH3	Cadherin 3	Protein Coding	1585.48	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	11544476 12445216
2	CDH15	Cadherin 15	Protein Coding	17.47	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	CDH2	Cadherin 2	Protein Coding	14.04	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	CDH1	Cadherin 1	Protein Coding	13.18	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	CDH17	Cadherin 17	Protein Coding	6.16	DISEASES inferred ¹⁵

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Variations for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

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

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 14)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.36	CDH1 CDH15 CDH17 CDH2 CDH3
2	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	12.9	CDH1 CDH15 CDH17 CDH2 CDH3
3	Cell junction organization ⁶⁶ Show member pathways Adherens junctions interactions ⁶⁶ Cell-Cell communication ⁶⁶ Cell-cell junction organization ⁶⁶ Cell-extracellular matrix interactions ⁶⁶ DSCAM interactions ⁶⁶ Localization of the PINCH-ILK-PARVIN complex to focal adhesions ⁶⁶ Nectin/Necl trans heterodimerization ⁶⁶ Regulation of cytoskeletal remodeling and cell spreading by IPP complex components ⁶⁶ Signal regulatory protein (SIRP) family interactions ⁶⁶ Tight junction interactions ⁶⁶ Type I hemidesmosome assembly ⁶⁶	12.39	CDH1 CDH15 CDH17 CDH2 CDH3
4	Cell adhesion molecules (CAMs) ³⁷	11.89	CDH1 CDH15 CDH2 CDH3
5	Adhesion ⁴	11.79	CDH1 CDH17 CDH2 CDH3
6	Cell cycle Cell cycle (generic schema) ²² Show member pathways Cell cycle Regulation of G1/S transition (part 2) ²² G0 and Early G1 ⁶⁶ G2 Phase ⁶⁶	11.65	CDH1 CDH15 CDH17 CDH2 CDH3
7	Neural Crest Differentiation ¹	11.54	CDH1 CDH2
8	S-1P Stimulated Signaling ⁶⁴	11.53	CDH1 CDH15 CDH17 CDH2 CDH3
9	Presenilin-Mediated Signaling ⁶⁴	11.51	CDH1 CDH15 CDH17 CDH2 CDH3
10	Myogenesis ⁶⁶ Show member pathways CDO in myogenesis ⁶⁶	11.29	CDH15 CDH2
11	FGF signaling pathway ¹	11.18	CDH1 CDH2
12	Cell adhesion_Cadherin-mediated cell adhesion ²²	11.16	CDH1 CDH15 CDH2 CDH3
13	G12-G13 in Cellular Signaling ⁶⁴	11.11	CDH1 CDH15 CDH17 CDH2 CDH3
14	TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition ¹	10.73	CDH1 CDH2

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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	9.72	CDH1 CDH15 CDH17 CDH2 CDH3
2	cell surface	GO:0009986	9.55	CDH1 CDH15 CDH17 CDH2 CDH3
3	cell junction	GO:0030054	9.54	CDH1 CDH17 CDH2
4	lamellipodium	GO:0030027	9.4	CDH1 CDH2
5	cortical actin cytoskeleton	GO:0030864	9.26	CDH1 CDH2
6	cell-cell adherens junction	GO:0005913	9.26	CDH1 CDH15 CDH2 CDH3
7	catenin complex	GO:0016342	8.92	CDH1 CDH15 CDH2 CDH3

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell adhesion	GO:0007155	9.8	CDH1 CDH15 CDH17 CDH2 CDH3
2	multicellular organism development	GO:0007275	9.76	CDH1 CDH15 CDH2 CDH3
3	cell morphogenesis	GO:0000902	9.67	CDH1 CDH15 CDH2 CDH3
4	homophilic cell adhesion via plasma membrane adhesion molecules	GO:0007156	9.65	CDH1 CDH15 CDH17 CDH2 CDH3
5	cell-cell junction assembly	GO:0007043	9.62	CDH1 CDH15 CDH2 CDH3
6	protein localization to plasma membrane	GO:0072659	9.51	CDH1 CDH2
7	cell-cell adhesion	GO:0098609	9.49	CDH1 CDH3
8	synapse assembly	GO:0007416	9.48	CDH1 CDH2
9	cell-cell adhesion mediated by cadherin	GO:0044331	9.46	CDH1 CDH15 CDH2 CDH3
10	positive regulation of muscle cell differentiation	GO:0051149	9.43	CDH15 CDH2
11	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	GO:0016339	9.35	CDH1 CDH15 CDH17 CDH2 CDH3
12	adherens junction organization	GO:0034332	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	9.62	CDH1 CDH15 CDH2 CDH3
3	cadherin binding	GO:0045296	9.46	CDH1 CDH15 CDH2 CDH3
4	beta-catenin binding	GO:0008013	9.4	CDH1 CDH2
5	calcium ion binding	GO:0005509	9.35	CDH1 CDH15 CDH17 CDH2 CDH3
6	gamma-catenin binding	GO:0045295	9.26	CDH1 CDH2
7	cytoskeletal protein binding	GO:0008092	8.92	CDH1 CDH15 CDH2 CDH3

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