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 ²⁰ ¹³ ³⁹ ⁷⁰

Congenital Hypotrichosis with Juvenile Macular Dystrophy ¹² ³⁶ ²⁹ ⁶ ¹⁵

Hjmd ⁵⁷ ¹² ²⁰ ⁵⁸ ⁷²

Hypotrichosis with Cone-Rod Dystrophy ⁵⁷ ¹² ⁷²

Hypotrichosis with Juvenile Macular Dystrophy ⁵⁸ ⁶

Hypotrichosis Congenital with Juvenile Macular Dystrophy ⁷²

Juvenile Macular Dystrophy and Congenital Hypotrichosis ²⁰

Hypotrichosis with Juvenile Macular Degeneration ⁵⁸

Juvenile Macular Degeneration and Hypotrichosis ²⁰

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®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of integument

Congenital alopecia

Orphanet: ⁵⁸

Rare eye diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0110711

OMIM® ⁵⁷ 601553

KEGG ³⁶ H00785

MeSH ⁴⁴ D007039

ICD10 via Orphanet ³³ Q84.0

UMLS via Orphanet ⁷¹ C1832162

Orphanet ⁵⁸ ORPHA1573

MedGen ⁴¹ C1832162

UMLS ⁷⁰ C1832162

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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 congenital hypotrichosis with juvenile macular dystrophy, 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 Cell adhesion molecules and Keratinization. Affiliated tissues include eye, bone and skin, 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 : ⁷² 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 : ⁷³ Hypotrichosis with juvenile macular dystrophy (HJMD or CDH3) is an extremely rare congenital disease... more...

More information 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 48)

#	Related Disease	Score	Top Affiliating Genes
1	darier-white disease	30.2	DSG4 CDH3
2	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	29.8	LIPH ERICH6B CDH3 CDH15
3	hypotrichosis	29.4	LIPH KRT74 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	10.2
11	retinitis pigmentosa	10.2
12	keratosis follicularis spinulosa decalvans	10.2
13	neuroretinitis	10.2
14	keratosis	10.2
15	telogen effluvium	10.2
16	retinitis	10.2
17	eye disease	10.2
18	macular holes	10.2
19	retinal degeneration	10.2
20	alopecia	10.2
21	erythrokeratoderma ''en cocardes''	10.2
22	pili torti	10.2
23	craniofacial-deafness-hand syndrome	10.1	CDH3 CDH15
24	hemophagocytic lymphohistiocytosis, familial, 2	10.1	CDH3 CDH15
25	hypotrichosis 13	10.1	LIPH DSG4
26	woolly hair, autosomal dominant	10.0	LIPH KRT74
27	benign chronic pemphigus	10.0	DSG4 CDH3
28	hypotrichosis 3	10.0	LIPH KRT74
29	ectodermal dysplasia 6, hair/nail type	10.0	KRT74 DSG4
30	ectodermal dysplasia 5, hair/nail type	10.0	KRT74 DSG4
31	hypotrichosis 4	10.0	LIPH KRT74
32	pemphigus	10.0	DSG4 CDH3
33	ectodermal dysplasia 9, hair/nail type	10.0	KRT74 DSG4
34	ectodermal dysplasia 7, hair/nail type	10.0	KRT74 DSG4
35	pemphigus vulgaris, familial	9.9	DSG4 CDH3
36	hypotrichosis simplex of the scalp	9.9	KRT74 CDSN
37	hypotrichosis 7	9.8	LIPH KRT74 DSG4
38	hypotrichosis 6	9.8	LIPH KRT74 DSG4
39	ectodermal dysplasia 4, hair/nail type	9.8	LIPH KRT74 DSG4
40	hypotrichosis simplex	9.8	LIPH DSG4 CDSN
41	hypotrichosis 2	9.7	LIPH CDSN
42	t-cell immunodeficiency, congenital alopecia, and nail dystrophy	9.6	LIPH DSG4 CDSN CDH15
43	atrichia with papular lesions	9.5	LIPH KRT74 DSG4 CDSN
44	familial woolly hair syndrome	9.5	LIPH KRT74 DSG4 CDSN
45	monilethrix	9.5	LIPH KRT74 DSG4 CDSN
46	hair disease	9.3	LIPH KRT74 DSG4 CDSN CDH3
47	hypotrichosis 11	9.3	LIPH KRT74 DSG4 CDSN CDH15
48	hypotrichosis 8	9.3	LIPH KRT74 DSG4 CDSN CDH15

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

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	sparse hair ³¹	very rare (1%)		HP:0008070
17	macular dystrophy ³¹			HP:0007754
18	reduced terminal:vellus ratio ³¹			HP:0032497

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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 05-Apr-2021)

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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

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

#	Genetic test	Affiliating Genes
1	Congenital Hypotrichosis with Juvenile Macular Dystrophy ²⁹	CDH3

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Anatomical Context for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

⁴⁰

Eye, Bone, Skin

Sources

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. ⁶¹ ⁶ ⁵⁷	Sprecher E...Szargel R	11544476	2001
2	A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. ⁵⁷ ⁶	Indelman M...Sprecher E	12445216	2002
3	Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function. ⁵⁷ ⁶¹	Leibu R...Perlman I	16650681	2006
4	Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance. ⁵⁷	Souied E...Kaplan J	7648037	1995
5	[Congenital dystrophy of the pigment layer of the posterior pole with congenital total hypotrichosis (author's transl)]. ⁵⁷	Kroll P	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	Saeidian AH...Uitto J	31560841	2019
7	Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy. ⁶¹	Narayan A...Moosajee M	31645385	2019
8	A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia. ⁶¹	Fan KC...Berrocal AM	31431935	2019
9	CDH3 gene related hypotrichosis and juvenile macular dystrophy - A case with a novel mutation. ⁶¹	Karti O...Saatci AO	29260097	2017
10	Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. ⁶¹	Hull S...Webster AR	27386845	2016
11	Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy. ⁶¹	Singh MS...MacLaren RE	27157923	2016
12	The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle. ⁶¹	Samuelov L...Paus R	25707507	2015
13	P-cadherin regulates human hair growth and cycling via canonical Wnt signaling and transforming growth factor-β2. ⁶¹	Samuelov L...Paus R	22696062	2012
14	Mimicking hair disorders by genetic manipulation of organ-cultured human hair follicles. ⁶¹	Chen J...Roop DR	22971919	2012
15	A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy. ⁶¹	Kamran-ul-Hassan Naqvi S...Ahmad W	20140736	2010
16	CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations. ⁶¹	Basel-Vanagaite L...Kjaer KW	22140374	2010
17	Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy. ⁶¹	Shimomura Y...Christiano AM	20203473	2010
18	A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy. ⁶¹	Jelani M...Ahmad W	19076794	2009
19	P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle. ⁶¹	Shimomura Y...Christiano AM	18199584	2008
20	Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy. ⁶¹	Indelman M...Sprecher E	17342797	2007
21	Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings. ⁶¹	Indelman M...Sprecher E	16120155	2005
22	Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). ⁶¹	Kjaer KW...Rosenberg T	15805154	2005
23	Histopathology of hypotrichosis with juvenile macular dystrophy. ⁶¹	Bergman R...Sprecher E	15166507	2004

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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	PubMed IDs
1	CDH3	Cadherin 3	Protein Coding	1699.95	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	11544476 12445216 22140374
2	CDH15	Cadherin 15	Protein Coding	7.47	DISEASES inferred ¹⁵
3	LIPH	Lipase H	Protein Coding	6.59	DISEASES inferred ¹⁵
4	DSG4	Desmoglein 4	Protein Coding	6.49	DISEASES inferred ¹⁵
5	CNNM4	Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4	Protein Coding	6.25	DISEASES inferred ¹⁵
6	ERICH6B	Glutamate Rich 6B	Protein Coding	6.13	DISEASES inferred ¹⁵
7	CDSN	Corneodesmosin	Protein Coding	6.01	DISEASES inferred ¹⁵
8	TULP1	TUB Like Protein 1	Protein Coding	5.63	DISEASES inferred ¹⁵
9	KRT74	Keratin 74	Protein Coding	5.48	DISEASES inferred ¹⁵

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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	Position
1	CDH3	NM_001793.6(CDH3):c.981del (p.Met327fs)	Deletion	Pathogenic	17638	rs724159984	GRCh37: 16:68714984-68714984 GRCh38: 16:68681081-68681081
2	CDH3	NM_001793.6(CDH3):c.1508G>A (p.Arg503His)	SNV	Pathogenic	17639	rs121434542	GRCh37: 16:68719191-68719191 GRCh38: 16:68685288-68685288
3	CDH3	NM_001793.6(CDH3):c.1795+1G>C	SNV	Pathogenic	666275	rs752131891	GRCh37: 16:68721640-68721640 GRCh38: 16:68687737-68687737
4	CDH3	NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr)	SNV	Pathogenic	666276	rs1597809479	GRCh37: 16:68716271-68716271 GRCh38: 16:68682368-68682368
5	CDH3	NM_001793.6(CDH3):c.747C>A (p.Tyr249Ter)	SNV	Pathogenic	812255	rs1597807758	GRCh37: 16:68713757-68713757 GRCh38: 16:68679854-68679854
6	CDH3	NM_001793.6(CDH3):c.981del (p.Met327fs)	Deletion	Pathogenic	17638	rs724159984	GRCh37: 16:68714984-68714984 GRCh38: 16:68681081-68681081
7	CDH3	NM_001793.6(CDH3):c.830G>A (p.Gly277Asp)	SNV	Likely pathogenic	812256	rs1597807897	GRCh37: 16:68713840-68713840 GRCh38: 16:68679937-68679937
8	CDH3	NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly)	SNV	Likely pathogenic	800872	rs1597817636	GRCh37: 16:68725745-68725745 GRCh38: 16:68691842-68691842

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

⁷²

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

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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:

³⁶

#	Name	Kegg Source Accession
1	Cell adhesion molecules	hsa04514

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

#	Super pathways	Score	Top Affiliating Genes
1	Keratinization ⁶⁵ Show member pathways Formation of the cornified envelope ⁶⁵	11.59	KRT74 DSG4 CDSN
2	Cell adhesion_Cadherin-mediated cell adhesion ²³	10.23	CDH3 CDH15

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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	9.8	TULP1 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	9.67	DSG4 CDSN CDH3 CDH15
2	visual perception	GO:0007601	9.5	TULP1 CNNM4 CDH3
3	keratinocyte differentiation	GO:0030216	9.48	DSG4 CDSN
4	adherens junction organization	GO:0034332	9.46	CDH3 CDH15
5	retina homeostasis	GO:0001895	9.43	TULP1 CDH3
6	keratinization	GO:0031424	9.43	KRT74 DSG4 CDH3
7	cell-cell adhesion via plasma-membrane adhesion molecules	GO:0098742	9.4	CDH3 CDH15
8	homophilic cell adhesion via plasma membrane adhesion molecules	GO:0007156	9.33	DSG4 CDH3 CDH15
9	cornification	GO:0070268	9.13	KRT74 DSG4 CDSN
10	cell-cell adhesion	GO:0098609	8.92	DSG4 CDSN CDH3 CDH15

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Sources for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

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¹⁰ dbSNP

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¹² Disease Ontology

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²⁰ GARD

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Hypotrichosis, Congenital, with Juvenile Macular Dystrophy (HJMD)

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

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

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Anatomical Context for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

Publications for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

Genes for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

Variations for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy

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

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

Expression 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:

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

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:

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

Sources for Hypotrichosis, Congenital, with Juvenile Macular Dystrophy