Hypotrichosis Simplex disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HHS MCID: HYP137 MIFTS: 41	Hypotrichosis Simplex (HHS) Categories: Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

Sources

Aliases & Classifications for Hypotrichosis Simplex

MalaCards integrated aliases for Hypotrichosis Simplex:

Name: Hypotrichosis Simplex ²⁰ ⁵⁸ ⁷¹

Hereditary Hypotrichosis Simplex ⁵⁸ ²⁹ ⁶

Hhs ²⁰

Characteristics:

Orphanet epidemiological data:

⁵⁸

hypotrichosis simplex
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the skin and subcutaneous tissue

Disorders of skin appendages

Other nonscarring hair loss

Other specified nonscarring hair loss

Orphanet: ⁵⁸

Rare skin diseases

External Ids:

MESH via Orphanet ⁴⁵ C537160

ICD10 via Orphanet ³³ L65.8

UMLS via Orphanet ⁷² C1854310

Orphanet ⁵⁸ ORPHA55654

SNOMED-CT via HPO ⁶⁸ 278040002 56317004

UMLS ⁷¹ C1854310

Sources

Summaries for Hypotrichosis Simplex

GARD : ²⁰ Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all body hair is affected. The progressive thinning of the hair shaft is a typical feature of androgenetic alopecia. Hypotrichosis simplex can be inherited either as an autosomal dominant or autosomal recessive trait. Some cases are caused by mutations in the APCDD1 gene on chromosome 18p11. To date, there is no treatment for this condition.

MalaCards based summary : Hypotrichosis Simplex, also known as hereditary hypotrichosis simplex, is related to hypotrichosis 3 and hypotrichosis 2. An important gene associated with Hypotrichosis Simplex is LIPH (Lipase H), and among its related pathways/superpathways are Pathways in cancer and Regulation of FZD by ubiquitination. The drugs Anti-Infective Agents and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are alopecia and sparse body hair

Sources

Related Diseases for Hypotrichosis Simplex

Diseases related to Hypotrichosis Simplex via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)

#	Related Disease	Score	Top Affiliating Genes
1	hypotrichosis 3	32.7	LPAR6 LIPH
2	hypotrichosis 2	32.6	LIPH CDSN
3	hypotrichosis 8	30.2	SNRPE RB1 LPAR6 LIPH KRT25 DSG4
4	familial woolly hair syndrome	29.4	LPAR6 LIPH KRT25 DSG4 CDSN
5	hypotrichosis 11	28.9	SNRPE LPAR6 LOC112577531 LIPH DSG4 CDSN
6	hypotrichosis	28.7	WNT3A SNRPE RPL21 RB1 LSS LRP5
7	hypotrichosis 1	11.7
8	tumoral calcinosis, hyperphosphatemic, familial, 1	11.5
9	hypotrichosis simplex of the scalp	11.3
10	dyskeratosis congenita, x-linked	11.3
11	heart-hand syndrome, slovenian type	11.2
12	charge syndrome	11.1
13	marie unna congenital hypotrichosis	11.1
14	dyskeratosis congenita, autosomal dominant 1	11.0
15	dyskeratosis congenita, autosomal recessive 5	11.0
16	hyperinsulinemic hypoglycemia, familial, 6	10.9
17	tumoral calcinosis, hyperphosphatemic, familial, 2	10.9
18	tumoral calcinosis, hyperphosphatemic, familial, 3	10.9
19	hoyeraal hreidarsson syndrome	10.9
20	alopecia	10.4
21	substance abuse	10.3
22	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	10.1
23	dumping syndrome	10.1
24	hypotrichosis 12	10.1
25	erythrokeratoderma ''en cocardes''	10.1
26	coronary heart disease 1	10.1
27	variola major	10.1
28	smallpox	10.1
29	osteogenesis imperfecta, type xvii	10.0	RPL21 RB1
30	osteoporosis-pseudoglioma syndrome	10.0	WNT3A LRP5
31	hypotrichosis 4	10.0	SNRPE LPAR6 LIPH
32	van buchem disease	10.0	WNT3A LRP5
33	unilateral retinoblastoma	10.0	RB1 LPAR6
34	cardiomyopathy, dilated, with woolly hair and keratoderma	10.0	LPAR6 DSG4
35	hypotrichosis, congenital, with juvenile macular dystrophy	10.0	LIPH DSG4 CDSN
36	bilateral retinoblastoma	10.0	RB1 LPAR6
37	naxos disease	10.0	LPAR6 DSG4
38	osteoporosis, juvenile	10.0	WNT3A LRP5
39	diabetes mellitus, ketosis-prone	10.0
40	hyperphosphatemia	10.0
41	disease of mental health	10.0
42	impotence	10.0
43	hyperostosis	10.0
44	acquired immunodeficiency syndrome	10.0
45	anthrax disease	10.0
46	influenza	10.0
47	pik3ca-related overgrowth syndrome	10.0
48	alopecia universalis congenita	9.9
49	taurodontism	9.9
50	cataract 44	9.9

Graphical network of the top 20 diseases related to Hypotrichosis Simplex:

Sources

Symptoms & Phenotypes for Hypotrichosis Simplex

Human phenotypes related to Hypotrichosis Simplex:

⁵⁸ ³¹ (show all 8)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	alopecia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001596
2	sparse body hair ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002231
3	sparse eyelashes ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000653
4	sparse scalp hair ³¹	hallmark (90%)		HP:0002209
5	sparse and thin eyebrow ³¹	hallmark (90%)		HP:0000535
6	sparse hair ⁵⁸		Frequent (79-30%)
7	sparse eyebrow ⁵⁸		Very frequent (99-80%)
8	hypotrichosis of the scalp ⁵⁸		Very frequent (99-80%)

MGI Mouse Phenotypes related to Hypotrichosis Simplex:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation	MP:0001186	8.92	DSG4 LIPH LRP5 RB1

Sources

Drugs & Therapeutics for Hypotrichosis Simplex

Drugs for Hypotrichosis Simplex (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Anti-Infective Agents		Phase 2
2	Anti-Bacterial Agents		Phase 2
3	Gentamicins		Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	The Efficacy of Topical Gentamycin for the Treatment of Hereditary Hypotrichosis Simplex Caused by Heterozygous Nonsense Mutations in CDSN Encoding Corneodesmosin	Unknown status	NCT03492866	Phase 2	Gentamicin Sulfate

Search NIH Clinical Center for Hypotrichosis Simplex

Sources

Genetic Tests for Hypotrichosis Simplex

Genetic tests related to Hypotrichosis Simplex:

#	Genetic test	Affiliating Genes
1	Hereditary Hypotrichosis Simplex ²⁹

Sources

Anatomical Context for Hypotrichosis Simplex

MalaCards organs/tissues related to Hypotrichosis Simplex:

⁴⁰

Skin

Sources

Publications for Hypotrichosis Simplex

Articles related to Hypotrichosis Simplex:

(show top 50) (show all 63)

#	Title	Authors	PMID	Year
1	Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. ⁶¹ ⁶	Pasternack SM...Betz RC	23246290	2013
2	A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family. ⁶¹ ⁶	Li M...Yao Z	22512811	2012
3	Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. ⁶¹ ⁶	Zhou C...Zhang J	21412954	2011
4	A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. ⁶¹ ⁶	Nahum S...Sprecher E	21070332	2011
5	A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. ⁶¹ ⁶	Xu C...Song HD	19751230	2010
6	APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. ⁶¹ ⁶	Shimomura Y...Christiano AM	20393562	2010
7	Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). ⁶ ⁶¹	Azeem Z...Ahmad W	18461368	2008
8	G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. ⁶¹ ⁶	Pasternack SM...Betz RC	18297070	2008
9	An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. ⁶ ⁶¹	Baumer A...Schinzel A	10878665	2000
10	Hereditary hypotrichosis simplex. ⁶¹ ⁶	Just M...Ferrandiz C	9621144	1998
11	Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. ⁶	Khan S...Ahmad W	21426374	2011
12	Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. ⁶	Shimomura Y...Christiano AM	18830268	2009
13	The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. ⁶	Petukhova L...Christiano AM	19365138	2009
14	A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). ⁶	Jelani M...Ahmad W	18445047	2008
15	Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. ⁶	Shimomura Y...Christiano AM	18297072	2008
16	Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. ⁶	Wajid M...Christiano AM	17392831	2007
17	A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. ⁶	Ali G...Ahmad W	17333281	2007
18	Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. ⁶	Kazantseva A...Rogaev EI	17095700	2006
19	Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. ⁶	Schaffer JV...Christiano AM	16543896	2006
20	An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. ⁶	Zlotogorski A...Pras E	16575393	2006
21	Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. ⁶	Shimomura Y...Ito M	16439973	2006
22	Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. ⁶	Kljuic A...Christiano AM	12705872	2003
23	Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene. ⁶¹	Hua S...Li M	33222230	2020
24	Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin. ⁶¹	Peled A...Sprecher E	31746457	2020
25	Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. ⁶¹	van der Velden JJAJ...Steijlen PM	31663161	2020
26	Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. ⁶¹	Besnard T...Isidor B	30723320	2019
27	[Involvement of cholesterol metabolism in hypotrichosis simplex]. ⁶¹	Dereure O	30745120	2019
28	Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. ⁶¹	Schlaweck AE...Betz RC	31790498	2019
29	Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. ⁶¹	Romano MT...Betz RC	30401459	2018
30	A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family. ⁶¹	Huang H...Zhang X	29797736	2018
31	Hereditary hypotrichosis simplex of the scalp. ⁶¹	Farah RS...Swick BL	28873114	2017
32	Hereditary hypotrichosis simplex of the scalp. ⁶¹	Moravvej-Farshi H...Hejazi S	25484430	2014
33	[Alopecia and hypotrichosis in childhood: clinical features and diagnosis]. ⁶¹	Betz RC	24898506	2014
34	Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. ⁶¹	Liu LH...Zhang XJ	24354445	2014
35	A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. ⁶¹	Yang SX...Yang Y	23746069	2014
36	Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. ⁶¹	Raykova D...Dahl N	24714551	2014
37	'Black dots' seen under trichoscopy are not specific for alopecia areata. ⁶¹	Kowalska-Oledzka E...Rudnicka L	22681306	2012
38	[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. ⁶¹	Huang XS...Quan QL	22875505	2012
39	Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. ⁶¹	Al Aboud K...Al Aboud D	25386265	2011
40	Mutations in two genes on chromosome 13 resulting in a complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex. ⁶¹	Horev L...Zlotogorski A	21275938	2011
41	Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses. ⁶¹	Jonca N...Serre G	21628128	2011
42	A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. ⁶¹	Caubet C...Serre G	20448140	2010
43	Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript. ⁶¹	Ramot Y...Zlotogorski A	20163456	2010
44	Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. ⁶¹	Oji V...Hennies HC	20691404	2010
45	In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. ⁶¹	Pasternack SM...Betz RC	19536142	2009
46	Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. ⁶¹	Horev L...Zlotogorski A	19766349	2009
47	Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. ⁶¹	Pasternack SM...Betz RC	19529952	2009
48	Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. ⁶¹	Leclerc EA...Guerrin M	19596793	2009
49	A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. ⁶¹	Nahum S...Sprecher E	18820939	2009
50	[Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome]. ⁶¹	Dereure O	19061667	2008

Sources

Genes for Hypotrichosis Simplex

Genes related to Hypotrichosis Simplex (11 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LIPH	Lipase H	Protein Coding	791.23	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)	17095700
2	APCDD1	APC Down-Regulated 1	Protein Coding	766.9	Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Publications Summaries (show sections)	20393562 10878665 22512811
3	RPL21	Ribosomal Protein L21	Protein Coding	757.27	Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)	19751230 21412954
4	SNRPE	Small Nuclear Ribonucleoprotein Polypeptide E	Protein Coding	757.27	Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)	23246290
5	LPAR6	Lysophosphatidic Acid Receptor 6	Protein Coding	756.92	Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)	18297070
6	DSG4	Desmoglein 4	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁸	12705872
7	DSG1-AS1	DSG1 Antisense RNA 1	RNA Gene	400	Pathogenic ⁶	16575393 16543896 16439973 (more) 17392831
8	KRT25	Keratin 25	Protein Coding	400	Pathogenic ⁶
9	LOC112577531	Sharpr-MPRA Regulatory Region 5904	Biological Region	400	Pathogenic ⁶	9621144 23246290
10	RB1	RB Transcriptional Corepressor 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	21070332 18297072 18461368 (more) 21426374 18297070
11	LSS	Lanosterol Synthase	Protein Coding	357.27	Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)
12	CDSN	Corneodesmosin	Protein Coding	8.07	GeneCards inferred via : Publications (show sections)
13	LRP5	LDL Receptor Related Protein 5	Protein Coding	7.27	GeneCards inferred via : Publications (show sections)
14	WNT3A	Wnt Family Member 3A	Protein Coding	7.27	GeneCards inferred via : Publications (show sections)

Sources

Variations for Hypotrichosis Simplex

ClinVar genetic disease variations for Hypotrichosis Simplex:

⁶ (show top 50) (show all 127)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RB1	NM_000321.2(RB1):c.1695+30416C>T	SNV	Pathogenic	1829	rs121434309	13:48985995-48985995	13:48411859-48411859
2	DSG4	DSG4, EX5-8DEL	Deletion	Pathogenic	2719
3	DSG1-AS1	NM_177986.5(DSG4):c.87del (p.Lys30fs)	Deletion	Pathogenic	2720	rs1325804776	18:28966653-28966653	18:31386690-31386690
4	DSG1-AS1	NM_177986.5(DSG4):c.574T>C (p.Ser192Pro)	SNV	Pathogenic	2721	rs267606775	18:28970675-28970675	18:31390712-31390712
5	DSG1-AS1	NM_177986.5(DSG4):c.2038dup (p.Ser680fs)	Duplication	Pathogenic	2722	rs786200875	18:28989518-28989519	18:31409555-31409556
6	DSG1-AS1	NM_177986.5(DSG4):c.216+1G>T	SNV	Pathogenic	2723	rs1568062215	18:28966783-28966783	18:31386820-31386820
7	DSG1-AS1	NM_177986.5(DSG4):c.800C>G (p.Pro267Arg)	SNV	Pathogenic	2724	rs267606776	18:28971156-28971156	18:31391193-31391193
8	DSG1-AS1	NM_177986.5(DSG4):c.763del (p.Cys255fs)	Deletion	Pathogenic	2725	rs1462595806	18:28971119-28971119	18:31391156-31391156
9	DSG1-AS1	NM_177986.5(DSG4):c.865C>T (p.Arg289Ter)	SNV	Pathogenic	2726	rs267606777	18:28972163-28972163	18:31392200-31392200
10	APCDD1	NM_153000.5(APCDD1):c.26T>G (p.Leu9Arg)	SNV	Pathogenic	3161	rs267606659	18:10455004-10455004	18:10455007-10455007
11	LIPH	LIPH, EX4 DEL	Deletion	Pathogenic	3301
12	LIPH	LIPH, 5-BP DEL, NT346	Deletion	Pathogenic	3302
13	LIPH	NM_139248.3(LIPH):c.659_660del (p.Ile220fs)	Deletion	Pathogenic	3303	rs559648418	3:185241917-185241918	3:185524129-185524130
14	LIPH	LIPH, EXONS 7-8 DEL	Deletion	Pathogenic	3304
15	LPAR6	LPAR6, 4-BP INS, 69CATG	Insertion	Pathogenic	1826
16	RB1	NM_000321.2(RB1):c.1695+30394G>A	SNV	Pathogenic	30780	rs115596308	13:48985973-48985973	13:48411837-48411837
17	RPL21	NM_000982.3(RPL21):c.95G>A (p.Arg32Gln)	SNV	Pathogenic	139638	rs587777527	13:27828384-27828384	13:27254247-27254247
18	KRT25	NM_181534.4(KRT25):c.950T>C (p.Leu317Pro)	SNV	Pathogenic	217303	rs766783183	17:38907213-38907213	17:40750961-40750961
19	RB1	NM_005767.6(LPAR6):c.188A>T (p.Asp63Val)	SNV	Pathogenic	217499	rs879255262	13:48986372-48986372	13:48412236-48412236
20	RB1	NM_000321.2(RB1):c.1695+30518G>A	SNV	Pathogenic	1824	rs121434306	13:48986097-48986097	13:48411961-48411961
21	LPAR6	LPAR6, 2-BP DEL, 373AA	Deletion	Pathogenic	1825
22	SNRPE	NM_003094.4(SNRPE):c.133G>A (p.Gly45Ser)	SNV	Pathogenic	39506	rs587776925	1:203832842-203832842	1:203863714-203863714
23	LOC112577531	NM_003094.4(SNRPE):c.1A>G (p.Met1Val)	SNV	Pathogenic	39505	rs587776924	1:203830788-203830788	1:203861660-203861660
24	LIPH	NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)	SNV	Pathogenic	225403	rs201249971	3:185237080-185237080	3:185519292-185519292
25	RB1	NM_001162497.2(LPAR6):c.373_374del (p.Lys125fs)	Deletion	Pathogenic	592094	rs1566212378	13:48986186-48986187	13:48412050-48412051
26	RB1	NM_005767.6(LPAR6):c.436G>A (p.Gly146Arg)	SNV	Pathogenic/Likely pathogenic	1828	rs121434308	13:48986124-48986124	13:48411988-48411988
27	LIPH	NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)	SNV	Likely pathogenic	225403	rs201249971	3:185237080-185237080	3:185519292-185519292
28	DSG1-AS1	NM_177986.5(DSG4):c.1198G>A (p.Gly400Arg)	SNV	Uncertain significance	585099	rs35378785	18:28979427-28979427	18:31399464-31399464
29	DSG1-AS1	NM_177986.5(DSG4):c.2928del (p.Asp976fs)	Deletion	Uncertain significance	631796	rs754476167	18:28993363-28993363	18:31413400-31413400
30	DSG1-AS1	NM_177986.5(DSG4):c.3091C>T (p.Arg1031Ter)	SNV	Uncertain significance	631797	rs147705128	18:28993526-28993526	18:31413563-31413563
31	DSG1-AS1	NM_177986.5(DSG4):c.2517A>G (p.Lys839=)	SNV	Uncertain significance	784546	rs144494183	18:28992952-28992952	18:31412989-31412989
32	DSG1-AS1	NM_177986.5(DSG4):c.2523G>A (p.Arg841=)	SNV	Uncertain significance	890046		18:28992958-28992958	18:31412995-31412995
33	DSG1-AS1	NM_177986.5(DSG4):c.398G>A (p.Arg133Gln)	SNV	Uncertain significance	891462		18:28968862-28968862	18:31388899-31388899
34	DSG1-AS1	NM_177986.5(DSG4):c.428T>G (p.Leu143Arg)	SNV	Uncertain significance	891463		18:28968892-28968892	18:31388929-31388929
35	DSG1-AS1	NM_177986.5(DSG4):c.2705A>G (p.His902Arg)	SNV	Uncertain significance	891599		18:28993140-28993140	18:31413177-31413177
36	DSG1-AS1	NM_177986.5(DSG4):c.517+7A>T	SNV	Uncertain significance	891721		18:28968988-28968988	18:31389025-31389025
37	DSG1-AS1	NM_177986.5(DSG4):c.1637-14C>T	SNV	Uncertain significance	891786		18:28986026-28986026	18:31406063-31406063
38	DSG1-AS1	NM_177986.5(DSG4):c.1655C>A (p.Thr552Lys)	SNV	Uncertain significance	891787		18:28986058-28986058	18:31406095-31406095
39	DSG1-AS1	NM_177986.5(DSG4):c.1719C>T (p.Asn573=)	SNV	Uncertain significance	891788		18:28986122-28986122	18:31406159-31406159
40	DSG1-AS1	NM_177986.5(DSG4):c.1753T>C (p.Tyr585His)	SNV	Uncertain significance	891789		18:28986156-28986156	18:31406193-31406193
41	DSG1-AS1	NM_177986.5(DSG4):c.1800C>T (p.Ala600=)	SNV	Uncertain significance	891790		18:28986203-28986203	18:31406240-31406240
42	DSG1-AS1	NM_177986.5(DSG4):c.2795A>G (p.Asn932Ser)	SNV	Uncertain significance	726612	rs139102330	18:28993230-28993230	18:31413267-31413267
43	DSG1-AS1	NM_177986.5(DSG4):c.2901A>G (p.Arg967=)	SNV	Uncertain significance	784547	rs151254406	18:28993336-28993336	18:31413373-31413373
44	DSG1-AS1	NM_177986.5(DSG4):c.3027A>G (p.Pro1009=)	SNV	Uncertain significance	891858		18:28993462-28993462	18:31413499-31413499
45	DSG1-AS1	NM_177986.5(DSG4):c.-133C>T	SNV	Uncertain significance	889236		18:28956742-28956742	18:31376779-31376779
46	DSG1-AS1	NM_177986.5(DSG4):c.930C>T (p.Leu310=)	SNV	Uncertain significance	889292		18:28972228-28972228	18:31392265-31392265
47	DSG1-AS1	NM_177986.5(DSG4):c.980A>G (p.Asn327Ser)	SNV	Uncertain significance	716236	rs149724713	18:28972278-28972278	18:31392315-31392315
48	DSG1-AS1	NM_177986.5(DSG4):c.1128T>C (p.Val376=)	SNV	Uncertain significance	711703	rs143590546	18:28979357-28979357	18:31399394-31399394
49	DSG1-AS1	NM_177986.5(DSG4):c.1933+12A>G	SNV	Uncertain significance	889353		18:28986348-28986348	18:31406385-31406385
50	DSG1-AS1	NM_177986.5(DSG4):c.2104G>A (p.Ala702Thr)	SNV	Uncertain significance	889354		18:28989738-28989738	18:31409775-31409775

Sources

Expression for Hypotrichosis Simplex

Search GEO for disease gene expression data for Hypotrichosis Simplex.

Sources

Pathways for Hypotrichosis Simplex

Pathways related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Pathways in cancer ³⁶	12.28	WNT3A RB1 LRP5 LPAR6
2	Regulation of FZD by ubiquitination ⁶⁵ Show member pathways RNF mutants show enhanced WNT signaling and proliferation ⁶⁵	10.65	WNT3A LRP5
3	Wnt signaling network ¹	10.4	WNT3A LRP5
4	Negative regulation of TCF-dependent signaling by WNT ligand antagonists ⁶⁵ Show member pathways Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling ⁶⁵	9.95	WNT3A LRP5

Sources

GO Terms for Hypotrichosis Simplex

Cellular components related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cornified envelope	GO:0001533	9.16	DSG4 CDSN
2	desmosome	GO:0030057	8.96	DSG4 CDSN
3	Wnt-Frizzled-LRP5/6 complex	GO:1990851	8.62	WNT3A LRP5

Biological processes related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Wnt signaling pathway	GO:0016055	9.43	WNT3A LRP5 APCDD1
2	skeletal muscle cell differentiation	GO:0035914	9.37	WNT3A RB1
3	hair follicle development	GO:0001942	9.32	DSG4 APCDD1
4	negative regulation of protein serine/threonine kinase activity	GO:0071901	9.16	RB1 LRP5
5	hair cycle	GO:0042633	8.96	SNRPE KRT25
6	cornification	GO:0070268	8.8	KRT25 DSG4 CDSN

Molecular functions related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Wnt-protein binding	GO:0017147	8.62	LRP5 APCDD1

Sources

Sources for Hypotrichosis Simplex

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

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

⁴⁶ MGI

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-Mar-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 TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hypotrichosis Simplex (HHS)

Aliases & Classifications for Hypotrichosis Simplex

MalaCards integrated aliases for Hypotrichosis Simplex:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Hypotrichosis Simplex

Related Diseases for Hypotrichosis Simplex

Diseases related to Hypotrichosis Simplex via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Hypotrichosis Simplex:

Symptoms & Phenotypes for Hypotrichosis Simplex

Human phenotypes related to Hypotrichosis Simplex:

MGI Mouse Phenotypes related to Hypotrichosis Simplex:

Drugs & Therapeutics for Hypotrichosis Simplex

Drugs for Hypotrichosis Simplex (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Hypotrichosis Simplex

Genetic tests related to Hypotrichosis Simplex:

Anatomical Context for Hypotrichosis Simplex

MalaCards organs/tissues related to Hypotrichosis Simplex:

Publications for Hypotrichosis Simplex

Articles related to Hypotrichosis Simplex:

Genes for Hypotrichosis Simplex

Genes related to Hypotrichosis Simplex (11 elite genes):

Variations for Hypotrichosis Simplex

ClinVar genetic disease variations for Hypotrichosis Simplex:

Expression for Hypotrichosis Simplex

Pathways for Hypotrichosis Simplex

Pathways related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

GO Terms for Hypotrichosis Simplex

Cellular components related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

Biological processes related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

Molecular functions related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

Sources for Hypotrichosis Simplex