HHS
MCID: HYP137
MIFTS: 41

Hypotrichosis Simplex (HHS)

Categories: Rare diseases, Skin diseases

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:

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

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

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:



Diseases related to Hypotrichosis Simplex

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

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

Genetic Tests for Hypotrichosis Simplex

Genetic tests related to Hypotrichosis Simplex:

# Genetic test Affiliating Genes
1 Hereditary Hypotrichosis Simplex 29

Anatomical Context for Hypotrichosis Simplex

MalaCards organs/tissues related to Hypotrichosis Simplex:

40
Skin

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
23246290 2013
2
A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family. 61 6
22512811 2012
3
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. 61 6
21412954 2011
4
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. 61 6
21070332 2011
5
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. 61 6
19751230 2010
6
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. 61 6
20393562 2010
7
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). 6 61
18461368 2008
8
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. 61 6
18297070 2008
9
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. 6 61
10878665 2000
10
Hereditary hypotrichosis simplex. 61 6
9621144 1998
11
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. 6
21426374 2011
12
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. 6
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
19365138 2009
14
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). 6
18445047 2008
15
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. 6
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
17392831 2007
17
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. 6
17333281 2007
18
Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. 6
17095700 2006
19
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. 6
16543896 2006
20
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. 6
16575393 2006
21
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. 6
16439973 2006
22
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. 6
12705872 2003
23
Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene. 61
33222230 2020
24
Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin. 61
31746457 2020
25
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. 61
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
30723320 2019
27
[Involvement of cholesterol metabolism in hypotrichosis simplex]. 61
30745120 2019
28
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. 61
31790498 2019
29
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. 61
30401459 2018
30
A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family. 61
29797736 2018
31
Hereditary hypotrichosis simplex of the scalp. 61
28873114 2017
32
Hereditary hypotrichosis simplex of the scalp. 61
25484430 2014
33
[Alopecia and hypotrichosis in childhood: clinical features and diagnosis]. 61
24898506 2014
34
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. 61
24354445 2014
35
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. 61
23746069 2014
36
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 61
24714551 2014
37
'Black dots' seen under trichoscopy are not specific for alopecia areata. 61
22681306 2012
38
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. 61
22875505 2012
39
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. 61
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
21275938 2011
41
Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses. 61
21628128 2011
42
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. 61
20448140 2010
43
Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript. 61
20163456 2010
44
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. 61
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
19536142 2009
46
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. 61
19766349 2009
47
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. 61
19529952 2009
48
Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. 61
19596793 2009
49
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. 61
18820939 2009
50
[Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome]. 61
19061667 2008

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

Expression for Hypotrichosis Simplex

Search GEO for disease gene expression data for Hypotrichosis Simplex.

Pathways for Hypotrichosis Simplex

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

# Super pathways Score Top Affiliating Genes
1 12.28 WNT3A RB1 LRP5 LPAR6
2
Show member pathways
10.65 WNT3A LRP5
3 10.4 WNT3A LRP5
4
Show member pathways
9.95 WNT3A LRP5

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 for Hypotrichosis Simplex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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