HHS
MCID: HYP137
MIFTS: 35

Hypotrichosis Simplex (HHS)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis Simplex

MalaCards integrated aliases for Hypotrichosis Simplex:

Name: Hypotrichosis Simplex 52 58 71
Hereditary Hypotrichosis Simplex 58 36 6
Hhs 52

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:

KEGG 36 H00786
MESH via Orphanet 44 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

NIH Rare Diseases : 52 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 Regulation of FZD by ubiquitination and Wnt signaling network. The drugs Anti-Bacterial Agents and Gentamicins have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are alopecia and sparse body hair

KEGG : 36 Hereditary hypotrichosis (HSS) is a rare autosomal dominant form of non-syndromic hair loss that affects men and women equally. It is characterized by progressing hair loss from childhood, culminating in an almost complete loss of scalp hair by the third decade.

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 200)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 3 33.8 LPAR6 LIPH
2 hypotrichosis 2 33.5 LSS CDSN
3 hypotrichosis 8 31.8 LPAR6 LIPH DSG4 CDSN
4 hypotrichosis 11 29.9 SNRPE LPAR6 LIPH
5 familial woolly hair syndrome 29.7 LPAR6 LIPH DSG4 CDSN
6 hypotrichosis 27.0 WNT3A SNRPE RPL21 LSS LRP5 LPAR6
7 hypotrichosis simplex of the scalp 12.6
8 hypotrichosis 1 12.4
9 tumoral calcinosis, hyperphosphatemic, familial, 1 12.0
10 hemochromatosis, type 1 11.8
11 hypogonadotropic hypogonadism 7 with or without anosmia 11.8
12 dyskeratosis congenita, x-linked 11.8
13 heart-hand syndrome, slovenian type 11.7
14 hypogonadotropic hypogonadism 11.7
15 hypogonadotropic hypogonadism 15 with or without anosmia 11.4
16 hypothalamic hamartomas 11.3
17 marie unna congenital hypotrichosis 11.3
18 charge syndrome 11.3
19 dyskeratosis congenita, autosomal dominant 1 11.2
20 hypogonadotropic hypogonadism 2 with or without anosmia 11.2
21 dyskeratosis congenita, autosomal recessive 5 11.2
22 kallmann syndrome 11.2
23 hoyeraal hreidarsson syndrome 11.2
24 hyperinsulinemic hypoglycemia, familial, 6 11.2
25 hypogonadotropic hypogonadism 3 with or without anosmia 11.0
26 hypogonadotropic hypogonadism 4 with or without anosmia 11.0
27 hypogonadotropic hypogonadism 5 with or without anosmia 11.0
28 hypogonadotropic hypogonadism 6 with or without anosmia 11.0
29 hypogonadotropic hypogonadism 8 with or without anosmia 11.0
30 hypogonadotropic hypogonadism 9 with or without anosmia 11.0
31 hypogonadotropic hypogonadism 10 with or without anosmia 11.0
32 hypogonadotropic hypogonadism 11 with or without anosmia 11.0
33 hypogonadotropic hypogonadism 12 with or without anosmia 11.0
34 hypogonadotropic hypogonadism 13 with or without anosmia 11.0
35 hypogonadotropic hypogonadism 14 with or without anosmia 11.0
36 hypogonadotropic hypogonadism 16 with or without anosmia 11.0
37 hypogonadotropic hypogonadism 17 with or without anosmia 11.0
38 hypogonadotropic hypogonadism 18 with or without anosmia 11.0
39 hypogonadotropic hypogonadism 19 with or without anosmia 11.0
40 hypogonadotropic hypogonadism 20 with or without anosmia 11.0
41 hypogonadotropic hypogonadism 21 with or without anosmia 11.0
42 hypogonadotropic hypogonadism 22 with or without anosmia 11.0
43 bombay phenotype 11.0
44 tumoral calcinosis, hyperphosphatemic, familial, 2 11.0
45 tumoral calcinosis, hyperphosphatemic, familial, 3 11.0
46 human immunodeficiency virus type 1 10.5
47 alopecia 10.4
48 substance abuse 10.3
49 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
50 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2

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%)

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-Bacterial Agents Phase 2
2 Gentamicins Phase 2
3 Anti-Infective Agents 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

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 62)
# 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. 6 61
21412954 2011
4
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. 6 61
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. 6 61
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. 6 61
18297070 2008
9
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. 61 6
10878665 2000
10
Hereditary hypotrichosis simplex. 6 61
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 are associated with monilethrix-like congenital hypotrichosis. 6
16439973 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 underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. 6
16543896 2006
22
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. 6
12705872 2003
23
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. 61
31663161 2020
24
Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin. 61
31746457 2019
25
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
26
[Involvement of cholesterol metabolism in hypotrichosis simplex]. 61
30745120 2019
27
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. 61
31790498 2019
28
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. 61
30401459 2018
29
A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family. 61
29797736 2018
30
Hereditary hypotrichosis simplex of the scalp. 61
28873114 2017
31
Hereditary hypotrichosis simplex of the scalp. 61
25484430 2014
32
[Alopecia and hypotrichosis in childhood: clinical features and diagnosis]. 61
24898506 2014
33
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 61
24714551 2014
34
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. 61
23746069 2014
35
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. 61
24354445 2014
36
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. 61
22875505 2012
37
'Black dots' seen under trichoscopy are not specific for alopecia areata. 61
22681306 2012
38
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. 61
25386265 2011
39
Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses. 61
21628128 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
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. 61
20448140 2010
42
Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript. 61
20163456 2010
43
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. 61
20691404 2010
44
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
45
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. 61
19766349 2009
46
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. 61
19529952 2009
47
Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. 61
19596793 2009
48
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. 61
18820939 2009
49
[Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome]. 61
19061667 2008
50
Hypotrichosis simplex of the scalp. 61
17958879 2007

Variations for Hypotrichosis Simplex

ClinVar genetic disease variations for Hypotrichosis Simplex:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LIPH NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)SNV Pathogenic/Likely pathogenic 225403 rs201249971 3:185237080-185237080 3:185519292-185519292

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
Show member pathways
10.65 WNT3A LRP5
2 10.4 WNT3A LRP5
3
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 canonical Wnt signaling pathway GO:0060070 9.26 WNT3A LRP5
2 keratinocyte differentiation GO:0030216 9.16 DSG4 CDSN
3 hair follicle development GO:0001942 8.96 DSG4 APCDD1
4 Wnt signaling pathway GO:0016055 8.8 WNT3A LRP5 APCDD1

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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