HHS
MCID: HYP137
MIFTS: 37

Hypotrichosis Simplex (HHS)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis Simplex

MalaCards integrated aliases for Hypotrichosis Simplex:

Name: Hypotrichosis Simplex 53 59 29 6 72
Hereditary Hypotrichosis Simplex 59 37
Hhs 53

Characteristics:

Orphanet epidemiological data:

59
hypotrichosis simplex
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

KEGG 37 H00786
MESH via Orphanet 45 C537160
ICD10 via Orphanet 34 L65.8
UMLS via Orphanet 73 C1854310
Orphanet 59 ORPHA55654
UMLS 72 C1854310

Summaries for Hypotrichosis Simplex

NIH Rare Diseases : 53 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 8 and woolly hair syndrome. An important gene associated with Hypotrichosis Simplex is APCDD1 (APC Down-Regulated 1), and among its related pathways/superpathways are Regulation of FZD by ubiquitination and Wnt signaling network. The drugs Gentamicins 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

KEGG : 37
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 183)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 8 32.0 LPAR6 LIPH DSG4
2 woolly hair syndrome 30.5 LPAR6 LIPH
3 hypotrichosis 28.6 SNRPE RPL21 LPAR6 LIPH DSG4 CDSN
4 hypotrichosis simplex of the scalp 12.5
5 hypotrichosis 2 12.4
6 hypotrichosis 3 12.4
7 hypotrichosis 1 12.4
8 tumoral calcinosis, hyperphosphatemic, familial, 1 12.0
9 hemochromatosis, type 1 11.8
10 hypogonadotropic hypogonadism 7 with or without anosmia 11.8
11 dyskeratosis congenita, x-linked 11.8
12 heart-hand syndrome, slovenian type 11.7
13 hypogonadotropic hypogonadism 11.7
14 hypogonadotropic hypogonadism 15 with or without anosmia 11.4
15 hypothalamic hamartomas 11.3
16 marie unna congenital hypotrichosis 11.3
17 charge syndrome 11.3
18 dyskeratosis congenita, autosomal dominant 1 11.2
19 hypogonadotropic hypogonadism 2 with or without anosmia 11.2
20 dyskeratosis congenita, autosomal recessive 5 11.2
21 kallmann syndrome 11.2
22 hyperinsulinemic hypoglycemia, familial, 6 11.2
23 hypogonadotropic hypogonadism 3 with or without anosmia 11.0
24 hypogonadotropic hypogonadism 4 with or without anosmia 11.0
25 hypogonadotropic hypogonadism 5 with or without anosmia 11.0
26 hypogonadotropic hypogonadism 6 with or without anosmia 11.0
27 hypogonadotropic hypogonadism 8 with or without anosmia 11.0
28 hypogonadotropic hypogonadism 9 with or without anosmia 11.0
29 hypogonadotropic hypogonadism 10 with or without anosmia 11.0
30 hypogonadotropic hypogonadism 11 with or without anosmia 11.0
31 hypogonadotropic hypogonadism 12 with or without anosmia 11.0
32 hypogonadotropic hypogonadism 13 with or without anosmia 11.0
33 hypogonadotropic hypogonadism 14 with or without anosmia 11.0
34 hypogonadotropic hypogonadism 16 with or without anosmia 11.0
35 hypogonadotropic hypogonadism 17 with or without anosmia 11.0
36 hypogonadotropic hypogonadism 18 with or without anosmia 11.0
37 hypogonadotropic hypogonadism 19 with or without anosmia 11.0
38 hypogonadotropic hypogonadism 20 with or without anosmia 11.0
39 hypogonadotropic hypogonadism 21 with or without anosmia 11.0
40 hypogonadotropic hypogonadism 22 with or without anosmia 11.0
41 tumoral calcinosis, hyperphosphatemic, familial, 2 11.0
42 tumoral calcinosis, hyperphosphatemic, familial, 3 11.0
43 hoyeraal hreidarsson syndrome 11.0
44 human immunodeficiency virus type 1 10.5
45 alopecia 10.4
46 substance abuse 10.3
47 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
48 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
49 dumping syndrome 10.2
50 hypotrichosis 11 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:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
2 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
3 sparse eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000653
4 hypotrichosis of the scalp 59 32 hallmark (90%) Very frequent (99-80%) HP:0004782
5 sparse and thin eyebrow 32 hallmark (90%) HP:0000535
6 sparse hair 59 Frequent (79-30%)
7 sparse eyebrow 59 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 Gentamicins Phase 2
2 Anti-Bacterial Agents 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 Not yet recruiting 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 Hypotrichosis Simplex 29 APCDD1

Anatomical Context for Hypotrichosis Simplex

MalaCards organs/tissues related to Hypotrichosis Simplex:

41
Skin

Publications for Hypotrichosis Simplex

Articles related to Hypotrichosis Simplex:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 38 71
23246290 2013
2
A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family. 38 71
22512811 2012
3
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. 38 71
21412954 2011
4
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. 38 71
21070332 2011
5
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. 38 71
19751230 2010
6
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. 38 71
20393562 2010
7
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). 38 71
18461368 2008
8
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. 38 71
18297070 2008
9
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. 38 71
10878665 2000
10
Hereditary hypotrichosis simplex. 38 71
9621144 1998
11
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. 71
21426374 2011
12
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. 71
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. 71
19365138 2009
14
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). 71
18445047 2008
15
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. 71
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. 71
17392831 2007
17
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. 71
17333281 2007
18
Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. 71
17095700 2006
19
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. 71
16575393 2006
20
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. 71
16543896 2006
21
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. 71
16439973 2006
22
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. 71
12705872 2003
23
[Involvement of cholesterol metabolism in hypotrichosis simplex]. 38
30745120 2019
24
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. 38
30723320 2019
25
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. 38
30401459 2018
26
A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family. 38
29797736 2018
27
Hereditary hypotrichosis simplex of the scalp. 38
28873114 2017
28
Hereditary hypotrichosis simplex of the scalp. 38
25484430 2014
29
[Alopecia and hypotrichosis in childhood: clinical features and diagnosis]. 38
24898506 2014
30
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 38
24714551 2014
31
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. 38
23746069 2014
32
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. 38
24354445 2014
33
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. 38
22875505 2012
34
'Black dots' seen under trichoscopy are not specific for alopecia areata. 38
22681306 2012
35
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. 38
25386265 2011
36
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. 38
21275938 2011
37
Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses. 38
21628128 2011
38
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. 38
20448140 2010
39
Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript. 38
20163456 2010
40
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. 38
20691404 2010
41
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. 38
19536142 2009
42
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. 38
19766349 2009
43
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. 38
19529952 2009
44
Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. 38
19596793 2009
45
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. 38
18820939 2009
46
[Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome]. 38
19061667 2008
47
Hypotrichosis simplex of the scalp. 38
17958879 2007
48
Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion. 38
17001671 2006
49
A case of hereditary hypotrichosis simplex. 38
16987285 2006
50
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. 38
16307662 2005

Variations for Hypotrichosis Simplex

ClinVar genetic disease variations for Hypotrichosis Simplex:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 APCDD1 NM_153000.5(APCDD1): c.26T> G (p.Leu9Arg) single nucleotide variant Pathogenic rs267606659 18:10455004-10455004 18:10455007-10455007

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 keratinocyte differentiation GO:0030216 9.26 DSG4 CDSN
2 canonical Wnt signaling pathway GO:0060070 9.16 WNT3A LRP5
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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