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HHS
MCID: HYP137
MIFTS: 35

Hypotrichosis Simplex (HHS)

Categories: Rare diseases, Skin diseases
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Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hypotrichosis Simplex

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MalaCards integrated aliases for Hypotrichosis Simplex:

Name: Hypotrichosis Simplex 19 58 28 5 71
Hereditary Hypotrichosis Simplex 58 5
Hhs 19

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood 58

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare skin diseases


External Ids:

MESH via Orphanet 44 C537160
ICD10 via Orphanet 32 L65.8
UMLS via Orphanet 72 C1854310
Orphanet 58 ORPHA55654
SNOMED-CT via HPO 69 278040002 56317004
UMLS 71 C1854310
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Summaries for Hypotrichosis Simplex

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GARD: 19 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 genetic changes in the APCDD1 gene on chromosome 18p11.

MalaCards based summary: Hypotrichosis Simplex, also known as hereditary hypotrichosis simplex, is related to hypotrichosis 1 and hypotrichosis 3. An important gene associated with Hypotrichosis Simplex is APCDD1 (APC Down-Regulated 1), and among its related pathways/superpathways are WNT Signaling and Canonical Wnt Pathway. The drugs Anti-Bacterial Agents and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are alopecia and sparse body hair

Orphanet: 58 Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.
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Related Diseases for Hypotrichosis Simplex

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

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 32.8 LIPH APCDD1
2 hypotrichosis 3 32.5 LPAR6 LIPH
3 hypotrichosis 2 31.5 LSS LPAR6 LIPH DSG4 CDH3
4 hypotrichosis 8 31.0 SNRPE LPAR6 LIPH DSG4
5 hypotrichosis 7 30.5 SNRPE LPAR6 LIPH DSG4
6 familial woolly hair syndrome 30.1 LPAR6 LIPH DSG4
7 hypotrichosis 11 29.5 SNRPE LPAR6 LIPH DSG4
8 hypotrichosis 28.4 WNT3A SNRPE RPL21 LSS LRP5 LPAR6
9 hypotrichosis simplex of the scalp 11.6
10 tumoral calcinosis, hyperphosphatemic, familial, 1 11.5
11 dyskeratosis congenita, x-linked 11.3
12 heart-hand syndrome, slovenian type 11.2
13 dyskeratosis congenita, autosomal dominant 1 11.1
14 dyskeratosis congenita, autosomal recessive 5 11.1
15 charge syndrome 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 neurodegeneration with brain iron accumulation 2a 10.6
20 human immunodeficiency virus type 1 10.4
21 alopecia 10.4
22 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
23 substance abuse 10.3
24 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 10.2
25 skin disease 10.2
26 acquired immunodeficiency syndrome 10.2
27 craniodiaphyseal dysplasia, autosomal dominant 10.2 WNT3A LRP5
28 dumping syndrome 10.1
29 tetraamelia syndrome 10.1 WNT3A LRP5
30 hypotrichosis 12 10.1
31 peeling skin syndrome 10.1
32 erythrokeratoderma ''en cocardes'' 10.1
33 osteoporosis-pseudoglioma syndrome 10.1 WNT3A LRP5
34 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
35 fanconi anemia, complementation group e 10.1
36 coronary heart disease 1 10.1
37 diabetes mellitus, ketosis-prone 10.1
38 heart disease 10.1
39 smallpox 10.1
40 children's interstitial lung disease 10.1
41 woolly hair, autosomal recessive 3 10.0 LPAR6 LIPH
42 van buchem disease 10.0 WNT3A LRP5
43 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 10.0 DSG4 CDH3
44 woolly hair, autosomal dominant 10.0 LPAR6 LIPH
45 norrie disease 10.0 WNT3A LRP5 APCDD1
46 osteoporosis, juvenile 10.0 WNT3A LRP5
47 benign chronic pemphigus 10.0 DSG4 CDH3
48 darier-white disease 10.0 DSG4 CDH3
49 alcohol dependence 10.0
50 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0

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



Diseases related to Hypotrichosis Simplex
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Symptoms & Phenotypes for Hypotrichosis Simplex

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Human phenotypes related to Hypotrichosis Simplex:

58 30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001596
2 sparse body hair 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002231
3 sparse eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0045075
4 sparse eyelashes 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000653
5 sparse scalp hair 30 Hallmark (90%) HP:0002209
6 sparse hair 58 Frequent (79-30%)
7 hypotrichosis of the scalp 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hypotrichosis Simplex:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 DSG4 ERCC2 LIPH LRP5
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Drugs & Therapeutics for Hypotrichosis Simplex

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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 Anti-Infective 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

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Genetic Tests for Hypotrichosis Simplex

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Genetic tests related to Hypotrichosis Simplex:

# Genetic test Affiliating Genes
1 Hypotrichosis Simplex 28
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Anatomical Context for Hypotrichosis Simplex

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Organs/tissues related to Hypotrichosis Simplex:

MalaCards : Skin
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Publications for Hypotrichosis Simplex

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Articles related to Hypotrichosis Simplex:

(show top 50) (show all 69)
# Title Authors PMID Year
1
A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family. 62 5
22512811 2012
2
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. 62 5
20393562 2010
3
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. 62 5
10878665 2000
4
Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis. 5
25899282 2015
5
TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription. 5
25620205 2015
6
Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair. 5
25271093 2014
7
Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family. 5
25201209 2014
8
Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood. 5
22449147 2013
9
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship. 5
23039039 2012
10
Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair. 5
21352330 2011
11
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. 5
20213768 2010
12
Trichothiodystrophy: from basic mechanisms to clinical implications. 5
19931493 2010
13
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. 5
19892526 2009
14
A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. 5
9651581 1998
15
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. 5
8571952 1996
16
Hypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin. 62
35633076 2022
17
Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors. 62
35761391 2022
18
A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report. 62
35962736 2022
19
Diffuse congenital hypotrichosis simplex with associated hair shaft fragility. 62
34657286 2022
20
Application of topical gentamicin-a new era in the treatment of genodermatosis. 62
34787828 2021
21
Additional causal SNRPE mutations in hereditary hypotrichosis simplex. 62
33792916 2021
22
Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene. 62
33222230 2021
23
Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin. 62
31746457 2020
24
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. 62
31663161 2020
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. 62
30723320 2019
26
[Involvement of cholesterol metabolism in hypotrichosis simplex]. 62
30745120 2019
27
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. 62
31790498 2019
28
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. 62
30401459 2018
29
A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family. 62
29797736 2018
30
Hereditary hypotrichosis simplex of the scalp. 62
28873114 2017
31
Hereditary hypotrichosis simplex of the scalp. 62
25484430 2014
32
[Alopecia and hypotrichosis in childhood: clinical features and diagnosis]. 62
24898506 2014
33
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. 62
23746069 2014
34
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. 62
24354445 2014
35
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 62
24714551 2014
36
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 62
23246290 2013
37
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. 62
22875505 2012
38
'Black dots' seen under trichoscopy are not specific for alopecia areata. 62
22681306 2012
39
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. 62
25386265 2011
40
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. 62
21412954 2011
41
Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses. 62
21628128 2011
42
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. 62
21275938 2011
43
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. 62
21070332 2011
44
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. 62
20448140 2010
45
Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript. 62
20163456 2010
46
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. 62
20691404 2010
47
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. 62
19751230 2010
48
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. 62
19536142 2009
49
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. 62
19766349 2009
50
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. 62
19529952 2009
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Variations for Hypotrichosis Simplex

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ClinVar genetic disease variations for Hypotrichosis Simplex:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APCDD1 NM_153000.5(APCDD1):c.26T>G (p.Leu9Arg) SNV Pathogenic
 3161 rs267606659 GRCh37: 18:10455004-10455004
GRCh38: 18:10455007-10455007
2 LIPH NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) SNV Pathogenic
 225403 rs201249971 GRCh37: 3:185237080-185237080
GRCh38: 3:185519292-185519292
3 ERCC2 NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) SNV Pathogenic
 16792 rs121913026 GRCh37: 19:45855493-45855493
GRCh38: 19:45352235-45352235
4 CDH3 NM_001793.6(CDH3):c.665_666dup (p.Ser223fs) DUP Pathogenic
 1687039 GRCh37: 16:68712781-68712782
GRCh38: 16:68678878-68678879
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Expression for Hypotrichosis Simplex

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Search GEO for disease gene expression data for Hypotrichosis Simplex.
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Pathways for Hypotrichosis Simplex

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

# Super pathways Score Top Affiliating Genes
1
WNT Signaling 64
11.73 WNT3A LRP5 CDH3
2
Canonical Wnt Pathway 67
10.95 WNT3A CDH3
3
Regulation of FZD by ubiquitination 66
Show member pathways
 10.42 WNT3A LRP5
4
Negative regulation of TCF-dependent signaling by WNT ligand antagonists 66
Show member pathways
 9.95 WNT3A LRP5
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GO Terms for Hypotrichosis Simplex

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

# Name GO ID Score Top Affiliating Genes
1 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.92 WNT3A LRP5

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

# Name GO ID Score Top Affiliating Genes
1 hair cycle process GO:0022405 8.8 ERCC2 CDH3

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 8.92 LRP5 APCDD1
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Sources for Hypotrichosis Simplex

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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