HYPT1
MCID: HYP507
MIFTS: 36

Hypotrichosis 1 (HYPT1)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Hypotrichosis 1

MalaCards integrated aliases for Hypotrichosis 1:

Name: Hypotrichosis 1 57 11 73 28 5 14
Hypt1 57 11 73
Hhs 57 11 73
Hts 57 11 73
Hypotrichosis Simplex 73 71
Hypotrichosis Simplex, Generalized, Hereditary 57
Hereditary Generalized Hypotrichosis Simplex 11
Generalized Hypothricosis Simplex 73
Hypotrichosis Simplex Hereditary 73
Hypotrichosis, Type 1 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
hair loss, progressive, begins about 3-6 months of age
complete loss of scalp hair by 15-20 years of age (some patients)
regrowth of thin and sparse scalp hair observed after cutting (family a)


Classifications:



External Ids:

Disease Ontology 11 DOID:0110698
OMIM® 57 605389
OMIM Phenotypic Series 57 PS605389
MeSH 43 D007039
UMLS 71 C1854310

Summaries for Hypotrichosis 1

OMIM®: 57 Hereditary hypotrichosis simplex (HHS) is a rare form of nonsyndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HHS can be largely divided into 2 forms: the scalp-limited form (e.g., 146520) and the generalized form, such as HYPT1, in which all body hair is affected. HHS is characterized by progressive hair follicle miniaturization, which is a typical feature of androgenetic alopecia (see 109200). HHS can be inherited either as an autosomal dominant or autosomal recessive trait (e.g., HYPT8, 278150) (summary by Shimomura et al., 2010). (605389) (Updated 08-Dec-2022)

MalaCards based summary: Hypotrichosis 1, also known as hypt1, is related to hypotrichosis 2 and hypotrichosis 4. An important gene associated with Hypotrichosis 1 is APCDD1 (APC Down-Regulated 1). 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 sparse eyebrow and sparse eyelashes

UniProtKB/Swiss-Prot: 73 A rare form of non-syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HYPT1 inheritance is autosomal dominant.

Disease Ontology: 11 A hypotrichosis that has material basis in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22.

Related Diseases for Hypotrichosis 1

Diseases in the Hypotrichosis family:

Hypotrichosis 2 Hypotrichosis 4
Hypotrichosis 8 Hypotrichosis 7
Hypotrichosis 1 Hypotrichosis 6
Hypotrichosis 5 Hypotrichosis 3
Hypotrichosis 9 Hypotrichosis 10
Hypotrichosis 11 Hypotrichosis 12
Hypotrichosis 13 Hypotrichosis 14

Diseases related to Hypotrichosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 206)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 2 32.5 LIPH KRT74
2 hypotrichosis 4 32.2 LIPH KRT74
3 hypotrichosis simplex 32.0 LIPH APCDD1
4 hypotrichosis 8 31.7 LIPH KRT74
5 hypotrichosis 3 31.5 LIPH KRT74
6 hypotrichosis 11 30.2 LIPH KRT74
7 familial woolly hair syndrome 30.2 LIPH KRT74
8 hypotrichosis 7 29.9 LIPH KRT74
9 hypotrichosis 29.7 LIPH KRT74 APCDD1
10 hypotrichosis simplex of the scalp 11.6
11 tumoral calcinosis, hyperphosphatemic, familial, 1 11.5
12 dyskeratosis congenita, x-linked 11.3
13 heart-hand syndrome, slovenian type 11.2
14 dyskeratosis congenita, autosomal dominant 1 11.1
15 dyskeratosis congenita, autosomal recessive 5 11.1
16 charge syndrome 11.0
17 hypotrichosis 14 11.0
18 hyperinsulinemic hypoglycemia, familial, 6 10.9
19 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
20 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
21 neurodegeneration with brain iron accumulation 2a 10.6
22 human immunodeficiency virus type 1 10.4
23 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
24 substance abuse 10.3
25 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 10.2
26 skin disease 10.2
27 acquired immunodeficiency syndrome 10.2
28 vitreoretinal degeneration, snowflake type 10.1 SRL MAS1L
29 dumping syndrome 10.1
30 hypotrichosis 12 10.1
31 peeling skin syndrome 10.1
32 erythrokeratoderma ''en cocardes'' 10.1
33 epidermolysis bullosa simplex 1a, generalized severe 10.1 NHS KRT74
34 woolly hair, autosomal dominant 10.1 LIPH KRT74
35 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
36 fanconi anemia, complementation group e 10.1
37 coronary heart disease 1 10.1
38 diabetes mellitus, ketosis-prone 10.1
39 heart disease 10.1
40 smallpox 10.1
41 children's interstitial lung disease 10.1
42 hypotrichosis 6 10.0 LIPH KRT74
43 wilson disease 10.0
44 sleeping sickness 10.0
45 trypanosomiasis 10.0
46 hypotrichosis 13 10.0 LIPH KRT74
47 atrichia with papular lesions 10.0 LIPH KRT74
48 alcohol dependence 10.0
49 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0
50 immune deficiency disease 10.0

Graphical network of the top 20 diseases related to Hypotrichosis 1:



Diseases related to Hypotrichosis 1

Symptoms & Phenotypes for Hypotrichosis 1

Human phenotypes related to Hypotrichosis 1:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sparse eyebrow 30 Very rare (1%) HP:0045075
2 sparse eyelashes 30 Very rare (1%) HP:0000653
3 sparse axillary hair 30 Very rare (1%) HP:0002215
4 sparse pubic hair 30 Very rare (1%) HP:0002225
5 sparse body hair 30 HP:0002231

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Hair:
sparse body hair
normal beard hair
sparse eyebrows (in some patients)
sparse eyelashes (in some patients)
sparse or absent scalp hair
more
Skin Nails Hair Skin:
normal skin
normal sweat glands
normal scalp

Head And Neck Eyes:
sparse eyebrows (in some patients)
sparse eyelashes (in some patients)

Skin Nails Hair Nails:
normal nails

Head And Neck Teeth:
normal teeth

Clinical features from OMIM®:

605389 (Updated 08-Dec-2022)

Drugs & Therapeutics for Hypotrichosis 1

Drugs for Hypotrichosis 1 (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 1

Genetic Tests for Hypotrichosis 1

Genetic tests related to Hypotrichosis 1:

# Genetic test Affiliating Genes
1 Hypotrichosis 1 28 APCDD1

Anatomical Context for Hypotrichosis 1

Organs/tissues related to Hypotrichosis 1:

MalaCards : Skin

Publications for Hypotrichosis 1

Articles related to Hypotrichosis 1:

(show top 50) (show all 58)
# Title Authors PMID Year
1
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. 62 57 5
20393562 2010
2
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. 62 57 5
10878665 2000
3
A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family. 62 5
22512811 2012
4
Hypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin. 62
35633076 2022
5
Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors. 62
35761391 2022
6
A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report. 62
35962736 2022
7
Diffuse congenital hypotrichosis simplex with associated hair shaft fragility. 62
34657286 2022
8
Application of topical gentamicin-a new era in the treatment of genodermatosis. 62
34787828 2021
9
Additional causal SNRPE mutations in hereditary hypotrichosis simplex. 62
33792916 2021
10
Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene. 62
33222230 2021
11
Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin. 62
31746457 2020
12
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. 62
31663161 2020
13
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
14
[Involvement of cholesterol metabolism in hypotrichosis simplex]. 62
30745120 2019
15
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. 62
31790498 2019
16
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. 62
30401459 2018
17
A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family. 62
29797736 2018
18
Hereditary hypotrichosis simplex of the scalp. 62
28873114 2017
19
Hereditary hypotrichosis simplex of the scalp. 62
25484430 2014
20
[Alopecia and hypotrichosis in childhood: clinical features and diagnosis]. 62
24898506 2014
21
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 62
24714551 2014
22
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. 62
24354445 2014
23
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. 62
23746069 2014
24
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 62
23246290 2013
25
A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities. 62
22584530 2012
26
'Black dots' seen under trichoscopy are not specific for alopecia areata. 62
22681306 2012
27
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. 62
22875505 2012
28
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. 62
25386265 2011
29
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. 62
21412954 2011
30
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
31
Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses. 62
21628128 2011
32
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. 62
21070332 2011
33
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. 62
20448140 2010
34
Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript. 62
20163456 2010
35
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. 62
20691404 2010
36
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. 62
19751230 2010
37
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
38
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. 62
19766349 2009
39
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. 62
19529952 2009
40
Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. 62
19596793 2009
41
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. 62
18820939 2009
42
[Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome]. 62
19061667 2008
43
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). 62
18461368 2008
44
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. 62
18297070 2008
45
Hypotrichosis simplex of the scalp. 62
17958879 2007
46
Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion. 62
17001671 2006
47
A case of hereditary hypotrichosis simplex. 62
16987285 2006
48
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. 62
16307662 2005
49
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. 62
12754508 2003
50
Hereditary hypotrichosis simplex: report of a family. 62
12472539 2002

Variations for Hypotrichosis 1

ClinVar genetic disease variations for Hypotrichosis 1:

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

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 1:

73
# Symbol AA change Variation ID SNP ID
1 APCDD1 p.Leu9Arg VAR_063497 rs267606659

Expression for Hypotrichosis 1

Search GEO for disease gene expression data for Hypotrichosis 1.

Pathways for Hypotrichosis 1

GO Terms for Hypotrichosis 1

Biological processes related to Hypotrichosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein destabilization GO:0031648 9.26 SERF1B SERF1A
2 amyloid fibril formation GO:1990000 8.92 SERF1B SERF1A

Molecular functions related to Hypotrichosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carboxylic ester hydrolase activity GO:0052689 8.8 LIPH ACOT8

Sources for Hypotrichosis 1

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
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