HYPT1
MCID: HYP507
MIFTS: 43

Hypotrichosis 1 (HYPT1)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 1

MalaCards integrated aliases for Hypotrichosis 1:

Name: Hypotrichosis 1 57 12 73 29 6 15
Hypt1 57 12 73
Hhs 57 12 73
Hts 57 12 73
Hypotrichosis Simplex 73 71
Hypotrichosis Simplex, Generalized, Hereditary; Hhs 57
Hypotrichosis Simplex, Generalized, Hereditary 57
Hereditary Generalized Hypotrichosis Simplex 12
Generalized Hypothricosis Simplex 73
Hypotrichosis Simplex Hereditary 73
Hypotrichosis, Type 1 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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)


HPO:

31
hypotrichosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110698
OMIM® 57 605389
OMIM Phenotypic Series 57 PS605389
MeSH 44 D007039
SNOMED-CT via HPO 68 263681008
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, 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 05-Mar-2021)

MalaCards based summary : Hypotrichosis 1, also known as hypt1, is related to hypotrichosis 2 and substance abuse. An important gene associated with Hypotrichosis 1 is APCDD1 (APC Down-Regulated 1), and among its related pathways/superpathways are Allograft rejection and Immune response NFAT in immune response. The drugs Anti-Infective Agents and Anti-Bacterial Agents have been mentioned in the context of this disorder. Related phenotypes are sparse eyebrow and sparse eyelashes

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22.

UniProtKB/Swiss-Prot : 73 Hypotrichosis 1: 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.

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 616)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 2 33.2 TNF PPIG LIPH H2AC18 GAPDH CD4
2 substance abuse 31.2 H2AC18 CD4 CCR6 ALB
3 variola major 30.7 CD8A CD4
4 hypotrichosis 30.7 LIPH H2AC18 CCR6 APCDD1
5 acquired immunodeficiency syndrome 30.7 TNF ITGAM IL2 CD4 CCR6 ALB
6 alopecia universalis congenita 30.6 IL2 CD8A CD4
7 acute cystitis 30.5 TNF H2AC18 CD4 CCR6 ALB
8 alcohol use disorder 30.5 H2AC18 GRM5 CCR6 ALB
9 skin disease 30.5 TNF IL2 ICOSLG H2AC18 CD8A CD4
10 schistosomiasis 30.5 TNF IL2 GAPDH ALB
11 thyroid gland disease 30.5 ICOSLG H2AC18 CD4 CCR6 ALB
12 lysosomal storage disease 30.5 TNF H2AC18 CCR6 ALB
13 metachromatic leukodystrophy 30.4 PTPRC ITGAM GAPDH ALB ACTB
14 chickenpox 30.4 TNF IL2 ICOSLG CD8A CD4 CCR6
15 plague 30.4 TNF IL2 H2AC18 CD8A CD4 ALB
16 migraine with or without aura 1 30.4 TNF PPIG H2AC18 GRM5 ALB
17 disease by infectious agent 30.2 TNF PTPRC PPIG IL2 ICOSLG H2AC18
18 immune deficiency disease 30.2 TNF PTPRC ITGAM IL2 ICOSLG H2AC18
19 disease of mental health 30.1 TNF PTPRC PPIG LGALS4 KDM4C ITGAM
20 peripheral nervous system disease 30.1 TNF PTPRC KDM4C IL2 ICOSLG H2AC18
21 leukemia, acute myeloid 30.1 TNF PTPRC KDM4C ITGAM IL2 ICOSLG
22 tumoral calcinosis, hyperphosphatemic, familial, 1 11.5
23 hypotrichosis simplex of the scalp 11.3
24 hypotrichosis 4 11.3
25 dyskeratosis congenita, x-linked 11.3
26 heart-hand syndrome, slovenian type 11.2
27 hypotrichosis 8 11.1
28 charge syndrome 11.1
29 marie unna congenital hypotrichosis 11.1
30 dyskeratosis congenita, autosomal dominant 1 11.0
31 dyskeratosis congenita, autosomal recessive 5 11.0
32 hypotrichosis 3 10.9
33 hypotrichosis 14 10.9
34 hyperinsulinemic hypoglycemia, familial, 6 10.9
35 hypotrichosis simplex 10.9
36 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
37 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
38 hoyeraal hreidarsson syndrome 10.9
39 adult acute lymphocytic leukemia 10.6 CD8A CD4 CCR6
40 cork-handlers' disease 10.6 CD8A CD4 ALB
41 anti-basement membrane glomerulonephritis 10.6 CD4 CCR6 ALB
42 riedel's fibrosing thyroiditis 10.6 CD4 ALB
43 esophageal candidiasis 10.6 CD8A CD4 CCR6
44 toxic megacolon 10.6 TNF CCR6 ALB
45 necrotic uveal melanoma 10.6 CD8A CD4
46 meningovascular neurosyphilis 10.6 TNF CD4 ALB
47 legume allergy 10.6 ICOSLG CD4 CCR6
48 fruit allergy 10.6 ICOSLG CD4 CCR6
49 gastrointestinal tuberculosis 10.6 TNF CD4 ALB
50 intestinal tuberculosis 10.6 TNF CD4 ALB

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:

31
# Description HPO Frequency HPO Source Accession
1 sparse eyebrow 31 very rare (1%) HP:0045075
2 sparse eyelashes 31 very rare (1%) HP:0000653
3 sparse axillary hair 31 very rare (1%) HP:0002215
4 sparse pubic hair 31 very rare (1%) HP:0002225
5 sparse body hair 31 HP:0002231

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 Nails:
normal nails

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

Skin Nails Hair Skin:
normal skin
normal sweat glands
normal scalp

Head And Neck Teeth:
normal teeth

Clinical features from OMIM®:

605389 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Hypotrichosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.17 ACTB APCDD1 CD4 IL2 KDM4C PTPRC

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-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 1

Genetic Tests for Hypotrichosis 1

Genetic tests related to Hypotrichosis 1:

# Genetic test Affiliating Genes
1 Hypotrichosis 1 29 APCDD1

Anatomical Context for Hypotrichosis 1

Publications for Hypotrichosis 1

Articles related to Hypotrichosis 1:

# Title Authors PMID Year
1
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. 6 57
20393562 2010
2
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. 57 6
10878665 2000
3
A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family. 6
22512811 2012
4
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. 61
22584530 2012

Variations for Hypotrichosis 1

ClinVar genetic disease variations for Hypotrichosis 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APCDD1 NM_153000.5(APCDD1):c.26T>G (p.Leu9Arg) SNV Pathogenic 3161 rs267606659 18:10455004-10455004 18:10455007-10455007
2 LIPH NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) SNV Pathogenic 225403 rs201249971 3:185237080-185237080 3:185519292-185519292

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

Pathways related to Hypotrichosis 1 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 TNF IL2 ICOSLG CD8A CD4 ACTB
2
Show member pathways
12.48 TNF PTPRC IL2 ICOSLG CD4
3
Show member pathways
12.43 TNF PTPRC IL2 CD8A CD4
4
Show member pathways
12.15 PTPRC IL2 ICOSLG CD4 ACTB
5 11.89 PTPRC ITGAM ICOSLG CD8A CD4
6 11.79 TNF IL2 CD8A CD4 ACTB
7 11.7 TNF ITGAM CD8A CD4
8 11.7 TNF PTPRC ITGAM IL2 CD8A CD4
9
Show member pathways
11.61 TNF IL2 CD4
10 11.54 TNF ICOSLG CCR6
11
Show member pathways
11.5 TNF IL2 CD8A
12 11.37 TNF ITGAM ACTB
13 11.3 TNF PTPRC ITGAM IL2 CD8A CD4
14 11.23 PTPRC CD8A CD4
15 11.07 TNF IL2 CD4
16 11.07 TNF PTPRC ITGAM IL2 CD8A CD4

GO Terms for Hypotrichosis 1

Cellular components related to Hypotrichosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 TNF PTPRC LIPH LGALS4 ITGAM ICOSLG
2 membrane raft GO:0045121 9.46 TNF PTPRC ITGAM CD4
3 external side of plasma membrane GO:0009897 9.17 TNF PTPRC ITGAM ICOSLG CD8A CD4

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.85 TNF IL2 CD8A CD4 CCR6
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.71 TNF PTPRC DENND2B CD4
3 positive regulation of T cell proliferation GO:0042102 9.54 PTPRC IL2 CD4
4 positive regulation of protein kinase activity GO:0045860 9.5 TNF PTPRC CD4
5 positive regulation of isotype switching to IgG isotypes GO:0048304 9.43 PTPRC IL2
6 T cell differentiation GO:0030217 9.33 PTPRC IL2 CD4
7 positive regulation of humoral immune response mediated by circulating immunoglobulin GO:0002925 9.26 TNF PTPRC
8 DN2 thymocyte differentiation GO:1904155 8.96 PTPRC CCR6
9 T cell activation GO:0042110 8.92 PTPRC ICOSLG CD8A CD4

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.23 TNF ICOSLG GRM5 GAPDH CD4 APCDD1

Sources for Hypotrichosis 1

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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