HYPT1
MCID: HYP507
MIFTS: 39

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 56 12 73 29 6 15
Hypt1 56 12 73
Hhs 56 12 73
Hts 56 12 73
Hypotrichosis Simplex 73 71
Hypotrichosis Simplex, Generalized, Hereditary; Hhs 56
Hypotrichosis Simplex, Generalized, Hereditary 56
Hereditary Generalized Hypotrichosis Simplex 12
Generalized Hypothricosis Simplex 73
Hypotrichosis Simplex Hereditary 73
Hypotrichosis, Type 1 39

Characteristics:

OMIM:

56
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)



Classifications:



External Ids:

Disease Ontology 12 DOID:0110698
OMIM 56 605389
OMIM Phenotypic Series 56 PS605389
MeSH 43 D007039
SNOMED-CT via HPO 68 258211005 263681008
UMLS 71 C1854310

Summaries for Hypotrichosis 1

OMIM : 56 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)

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 Cell adhesion molecules (CAMs) and Dendritic Cells Developmental Lineage Pathway. The drugs Anti-Bacterial Agents and Gentamicins have been mentioned in the context of this disorder. Affiliated tissues include skin, and 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.

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 658)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 2 34.6 PRDM10 HUWE1 H2AC18
2 substance abuse 31.4 H2AC18 CD4 CCR6 ALB
3 sleeping sickness 31.0 PRDM10 H2AC18 GAPDH
4 variola major 31.0 CD8A CD4
5 hypotrichosis 30.9 KDM4C H2AC18 CCR6 APCDD1
6 dengue disease 30.7 ICOSLG H2AC18 CD8A
7 chickenpox 30.7 CD8A CD4 CCR6 ALB
8 disease of mental health 30.7 PRDM10 KDM4C H2AC18 CCR6 ALB
9 autosomal recessive disease 30.7 PRDM10 KDM4C ICOSLG H2AC18 CCR6
10 alcohol use disorder 30.7 KDM4C H2AC18 CD4 CCR6 ALB
11 skin disease 30.7 ICOSLG H2AC18 CD8A CD4 CCR6 ALB
12 plague 30.6 PRDM10 CD8A CD4 ALB
13 thyroid gland disease 30.6 ICOSLG H2AC18 CD4 CCR6 ALB
14 celiac disease 1 30.6 PTPRC ICOSLG H2AC18 CD8A CD4 CCR6
15 severe combined immunodeficiency 30.5 PTPRC ICOSLG H2AC18 CD4 CCR6
16 metachromatic leukodystrophy 30.4 RPS3A PTPRC PRDM10 HUWE1 GAPDH ALB
17 leukemia, acute lymphoblastic 30.4 PTPRC KDM4C ICOSLG H2AC18 CD8A CD4
18 body mass index quantitative trait locus 11 30.3 PRDM10 KDM4C ICOSLG H2AC18 GAPDH CD4
19 leukemia, chronic lymphocytic 30.3 PTPRC KDM4C ICOSLG H2AC18 GAPDH CD8A
20 peripheral nervous system disease 30.3 PRDM10 ICOSLG H2AC18 GAPDH CD8A CD4
21 leukemia, acute myeloid 30.1 RPS3A PTPRC PRDM10 LSR KDM4C ICOSLG
22 hair disease 30.0 PRDM10 LSR KDM4C ICOSLG HUWE1 H2AC18
23 hypotrichosis simplex of the scalp 12.6
24 hashimoto thyroiditis 12.1
25 tumoral calcinosis, hyperphosphatemic, familial, 1 12.0
26 hemochromatosis, type 1 11.8
27 hypogonadotropic hypogonadism 7 with or without anosmia 11.8
28 dyskeratosis congenita, x-linked 11.8
29 heart-hand syndrome, slovenian type 11.7
30 hypogonadotropic hypogonadism 11.7
31 hypotrichosis 8 11.7
32 ehlers-danlos syndrome, hypermobility type 11.5
33 hypotrichosis 4 11.5
34 hypotrichosis 7 11.4
35 hypogonadotropic hypogonadism 15 with or without anosmia 11.4
36 hypothalamic hamartomas 11.3
37 marie unna congenital hypotrichosis 11.3
38 charge syndrome 11.3
39 autoimmune thyroid disease 2 11.3
40 hypotrichosis 3 11.3
41 hypotrichosis 14 11.3
42 dyskeratosis congenita, autosomal dominant 1 11.2
43 hypogonadotropic hypogonadism 2 with or without anosmia 11.2
44 dyskeratosis congenita, autosomal recessive 5 11.2
45 kallmann syndrome 11.2
46 hoyeraal hreidarsson syndrome 11.2
47 hyperinsulinemic hypoglycemia, familial, 6 11.2
48 hypotrichosis simplex 11.2
49 hypogonadotropic hypogonadism 3 with or without anosmia 11.0
50 hypogonadotropic hypogonadism 4 with or without anosmia 11.0

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:

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:

56
Skin Nails Hair Skin:
normal skin
normal sweat glands
normal scalp

Head And Neck Teeth:
normal teeth

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

Skin Nails Hair Nails:
normal nails

Skin Nails Hair Hair:
normal beard hair
sparse eyebrows (in some patients)
sparse or absent scalp hair
hypotrichosis simplex, generalized
normal scalp hair density at birth
more

Clinical features from OMIM:

605389

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 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 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

MalaCards organs/tissues related to Hypotrichosis 1:

40
Skin

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. 56 6
20393562 2010
2
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. 56 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

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:

# Super pathways Score Top Affiliating Genes
1 11.63 PTPRC ICOSLG CD8A CD4
2 11.3 PTPRC CD8A CD4
3 10.83 PTPRC CD8A CD4 CCR6
4 10.71 PTPRC 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 extracellular exosome GO:0070062 9.61 RPS3A PTPRC LSR ICOSLG HUWE1 H2AC18
2 external side of plasma membrane GO:0009897 9.02 PTPRC ICOSLG CD8A CD4 CCR6

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.16 PTPRC CD4
2 DN2 thymocyte differentiation GO:1904155 8.96 PTPRC CCR6
3 T cell activation GO:0042110 8.92 PTPRC ICOSLG CD8A CD4

Sources for Hypotrichosis 1

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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