HYPT1
MCID: HYP507
MIFTS: 45

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 75 15
Hypt1 57 12 75
Hhs 57 12 75
Hts 57 12 75
Hypotrichosis Simplex 75 73
Hypotrichosis Simplex, Generalized, Hereditary; Hhs 57
Hypotrichosis Simplex, Generalized, Hereditary 57
Hereditary Generalized Hypotrichosis Simplex 12
Generalized Hypothricosis Simplex 75
Hypotrichosis Simplex Hereditary 75
Hypotrichosis, Type 1 40

Characteristics:

OMIM:

57
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:

OMIM 57 605389
Disease Ontology 12 DOID:0110698
MedGen 42 C1854310
MeSH 44 D007039
UMLS 73 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)

MalaCards based summary : Hypotrichosis 1, also known as hypt1, is related to tumoral calcinosis, hyperphosphatemic, familial, 1 and hypotrichosis simplex of the scalp. An important gene associated with Hypotrichosis 1 is APCDD1 (APC Down-Regulated 1), and among its related pathways/superpathways are Presynaptic function of Kainate receptors and Signaling by Hedgehog. Affiliated tissues include skin, eye and colon, and related phenotypes are hypotrichosis and sparse body hair

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

UniProtKB/Swiss-Prot : 75 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

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

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 tumoral calcinosis, hyperphosphatemic, familial, 1 31.7 DHH IHH NAP1L2 PPP1R12B SCUBE2 SHH
2 hypotrichosis simplex of the scalp 12.4
3 hypotrichosis 2 12.1
4 hypotrichosis 4 11.6
5 hemochromatosis, type 1 11.6
6 dyskeratosis congenita, x-linked 11.6
7 hypogonadotropic hypogonadism 7 with or without anosmia 11.6
8 heart-hand syndrome, slovenian type 11.6
9 hashimoto thyroiditis 11.4
10 ehlers-danlos syndrome, hypermobility type 11.4
11 hypotrichosis 7 11.2
12 hypothalamic hamartomas 11.2
13 hypotrichosis 8 11.2
14 marie unna congenital hypotrichosis 11.2
15 charge syndrome 11.2
16 autoimmune thyroid disease 2 11.1
17 hypotrichosis 3 11.1
18 dyskeratosis congenita, autosomal dominant 1 11.0
19 hypogonadotropic hypogonadism 2 with or without anosmia 11.0
20 dyskeratosis congenita, autosomal recessive 5 11.0
21 kallmann syndrome 11.0
22 hyperinsulinemic hypoglycemia, familial, 6 11.0
23 hypotrichosis simplex 11.0
24 hypogonadotropic hypogonadism 3 with or without anosmia 10.9
25 hypogonadotropic hypogonadism 4 with or without anosmia 10.9
26 hypogonadotropic hypogonadism 5 with or without anosmia 10.9
27 hypogonadotropic hypogonadism 6 with or without anosmia 10.9
28 hypogonadotropic hypogonadism 8 with or without anosmia 10.9
29 hypogonadotropic hypogonadism 9 with or without anosmia 10.9
30 hypogonadotropic hypogonadism 10 with or without anosmia 10.9
31 hypogonadotropic hypogonadism 11 with or without anosmia 10.9
32 hypogonadotropic hypogonadism 12 with or without anosmia 10.9
33 hypogonadotropic hypogonadism 13 with or without anosmia 10.9
34 hypogonadotropic hypogonadism 14 with or without anosmia 10.9
35 hypogonadotropic hypogonadism 15 with or without anosmia 10.9
36 hypogonadotropic hypogonadism 16 with or without anosmia 10.9
37 hypogonadotropic hypogonadism 17 with or without anosmia 10.9
38 hypogonadotropic hypogonadism 18 with or without anosmia 10.9
39 hypogonadotropic hypogonadism 19 with or without anosmia 10.9
40 hypogonadotropic hypogonadism 20 with or without anosmia 10.9
41 hypogonadotropic hypogonadism 21 with or without anosmia 10.9
42 hypogonadotropic hypogonadism 22 with or without anosmia 10.9
43 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
44 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
45 pallister-hall syndrome 10.3
46 fibrosarcoma 10.3
47 colon adenocarcinoma 10.2
48 adenocarcinoma 10.2
49 heparin-induced thrombocytopenia 10.2
50 dumping syndrome 10.2

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



Diseases related to Hypotrichosis 1

Symptoms & Phenotypes for Hypotrichosis 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hypotrichosis 1:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 32 obligate (100%) HP:0001006
2 sparse body hair 32 HP:0002231
3 sparse eyebrow 32 very rare (1%) HP:0045075
4 sparse eyelashes 32 very rare (1%) HP:0000653
5 sparse pubic hair 32 very rare (1%) HP:0002225
6 sparse axillary hair 32 very rare (1%) HP:0002215

MGI Mouse Phenotypes related to Hypotrichosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 DHH IHH NAP1L2 NTS NTSR2 PTS
2 no phenotypic analysis MP:0003012 9.02 ADD3 APCDD1 IHH NTS SHH

Drugs & Therapeutics for Hypotrichosis 1

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 1

Genetic Tests for Hypotrichosis 1

Anatomical Context for Hypotrichosis 1

MalaCards organs/tissues related to Hypotrichosis 1:

41
Skin, Eye, Colon, Heart, Prostate, Thyroid, Neutrophil

Publications for Hypotrichosis 1

Articles related to Hypotrichosis 1:

# Title Authors Year
1
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. ( 22584530 )
2012

Variations for Hypotrichosis 1

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

75
# Symbol AA change Variation ID SNP ID
1 APCDD1 p.Leu9Arg VAR_063497 rs267606659

ClinVar genetic disease variations for Hypotrichosis 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APCDD1 NM_153000.4(APCDD1): c.26T> G (p.Leu9Arg) single nucleotide variant Pathogenic rs267606659 GRCh37 Chromosome 18, 10455004: 10455004
2 APCDD1 NM_153000.4(APCDD1): c.26T> G (p.Leu9Arg) single nucleotide variant Pathogenic rs267606659 GRCh38 Chromosome 18, 10455007: 10455007

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:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.74 DHH IHH SHH
2 negative regulation of cell differentiation GO:0045596 9.61 IHH SHH
3 heart looping GO:0001947 9.6 IHH SHH
4 embryonic digit morphogenesis GO:0042733 9.59 IHH SHH
5 negative regulation of Wnt signaling pathway GO:0030178 9.58 APCDD1 SHH
6 hair follicle development GO:0001942 9.58 APCDD1 SHH
7 liver regeneration GO:0097421 9.56 IHH TYMS
8 positive regulation of smoothened signaling pathway GO:0045880 9.55 IHH SHH
9 developmental growth GO:0048589 9.54 SHH TYMS
10 branching involved in blood vessel morphogenesis GO:0001569 9.52 IHH SHH
11 pancreas development GO:0031016 9.51 IHH SHH
12 positive regulation of mesenchymal cell proliferation GO:0002053 9.49 IHH SHH
13 vasculature development GO:0001944 9.48 IHH SHH
14 embryonic pattern specification GO:0009880 9.46 IHH SHH
15 cell fate specification GO:0001708 9.43 IHH SHH
16 embryonic digestive tract morphogenesis GO:0048557 9.4 IHH SHH
17 somite development GO:0061053 9.37 IHH SHH
18 smoothened signaling pathway GO:0007224 9.33 DHH IHH SHH
19 positive regulation of alpha-beta T cell differentiation GO:0046638 9.32 IHH SHH
20 positive regulation of T cell differentiation in thymus GO:0033089 9.26 IHH SHH
21 negative regulation of alpha-beta T cell differentiation GO:0046639 8.96 IHH SHH
22 intein-mediated protein splicing GO:0016539 8.62 IHH SHH

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 DHH IHH SCUBE2 SHH
2 patched binding GO:0005113 8.8 DHH IHH SHH

Sources for Hypotrichosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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