AA1
MCID: ALP039
MIFTS: 21

Alopecia Areata 1 (AA1)

Categories: Immune diseases, Mental diseases, Rare diseases, Skin diseases

Aliases & Classifications for Alopecia Areata 1

MalaCards integrated aliases for Alopecia Areata 1:

Name: Alopecia Areata 1 57 13 70
Aa1 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
multifactorial

Miscellaneous:
one of the most common autoimmune diseases
may coexist with autoimmune vitiligo or thyroiditis
alopecia may spontaneously regress, become chronic, or spread diffusely


HPO:

31
alopecia areata 1:
Inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM® 57 104000
OMIM Phenotypic Series 57 PS203655
MedGen 41 C1863094
UMLS 70 C1863094

Summaries for Alopecia Areata 1

OMIM® : 57 Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body (Gilhar and Kalish, 2006). (104000) (Updated 20-May-2021)

MalaCards based summary : Alopecia Areata 1, also known as aa1, is related to alopecia universalis congenita and breast adenocarcinoma. An important gene associated with Alopecia Areata 1 is AA1 (Alopecia Areata 1). Affiliated tissues include breast and skin, and related phenotypes are autoimmunity and nail pits

Related Diseases for Alopecia Areata 1

Diseases in the Alopecia Areata family:

Alopecia Areata 1 Alopecia Areata 2

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

# Related Disease Score Top Affiliating Genes
1 alopecia universalis congenita 11.0
2 breast adenocarcinoma 10.1
3 alopecia areata 10.0
4 alopecia 10.0

Symptoms & Phenotypes for Alopecia Areata 1

Human phenotypes related to Alopecia Areata 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 autoimmunity 31 HP:0002960
2 nail pits 31 HP:0001803
3 alopecia universalis 31 HP:0002289
4 alopecia totalis 31 HP:0007418
5 patchy alopecia 31 HP:0002232
6 trachyonychia 31 HP:0030804

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Nails:
nail pitting
trachyonychia (rough surfaced nails)

Skin Nails Hair Hair:
patchy round or oval hair loss (alopecia areata)
alopecia totalis (entire loss of scalp hair)
alopecia universalis (entire loss of all hair on body)
peribulbar lymphocytic infiltrate (on scalp biopsy)

Clinical features from OMIM®:

104000 (Updated 20-May-2021)

Drugs & Therapeutics for Alopecia Areata 1

Search Clinical Trials , NIH Clinical Center for Alopecia Areata 1

Genetic Tests for Alopecia Areata 1

Anatomical Context for Alopecia Areata 1

MalaCards organs/tissues related to Alopecia Areata 1:

40
Breast, Skin

Publications for Alopecia Areata 1

Articles related to Alopecia Areata 1:

(show all 30)
# Title Authors PMID Year
1
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. 57
20596022 2010
2
Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. 57
17236136 2007
3
Alopecia areata: a tissue specific autoimmune disease of the hair follicle. 57
16338213 2006
4
Adult-onset Alopecia areata is a complex polygenic trait in the C3H/HeJ mouse model. 57
15245428 2004
5
Compound heterozygous mutations in the hairless gene in atrichia with papular lesions. 57
12880440 2003
6
Structure and polymorphism of the human gene for the interferon-induced p78 protein (MX1): evidence of association with alopecia areata in the Down syndrome region. 57
10942113 2000
7
Alopecia areata and cytomegalovirus infection in twins: genes versus environment? 57
9520023 1998
8
Tumor necrosis factor alpha (TNF-alpha) gene polymorphism in alopecia areata. 57
7557966 1995
9
[Sudden greying or whitening of the scalp hair]. 57
7843038 1995
10
A polymorphic variation in a putative regulation box of the TNFA promoter region. 57
7903959 1994
11
The genetic risk for alopecia areata in first degree relatives of severely affected patients. An estimate. 57
1361288 1992
12
Single base polymorphism in the human tumour necrosis factor alpha (TNF alpha) gene detectable by NcoI restriction of PCR product. 57
1363876 1992
13
Rapid whitening of the hair first reported in the Talmud. Possible mechanisms of this intriguing phenomenon. 57
1503208 1992
14
Prevalence of alopecia areata in the First National Health and Nutrition Examination Survey. 57
1575541 1992
15
Familial alopecia areata: no linkage with HLA. 57
2247886 1990
16
Km1 allotype association with one subgroup of alopecia areata. 57
2916584 1989
17
Familial alopecia areata--genetic susceptibility or coincidence? 57
2408426 1985
18
Familial alopecia areata. HLA antigens and autoantibody formation in an American family. 57
6231002 1984
19
Synchronous alopecia areata in two siblings: a possible viral aetiology. 57
87773 1979
20
Alopecia areata and vitiligo associated with Down's syndrome. 57
143244 1977
21
The clinical aspects of alopecia areata, totalis, and universalis. 57
14418648 1959
22
Naked Hair Shafts as a Marker of Cicatricial Alopecia. 61
29293128 2018
23
Hidradenitis suppurativa (HS): An unrecognized paradoxical effect of biologic agents (BA) used in chronic inflammatory diseases. 61
26965410 2016
24
In vivo reflectance confocal microscopy: usefulness for diagnosing hair diseases. 61
21886715 2008
25
Age dependence of diphenylcyclopropenone sensitization in patients with alopecia areata. 61
15274737 2004
26
Prevalence and clinical features of skin diseases in chronic HCV infection. A prospective study in 96 patients. 61
12434117 2002
27
A clinical study of vitiligo. 61
17656888 2002
28
[Thyroiditis in children. Personal observations]. 61
11228596 2000
29
Postoperative pressure-induced alopecia: report of a case and discussion of the role of apoptosis in non-scarring alopecia. 61
10487293 1999
30
[Alopecia areata. 1: Clinical aspects, etiology, pathogenesis]. 61
10231696 1999

Variations for Alopecia Areata 1

Expression for Alopecia Areata 1

Search GEO for disease gene expression data for Alopecia Areata 1.

Pathways for Alopecia Areata 1

GO Terms for Alopecia Areata 1

Sources for Alopecia Areata 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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