AA2
MCID: ALP040
MIFTS: 19

Alopecia Areata 2 (AA2)

Categories: Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Alopecia Areata 2

MalaCards integrated aliases for Alopecia Areata 2:

Name: Alopecia Areata 2 58 13 74
Aa2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
incomplete penetrance
autosomal dominant and recessive models are under consideration
onset of disease can be sudden and the progression of the disorder unpredictable



Classifications:



External Ids:

OMIM 58 610753
MedGen 43 C1853104
UMLS 74 C1853104

Summaries for Alopecia Areata 2

MalaCards based summary : Alopecia Areata 2, also known as aa2, is related to alopecia areata and perrault syndrome 1. An important gene associated with Alopecia Areata 2 is AA2 (Alopecia Areata 2). Affiliated tissues include brain, and related phenotypes are alopecia universalis and alopecia totalis

Description from OMIM: 610753

Related Diseases for Alopecia Areata 2

Diseases in the Alopecia Areata family:

Alopecia Areata 1 Alopecia Areata 2

Diseases related to Alopecia Areata 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alopecia areata 11.2
2 perrault syndrome 1 11.1
3 alopecia areata 1 10.1
4 grfoma 10.1

Symptoms & Phenotypes for Alopecia Areata 2

Human phenotypes related to Alopecia Areata 2:

33
# Description HPO Frequency HPO Source Accession
1 alopecia universalis 33 HP:0002289
2 alopecia totalis 33 HP:0007418
3 alopecia of scalp 33 HP:0002293
4 patchy alopecia 33 HP:0002232

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Hair:
alopecia universalis
well-circumscribed patches of hair loss on scalp
selective loss of pigmented hair

Clinical features from OMIM:

610753

Drugs & Therapeutics for Alopecia Areata 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Baricitinib (LY3009104) in Adults With Severe or Very Severe Alopecia Areata Not yet recruiting NCT03899259 Phase 3 Baricitinib;Placebo

Search NIH Clinical Center for Alopecia Areata 2

Genetic Tests for Alopecia Areata 2

Anatomical Context for Alopecia Areata 2

MalaCards organs/tissues related to Alopecia Areata 2:

42
Brain

Publications for Alopecia Areata 2

Articles related to Alopecia Areata 2:

# Title Authors Year
1
Identification of Eps15 as antigen recognized by the monoclonal antibodies aa2 and ab52 of the Wuerzburg Hybridoma Library against Drosophila brain. ( 22206011 )
2011
2
A possible role of AA2 excitatory amino acid receptors in the expression of stimulant drug effects. ( 1975105 )
1990
3
Molecular analysis of two mouse dilute locus deletion mutations: spontaneous dilute lethal20J and radiation-induced dilute prenatal lethal Aa2 alleles. ( 2300051 )
1990
4
Presence of the Fc-fragment allotypic determinant, A15, on IgG from an allotype-suppressed Aa2 homozygous rabbit lacking the Aa2 determinants of the Fd fragment. ( 4110802 )
1972
5
Direct demonstration and quantitatin of Aal, Aa2 and Aa3 allotypic specificities on Fd-fragments of rabbit immunoglobulin G. ( 4966842 )
1968
6
Rabbit lymphoid cells differentiated with respect to alpha-, gamma-, and mu- heavy polypeptide chains and to allotypic markers Aa1 and Aa2. ( 4160817 )
1966

Variations for Alopecia Areata 2

Expression for Alopecia Areata 2

Search GEO for disease gene expression data for Alopecia Areata 2.

Pathways for Alopecia Areata 2

GO Terms for Alopecia Areata 2

Sources for Alopecia Areata 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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