AU
MCID: ALP001
MIFTS: 66

Alopecia Universalis (AU) malady

Skin diseases category

Summaries for Alopecia Universalis

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Alopecia universalis is an uncommon form of alopecia areata. alopecia areata is hair loss of unknown cause, characterized by round patches of complete baldness. alopecia universalis, which presents itself as the loss of hair over the entire scalp and body, is an autoimmune disease, in which the immune system mistakenly attacks the hair follicles. while there is neither a cure for alopecia areata nor drugs approved for its treatment, some people find that medications approved for other purposes can help hair grow back, at least temporarily. since the hair follicles of individuals with alopecia universalis remain alive, hair regrowth may occur even without treatment and even after many years.  last updated: 5/8/2012

MalaCards: Alopecia Universalis, also known as alopecia universalis congenita, is related to alopecia and alopecia areata, and has symptoms including autosomal recessive inheritance, alopecia and decreased body hair/axillar/pubic hairlessness. An important gene associated with Alopecia Universalis is HR (hair growth associated), and among its related pathways are Leishmaniasis and Immune response MIF-mediated glucocorticoid regulation. The compounds 3beta-hydroxy-delta5-steroid and cortrosyn have been mentioned in the context of this disorder. Affiliated tissues include skin, pituitary and thyroid, and related mouse phenotypes are tumorigenesis and renal/urinary system.

Wikipedia:63 Alopecia universalis or alopecia areata universalis is a medical condition involving rapid loss of all... more...

Description from OMIM:46 203655,104000,610753

Aliases & Classifications for Alopecia Universalis

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
alopecia universalis:
Prevalence: 1-5/10000


Aliases & Descriptions:

alopecia universalis 8 9 42 20 22 46 48 60
alopecia universalis congenita 8 42 22 60
loss of all hair on the body 42
alopecia areata universalis 42
generalized atrichia 42
au 42


External Ids:

Disease Ontology8 DOID:0050634
MESH via Orphanet35 C537055
ICD10 via Orphanet26 L63.1
SNOMED-CT via Orphanet57 86166000
UMLS via Orphanet61 C0263505
ICD1025 L63.1

Related Diseases for Alopecia Universalis

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17GeneCards, 18GeneDecks
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Diseases related to Alopecia Universalis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 206)
idRelated DiseaseScoreTop Affiliating Genes
1alopecia31.6HR, AIRE
2alopecia areata30.9AIRE, IFNG
3vitiligo30.7AIRE, POMC
4hepatitis30.7AIRE
5hepatitis c30.7IFNG
6diabetes mellitus30.6TNF, AIRE, POMC, INS
7thyroiditis30.5POMC
8autoimmune thyroiditis30.4CYP21A2, AIRE, IFNG
9hypothyroidism30.4INS, POMC, AIRE
10down syndrome30.3AIRE
11ulcerative colitis30.1TNF
12candidiasis30.1AIRE, IFNG
13hypogonadism30.1INS, POMC
14graves' disease30.1IFNG, AIRE, CYP21A2
15rheumatoid arthritis30.1TNF, IFNG
16arthritis30.1POMC, TNF, IFNG
17schimke immunoosseous dysplasia29.7CYP21A2, AIRE
18cholera29.7POMC, INS
19polycystic ovary syndrome29.7CYP21A2, INS
20alopecia universalis onychodystrophy vitiligo10.4
21hepatitis a10.3
22cafe au lait spots, multiple10.3
23atopic dermatitis10.3
24type 1 diabetes mellitus10.3
25pernicious anemia10.3
26acute leukemia10.3
27dermatitis10.3
28leukemia10.3
29lymphoblastic leukemia10.3
30neurofibromatosis10.3
31watson syndrome10.3
32crohn's disease10.2
33lichen planus10.2
34psoriasis10.2
35total hypotrichosis, mari type10.2
36satoyoshi syndrome10.2
37mccune albright syndrome10.2
38legius syndrome10.1
39neurofibromatosis type 610.1
40bullous pemphigoid10.1
41ichthyosis vulgaris10.1
42porphyria cutanea tarda10.1
43systemic lupus erythematosus10.1
44common variable immunodeficiency10.1
45factor viii deficiency10.1
46pityriasis rubra pilaris10.1
47sclerosing cholangitis10.1
48amyloidosis10.1
49cataract10.1
50cholangitis10.1

Graphical network of the top 20 diseases related to Alopecia Universalis:



Diseases related to alopecia universalis

Clinical Features for Alopecia Universalis

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

203655,104000,610753

Clinical synopsis from OMIM:

104000

Symptoms:

48
  • autosomal recessive inheritance
  • alopecia
  • decreased body hair/axillar/pubic hairlessness
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • absent/decreased lashes
  • absent/decreased/thin eyebrows

Drugs & Therapeutics for Alopecia Universalis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Alopecia Universalis

Drug clinical trials:

Search ClinicalTrials for Alopecia Universalis

Search NIH Clinical Center for Alopecia Universalis

Search CenterWatch for Alopecia Universalis

Genetic Tests for Alopecia Universalis

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20GeneTests, 22GTR
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Genetic tests related to Alopecia Universalis:

id Genetic test Affiliating Genes
1 Alopecia Universalis20 22 HR
2 Alopecia Universalis Congenita22

Anatomical Context for Alopecia Universalis

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32MalaCards
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MalaCards organs/tissues related to Alopecia Universalis:

32
Skin, Pituitary, Thyroid, Liver, Bone, Bone marrow, Monocytes, T cells

Animal Models for Alopecia Universalis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Alopecia Universalis:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.5IFNG, TNF, AIRE, POMC, HR
2MP:00053677.9IFNG, FAIM2, POMC, INS, HR
3MP:00053817.8HR, INS, AIRE, TNF, IFNG
4MP:00030127.8IFNG, TNF, AIRE, POMC, INS
5MP:00053707.7HR, INS, POMC, AIRE, TNF, IFNG
6MP:00053797.7IFNG, TNF, AIRE, POMC, INS, HR
7MP:00107717.6IFNG, TNF, LIPH, POMC, INS, HR
8MP:00053917.6IFNG, TNF, AIRE, INS, HR
9MP:00053977.4IFNG, TNF, HLA-DOA, AIRE, POMC, INS
10MP:00053877.3IFNG, TNF, HLA-DOA, AIRE, POMC, INS
11MP:00053867.1IFNG, TNF, FAIM2, AIRE, POMC, INS
12MP:00036317.1IFNG, TNF, FAIM2, AIRE, POMC, INS
13MP:00053766.9HR, INS, POMC, AIRE, FAIM2, TNF

Publications for Alopecia Universalis

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Sources:
50PubMed
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Articles related to Alopecia Universalis:

(show top 50)    (show all 129)
idTitleAuthorsYear
1
Alopecia Universalis Associated with Vitiligo in an 18-year-old HIV-positive Patient: Highly Active Anti-retroviral Therapy as First Choice Therapy? (23824261)
2014
2
Diphenylcyclopropenone-induced vitiligo in a patient with alopecia universalis. (24019775)
2013
3
Irreversible alopecia universalis during treatment with pegylated interferon-ribavirin for chronic hepatitis C virus infection: Case report and published work review. (23181541)
2012
4
A mouse model of clonal CD8+ T lymphocyte-mediated alopecia areata progressing to alopecia universalis. (22116824)
2012
5
Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing. (21272494)
2011
6
Alopecia universalis following two sequential traffic accidents: possible association with increased Th1 and Th17 cells and decreased Th2 cells. (22259836)
2011
7
Remission of alopecia universalis following successful clinical islet transplantation. (21951462)
2011
8
Alopecia areata universalis during off-label treatment with Infliximab in a patient with BehAset disease. (20875336)
2010
9
Alopecia universalis, hypothyroidism and pituitary hyperplasia: polyglandular autoimmune syndrome III in a patient in remission from treated Hodgkin lymphoma. (22791495)
2010
10
Neuroimages. Hypertrichosis in alopecia universalis and complex regional pain syndrome. (20956794)
2010
11
Successful treatment of alopecia universalis with alefacept: a case report and review of the literature. (18543595)
2008
12
Alopecia areata universalis during treatment of rheumatoid arthritis with anti-TNF-alpha antibody (adalimumab). (18849606)
2008
13
Alopecia universalis associated with impaired interleukin-4 production and low serum IgE level. (17637364)
2007
14
Reversible alopecia universalis secondary to PEG-interferon alpha-2b and ribavirin combination therapy in a patient with chronic hepatitis C virus infection. (17700271)
2007
15
Alopecia universalis following interferon alfa-2b and ribavirin treatment for hepatitis C. (21960874)
2007
16
Case reports: alopecia universalis: hair growth following initiation of simvastatin and ezetimibe therapy. (17941369)
2007
17
Oral mega pulse methylprednisolone in alopecia universalis. (16680269)
2006
18
Reversible alopecia universalis during treatment with PEG-interferon and ribavirin for chronic hepatitis C. (15920908)
2005
19
Complete remission of alopecia universalis after allogeneic hematopoietic stem cell transplantation. (15073031)
2005
20
Clobetasol propionate 0.05% under occlusion in the treatment of alopecia totalis/universalis. (12833016)
2003
21
Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome. (12486505)
2003
22
Case study of alopecia universalis and web-based news groups. (12746592)
2003
23
Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis. (12542742)
2002
24
Alopecia universalis completely resolved following autologous bone marrow transplantation. (12164760)
2002
25
Alopecia universalis in a case of systemic lupus erythematosus. (12421036)
2002
26
Effect of IVIG on the hair regrowth in a common variable immune deficiency patient with alopecia universalis. (10403010)
1999
27
Alopecia universalis associated with a mutation in the human hairless gene. (9445480)
1998
28
Chronic inflammatory polyradiculoneuropathy associated with alopecia universalis. (9427234)
1998
29
Alopecia universalis in liver transplant patients treated with cyclosporin. (7577610)
1995
30
HLA class II alleles in long-standing alopecia totalis/alopecia universalis and long-standing patchy alopecia areata differentiate these two clinical groups. (7738393)
1995
31
Rapid hair regrowth in refractory alopecia universalis associated with autoimmune disease following liver transplantation and tacrolimus (FK506) therapy. (7539169)
1995
32
Twenty-nail dystrophy (trachyonychia) caused by lichen planus in a patient with alopecia universalis and ichthyosis vulgaris. (7593807)
1995
33
E-selectin and interleukin-2 receptor alpha-chain expression in alopecia universalis. (7511865)
1994
34
Alopecia universalis as a single abnormality in an inbred Pakistani kindred. (8357006)
1993
35
Down syndrome, alopecia universalis, and trachyonychia. (8346118)
1993
36
Failure of passive transfer of serum from patients with alopecia areata and alopecia universalis to inhibit hair growth in transplants of human scalp skin grafted on to nude mice. (1536782)
1992
37
Alopecia universalis treated with oral cyclosporine A and prednisolone: immunologic studies. (1500249)
1992
38
Application of psychoimmunotherapy in patients with alopecia universalis. (1801046)
1991
39
Porphyria cutanea tarda associated with autoimmune hypothyroidism, vitiligo and alopecia universalis. (1803247)
1991
40
Alopecia universalis in a homosexual man seropositive for the human immunodeficiency virus. (2398455)
1990
41
Congenital alopecia universalis. (2632563)
1989
42
Hair growth in scalp grafts from patients with alopecia areata and alopecia universalis grafted onto nude mice. (3800422)
1987
43
Alopecia universalis in identical twins. (6539757)
1984
44
Spontaneous cell-mediated cytotoxicity (SCMC) in patients with alopecia universalis. (6172934)
1981
45
T cell subpopulations and their functions in vitro. A study in patients with alopecia areata and alopecia universalis. (6974701)
1981
46
Alopecia universalis. A manifestation of occult amyloidosis and multiple myeloma. (7316563)
1981
47
ALOPECIA UNIVERSALIS, ONYCHODYSTROPHY, AND TOTAL VITILIGO. (14043609)
1963
48
Long-term triamcinolone therapy of alopecia universalis. Case report. (14445785)
1959
49
The treatment of alopecia universalis with methyl prednisolone (medrol); associated with vitiligo involving arms, forearms, neck, and thigh. (13648966)
1959
50
Alopecia universalis in cirrhosis. (13256811)
1955

Genetic Variations for Alopecia Universalis

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Alopecia Universalis:

62
id Symbol AA change Variation ID SNP ID
1HRp.Thr1022AlaVAR_005266rs7014851
2HRp.Val1136AspVAR_005267
3HRp.Asp1012AsnVAR_016222

Expression for genes affiliated with Alopecia Universalis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alopecia Universalis

Search GEO for disease gene expression data for Alopecia Universalis.

Pathways for genes affiliated with Alopecia Universalis

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Sources:
29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 52R&D Systems, 51QIAGEN
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Compounds for genes affiliated with Alopecia Universalis

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Sources:
44Novoseek, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 49PharmGKB, 2BitterDB
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Compounds related to Alopecia Universalis according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
13beta-hydroxy-delta5-steroid4410.1CYP21A2, POMC
2cortrosyn4410.1CYP21A2, POMC
321-deoxycortisol44 2411.0CYP21A2, POMC
4nafarelin44 59 28 1113.0CYP21A2, POMC
5acth 1-244410.0CYP21A2, POMC
6cortisol28 2411.0POMC, CYP21A2
7fludrocortisone44 28 1112.0POMC, CYP21A2
817-hydroxypregnenolone4410.0CYP21A2, POMC
911 deoxycortisol4410.0CYP21A2, POMC
10doca4410.0CYP21A2, POMC
11aminoglutethimide44 1110.9POMC, CYP21A2
12metyrapone59 44 1111.8CYP21A2, POMC
13acth449.8CYP21A2, POMC
14interferon gamma449.7TNF, IFNG
15taurine chloramine449.7IFNG, TNF
16vesnarinone449.7IFNG, TNF
1717-hydroxyprogesterone44 2410.6CYP21A2, POMC
18gold sodium thiomalate449.6TNF, IFNG
19natalizumab44 1110.6IFNG, TNF
20adalimumab44 49 1111.6IFNG, TNF
21clomiphene citrate449.5CYP21A2, INS
22il-12449.5IFNG, TNF
23staurosporin449.4IFNG, TNF
24indoleamine449.3IFNG, TNF
25nash449.3INS, TNF
26budesonide44 49 1111.3IFNG, TNF, POMC
27fluticasone propionate44 49 59 1112.3POMC, TNF, IFNG
28cortisone44 2410.2POMC, CYP21A2, INS
29imiquimod44 28 59 1112.2TNF, IFNG
30dehydroepiandrosterone sulfate449.2POMC, CYP21A2, INS
31dhea449.2INS, CYP21A2, POMC
32androstenedione44 2410.2POMC, CYP21A2, INS
33thyroxine44 2410.1INS, CYP21A2, POMC
34prednisolone44 28 1110.9IFNG, TNF, POMC, CYP21A2
35tacrolimus44 49 1110.7INS, TNF, IFNG
36gnrh448.5INS, CYP21A2, POMC
37hydrocortisone44 2 59 1111.1INS, CYP21A2, POMC, TNF, IFNG
38dexamethasone44 49 28 1111.1IFNG, TNF, POMC, CYP21A2, INS

GO Terms for genes affiliated with Alopecia Universalis

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16Gene Ontology
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Cellular components related to Alopecia Universalis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:0347749.2INS, POMC
2extracellular spaceGO:0056157.4INS, POMC, LIPH, TNF, IFNG

Biological processes related to Alopecia Universalis according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vitamin D biosynthetic processGO:0605579.6TNF, IFNG
2positive regulation of calcidiol 1-monooxygenase activityGO:0605599.6IFNG, TNF
3positive regulation of chemokine biosynthetic processGO:0450809.5TNF, IFNG
4positive regulation of membrane protein ectodomain proteolysisGO:0510449.5IFNG, TNF
5negative regulation of growth of symbiont in hostGO:0441309.4TNF, IFNG
6positive regulation of osteoclast differentiationGO:0456729.4TNF, IFNG
7protein import into nucleus, translocationGO:0000609.3IFNG, TNF
8humoral immune responseGO:0069599.3AIRE, TNF, IFNG
9negative regulation of lipid catabolic processGO:0509959.2INS, TNF
10extrinsic apoptotic signaling pathwayGO:0971919.0TNF, IFNG
11positive regulation of mitosisGO:0458409.0INS, TNF
12positive regulation of cytokine secretionGO:0507158.9INS, TNF
13positive regulation of nitric oxide biosynthetic processGO:0454298.8INS, TNF, IFNG
14regulation of insulin secretionGO:0507968.7INS, TNF, IFNG

Products for genes affiliated with Alopecia Universalis

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Sources for Alopecia Universalis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet