AU
MCID: ALP001
MIFTS: 67

Alopecia Universalis (AU) malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Alopecia Universalis

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NIH Rare Diseases:42 Alopecia universalis (au) is a condition characterized by complete loss of hair on the scalp and body. it is a severe form of alopecia areata, which refers to hair loss of unknown cause characterized by round patches of complete baldness.  alopecia universalis is thought to be an autoimmune condition that occurs in some genetically-predisposed people. hair loss occurs when a person's immune system mistakenly attacks the hair follicles. there are currently no treatments known to be effective for alopecia universalis, but sometimes hair regrowth occurs on it's own, even after many years. last updated: 8/26/2014

MalaCards based summary: Alopecia Universalis, also known as alopecia universalis congenita, is related to alopecia and alopecia areata, and has symptoms including abnormality of the eyelashes, alopecia and aplasia/hypoplasia of the eyebrow. An important gene associated with Alopecia Universalis is HR (hair growth associated), and among its related pathways are Corticotropin-releasing hormone and Metabolism of steroid hormones and vitamin D. The compounds 3beta-hydroxy-delta5-steroid and cortrosyn have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and pituitary, and related mouse phenotypes are tumorigenesis and renal/urinary system.

OMIM:46 Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime... (104000) more...

Wikipedia:64 Alopecia universalis or alopecia areata universalis is a medical condition involving rapid loss of all... more...

Descriptions from OMIM:46 203655,610753

Aliases & Classifications for Alopecia Universalis

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Sources:
9Disease Ontology, 10diseasecard, 42NIH Rare Diseases, 21GeneTests, 23GTR, 46OMIM, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet, 26ICD10
See all sources

Alopecia Universalis, Aliases & Descriptions:

Name: Alopecia Universalis 9 10 42 21 23 46 48 61
Alopecia Universalis Congenita 9 23 61
 
Alopecia Areata Universalis 42 61
Au 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
alopecia universalis:
Prevalence: 1-5/10000


External Ids:

Disease Ontology9 DOID:0050634
MESH via Orphanet35 C537055
ICD10 via Orphanet27 L63.1
UMLS via Orphanet62 C0263505
ICD1026 L63.1

Related Diseases for Alopecia Universalis

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

(show top 50)    (show all 207)
idRelated DiseaseScoreTop Affiliating Genes
1alopecia32.3AIRE, HR
2alopecia areata31.3AIRE, IFNG
3thyroiditis31.2POMC
4vitiligo31.1POMC, AIRE
5hepatitis c30.5IFNG, TNF
6type 1 diabetes mellitus30.5INS, IFNG
7candidiasis30.5AIRE, IFNG
8hypothyroidism30.4AIRE, INS, POMC
9hypogonadism30.4INS, POMC
10autoimmune thyroiditis30.2AIRE, CYP21A2, IFNG
11diabetes mellitus30.2POMC, TNF, INS, AIRE
12graves' disease30.2IFNG, CYP21A2, AIRE
13schimke immunoosseous dysplasia30.2CYP21A2, AIRE
14colitis30.2IFNG, TNF
15multiple sclerosis30.1TNF, POMC, IFNG
16arthritis30.0IFNG, POMC, TNF
17tuberculosis30.0TNF, POMC, IFNG
18polycystic ovary syndrome30.0CYP21A2, INS
19hepatitis10.5
20antley-bixler syndrome10.5CYP21A2
21empty sella syndrome10.4POMC
22melancholia10.4POMC
23hypoaldosteronism10.4POMC
24pituitary apoplexy10.4POMC
25alopecia totalis10.4
26alopecia universalis onychodystrophy vitiligo10.4
27endogenous depression10.4POMC
28skin disease10.4POMC
29neurofibromatosis type 610.4
30psoriasis10.4
31satoyoshi syndrome10.4
32leishmaniasis10.4IFNG
33neurofibromatosis10.4
34watson syndrome10.4
35acute lymphoblastic leukemia10.3
36leukemia10.3
37pernicious anemia10.3
38atopic dermatitis10.3
39dermatitis10.3
40lymphoblastic leukemia10.3
41cafe au lait spots, multiple10.3
42crohn's disease10.3
43lichen planus10.3
44down syndrome10.3
45total hypotrichosis, mari type10.3
46twenty-nail dystrophy10.3
47hepatitis c virus10.3
48autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.3AIRE, CYP21A2
49acute adrenal insufficiency10.2CYP21A2, POMC
50conn's syndrome10.2CYP21A2, POMC

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



Diseases related to alopecia universalis

Symptoms for Alopecia Universalis

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Symptoms by clinical synopsis from OMIM:

104000

Clinical features from OMIM:

203655,104000,610753

Symptoms:

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

HPO human phenotypes related to Alopecia Universalis:

(show all 11)
id Description Frequency HPO Source Accession
1 abnormality of the eyelashes hallmark (90%) HP:0000499
2 alopecia hallmark (90%) HP:0001596
3 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
4 multifactorial inheritance HP:0001426
5 nail pits HP:0001803
6 alopecia areata HP:0002229
7 autoimmunity HP:0002960
8 alopecia totalis HP:0007418
9 autosomal recessive inheritance HP:0000007
10 abnormality of metabolism/homeostasis HP:0001939
11 alopecia universalis HP:0002289

Drugs & Therapeutics for Alopecia Universalis

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Drug clinical trials:

Search ClinicalTrials for Alopecia Universalis

Search NIH Clinical Center for Alopecia Universalis

Genetic Tests for Alopecia Universalis

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Genetic tests related to Alopecia Universalis:

id Genetic test Affiliating Genes
1 Alopecia Universalis21 23 HR
2 Alopecia Universalis Congenita23

Anatomical Context for Alopecia Universalis

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MalaCards organs/tissues related to Alopecia Universalis:

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

Animal Models for Alopecia Universalis or affiliated genes

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MGI Mouse Phenotypes related to Alopecia Universalis:

36 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3AIRE, TNF, POMC, IFNG, HR
2MP:00053678.1HR, IFNG, POMC, INS
3MP:00053818.0AIRE, INS, TNF, IFNG, HR
4MP:00053917.9AIRE, INS, TNF, IFNG, HR
5MP:00030127.8AIRE, INS, TNF, POMC, IFNG
6MP:00107717.7INS, TNF, POMC, IFNG, HR
7MP:00053897.6AIRE, INS, TNF, IFNG, HR
8MP:00053707.5HR, IFNG, POMC, TNF, INS, AIRE
9MP:00053797.5AIRE, INS, TNF, POMC, IFNG, HR
10MP:00053977.5AIRE, INS, TNF, POMC, IFNG, HR
11MP:00053867.5AIRE, INS, TNF, POMC, IFNG, HR
12MP:00053877.4AIRE, INS, TNF, POMC, IFNG, HR
13MP:00053847.4AIRE, INS, TNF, POMC, IFNG, HR
14MP:00036317.4AIRE, INS, TNF, POMC, IFNG, HR
15MP:00053787.3AIRE, INS, TNF, POMC, IFNG, HR
16MP:00053767.2AIRE, INS, TNF, POMC, IFNG, HR
17MP:00107686.9AIRE, INS, TNF, POMC, IFNG, HR

Publications for Alopecia Universalis

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Articles related to Alopecia Universalis:

(show top 50)    (show all 119)
idTitleAuthorsYear
1
Alopecia universalis, renal stones, and hyperuricemia: a familial or an unfamiliar association. (24791244)
2014
2
Alopecia universalis during treatment with leflunomide and adalimumab - case report. (24770511)
2014
3
Killing two birds with one stone: oral tofacitinib reverses alopecia universalis in a patient with plaque psoriasis. (24940651)
2014
4
Diphenylcyclopropenone-induced vitiligo in a patient with alopecia universalis. (24019775)
2013
5
Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings. (23254735)
2013
6
Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis. (23326468)
2013
7
Satoyoshi syndrome: a cause of alopecia universalis in association with neurologic and bony abnormalities. (22612551)
2013
8
Irreversible alopecia universalis during treatment with pegylated interferon-ribavirin for chronic hepatitis C virus infection: Case report and published work review. (23181541)
2012
9
A mouse model of clonal CD8+ T lymphocyte-mediated alopecia areata progressing to alopecia universalis. (22116824)
2012
10
Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing. (21272494)
2011
11
Renbok phenomenon and contact sensitization in a patient with alopecia universalis. (20404233)
2010
12
Alopecia universalis with twenty-nail dystrophy (trachyonychia). (18627760)
2008
13
Alopecia universalis associated with impaired interleukin-4 production and low serum IgE level. (17637364)
2007
14
Alopecia universalis treated with bone morphogenetic protein? (16403121)
2006
15
Alopecia universalis in Down syndrome: response to therapy. (17179625)
2006
16
Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis. (12271294)
2002
17
Severe dermographism after topical therapy with diphenylcyclopropenone for alopecia universalis. (10750852)
2000
18
The genetic basis of alopecia areata: HLA associations with patchy alopecia areata versus alopecia totalis and alopecia universalis. (10674369)
1999
19
Of hairless mice and men: the genetic basis of congenital alopecia universalis/congenital atrichia. (10575161)
1999
20
Alopecia universalis associated with a mutation in the human hairless gene. (9445480)
1998
21
Alopecia universalis with remission during pregnancy and prednisolone therapy. (9001169)
1997
22
Long-term results of topical immunotherapy in children with alopecia totalis or alopecia universalis. (8708020)
1996
23
Cytokines in alopecia areata: contrasting cytokine profiles in localized form and extensive form (alopecia universalis). (8982401)
1996
24
Alopecia universalis and cyclosporin A. (8915173)
1996
25
Alopecia universalis in liver transplant patients treated with cyclosporin. (7577610)
1995
26
HLA class II alleles in long-standing alopecia totalis/alopecia universalis and long-standing patchy alopecia areata differentiate these two clinical groups. (7738393)
1995
27
Rapid hair regrowth in refractory alopecia universalis associated with autoimmune disease following liver transplantation and tacrolimus (FK506) therapy. (7539169)
1995
28
A case of alopecia universalis without the involvement of scalp hairs. (7740842)
1995
29
E-selectin and interleukin-2 receptor alpha-chain expression in alopecia universalis. (7511865)
1994
30
Alopecia universalis as a single abnormality in an inbred Pakistani kindred. (8357006)
1993
31
Alopecia universalis in a patient seropositive for the human immunodeficiency virus. (8101531)
1993
32
Down syndrome, alopecia universalis, and trachyonychia. (8346118)
1993
33
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
34
Alopecia universalis treated with oral cyclosporine A and prednisolone: immunologic studies. (1500249)
1992
35
Simultaneous occurrence of SIADH, secondary hypogonadism and alopecia universalis in a woman with IDDM. (1666359)
1991
36
Application of psychoimmunotherapy in patients with alopecia universalis. (1801046)
1991
37
Effective therapy with low dose of oral cyclosporine A and prednisolone for alopecia universalis. (2241589)
1990
38
Angiogenic activity is defective in monocytes from patients with alopecia universalis. (1696299)
1990
39
Alopecia universalis in a patient with Marfan's syndrome. (2272800)
1990
40
Congenital alopecia universalis. (2632563)
1989
41
Alopecia universalis as a feature of polyglandular autoimmunity type I. (3176494)
1988
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
Steroid therapy in alopecia universalis. A case report and review of the literature. (14025161)
1963
47
Long-term triamcinolone therapy of alopecia universalis. Case report. (14445785)
1959
48
The treatment of alopecia universalis with methyl prednisolone (medrol); associated with vitiligo involving arms, forearms, neck, and thigh. (13648966)
1959
49
Alopecia universalis congenita and hypoplasia renum in a newborn. (20254660)
1947
50
Two Cases of Alopecia Universalis. (19975828)
1912

Variations for Alopecia Universalis

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UniProtKB/Swiss-Prot genetic disease variations for Alopecia Universalis:

63
id Symbol AA change Variation ID SNP ID
1HRp.Thr1022AlaVAR_005266rs7014851
2HRp.Val1136AspVAR_005267
3HRp.Asp1012AsnVAR_016222

Clinvar genetic disease variations for Alopecia Universalis:

7
id Gene Name Type Significance SNP ID Assembly Location
1HRNM_005144.4(HR): c.3064A> G (p.Thr1022Ala)single nucleotide variantPathogenicrs7014851GRCh37Chr 8, 21976710: 21976710
2HRNM_005144.4(HR): c.3407T> A (p.Val1136Asp)single nucleotide variantPathogenicrs121434448GRCh37Chr 8, 21973913: 21973913
3HRHR, IVS12, G-A, +1single nucleotide variantPathogenic
4HRNM_005144.4(HR): c.3034G> A (p.Asp1012Asn)single nucleotide variantPathogenicrs121434451GRCh37Chr 8, 21976740: 21976740

Expression for genes affiliated with Alopecia Universalis

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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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Pathways related to Alopecia Universalis according to GeneCards/GeneDecks:

(show all 30)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5CYP21A2, POMC
2
Show member pathways
9.5POMC, CYP21A2
3
Show member pathways
9.5POMC, CYP21A2
49.4POMC, TNF
59.3POMC, IFNG
6
Show member pathways
Calcium signaling in the CD4+ TCR pathway37
9.3TNF, IFNG
7
Show member pathways
IL27-mediated signaling events37
9.3TNF, IFNG
8
Show member pathways
Transcription NF kB signaling pathway59
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response59
9.3TNF, IFNG
99.3TNF, IFNG
109.3TNF, IFNG
11
Show member pathways
9.3TNF, IFNG
129.3TNF, IFNG
139.3IFNG, TNF
14
Show member pathways
9.3IFNG, TNF
159.3IFNG, TNF
169.3IFNG, TNF
179.3IFNG, TNF
189.3IFNG, TNF
19
Show member pathways
Ras signaling in the CD4+ TCR pathway37
9.3IFNG, TNF
20
Show member pathways
9.3IFNG, TNF
21
Show member pathways
Immune response MIF in innate immunity response59
9.3IFNG, TNF
229.3IFNG, TNF
23
Show member pathways
9.1POMC, INS
24
Show member pathways
9.1TNF, INS
259.0IFNG, INS
269.0INS, IFNG
27
Show member pathways
8.5INS, TNF, IFNG
28
Show member pathways
thioredoxin pathway37
8.5IFNG, TNF, INS
29
Show member pathways
8.5IFNG, TNF, INS
30
Show member pathways
8.5IFNG, TNF, INS

Compounds for genes affiliated with Alopecia Universalis

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Compounds related to Alopecia Universalis according to GeneCards/GeneDecks:

(show top 50)    (show all 87)
idCompoundScoreTop Affiliating Genes
13beta-hydroxy-delta5-steroid449.9CYP21A2, POMC
2cortrosyn449.9CYP21A2, POMC
321-deoxycortisol44 2510.9POMC, CYP21A2
4nafarelin44 60 29 1212.9CYP21A2, POMC
5cortisol29 2510.9CYP21A2, POMC
6acth 1-24449.9CYP21A2, POMC
7fludrocortisone44 29 1211.9CYP21A2, POMC
817-hydroxypregnenolone449.9POMC, CYP21A2
911 deoxycortisol449.9POMC, CYP21A2
10doca449.9POMC, CYP21A2
11aminoglutethimide44 1210.9POMC, CYP21A2
12metyrapone44 60 1211.8POMC, CYP21A2
13interferon gamma449.8TNF, IFNG
14vesnarinone449.7TNF, IFNG
15taurine chloramine449.7TNF, IFNG
16gold sodium thiomalate449.7IFNG, TNF
17natalizumab44 1210.7TNF, IFNG
1817-hydroxyprogesterone44 2510.6POMC, CYP21A2
19il-12449.6TNF, IFNG
20adalimumab44 50 1211.6IFNG, TNF
21staurosporin449.6TNF, IFNG
22indoleamine449.6TNF, IFNG
23spironolactone44 60 29 50 1213.6CYP21A2, POMC
24clomiphene citrate449.5INS, CYP21A2
25imiquimod44 60 29 1212.5TNF, IFNG
26nash449.5TNF, INS
27polymyxin b449.3TNF, IFNG
28gm-csf44 2910.3IFNG, TNF
29budesonide44 50 1211.3IFNG, POMC, TNF
30fluticasone propionate44 50 60 1212.3TNF, POMC, IFNG
31okt3449.2IFNG, TNF
32cortisone44 2510.1POMC, INS, CYP21A2
33sb 20358044 6010.1IFNG, TNF, AIRE
34dehydroepiandrosterone sulfate449.1POMC, INS, CYP21A2
35dhea449.1CYP21A2, INS, POMC
36androstenedione44 2510.1POMC, INS, CYP21A2
37thyroxine44 2510.1POMC, INS, CYP21A2
38acth449.0POMC, INS, CYP21A2
39triptolide449.0IFNG, TNF
40indomethacin44 29 60 1212.0IFNG, POMC, TNF
41gnrh449.0POMC, INS, CYP21A2
42epinephrine44 25 1211.0POMC, INS, CYP21A2
43tacrolimus44 50 1210.9INS, TNF, IFNG
44prednisolone44 29 1210.8CYP21A2, TNF, POMC, IFNG
45norepinephrine44 25 1210.8POMC, INS, CYP21A2
46cycloheximide448.8IFNG, POMC, TNF, CYP21A2
47arginine448.4CYP21A2, INS, POMC, IFNG
48serine448.1AIRE, CYP21A2, INS, TNF, POMC
49hydrocortisone44 3 60 1211.0IFNG, POMC, TNF, INS, CYP21A2
50dexamethasone44 50 29 1211.0CYP21A2, INS, TNF, POMC, IFNG

GO Terms for genes affiliated with Alopecia Universalis

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Cellular components related to Alopecia Universalis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:0347749.0POMC, INS
2extracellular regionGO:0055768.0IFNG, POMC, TNF, INS
3extracellular spaceGO:0056157.7INS, TNF, POMC, IFNG

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vitamin D biosynthetic processGO:0605579.6IFNG, TNF
2positive regulation of calcidiol 1-monooxygenase activityGO:0605599.6IFNG, TNF
3positive regulation of chemokine biosynthetic processGO:0450809.6IFNG, TNF
4positive regulation of membrane protein ectodomain proteolysisGO:0510449.6IFNG, TNF
5negative regulation of growth of symbiont in hostGO:0441309.5TNF, IFNG
6positive regulation of osteoclast differentiationGO:0456729.5TNF, IFNG
7protein import into nucleus, translocationGO:0000609.4IFNG, TNF
8negative regulation of lipid catabolic processGO:0509959.4TNF, INS
9extrinsic apoptotic signaling pathwayGO:0971919.2IFNG, TNF
10humoral immune responseGO:0069599.2AIRE, TNF, IFNG
11positive regulation of cytokine secretionGO:0507159.2INS, TNF
12positive regulation of mitosisGO:0458409.1TNF, INS
13positive regulation of protein kinase B signalingGO:0518979.1TNF, INS
14MAPK cascadeGO:0001658.8TNF, INS
15positive regulation of nitric oxide biosynthetic processGO:0454298.8IFNG, TNF, INS
16regulation of insulin secretionGO:0507968.8INS, TNF, IFNG
17positive regulation of transcription from RNA polymerase II promoterGO:0459448.6IFNG, POMC, TNF, AIRE

Molecular functions related to Alopecia Universalis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.1POMC, INS
2protease bindingGO:0020208.8TNF, INS
3identical protein bindingGO:0428028.6TNF, INS, AIRE

Products for genes affiliated with Alopecia Universalis

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Sources for Alopecia Universalis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet