AU
MCID: ALP001
MIFTS: 67

Alopecia Universalis (AU) malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Alopecia Universalis

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43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 Metabolism of steroid hormones and vitamin D and Cytochrome P450 - arranged by substrate type. The compounds cortrosyn and 3beta-hydroxy-delta5-steroid 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:65 Alopecia universalis or alopecia areata universalis is a medical condition involving rapid loss of all... more...

Description from OMIM:47 203655,104000,610753

Aliases & Classifications for Alopecia Universalis

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Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

49
alopecia universalis:
Prevalence: 1-5/10000


Aliases & Descriptions:

alopecia universalis 8 9 43 20 22 47 49 62
alopecia universalis congenita 8 43 22 62
loss of all hair on the body 43
alopecia areata universalis 43
generalized atrichia 43
au 43


External Ids:

Disease Ontology8 DOID:0050634
MESH via Orphanet36 C537055
ICD10 via Orphanet26 L63.1
SNOMED-CT via Orphanet59 86166000
UMLS via Orphanet63 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 203)
idRelated DiseaseScoreTop Affiliating Genes
1alopecia31.8HR, AIRE
2alopecia areata31.0AIRE, IFNG
3vitiligo30.9AIRE, POMC
4hepatitis c30.7TNF, IFNG
5thyroiditis30.7POMC
6diabetes mellitus30.6INS, POMC, TNF, AIRE
7hypothyroidism30.5INS, AIRE, POMC
8type 1 diabetes mellitus30.5IFNG, INS
9candidiasis30.3IFNG, AIRE
10autoimmune thyroiditis30.2IFNG, AIRE, CYP21A2
11graves' disease30.2AIRE, IFNG, CYP21A2
12hypogonadism30.2INS, POMC
13multiple sclerosis30.1POMC, IFNG, TNF
14arthritis30.1POMC, TNF, IFNG
15encephalomyelitis30.0IFNG, TNF
16tuberculosis30.0POMC, TNF, IFNG
17schimke immunoosseous dysplasia29.9CYP21A2, AIRE
18polycystic ovary syndrome29.8INS, CYP21A2
19hepatitis10.5
20alopecia universalis onychodystrophy vitiligo10.4
21alopecia totalis10.4
22satoyoshi syndrome10.4
23cafe au lait spots, multiple10.3
24atopic dermatitis10.3
25pernicious anemia10.3
26dermatitis10.3
27leukemia10.3
28lymphoblastic leukemia10.3
29neurofibromatosis10.3
30crohn's disease10.3
31lichen planus10.3
32down syndrome10.3
33psoriasis10.3
34total hypotrichosis, mari type10.3
35twenty-nail dystrophy10.3
36hepatitis c virus10.3
37mccune albright syndrome10.2
38watson syndrome10.2
39neurofibromatosis type 610.2
40ichthyosis vulgaris10.1
41pityriasis rubra pilaris10.1
42bullous pemphigoid10.1
43ulcerative colitis10.1
44porphyria cutanea tarda10.1
45systemic lupus erythematosus10.1
46common variable immunodeficiency10.1
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

Symptoms for Alopecia Universalis

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

104000

Clinical features from OMIM:

203655,104000,610753

Symptoms:

49
  • 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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42NIH Clinical Center, 6ClinicalTrials
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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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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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33MalaCards
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MalaCards organs/tissues related to Alopecia Universalis:

33
Skin, Pituitary, Thyroid, Liver, Bone, Bone marrow, Monocytes, T cells

Animal Models for Alopecia Universalis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Alopecia Universalis:

37 (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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Sources:
52PubMed
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Articles related to Alopecia Universalis:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Diphenylcyclopropenone-induced vitiligo in a patient with alopecia universalis. (24019775)
2013
2
Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings. (23254735)
2013
3
Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis. (23326468)
2013
4
Satoyoshi syndrome: a cause of alopecia universalis in association with neurologic and bony abnormalities. (22612551)
2013
5
Irreversible alopecia universalis during treatment with pegylated interferon-ribavirin for chronic hepatitis C virus infection: Case report and published work review. (23181541)
2012
6
A mouse model of clonal CD8+ T lymphocyte-mediated alopecia areata progressing to alopecia universalis. (22116824)
2012
7
Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing. (21272494)
2011
8
Renbok phenomenon and contact sensitization in a patient with alopecia universalis. (20404233)
2010
9
Alopecia universalis with twenty-nail dystrophy (trachyonychia). (18627760)
2008
10
Alopecia universalis associated with impaired interleukin-4 production and low serum IgE level. (17637364)
2007
11
Alopecia universalis treated with bone morphogenetic protein? (16403121)
2006
12
Alopecia universalis in Down syndrome: response to therapy. (17179625)
2006
13
Reversible alopecia universalis during treatment with PEG-interferon and ribavirin for chronic hepatitis C. (15920908)
2005
14
Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis. (15337477)
2004
15
Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis. (12271294)
2002
16
Alopecia universalis associated with Zumbusch-type generalized pustular psoriasis. (12077534)
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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Alopecia Universalis:

64
id Symbol AA change Variation ID SNP ID
1HRp.Thr1022AlaVAR_005266rs7014851
2HRp.Val1136AspVAR_005267
3HRp.Asp1012AsnVAR_016222

Clinvar genetic disease variations for Alopecia Universalis:

1
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 51PharmGKB, 60Thomson Reuters, 30KEGG, 57SinoBiological, 53QIAGEN, 54R&D Systems
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Pathways related to Alopecia Universalis according to GeneCards/GeneDecks:

(show all 30)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5CYP21A2, POMC
2
Show member pathways
9.5POMC, CYP21A2
39.5POMC, CYP21A2
49.4TNF, POMC
59.3POMC, IFNG
6
Show member pathways
9.3TNF, IFNG
7
Show member pathways
Calcium signaling in the CD4+ TCR pathway38
9.3TNF, IFNG
8
Show member pathways
Ras signaling in the CD4+ TCR pathway38
9.3TNF, IFNG
99.3TNF, IFNG
10
Show member pathways
Immune response MIF in innate immunity response60
9.3TNF, IFNG
119.3TNF, IFNG
129.3TNF, IFNG
13
Show member pathways
Transcription NF kB signaling pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
9.3TNF, IFNG
149.3IFNG, TNF
159.3IFNG, TNF
16
Show member pathways
IL27-mediated signaling events38
9.3IFNG, TNF
179.3IFNG, TNF
189.3IFNG, TNF
19
Show member pathways
9.3IFNG, TNF
209.3IFNG, TNF
21
Show member pathways
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
thioredoxin pathway38
8.5INS, TNF, IFNG
28
Show member pathways
8.5IFNG, INS, TNF
29
Show member pathways
8.5INS, TNF, IFNG
30
Show member pathways
8.5IFNG, TNF, INS

Compounds for genes affiliated with Alopecia Universalis

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Sources:
45Novoseek, 24HMDB, 61Tocris Bioscience, 29IUPHAR, 11DrugBank, 51PharmGKB, 3BitterDB
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Compounds related to Alopecia Universalis according to GeneCards/GeneDecks:

(show top 50)    (show all 87)
idCompoundScoreTop Affiliating Genes
1cortrosyn459.9CYP21A2, POMC
23beta-hydroxy-delta5-steroid459.9CYP21A2, POMC
321-deoxycortisol45 2410.9CYP21A2, POMC
4nafarelin45 61 29 1112.9POMC, CYP21A2
5fludrocortisone45 29 1111.9CYP21A2, POMC
6acth 1-24459.9CYP21A2, POMC
7cortisol29 2410.9CYP21A2, POMC
817-hydroxypregnenolone459.9POMC, CYP21A2
9doca459.9POMC, CYP21A2
1011 deoxycortisol459.9POMC, CYP21A2
11aminoglutethimide45 1110.9CYP21A2, POMC
12metyrapone45 61 1111.8POMC, CYP21A2
13interferon gamma459.8IFNG, TNF
14taurine chloramine459.7TNF, IFNG
15vesnarinone459.7IFNG, TNF
16gold sodium thiomalate459.7TNF, IFNG
17natalizumab45 1110.7IFNG, TNF
1817-hydroxyprogesterone45 2410.6POMC, CYP21A2
19il-12459.6TNF, IFNG
20adalimumab45 51 1111.6TNF, IFNG
21indoleamine459.6TNF, IFNG
22staurosporin459.6TNF, IFNG
23clomiphene citrate459.5INS, CYP21A2
24imiquimod45 61 29 1112.5IFNG, TNF
25spironolactone45 61 29 51 1113.5CYP21A2, POMC
26nash459.5INS, TNF
27polymyxin b459.4IFNG, TNF
28triptolide459.3IFNG, TNF
29budesonide45 51 1111.3IFNG, TNF, POMC
30fluticasone propionate45 51 61 1112.3TNF, IFNG, POMC
31okt3459.2IFNG, TNF
32cortisone45 2410.1POMC, INS, CYP21A2
33sb 20358045 6110.1IFNG, TNF, AIRE
34dehydroepiandrosterone sulfate459.1POMC, INS, CYP21A2
35dhea459.1CYP21A2, INS, POMC
36androstenedione45 2410.1POMC, CYP21A2, INS
37thyroxine45 2410.1INS, CYP21A2, POMC
38acth459.0INS, CYP21A2, POMC
39indomethacin45 29 61 1112.0POMC, TNF, IFNG
40gm-csf45 2910.0TNF, IFNG
41gnrh459.0POMC, CYP21A2, INS
42epinephrine45 24 1111.0CYP21A2, INS, POMC
43tacrolimus45 51 1110.9IFNG, TNF, INS
44prednisolone45 29 1110.8IFNG, CYP21A2, POMC, TNF
45norepinephrine45 24 1110.8INS, POMC, CYP21A2
46cycloheximide458.8POMC, IFNG, CYP21A2, TNF
47arginine458.4IFNG, CYP21A2, INS, POMC
48serine458.1AIRE, CYP21A2, INS, TNF, POMC
49hydrocortisone45 3 61 1111.0IFNG, POMC, TNF, INS, CYP21A2
50dexamethasone45 51 29 1111.0INS, CYP21A2, TNF, IFNG, POMC

GO Terms for genes affiliated with Alopecia Universalis

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

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:0347749.0INS, POMC
2extracellular regionGO:0055768.0INS, TNF, POMC, IFNG
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:0605579.6TNF, IFNG
2positive regulation of calcidiol 1-monooxygenase activityGO:0605599.6IFNG, TNF
3positive regulation of chemokine biosynthetic processGO:0450809.6TNF, IFNG
4positive regulation of membrane protein ectodomain proteolysisGO:0510449.6TNF, IFNG
5negative regulation of growth of symbiont in hostGO:0441309.5IFNG, TNF
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:0518979.1INS, TNF
14MAPK cascadeGO:0001658.8INS, TNF
15positive regulation of nitric oxide biosynthetic processGO:0454298.8INS, IFNG, TNF
16regulation of insulin secretionGO:0507968.8TNF, INS, IFNG
17positive regulation of transcription from RNA polymerase II promoterGO:0459448.6AIRE, TNF, IFNG, POMC

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alopecia Universalis

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet