MCID: ALP001
MIFTS: 57

Alopecia Universalis malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Alopecia Universalis

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Alopecia Universalis, Aliases & Descriptions:

Name: Alopecia Universalis 45 9 10 41 20 47 22 60
Alopecia Universalis Congenita 9 22
 
Alopecia Areata Universalis 41
Au 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
alopecia universalis:
Prevalence: 1-5/10000 (Europe)


External Ids:

OMIM45 203655
Disease Ontology9 DOID:0050634
Orphanet47 701
MESH via Orphanet34 C537055
ICD10 via Orphanet26 L63.1
UMLS via Orphanet61 C0263505
ICD1025 L63.1

Summaries for Alopecia Universalis

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NIH Rare Diseases:41 Alopecia universalis (au) is a condition characterized by the complete loss of hair on the scalp and body. it is an advanced form of alopecia areata, a condition that causes round patches of hair loss. although the exact cause of au is unknown, it is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of au. there is currently no cure for au, but sometimes hair regrowth occurs on it's own, even after many years. last updated: 11/23/2014

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 cortrosyn and 3beta-hydroxy-delta5-steroid 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.

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

Description from OMIM:45 203655

Related Diseases for Alopecia Universalis

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

(show top 50)    (show all 233)
idRelated DiseaseScoreTop Affiliating Genes
1alopecia32.3HR, AIRE
2alopecia areata31.3AIRE, IFNG
3thyroiditis31.2POMC
4hepatitis c30.7TNF, IFNG
5hypothyroidism30.4INS, AIRE, POMC
6hypogonadism30.4INS, POMC
7graves' disease30.2AIRE, IFNG, CYP21A2
8colitis30.1TNF, IFNG
9arthritis30.0POMC, TNF, IFNG
10tuberculosis29.9POMC, TNF, IFNG
11polycystic ovary syndrome29.9INS, CYP21A2
12hepatitis10.6
13alopecia universalis onychodystrophy vitiligo10.5
14antley-bixler syndrome10.5CYP21A2
15neurofibromatosis type 610.4
16alopecia totalis10.4
17empty sella syndrome10.4POMC
18melancholia10.4POMC
19hypoaldosteronism10.4POMC
20pituitary apoplexy10.4POMC
21endogenous depression10.4POMC
22psoriasis10.4
23satoyoshi syndrome10.4
24skin disease10.4POMC
25leishmaniasis10.3IFNG
26cafe au lait spots, multiple10.3
27leukemia10.3
28atopic dermatitis10.3
29pernicious anemia10.3
30dermatitis10.3
31lymphoblastic leukemia10.3
32watson syndrome10.3
33neurofibromatosis, type 110.3
34neurofibromatosis10.3
35hepatitis c virus10.3
36crohn's disease10.3
37lichen planus10.3
38down syndrome10.3
39total hypotrichosis, mari type10.3
40twenty-nail dystrophy10.3
41autoimmune polyendocrine syndrome type 110.3CYP21A2, AIRE
42autosomal recessive disease10.2CYP21A2, AIRE
43acute adrenal insufficiency10.2CYP21A2, POMC
44legius syndrome10.2
45mccune-albright syndrome, somatic, mosaic10.2
46conn's syndrome10.2CYP21A2, POMC
47hyperaldosteronism10.2CYP21A2, POMC
48adrenal gland hyperfunction10.2CYP21A2, POMC
49adrenal adenoma10.2CYP21A2, POMC
50precocious puberty10.2POMC, CYP21A2

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:

203655

Clinical features from OMIM:

203655

Symptoms:

 47
  • 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 6)
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 autosomal recessive inheritance HP:0000007
5 abnormality of metabolism/homeostasis HP:0001939
6 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 Universalis20 22 HR
2 Alopecia Universalis Congenita22

Anatomical Context for Alopecia Universalis

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MalaCards organs/tissues related to Alopecia Universalis:

31
Skin, Thyroid, Pituitary, Liver, T cells, Bone marrow, Bone, Monocytes

Animal Models for Alopecia Universalis or affiliated genes

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MGI Mouse Phenotypes related to Alopecia Universalis:

35 (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 117)
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 in Down syndrome: response to therapy. (17179625)
2006
15
Reversible alopecia universalis during treatment with PEG-interferon and ribavirin for chronic hepatitis C. (15920908)
2005
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
Alopecia universalis associated with Zumbusch-type generalized pustular psoriasis. (12077534)
2002
18
Severe dermographism after topical therapy with diphenylcyclopropenone for alopecia universalis. (10750852)
2000
19
The genetic basis of alopecia areata: HLA associations with patchy alopecia areata versus alopecia totalis and alopecia universalis. (10674369)
1999
20
Of hairless mice and men: the genetic basis of congenital alopecia universalis/congenital atrichia. (10575161)
1999
21
Alopecia universalis associated with a mutation in the human hairless gene. (9445480)
1998
22
Alopecia universalis with remission during pregnancy and prednisolone therapy. (9001169)
1997
23
Long-term results of topical immunotherapy in children with alopecia totalis or alopecia universalis. (8708020)
1996
24
Cytokines in alopecia areata: contrasting cytokine profiles in localized form and extensive form (alopecia universalis). (8982401)
1996
25
Alopecia universalis and cyclosporin A. (8915173)
1996
26
Alopecia universalis in liver transplant patients treated with cyclosporin. (7577610)
1995
27
HLA class II alleles in long-standing alopecia totalis/alopecia universalis and long-standing patchy alopecia areata differentiate these two clinical groups. (7738393)
1995
28
Rapid hair regrowth in refractory alopecia universalis associated with autoimmune disease following liver transplantation and tacrolimus (FK506) therapy. (7539169)
1995
29
A case of alopecia universalis without the involvement of scalp hairs. (7740842)
1995
30
E-selectin and interleukin-2 receptor alpha-chain expression in alopecia universalis. (7511865)
1994
31
Alopecia universalis as a single abnormality in an inbred Pakistani kindred. (8357006)
1993
32
Alopecia universalis in a patient seropositive for the human immunodeficiency virus. (8101531)
1993
33
Down syndrome, alopecia universalis, and trachyonychia. (8346118)
1993
34
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
35
Alopecia universalis treated with oral cyclosporine A and prednisolone: immunologic studies. (1500249)
1992
36
Simultaneous occurrence of SIADH, secondary hypogonadism and alopecia universalis in a woman with IDDM. (1666359)
1991
37
Application of psychoimmunotherapy in patients with alopecia universalis. (1801046)
1991
38
Effective therapy with low dose of oral cyclosporine A and prednisolone for alopecia universalis. (2241589)
1990
39
Angiogenic activity is defective in monocytes from patients with alopecia universalis. (1696299)
1990
40
Alopecia universalis in a patient with Marfan's syndrome. (2272800)
1990
41
Congenital alopecia universalis. (2632563)
1989
42
Alopecia universalis as a feature of polyglandular autoimmunity type I. (3176494)
1988
43
Hair growth in scalp grafts from patients with alopecia areata and alopecia universalis grafted onto nude mice. (3800422)
1987
44
Alopecia universalis in identical twins. (6539757)
1984
45
Spontaneous cell-mediated cytotoxicity (SCMC) in patients with alopecia universalis. (6172934)
1981
46
T cell subpopulations and their functions in vitro. A study in patients with alopecia areata and alopecia universalis. (6974701)
1981
47
Steroid therapy in alopecia universalis. A case report and review of the literature. (14025161)
1963
48
Long-term triamcinolone therapy of alopecia universalis. Case report. (14445785)
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:

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

Clinvar genetic disease variations for Alopecia Universalis:

6
id Gene Variation 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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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 Suite gene sharing:

(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 pathway36
9.3TNF, IFNG
7
Show member pathways
IL27-mediated signaling events36
9.3TNF, IFNG
8
Show member pathways
Transcription NF kB signaling pathway58
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response58
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 pathway36
9.3IFNG, TNF
20
Show member pathways
9.3IFNG, TNF
21
Show member pathways
Immune response MIF in innate immunity response58
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 pathway36
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 Suite gene sharing:

(show top 50)    (show all 87)
idCompoundScoreTop Affiliating Genes
1cortrosyn439.9CYP21A2, POMC
23beta-hydroxy-delta5-steroid439.9CYP21A2, POMC
321-deoxycortisol43 2410.9CYP21A2, POMC
4nafarelin43 59 28 1212.9POMC, CYP21A2
5fludrocortisone43 28 1211.9CYP21A2, POMC
6acth 1-24439.9CYP21A2, POMC
7cortisol28 2410.9CYP21A2, POMC
817-hydroxypregnenolone439.9POMC, CYP21A2
9doca439.9POMC, CYP21A2
1011 deoxycortisol439.9POMC, CYP21A2
11aminoglutethimide43 1210.9CYP21A2, POMC
12metyrapone43 59 1211.8POMC, CYP21A2
13interferon gamma439.8IFNG, TNF
14taurine chloramine439.7TNF, IFNG
15vesnarinone439.7IFNG, TNF
16gold sodium thiomalate439.7TNF, IFNG
17natalizumab43 1210.7IFNG, TNF
1817-hydroxyprogesterone43 2410.6POMC, CYP21A2
19il-12439.6TNF, IFNG
20adalimumab43 49 1211.6TNF, IFNG
21indoleamine439.6TNF, IFNG
22staurosporin439.6TNF, IFNG
23clomiphene citrate439.5INS, CYP21A2
24imiquimod43 59 28 1212.5IFNG, TNF
25spironolactone43 59 28 49 1213.5CYP21A2, POMC
26nash439.5INS, TNF
27polymyxin b439.4IFNG, TNF
28triptolide439.3IFNG, TNF
29budesonide43 49 1211.3IFNG, TNF, POMC
30fluticasone propionate43 49 59 1212.3TNF, IFNG, POMC
31okt3439.2IFNG, TNF
32cortisone43 2410.1POMC, INS, CYP21A2
33sb 20358043 5910.1IFNG, TNF, AIRE
34dehydroepiandrosterone sulfate439.1POMC, INS, CYP21A2
35dhea439.1CYP21A2, INS, POMC
36androstenedione43 2410.1POMC, CYP21A2, INS
37thyroxine43 2410.1INS, CYP21A2, POMC
38acth439.0INS, CYP21A2, POMC
39indomethacin43 28 59 1212.0POMC, TNF, IFNG
40gm-csf43 2810.0TNF, IFNG
41gnrh439.0POMC, CYP21A2, INS
42epinephrine43 24 1211.0CYP21A2, INS, POMC
43tacrolimus43 49 1210.9IFNG, TNF, INS
44prednisolone43 28 1210.8IFNG, CYP21A2, POMC, TNF
45norepinephrine43 24 1210.8INS, POMC, CYP21A2
46cycloheximide438.8POMC, IFNG, CYP21A2, TNF
47arginine438.4IFNG, CYP21A2, INS, POMC
48serine438.1AIRE, CYP21A2, INS, TNF, POMC
49hydrocortisone43 2 59 1211.0IFNG, POMC, TNF, INS, CYP21A2
50dexamethasone43 49 28 1211.0INS, CYP21A2, TNF, IFNG, POMC

GO Terms for genes affiliated with Alopecia Universalis

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Cellular components related to Alopecia Universalis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:00347749.0POMC, INS
2extracellular regionGO:00055768.0IFNG, POMC, TNF, INS
3extracellular spaceGO:00056157.7INS, TNF, POMC, IFNG

Biological processes related to Alopecia Universalis according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vitamin D biosynthetic processGO:00605579.6IFNG, TNF
2positive regulation of calcidiol 1-monooxygenase activityGO:00605599.6IFNG, TNF
3positive regulation of chemokine biosynthetic processGO:00450809.6IFNG, TNF
4positive regulation of membrane protein ectodomain proteolysisGO:00510449.6IFNG, TNF
5negative regulation of growth of symbiont in hostGO:00441309.5TNF, IFNG
6positive regulation of osteoclast differentiationGO:00456729.5TNF, IFNG
7protein import into nucleus, translocationGO:00000609.4IFNG, TNF
8negative regulation of lipid catabolic processGO:00509959.4TNF, INS
9extrinsic apoptotic signaling pathwayGO:00971919.2IFNG, TNF
10humoral immune responseGO:00069599.2AIRE, TNF, IFNG
11positive regulation of cytokine secretionGO:00507159.2INS, TNF
12positive regulation of mitosisGO:00458409.1TNF, INS
13positive regulation of protein kinase B signalingGO:00518979.1TNF, INS
14MAPK cascadeGO:00001658.8TNF, INS
15positive regulation of nitric oxide biosynthetic processGO:00454298.8IFNG, TNF, INS
16regulation of insulin secretionGO:00507968.8INS, TNF, IFNG
17positive regulation of transcription from RNA polymerase II promoterGO:00459448.6IFNG, POMC, TNF, AIRE

Molecular functions related to Alopecia Universalis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051799.1POMC, INS
2protease bindingGO:00020208.8TNF, INS
3identical protein bindingGO:00428028.6TNF, INS, AIRE

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet