ALUNC
MCID: ALP097
MIFTS: 57

Alopecia Universalis Congenita (ALUNC)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Alopecia Universalis Congenita

MalaCards integrated aliases for Alopecia Universalis Congenita:

Name: Alopecia Universalis Congenita 57 12 72 29 6 39
Alopecia Universalis 57 12 73 20 58 72 36 29 13 6 15 70 32
Alunc 57 72
Alopecia Areata Universalis 20
Atrichia, Generalized 57
Atrichia Generalized 72
Au 20

Characteristics:

Orphanet epidemiological data:

58
alopecia universalis
Prevalence: 1-5/10000 (Europe);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
alopecia universalis congenita:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050634
OMIM® 57 203655
OMIM Phenotypic Series 57 PS203655
KEGG 36 H01158
MeSH 44 D000505
ICD10 32 L63.1
MESH via Orphanet 45 C537055
ICD10 via Orphanet 33 L63.1
UMLS via Orphanet 71 C0263505
Orphanet 58 ORPHA701
MedGen 41 C1859877
UMLS 70 C0263505

Summaries for Alopecia Universalis Congenita

GARD : 20 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 the person's immune system mistakenly attacks the hair follicles. An interaction between genetic and environmental factors is thought to play a role in the condition's onset. There is currently no cure for AU, but sometimes hair regrowth occurs on its own, even after many years.

MalaCards based summary : Alopecia Universalis Congenita, also known as alopecia universalis, is related to immunodysregulation, polyendocrinopathy, and enteropathy, x-linked and vitiligo-associated multiple autoimmune disease susceptibility 1. An important gene associated with Alopecia Universalis Congenita is HR (HR Lysine Demethylase And Nuclear Receptor Corepressor), and among its related pathways/superpathways are T cell receptor signaling pathway and Th17 cell differentiation. The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include myeloid, skin and bone, and related phenotypes are absent eyelashes and absent eyebrow

Disease Ontology : 12 An alopecia characterized by the complete loss of hair on the scalp and body.

OMIM® : 57 Alopecia universalis congenita is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair (Nothen et al., 1998). This rare disorder is clearly distinct from alopecia areata (AA1; 104000), which has an autoimmune basis with probable genetic predisposition. (203655) (Updated 20-May-2021)

KEGG : 36 Alopecia universalis is the most severe form of alopecia areata, characterized by generalized scalp and body atrichia with papular lesions. Mutations in the gene HR coding for the Hairless protein are associated with alopecia universalis. It is inherited in autosomal recessive manner.

UniProtKB/Swiss-Prot : 72 Alopecia universalis congenita: A rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy.

Wikipedia : 73 Alopecia universalis (AU), also known as alopecia areata universalis, is a medical condition involving... more...

Related Diseases for Alopecia Universalis Congenita

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

(show top 50) (show all 341)
# Related Disease Score Top Affiliating Genes
1 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 31.4 IL2 CD8A CD4 AIRE
2 vitiligo-associated multiple autoimmune disease susceptibility 1 30.5 IL2 CD8A CD4 AIRE
3 atrichia with papular lesions 30.4 LCOR KRT86 HR
4 telogen effluvium 30.4 ULBP3 HR
5 follicular mucinosis 30.3 CD8A CD4
6 thymoma 30.1 IL2 CD8A AIRE
7 cholangitis, primary sclerosing 30.1 CD8A CD4 AIRE
8 exanthem 30.1 IL2 CD8A CD4
9 alopecia 29.9 KRT86 IL2 HR FOXN1 AIRE
10 alopecia areata 29.7 ULBP3 STX17 KLRK1 IL2 AIRE
11 herpes zoster 29.7 JAK1 IL2 CD8A CD4
12 leukemia, acute lymphoblastic 29.6 JAK3 JAK1 IL2 CD8A CD4
13 immune deficiency disease 29.5 KLRK1 JAK3 IL2 CD8A CD4 AIRE
14 myeloma, multiple 29.5 KLRK1 IL2 CD8A CD4
15 celiac disease 1 29.4 KLRK1 IL2 CD8A CD4 AIRE
16 hypotrichosis 7 11.5
17 alopecia universalis onychodystrophy vitiligo 11.4
18 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 11.3
19 alopecia-mental retardation syndrome 4 11.3
20 satoyoshi syndrome 11.1
21 olmsted syndrome 2 11.1
22 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality 11.1
23 alopecia totalis 10.5
24 vitiligo-associated multiple autoimmune disease susceptibility 6 10.5
25 dermatitis, atopic 10.4
26 dermatitis 10.4
27 hypothyroidism 10.4
28 pustulosis of palm and sole 10.4
29 psoriasis 10.4
30 cork-handlers' disease 10.3 CD8A CD4
31 necrotic uveal melanoma 10.3 CD8A CD4
32 wissler-fanconi syndrome 10.3 CD4 AIRE
33 early yaws 10.3 CD8A CD4
34 ventilation pneumonitis 10.3 CD8A CD4
35 diffuse infiltrative lymphocytosis syndrome 10.3 CD8A CD4
36 latent syphilis 10.3 CD8A CD4
37 type 1 diabetes mellitus 23 10.3 CD8A CD4
38 autoimmune lymphoproliferative syndrome, type iia 10.3 CD8A CD4
39 dendritic cell thymoma 10.3 CD4 AIRE
40 parapsoriasis 10.3 CD8A CD4
41 gastroduodenitis 10.3 CD8A CD4
42 duodenitis 10.3 CD8A CD4
43 primary syphilis 10.3 CD8A CD4
44 norwegian scabies 10.3 CD8A CD4
45 bird fancier's lung 10.3 CD8A CD4
46 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
47 variola major 10.3 CD8A CD4
48 tertiary syphilis 10.3 CD8A CD4
49 spongiotic dermatitis 10.3 CD8A CD4
50 acute retinal necrosis syndrome 10.3 CD8A CD4

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



Diseases related to Alopecia Universalis Congenita

Symptoms & Phenotypes for Alopecia Universalis Congenita

Human phenotypes related to Alopecia Universalis Congenita:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000561
2 absent eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002223
3 alopecia universalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002289
4 patchy alopecia 31 hallmark (90%) HP:0002232
5 alopecia 31 HP:0001596
6 abnormality of metabolism/homeostasis 31 HP:0001939
7 alopecia areata 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Hair:
alopecia universalis
no hair in hair follicles on skin biopsy

Clinical features from OMIM®:

203655 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Alopecia Universalis Congenita according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in CMK cells GR00105-A-0 8.62 JAK1 JAK3

MGI Mouse Phenotypes related to Alopecia Universalis Congenita:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.28 AIRE CD4 CD8A FOXN1 HR IL2

Drugs & Therapeutics for Alopecia Universalis Congenita

Drugs for Alopecia Universalis Congenita (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Neurotransmitter Agents Phase 2, Phase 3
3 abobotulinumtoxinA Phase 2, Phase 3
4 Cholinergic Agents Phase 2, Phase 3
5 Botulinum Toxins, Type A Phase 2, Phase 3
6 Botulinum Toxins Phase 2, Phase 3
7
tannic acid Approved Phase 2 1401-55-4
8
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
9 Janus Kinase Inhibitors Phase 2
10 Pharmaceutical Solutions Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Randomized Double-blind Placebo-controlled Trial of Intralesional Botulinum Toxin A Injection for Recalcitrant Alopecia Totalis and Alopecia Universalis Completed NCT00997815 Phase 2, Phase 3 Botulinum toxin A;Normal saline injection
2 Defining Reversal of Alopecia Areata (AA) Phenotype With Dupilumab in Patients With and Without Associated Atopic Dermatitis (AD) Completed NCT03359356 Phase 2 Dupilumab;Placebos
3 A Randomized, Double-blind, Vehicle-controlled Multicenter Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of ATI-50002 Topical Solution Administered Twice-Daily for 28 Days in Adult Subjects With Alopecia Universalis and Alopecia Totalis With a 12-Month Long-Term Open-Label Extension Completed NCT03315689 Phase 2 Vehicle;ATI-50002
4 A Randomized, Double-Blind, Placebo-Controlled Multicenter Study to Evaluate the Safety, Tolerability and Efficacy of ATI-501 Oral Suspension Compared to Placebo in Adult Subjects With Alopecia Areata, Alopecia Universalis or Alopecia Totalis Completed NCT03594227 Phase 2 ATI-501 400mg BID (Low dose);ATI-501 600mg BID (Mid dose);ATI-501 800mg BID (High dose);Placebo
5 An Open-Label Pilot Study of the Safety, Tolerability and Efficacy of ATI-50002 Topical Solution Administered Twice-Daily in Adult Subjects With Eyebrow Loss Due to Alopecia Areata, Alopecia Universalis or Alopecia Totalis Completed NCT03551821 Phase 2 ATI-50002
6 A PHASE 2a, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED STUDY INVESTIGATING THE SAFETY OF RITLECITINIB (PF-06651600) IN ADULT PARTICIPANTS WITH ALOPECIA AREATA Recruiting NCT04517864 Phase 2 PF-06651600;Placebo
7 An Open-Label (Part A) and a Double-Blind, Randomized, Placebo Controlled (Part B) Study, With an Open-Label Extension, of Ruxolitinib Phosphate Cream Applied Topically to Subjects With Alopecia Areata Terminated NCT02553330 Phase 2 Placebo Cream;Ruxolitinib Phosphate Cream
8 Open-Label Study of ATI-502 Topical Solution for the Treatment of Alopecia Areata (AA), Alopecia Universalis (AU) and Alopecia Totalis (AT) Terminated NCT03759340 Phase 2 ATI 502 0.46% Topical Solution

Search NIH Clinical Center for Alopecia Universalis Congenita

Genetic Tests for Alopecia Universalis Congenita

Genetic tests related to Alopecia Universalis Congenita:

# Genetic test Affiliating Genes
1 Alopecia Universalis Congenita 29 HR
2 Alopecia Universalis 29

Anatomical Context for Alopecia Universalis Congenita

MalaCards organs/tissues related to Alopecia Universalis Congenita:

40
Myeloid, Skin, Bone, Bone Marrow, Lung, Thymus, Pituitary

Publications for Alopecia Universalis Congenita

Articles related to Alopecia Universalis Congenita:

(show top 50) (show all 416)
# Title Authors PMID Year
1
A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia. 6 61
12406339 2002
2
A gene for universal congenital alopecia maps to chromosome 8p21-22. 61 57
9463324 1998
3
Alopecia universalis associated with a mutation in the human hairless gene. 57 61
9445480 1998
4
Alopecia universalis as a single abnormality in an inbred Pakistani kindred. 61 57
8357006 1993
5
Genetic disorders associated with severe alopecia in children: a report of two unusual cases and a review. 57 61
3323221 1987
6
Review of treatment for alopecia totalis and alopecia universalis. 61 20
28378336 2017
7
The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor. 6
11641275 2001
8
The "hairless" gene in mouse and man. 57
10376709 1999
9
A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. 57
9758627 1998
10
Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. 6
9736769 1998
11
Alopecia areata in aging C3H/HeJ mice. 57
8006447 1994
12
Atrichias and hypotrichoses: a brief review with description of a recessive atrichia in two brothers. 57
3972425 1985
13
Autosomal recessive inheritance of atrichia congenita. 57
7363508 1980
14
Alopecia congenita: report of two families. 57
14944849 1952
15
Successful Treatment of Long Standing Alopecia Totalis with Intralesional Methotrexate. 61
33780590 2021
16
Alopecia universalis following DRESS, where rarities merge. 61
33528077 2021
17
Tofacitinib as Treatment for Nail Lichen Planus Associated With Alopecia Universalis. 61
33404596 2021
18
Alopecia universalis: a patient's perspective of the cumulative life course impairment. 61
33740296 2021
19
Dupilumab treatment of atopic dermatitis leading to successful treatment of alopecia universalis: A Japanese case report. 61
33029817 2021
20
Therapeutic management in pediatric alopecia areata: a systematic review. 61
33630354 2021
21
Hydroxychloroquine treatment for Alopecia Universalis: Report of six cases. 61
32638352 2021
22
ccl13 is upregulated in alopecia areata lesions and is correlated with disease severity. 61
33523560 2021
23
Squaric acid dibutyl ester for the treatment of alopecia areata: A retrospective evaluation. 61
33377267 2021
24
Tofacitinib for the Treatment of Ulcerative Colitis, Alopecia Universalis, and Atopic Dermatitis: One Drug, Three Diseases. 61
32944765 2021
25
Demographic and Clinical Features of 1,641 Patients with Alopecia Areata, Alopecia Totalis, and Alopecia Universalis: A Single-Center Retrospective Study. 61
33614711 2021
26
Effectiveness of Oral Tofacitinib Dose Tapering in a Case of Alopecia Areata Universalis. 61
33614717 2021
27
Multiple Autoimmune Syndrome With Alopecia Universalis and Immune Thrombocytopenic Purpura. 61
33665054 2021
28
Alopecia areata: a review on diagnosis, immunological etiopathogenesis and treatment options. 61
33386567 2021
29
Alopecia universalis secondary to adalimumab treatment for psoriasis in a child. 61
32720476 2020
30
Monitoring Response to Platelet-Rich Plasma in Patients with Alopecia Areata with Optical Coherence Tomography: A Case Series. 61
33099385 2020
31
[Alopecia areata universalis under treatment with sitagliptin : Possible immunological effect of dipeptidyl peptidase-4 inhibitors?] 61
33205256 2020
32
Efficacy of systemic minoxidil and tofacitinib combination in treatment-resistant alopecia universalis. 61
33098729 2020
33
Alopecia universalis-like hair loss in acrodermatitis enteropathica. 61
32428274 2020
34
Validation of Case Identification for Alopecia Areata Using International Classification of Diseases Coding. 61
33531746 2020
35
Alopecia universalis after drug reaction with eosinophilia and systemic symptoms (Dress). 61
32524672 2020
36
Effectiveness of Dupilumab in the treatment of both atopic dermatitis and alopecia universalis. 61
32884748 2020
37
Association of alopecia with self-esteem in children and adolescents. 61
32829314 2020
38
Alopecia universalis and onychodystrophy during treatment with adalimumab. 61
33100536 2020
39
Clinical Experience with Oral Tofacitinib in a Patient with Alopecia Areata Universalis and Rheumatoid Arthritis. 61
33376289 2020
40
Cyclosporine With and Without Systemic Corticosteroids in Treatment of Alopecia Areata: A Systematic Review. 61
32270396 2020
41
Improvement of Psoriasis, Psoriatic Arthritis, and Alopecia Universalis during Treatment with Tofacitinib: A Case Report. 61
32999651 2020
42
Unexpected Hair Regrowth in a Patient with Longstanding Alopecia Universalis During Treatment of Recalcitrant Dermatomyositis with the Janus Kinase Inhibitor Ruxolitinib. 61
32285135 2020
43
Alopecia universalis treated with simvastatin/ezetimibe, minoxidil, and prednisolone in a 6-year-old girl. 61
31732969 2020
44
Pediatric alopecia areata. 61
32351186 2020
45
Epidemiology of alopecia areata, ophiasis, totalis, and universalis: A systematic review and meta-analysis. 61
31437543 2020
46
Analysis of the gut microbiota in alopecia areata: identification of bacterial biomarkers. 61
31419351 2020
47
A Large Cross-Sectional Survey Study of the Prevalence of Alopecia Areata in the United States. 61
32280257 2020
48
Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP. 61
31361044 2020
49
Unique clinical spectrum with distinguishing diagnostic features in Vogt-Koyanagi-Harada syndrome. 61
31888891 2019
50
Unusual skin toxicity associated with sustained disease response induced by nivolumab in a patient with non-small cell lung cancer. 61
31456503 2019

Variations for Alopecia Universalis Congenita

ClinVar genetic disease variations for Alopecia Universalis Congenita:

6 (show top 50) (show all 168)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HR NM_005144.4(HR):c.3407T>A (p.Val1136Asp) SNV Pathogenic 7331 rs121434448 GRCh37: 8:21973913-21973913
GRCh38: 8:22116400-22116400
2 HR HR, IVS12DS, G-A, +1 SNV Pathogenic 7332 GRCh37:
GRCh38:
3 HR NM_005144.4(HR):c.3034G>A (p.Asp1012Asn) SNV Pathogenic 7340 rs121434451 GRCh37: 8:21976740-21976740
GRCh38: 8:22119227-22119227
4 HR NM_005144.4(HR):c.2776+1G>A SNV Pathogenic 623309 rs773764015 GRCh37: 8:21977854-21977854
GRCh38: 8:22120341-22120341
5 HR NM_005144.5(HR):c.2818C>T (p.Arg940Ter) SNV Pathogenic 998304 GRCh37: 8:21977645-21977645
GRCh38: 8:22120132-22120132
6 HR NM_005144.4(HR):c.-136C>T SNV Uncertain significance 362535 rs766260543 GRCh37: 8:21988036-21988036
GRCh38: 8:22130523-22130523
7 HR NM_005144.4(HR):c.*30G>T SNV Uncertain significance 362472 rs369058841 GRCh37: 8:21973183-21973183
GRCh38: 8:22115670-22115670
8 HR NM_005144.4(HR):c.*303G>A SNV Uncertain significance 362464 rs181310087 GRCh37: 8:21972910-21972910
GRCh38: 8:22115397-22115397
9 HR NM_005144.4(HR):c.*734G>A SNV Uncertain significance 362462 rs536800865 GRCh37: 8:21972479-21972479
GRCh38: 8:22114966-22114966
10 HR NM_005144.4(HR):c.*1262G>C SNV Uncertain significance 362454 rs537998785 GRCh37: 8:21971951-21971951
GRCh38: 8:22114438-22114438
11 HR NM_005144.4(HR):c.3049C>T (p.Leu1017=) SNV Uncertain significance 362484 rs554642882 GRCh37: 8:21976725-21976725
GRCh38: 8:22119212-22119212
12 HR NM_005144.4(HR):c.1346T>G (p.Val449Gly) SNV Uncertain significance 362520 rs144744042 GRCh37: 8:21984609-21984609
GRCh38: 8:22127096-22127096
13 HR NM_005144.4(HR):c.*294C>T SNV Uncertain significance 362465 rs550603067 GRCh37: 8:21972919-21972919
GRCh38: 8:22115406-22115406
14 HR NM_005144.4(HR):c.1458A>G (p.Pro486=) SNV Uncertain significance 362518 rs144643140 GRCh37: 8:21983193-21983193
GRCh38: 8:22125680-22125680
15 HR NM_005144.4(HR):c.3296G>T (p.Arg1099Leu) SNV Uncertain significance 362478 rs771604649 GRCh37: 8:21974470-21974470
GRCh38: 8:22116957-22116957
16 HR NM_005144.4(HR):c.-443G>C SNV Uncertain significance 362540 rs886062812 GRCh37: 8:21988343-21988343
GRCh38: 8:22130830-22130830
17 HR NM_005144.4(HR):c.3537G>A (p.Lys1179=) SNV Uncertain significance 362474 rs779312247 GRCh37: 8:21973246-21973246
GRCh38: 8:22115733-22115733
18 HR NM_005144.4(HR):c.2566C>T (p.Arg856Trp) SNV Uncertain significance 362490 rs377059643 GRCh37: 8:21978273-21978273
GRCh38: 8:22120760-22120760
19 HR NM_005144.4(HR):c.184C>A (p.Pro62Thr) SNV Uncertain significance 362530 rs137929972 GRCh37: 8:21986500-21986500
GRCh38: 8:22128987-22128987
20 HR NM_005144.4(HR):c.3544G>A (p.Val1182Met) SNV Uncertain significance 362473 rs753736200 GRCh37: 8:21973239-21973239
GRCh38: 8:22115726-22115726
21 HR NM_005144.4(HR):c.-621T>C SNV Uncertain significance 362543 rs886062813 GRCh37: 8:21988521-21988521
GRCh38: 8:22131008-22131008
22 HR NM_005144.4(HR):c.*751G>C SNV Uncertain significance 362461 rs777189827 GRCh37: 8:21972462-21972462
GRCh38: 8:22114949-22114949
23 HR NM_005144.4(HR):c.3098-13C>G SNV Uncertain significance 362483 rs886062806 GRCh37: 8:21976591-21976591
GRCh38: 8:22119078-22119078
24 HR NM_005144.4(HR):c.*1150C>T SNV Uncertain significance 362456 rs185853861 GRCh37: 8:21972063-21972063
GRCh38: 8:22114550-22114550
25 HR NM_005144.4(HR):c.2777-10C>T SNV Uncertain significance 362486 rs767116700 GRCh37: 8:21977696-21977696
GRCh38: 8:22120183-22120183
26 HR NM_005144.4(HR):c.970C>T (p.Arg324Trp) SNV Uncertain significance 362526 rs143170974 GRCh37: 8:21984985-21984985
GRCh38: 8:22127472-22127472
27 HR NM_005144.4(HR):c.3340G>A (p.Gly1114Arg) SNV Uncertain significance 362476 rs886062805 GRCh37: 8:21974426-21974426
GRCh38: 8:22116913-22116913
28 HR NM_005144.4(HR):c.1484C>G (p.Ala495Gly) SNV Uncertain significance 362516 rs766524987 GRCh37: 8:21983167-21983167
GRCh38: 8:22125654-22125654
29 HR NM_005144.4(HR):c.1360A>G (p.Ile454Val) SNV Uncertain significance 362519 rs886062809 GRCh37: 8:21984595-21984595
GRCh38: 8:22127082-22127082
30 HR NM_005144.4(HR):c.2006-4C>T SNV Uncertain significance 362505 rs886062808 GRCh37: 8:21980125-21980125
GRCh38: 8:22122612-22122612
31 HR NM_005144.4(HR):c.2166C>T (p.Cys722=) SNV Uncertain significance 362503 rs200854129 GRCh37: 8:21979163-21979163
GRCh38: 8:22121650-22121650
32 HR NM_005144.4(HR):c.*597C>T SNV Uncertain significance 362463 rs886062803 GRCh37: 8:21972616-21972616
GRCh38: 8:22115103-22115103
33 HR NM_005144.4(HR):c.2212G>A (p.Asp738Asn) SNV Uncertain significance 362500 rs886062807 GRCh37: 8:21978733-21978733
GRCh38: 8:22121220-22121220
34 HR NM_005144.4(HR):c.2217C>T (p.Ser739=) SNV Uncertain significance 362499 rs574361484 GRCh37: 8:21978728-21978728
GRCh38: 8:22121215-22121215
35 HR NM_005144.4(HR):c.*820G>A SNV Uncertain significance 362460 rs142767236 GRCh37: 8:21972393-21972393
GRCh38: 8:22114880-22114880
36 HR NM_005144.4(HR):c.-326G>A SNV Uncertain significance 362536 rs886062810 GRCh37: 8:21988226-21988226
GRCh38: 8:22130713-22130713
37 HR NM_005144.4(HR):c.2367+14C>T SNV Uncertain significance 362496 rs112532092 GRCh37: 8:21978564-21978564
GRCh38: 8:22121051-22121051
38 HR NM_005144.4(HR):c.415C>T (p.Arg139Trp) SNV Uncertain significance 362528 rs148782064 GRCh37: 8:21986269-21986269
GRCh38: 8:22128756-22128756
39 HR NM_005144.4(HR):c.1632C>T (p.Ser544=) SNV Uncertain significance 362509 rs148562279 GRCh37: 8:21982942-21982942
GRCh38: 8:22125429-22125429
40 HR NM_005144.4(HR):c.-439A>G SNV Uncertain significance 362539 rs886062811 GRCh37: 8:21988339-21988339
GRCh38: 8:22130826-22130826
41 HR NM_005144.4(HR):c.-411C>T SNV Uncertain significance 362538 rs541887689 GRCh37: 8:21988311-21988311
GRCh38: 8:22130798-22130798
42 HR NM_005144.4(HR):c.2298G>A (p.Ala766=) SNV Uncertain significance 362498 rs145225497 GRCh37: 8:21978647-21978647
GRCh38: 8:22121134-22121134
43 HR NM_005144.4(HR):c.85G>A (p.Gly29Ser) SNV Uncertain significance 362532 rs774239265 GRCh37: 8:21986599-21986599
GRCh38: 8:22129086-22129086
44 HR NM_005144.4(HR):c.*185C>G SNV Uncertain significance 362468 rs886062804 GRCh37: 8:21973028-21973028
GRCh38: 8:22115515-22115515
45 HR NM_005144.4(HR):c.*180G>A SNV Uncertain significance 362469 rs564901808 GRCh37: 8:21973033-21973033
GRCh38: 8:22115520-22115520
46 HR NM_018411.4(HR):c.-579_-568CCGCCGCGCTCT[3] Microsatellite Uncertain significance 362541 rs568964531 GRCh37: 8:21988467-21988468
GRCh38: 8:22130954-22130955
47 HR NM_005144.4(HR):c.120G>A (p.Pro40=) SNV Uncertain significance 362531 rs757776752 GRCh37: 8:21986564-21986564
GRCh38: 8:22129051-22129051
48 HR NM_005144.4(HR):c.2203+6C>T SNV Uncertain significance 362502 rs761298317 GRCh37: 8:21979120-21979120
GRCh38: 8:22121607-22121607
49 HR NM_005144.5(HR):c.877G>A (p.Val293Ile) SNV Uncertain significance 908228 GRCh37: 8:21985078-21985078
GRCh38: 8:22127565-22127565
50 HR NM_005144.5(HR):c.639T>A (p.Ile213=) SNV Uncertain significance 908229 GRCh37: 8:21985316-21985316
GRCh38: 8:22127803-22127803

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

72
# Symbol AA change Variation ID SNP ID
1 HR p.Thr1022Ala VAR_005266 rs7014851
2 HR p.Val1136Asp VAR_005267 rs121434448
3 HR p.Asp1012Asn VAR_016222 rs121434451

Expression for Alopecia Universalis Congenita

Search GEO for disease gene expression data for Alopecia Universalis Congenita.

Pathways for Alopecia Universalis Congenita

Pathways related to Alopecia Universalis Congenita according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 JAK1 IL2 CD8A CD4
2
Show member pathways
12.39 JAK3 JAK1 IL2 CD4
3 12.34 JAK3 JAK1 IL2 CD8A
4
Show member pathways
12.29 ULBP3 RAET1L KLRK1 IL2
5 11.96 JAK3 JAK1 IL2 CD4
6 11.9 IL2 CD8A CD4
7 11.88 ULBP3 KLRK1 CD8A
8
Show member pathways
11.87 JAK3 JAK1 IL2
9
Show member pathways
11.77 IL2 CD8A CD4
10
Show member pathways
11.63 JAK3 JAK1 CD4
11 11.62 KLRK1 IL2 CD8A CD4
12
Show member pathways
11.51 JAK1 IL2 CD4
13 11.48 IL2 CD8A CD4
14 11.44 JAK3 JAK1 IL2
15
Show member pathways
11.37 JAK3 JAK1 IL2
16 11.36 KLRK1 IL2 CD8A CD4
17
Show member pathways
10.98 JAK3 JAK1 IL2
18 10.92 JAK3 JAK1 IL2 CD4
19 10.5 JAK3 CD8A CD4 AIRE

GO Terms for Alopecia Universalis Congenita

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.02 ULBP3 RAET1L KLRK1 CD8A CD4

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.81 JAK3 JAK1 IL2 CD4
2 adaptive immune response GO:0002250 9.8 KLRK1 JAK3 IL2 CD8A CD4
3 immune response GO:0006955 9.73 ULBP3 RAET1L IL2 CD8A CD4 AIRE
4 immune system process GO:0002376 9.7 ULBP3 RAET1L KLRK1 JAK3 IL2 CD8A
5 positive regulation of T cell proliferation GO:0042102 9.61 JAK3 IL2 CD4
6 natural killer cell mediated cytotoxicity GO:0042267 9.52 ULBP3 KLRK1
7 natural killer cell activation GO:0030101 9.5 ULBP3 KLRK1 IL2
8 interleukin-9-mediated signaling pathway GO:0038113 9.49 JAK3 JAK1
9 interleukin-21-mediated signaling pathway GO:0038114 9.48 JAK3 JAK1
10 enzyme linked receptor protein signaling pathway GO:0007167 9.46 JAK3 CD4
11 thymus epithelium morphogenesis GO:0097536 9.37 FOXN1 AIRE
12 interleukin-15-mediated signaling pathway GO:0035723 9.13 JAK3 JAK1 CD4
13 interleukin-2-mediated signaling pathway GO:0038110 8.8 JAK3 JAK1 IL2

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

# Name GO ID Score Top Affiliating Genes
1 protein phosphatase binding GO:0019903 8.8 STX17 JAK3 JAK1

Sources for Alopecia Universalis Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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