ALUNC
MCID: ALP097
MIFTS: 59

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 56 12 73 29 6 39
Alopecia Universalis 56 12 74 52 58 73 36 29 13 6 15 71 32
Alunc 56 73
Alopecia Areata Universalis 52
Atrichia, Generalized 56
Atrichia Generalized 73
Au 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 203655
OMIM Phenotypic Series 56 PS203655
KEGG 36 H01158
MeSH 43 D000505
ICD10 32 L63.1
MESH via Orphanet 44 C537055
ICD10 via Orphanet 33 L63.1
UMLS via Orphanet 72 C0263505
Orphanet 58 ORPHA701
MedGen 41 C1859877
UMLS 71 C0263505

Summaries for Alopecia Universalis Congenita

NIH Rare Diseases : 52 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 NF-kappaB Signaling and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and t cells, 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 : 56 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)

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 : 73 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 : 74 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 708)
# Related Disease Score Top Affiliating Genes
1 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 32.4 CD8A CD4 AIRE
2 vitiligo-associated multiple autoimmune disease susceptibility 1 31.1 CD8A CD4 AIRE
3 telogen effluvium 30.6 ULBP3 HR
4 follicular mucinosis 30.6 CD8A CD4
5 alopecia areata 30.3 ULBP3 STX17 KLRK1 AIRE
6 cholangitis, primary sclerosing 30.3 CD8A CD4 AIRE
7 exanthem 30.2 TNFRSF1B CD8A CD4
8 atrichia with papular lesions 30.1 LCOR KRT83 HR
9 variola major 30.1 CD8A CD4
10 spongiotic dermatitis 30.1 CD8A CD4
11 severe cutaneous adverse reaction 30.0 TNFRSF1B CD8A CD4
12 dacryoadenitis 29.9 CD8A CD4
13 alopecia 29.9 KRT83 HR FOXN1 AIRE
14 cowpox 29.8 KLRK1 CD8A CD4
15 herpes zoster 29.7 TNFRSF1B JAK1 CD8A CD4
16 myeloma, multiple 29.5 KLRK1 JAK1 CD8A CD4
17 leukemia, acute myeloid 28.7 LCOR KLRK1 JAK3 JAK1 CD8A CD4
18 cafe-au-lait spots, multiple 12.9
19 au-kline syndrome 12.8
20 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.7
21 alopecia universalis onychodystrophy vitiligo 12.6
22 legius syndrome 12.4
23 watson syndrome 12.2
24 gastrocutaneous syndrome 12.0
25 neurofibromatosis, type i 11.9
26 mccune-albright syndrome 11.8
27 hypotrichosis 7 11.8
28 mismatch repair cancer syndrome 11.7
29 satoyoshi syndrome 11.7
30 neurofibromatosis-noonan syndrome 11.6
31 neurofibromatosis 11.6
32 noonan syndrome with multiple lentigines 11.6
33 fibromatosis multiple non ossifying 11.5
34 fibrous dysplasia 11.4
35 phacomatosis pigmentovascularis 11.4
36 neurofibromatosis, familial spinal 11.4
37 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 11.4
38 ring chromosome 12 11.4
39 ring chromosome 15 11.4
40 ring chromosome 17 11.4
41 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality 11.4
42 alopecia-mental retardation syndrome 4 11.4
43 hyperpigmentation with or without hypopigmentation, familial progressive 11.3
44 microcephaly, growth restriction, and increased sister chromatid exchange 2 11.2
45 fanconi anemia, complementation group a 11.1
46 nijmegen breakage syndrome 11.1
47 rapadilino syndrome 11.1
48 cerebroretinal microangiopathy with calcifications and cysts 1 11.1
49 odonto onycho dysplasia with alopecia 11.1
50 pinheiro freire-maia miranda syndrome 11.1

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 abnormality of metabolism/homeostasis 31 HP:0001939
6 alopecia 31 HP:0001596
7 alopecia areata 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Hair:
alopecia universalis
no hair in hair follicles on skin biopsy

Clinical features from OMIM:

203655

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.28 AIRE CD4 CD8A FOXN1 HR JAK1

Drugs & Therapeutics for Alopecia Universalis Congenita

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

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4 Orange Approved Phase 4
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
7
Tofacitinib Approved, Investigational Phase 4 477600-75-2
8
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 Gastrointestinal Agents Phase 4
11 Methylprednisolone Acetate Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13 Neuroprotective Agents Phase 4
14 Antiemetics Phase 4
15 Protective Agents Phase 4
16 Janus Kinase Inhibitors Phase 4
17 Protein Kinase Inhibitors Phase 4
18 interferons Phase 4
19 Hormones Phase 4
20 Hormone Antagonists Phase 4
21 glucocorticoids Phase 4
22 Anti-Inflammatory Agents Phase 4
23 Immunosuppressive Agents Phase 4
24 Immunologic Factors Phase 4
25 triamcinolone acetonide Phase 4
26 Triamcinolone diacetate Phase 4
27 Triamcinolone hexacetonide Phase 4
28
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
29
Bexarotene Approved, Investigational Phase 2, Phase 3 153559-49-0 82146
30 abobotulinumtoxinA Phase 2, Phase 3
31 Cholinergic Agents Phase 2, Phase 3
32 Botulinum Toxins Phase 2, Phase 3
33 Botulinum Toxins, Type A Phase 2, Phase 3
34 Neurotransmitter Agents Phase 2, Phase 3
35
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
36
Vancomycin Approved Phase 2 1404-90-6 14969 441141
37
Metronidazole Approved Phase 2 443-48-1 4173
38
Glycerol Approved, Investigational Phase 2 56-81-5 753
39
Bisacodyl Approved Phase 2 603-50-9
40
Loperamide Approved Phase 2 53179-11-6 3955
41
Minoxidil Approved, Investigational Phase 2 38304-91-5 4201
42 Immunoglobulins Phase 2
43 Antibodies Phase 2
44 Cola Phase 2
45 Anti-Bacterial Agents Phase 2
46 Antibiotics, Antitubercular Phase 2
47 Anti-Infective Agents Phase 2
48 Antihypertensive Agents Phase 2
49 Vasodilator Agents Phase 2
50 Pharmaceutical Solutions Phase 2

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Oral Mega Pulse Methylprednisolone in Severe Therapy Resistant Alopecia Areata Completed NCT01167946 Phase 4 methylprednisolone sodium succinate;methylprednisolone sodium succinate;methylprednisolone sodium succinate
2 Effectiveness and Safety of Tofacitinib in Patients With Extensive and Recalcitrant Alopecia Areata Active, not recruiting NCT03800979 Phase 4 Tofacitinib
3 A Phase 4 Multicenter, Randomized, Placebo Controlled Trial of 3 Doses of Intralesional Triamcinolone (KENALOG®) In the Treatment of Mild to Moderate Patch Type Alopecia Areata Terminated NCT01898806 Phase 4 Intralesional Triamcinolone 2.5 mg/ml;Intralesional Triamcinolone 5 mg/ml;Intralesional Triamcinolone 10 mg/ml;Intralesional Saline
4 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
5 A Two Stage Phase II Randomized Bilateral Comparison of Topical Targretin® Gel 1% in Alopecia Areata Completed NCT00063076 Phase 2, Phase 3 Targretin Gel 1%
6 A PHASE 3 OPEN-LABEL, MULTI-CENTER, LONG-TERM STUDY INVESTIGATING THE SAFETY AND EFFICACY OF PF-06651600 IN ADULT AND ADOLESCENT PARTICIPANTS WITH ALOPECIA AREATA Recruiting NCT04006457 Phase 3 PF-06651600
7 A PHASE 2B/3 RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, DOSE-RANGING STUDY TO INVESTIGATE THE EFFICACY AND SAFETY OF PF-06651600 IN ADULT AND ADOLESCENT ALOPECIA AREATA (AA) SUBJECTS WITH 50% OR GREATER SCALP HAIR LOSS Recruiting NCT03732807 Phase 2, Phase 3 PF-06651600 Induction Dose;PF-06651600 Maintenance Dose #1;PF-06651600 Maintenance Dose #2;PF-06651600 Maintenance Dose #3;Placebo
8 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 AU and AT Completed NCT03315689 Phase 2 Vehicle;ATI-50002
9 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
10 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 Low dose;ATI-501 Mid dose;ATI-501 high dose;Placebos
11 Topical Tofacitinib for the Treatment of Alopecia Areata and Its Variants Completed NCT02812342 Phase 2 Tofacitinib ointment
12 A Randomized Placebo-controlled Single Center Pilot Study of the Safety and Efficacy of Tralokinumab in Subjects With Moderate to Severe Alopecia Areata Completed NCT02684097 Phase 2 Tralokinumab;Placebo
13 Open Label Clinical Trial to Evaluate the Efficacy of Fecal Microbiota Transplantation in Patients With Alopecia Areata Recruiting NCT04238091 Phase 2 Fecal material transfer therapy;Pre-FMT Antibiotic Cocktail;Bowel Prep
14 Defining Reversal of Alopecia Areata (AA) Phenotype With Dupilumab in Patients With and Without Associated Atopic Dermatitis (AD) Active, not recruiting NCT03359356 Phase 2 Dupilumab;Placebos
15 Clinical Treatment of Alopecia Areata With Stem Cell Educator Therapy and Oral Minoxidil Not yet recruiting NCT04011748 Phase 2
16 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
17 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
18 An Exploratory Study to Evaluate the Safety and Efficacy of Secukinumab in the Treatment of Extensive Alopecia Areata Terminated NCT02599129 Phase 2 Secukinumab;Placebo
19 Efalizumab in the Treatment of Alopecia Totalis/Universalis in Young Adults, Phase II Withdrawn NCT00746980 Phase 2 efalizumab
20 A Randomized, Double Blind, Placebo Controlled Clinical Trial to Evaluate the Efficacy of Abatacept Costimulatory Blockade in the Treatment of Alopecia Totalis/Universalis Withdrawn NCT01314495 Phase 2 Abatacept;Inactive infusion
21 Ocular Comorbidities of Alopecia Areata Unknown status NCT03155958
22 A Randomized Placebo-controlled Single Center Pilot Study of the Safety and Efficacy of Apremilast in Subjects With Moderate to Severe Alopecia Areata Unknown status NCT02684123 Apremilast;Placebo
23 Alopecia Areata Registry and Immunogenetic Mechanisms Active, not recruiting NCT00069589
24 A Randomised Control Trial of Integrative Cognitive Behavioural Therapy for Alopecia: A Pilot Study Active, not recruiting NCT04205214

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
Skin, Thyroid, T Cells, Pituitary, Bone, Liver, Bone Marrow

Publications for Alopecia Universalis Congenita

Articles related to Alopecia Universalis Congenita:

(show top 50) (show all 393)
# Title Authors PMID Year
1
Alopecia universalis associated with a mutation in the human hairless gene. 61 6 56
9445480 1998
2
A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia. 6 61
12406339 2002
3
A gene for universal congenital alopecia maps to chromosome 8p21-22. 61 56
9463324 1998
4
Alopecia universalis as a single abnormality in an inbred Pakistani kindred. 61 56
8357006 1993
5
Genetic disorders associated with severe alopecia in children: a report of two unusual cases and a review. 61 56
3323221 1987
6
Review of treatment for alopecia totalis and alopecia universalis. 61 52
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. 56
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. 56
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
The whn transcription factor encoded by the nude locus contains an evolutionarily conserved and functionally indispensable activation domain. 6
8790387 1996
12
Alopecia areata in aging C3H/HeJ mice. 56
8006447 1994
13
Atrichias and hypotrichoses: a brief review with description of a recessive atrichia in two brothers. 56
3972425 1985
14
Autosomal recessive inheritance of atrichia congenita. 56
7363508 1980
15
Alopecia congenita: report of two families. 56
14944849 1952
16
Alopecia universalis after drug reaction with eosinophilia and systemic symptoms (Dress). 61
32524672 2020
17
Cyclosporine With and Without Systemic Corticosteroids in Treatment of Alopecia Areata: A Systematic Review. 61
32270396 2020
18
Unexpected Hair Regrowth in a Patient with Longstanding Alopecia Universalis During Treatment of Recalcitrant Dermatomyositis with the Janus Kinase Inhibitor Ruxolitinib. 61
32285135 2020
19
Alopecia universalis-like hair loss in acrodermatitis enteropathica. 61
32428274 2020
20
Pediatric alopecia areata. 61
32351186 2020
21
Alopecia universalis treated with simvastatin/ezetimibe, minoxidil, and prednisolone in a 6-year-old girl. 61
31732969 2020
22
Epidemiology of alopecia areata, ophiasis, totalis, and universalis: A systematic review and meta-analysis. 61
31437543 2020
23
Analysis of the gut microbiota in alopecia areata: identification of bacterial biomarkers. 61
31419351 2020
24
A Large Cross-Sectional Survey Study of the Prevalence of Alopecia Areata in the United States. 61
32280257 2020
25
Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP. 61
31361044 2020
26
Unique clinical spectrum with distinguishing diagnostic features in Vogt-Koyanagi-Harada syndrome. 61
31888891 2019
27
Unusual skin toxicity associated with sustained disease response induced by nivolumab in a patient with non-small cell lung cancer. 61
31456503 2019
28
Successful application of add-on high-definition transcranial direct current stimulation in a schizophrenic patient with comorbid alopecia universalis. 61
31896886 2019
29
Experience with oral tofacitinib in two adolescents and seven adults with alopecia areata. 61
31621150 2019
30
Treatment of alopecia areata with nonablative fractional laser combined with topical minoxidil. 61
31245963 2019
31
Alopecia universalis. Partial response to tofacitinib. 61
30718001 2019
32
Alopecia Universalis in a Case of Rheumatoid Arthritis after Treatment with Etanercept. 61
31523110 2019
33
Alopecia areata in Tunisia: epidemio-clinical aspects and comorbid conditions. A prospective study of 204 cases. 61
30677128 2019
34
An urticarial drug eruption caused by tofacitinib for alopecia universalis. 61
30977965 2019
35
Treatment of alopecia areata: An Australian expert consensus statement. 61
30411329 2019
36
Serum and tissue angiotensin-converting enzyme in patients with alopecia areata. 61
29582789 2019
37
Alopecia areata: A multifactorial autoimmune condition. 61
30558963 2019
38
Dupilumab treatment for atopic dermatitis leading to unexpected treatment for alopecia universalis. 61
30671522 2019
39
Remission of alopecia universalis in a patient with atopic dermatitis treated with dupilumab. 61
30671524 2019
40
Systemic treatments for alopecia areata: A systematic review. 61
30191561 2019
41
Comparison of the Treatment Outcome of Oral Tofacitinib with Other Conventional Therapies in Refractory Alopecia Totalis and Universalis: A Retrospective Study. 61
30281139 2019
42
Janus Kinase Inhibitors for the Treatment of Severe Alopecia Areata: An Open-Label Comparative Study. 61
30566941 2019
43
Alopecia Universalis and Atopic Dermatitis Improvement with Dupilumab: Demonstration of a Shared Pathophysiology and Clinical Efficacy. 61
31145072 2019
44
Treatment of alopecia universalis with topical Janus kinase inhibitors - a double blind, placebo, and active controlled pilot study. 61
30160787 2018
45
Alopecia areata and overt thyroid diseases: A nationwide population-based study. 61
30222206 2018
46
Relapsing Course of Sulfasalazine-Induced Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Complicated by Alopecia Universalis and Vitiligo. 61
30578426 2018
47
Suspected Herpes Zoster-associated Encephalitis during Treatment with Oral Tofacitinib in Alopecia Universalis. 61
30783338 2018
48
Risk of sun-induced skin cancers in patients with alopecia areata, alopecia totalis and alopecia universalis. 61
29679494 2018
49
Alopecia Universalis and Chronic Graft-vs-Host Disease Treated With Ruxolitinib. 61
30285060 2018
50
Is methotrexate an effective and safe treatment for maintaining hair regrowth in people with alopecia totalis? A Critically Appraised Topic. 61
29777625 2018

Variations for Alopecia Universalis Congenita

ClinVar genetic disease variations for Alopecia Universalis Congenita:

6 (show top 50) (show all 167) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HR NM_005144.4(HR):c.2776+1G>ASNV Pathogenic 623309 rs773764015 8:21977854-21977854 8:22120341-22120341
2 HR NM_005144.4(HR):c.3407T>A (p.Val1136Asp)SNV Pathogenic 7331 rs121434448 8:21973913-21973913 8:22116400-22116400
3 HR HR, IVS12DS, G-A, +1SNV Pathogenic 7332
4 HR NM_005144.4(HR):c.3034G>A (p.Asp1012Asn)SNV Pathogenic 7340 rs121434451 8:21976740-21976740 8:22119227-22119227
5 HR NM_005144.4(HR):c.1527G>A (p.Gly509=)SNV Conflicting interpretations of pathogenicity 731608 8:21983124-21983124 8:22125611-22125611
6 HR NM_005144.4(HR):c.970C>T (p.Arg324Trp)SNV Conflicting interpretations of pathogenicity 362526 rs143170974 8:21984985-21984985 8:22127472-22127472
7 HR NM_005144.4(HR):c.-136C>TSNV Uncertain significance 362535 rs766260543 8:21988036-21988036 8:22130523-22130523
8 HR NM_005144.4(HR):c.-411C>TSNV Uncertain significance 362538 rs541887689 8:21988311-21988311 8:22130798-22130798
9 HR NM_005144.4(HR):c.3544G>A (p.Val1182Met)SNV Uncertain significance 362473 rs753736200 8:21973239-21973239 8:22115726-22115726
10 HR NM_005144.4(HR):c.3537G>A (p.Lys1179=)SNV Uncertain significance 362474 rs779312247 8:21973246-21973246 8:22115733-22115733
11 HR NM_005144.4(HR):c.3049C>T (p.Leu1017=)SNV Uncertain significance 362484 rs554642882 8:21976725-21976725 8:22119212-22119212
12 HR NM_005144.4(HR):c.2566C>T (p.Arg856Trp)SNV Uncertain significance 362490 rs377059643 8:21978273-21978273 8:22120760-22120760
13 HR NM_005144.4(HR):c.*597C>TSNV Uncertain significance 362463 rs886062803 8:21972616-21972616 8:22115103-22115103
14 HR NM_005144.4(HR):c.1458A>G (p.Pro486=)SNV Uncertain significance 362518 rs144643140 8:21983193-21983193 8:22125680-22125680
15 HR NM_005144.4(HR):c.1346T>G (p.Val449Gly)SNV Uncertain significance 362520 rs144744042 8:21984609-21984609 8:22127096-22127096
16 HR NM_005144.4(HR):c.*185C>GSNV Uncertain significance 362468 rs886062804 8:21973028-21973028 8:22115515-22115515
17 HR NM_005144.4(HR):c.*180G>ASNV Uncertain significance 362469 rs564901808 8:21973033-21973033 8:22115520-22115520
18 HR NM_005144.4(HR):c.3098-13C>GSNV Uncertain significance 362483 rs886062806 8:21976591-21976591 8:22119078-22119078
19 HR NM_005144.4(HR):c.2777-10C>TSNV Uncertain significance 362486 rs767116700 8:21977696-21977696 8:22120183-22120183
20 HR NM_005144.4(HR):c.2566C>G (p.Arg856Gly)SNV Uncertain significance 362491 rs377059643 8:21978273-21978273 8:22120760-22120760
21 HR NM_005144.4(HR):c.2298G>A (p.Ala766=)SNV Uncertain significance 362498 rs145225497 8:21978647-21978647 8:22121134-22121134
22 HR NM_005144.4(HR):c.2217C>T (p.Ser739=)SNV Uncertain significance 362499 rs574361484 8:21978728-21978728 8:22121215-22121215
23 HR NM_005144.4(HR):c.2212G>A (p.Asp738Asn)SNV Uncertain significance 362500 rs886062807 8:21978733-21978733 8:22121220-22121220
24 HR NM_005144.4(HR):c.1360A>G (p.Ile454Val)SNV Uncertain significance 362519 rs886062809 8:21984595-21984595 8:22127082-22127082
25 HR NM_005144.4(HR):c.1276C>T (p.Pro426Ser)SNV Uncertain significance 362522 rs151036296 8:21984679-21984679 8:22127166-22127166
26 HR NM_005144.4(HR):c.120G>A (p.Pro40=)SNV Uncertain significance 362531 rs757776752 8:21986564-21986564 8:22129051-22129051
27 HR NM_005144.4(HR):c.-443G>CSNV Uncertain significance 362540 rs886062812 8:21988343-21988343 8:22130830-22130830
28 HR NM_018411.4(HR):c.-579_-568CCGCCGCGCTCT[3]short repeat Uncertain significance 362541 rs568964531 8:21988467-21988468 8:22130954-22130955
29 HR NM_005144.4(HR):c.*1262G>CSNV Uncertain significance 362454 rs537998785 8:21971951-21971951 8:22114438-22114438
30 HR NM_005144.4(HR):c.*1150C>TSNV Uncertain significance 362456 rs185853861 8:21972063-21972063 8:22114550-22114550
31 HR NM_005144.4(HR):c.2367+14C>TSNV Uncertain significance 362496 rs112532092 8:21978564-21978564 8:22121051-22121051
32 HR NM_005144.4(HR):c.2203+6C>TSNV Uncertain significance 362502 rs761298317 8:21979120-21979120 8:22121607-22121607
33 HR NM_005144.4(HR):c.2006-4C>TSNV Uncertain significance 362505 rs886062808 8:21980125-21980125 8:22122612-22122612
34 HR NM_005144.4(HR):c.1484C>G (p.Ala495Gly)SNV Uncertain significance 362516 rs766524987 8:21983167-21983167 8:22125654-22125654
35 HR NM_005144.4(HR):c.*820G>ASNV Uncertain significance 362460 rs142767236 8:21972393-21972393 8:22114880-22114880
36 HR NM_005144.4(HR):c.*294C>TSNV Uncertain significance 362465 rs550603067 8:21972919-21972919 8:22115406-22115406
37 HR NM_005144.4(HR):c.415C>T (p.Arg139Trp)SNV Uncertain significance 362528 rs148782064 8:21986269-21986269 8:22128756-22128756
38 HR NM_005144.4(HR):c.*30G>TSNV Uncertain significance 362472 rs369058841 8:21973183-21973183 8:22115670-22115670
39 HR NM_005144.4(HR):c.-326G>ASNV Uncertain significance 362536 rs886062810 8:21988226-21988226 8:22130713-22130713
40 HR NM_005144.4(HR):c.3340G>A (p.Gly1114Arg)SNV Uncertain significance 362476 rs886062805 8:21974426-21974426 8:22116913-22116913
41 HR NM_005144.4(HR):c.-621T>CSNV Uncertain significance 362543 rs886062813 8:21988521-21988521 8:22131008-22131008
42 HR NM_005144.4(HR):c.3296G>T (p.Arg1099Leu)SNV Uncertain significance 362478 rs771604649 8:21974470-21974470 8:22116957-22116957
43 HR NM_005144.4(HR):c.2166C>T (p.Cys722=)SNV Uncertain significance 362503 rs200854129 8:21979163-21979163 8:22121650-22121650
44 HR NM_005144.4(HR):c.1632C>T (p.Ser544=)SNV Uncertain significance 362509 rs148562279 8:21982942-21982942 8:22125429-22125429
45 HR NM_005144.5(HR):c.*1270T>CSNV Uncertain significance 911787 8:21971943-21971943 8:22114430-22114430
46 HR NM_005144.5(HR):c.*1253T>CSNV Uncertain significance 908818 8:21971960-21971960 8:22114447-22114447
47 HR NM_005144.5(HR):c.*1145C>TSNV Uncertain significance 908819 8:21972068-21972068 8:22114555-22114555
48 HR NM_005144.5(HR):c.*1125C>TSNV Uncertain significance 908820 8:21972088-21972088 8:22114575-22114575
49 HR NM_005144.5(HR):c.*1054C>TSNV Uncertain significance 909670 8:21972159-21972159 8:22114646-22114646
50 HR NM_005144.5(HR):c.*1020C>ASNV Uncertain significance 909671 8:21972193-21972193 8:22114680-22114680

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

73
# 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

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 11)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.76 TNFRSF1B JAK3 JAK1 CD4
2 immune system process GO:0002376 9.73 ULBP3 RAET1L KLRK1 JAK3 CD8A CD4
3 natural killer cell activation GO:0030101 9.49 ULBP3 KLRK1
4 natural killer cell mediated cytotoxicity GO:0042267 9.48 ULBP3 KLRK1
5 interleukin-2-mediated signaling pathway GO:0038110 9.43 JAK3 JAK1
6 immune response GO:0006955 9.43 ULBP3 TNFRSF1B RAET1L CD8A CD4 AIRE
7 interleukin-9-mediated signaling pathway GO:0038113 9.4 JAK3 JAK1
8 interleukin-21-mediated signaling pathway GO:0038114 9.37 JAK3 JAK1
9 enzyme linked receptor protein signaling pathway GO:0007167 9.32 JAK3 CD4
10 thymus epithelium morphogenesis GO:0097536 9.16 FOXN1 AIRE
11 interleukin-15-mediated signaling pathway GO:0035723 8.8 JAK3 JAK1 CD4

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

# Name GO ID Score Top Affiliating Genes
1 MHC class I protein binding GO:0042288 8.96 KLRK1 CD8A
2 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
28 GO
29 GTR
30 HMDB
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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