ALUNC
MCID: ALP097
MIFTS: 53

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 58 12 76 30 6 41
Alopecia Universalis 58 12 77 54 60 76 38 13 6 15 74
Alunc 58 76
Alopecia Areata Universalis 54
Atrichia, Generalized 58
Atrichia Generalized 76
Au 54

Characteristics:

Orphanet epidemiological data:

60
alopecia universalis
Prevalence: 1-5/10000 (Europe);

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
alopecia universalis congenita:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050634
OMIM 58 203655
KEGG 38 H01158
MeSH 45 D000505
ICD10 34 L63.1
MESH via Orphanet 46 C537055
ICD10 via Orphanet 35 L63.1
UMLS via Orphanet 75 C0263505
Orphanet 60 ORPHA701
MedGen 43 C1859877
UMLS 74 C0263505

Summaries for Alopecia Universalis Congenita

NIH Rare Diseases : 54 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 nail disorder, nonsyndromic congenital, 1 and alopecia. An important gene associated with Alopecia Universalis Congenita is HR (HR Lysine Demethylase And Nuclear Receptor Corepressor). The drugs Orange and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include skin, pituitary and thyroid, 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 : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Alopecia universalis (AU) or alopecia areata universalis is a medical condition involving loss of all... 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 270)
# Related Disease Score Top Affiliating Genes
1 nail disorder, nonsyndromic congenital, 1 29.7 AIRE MBTPS2
2 alopecia 29.5 AIRE FOXN1 HR MBTPS2
3 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.5
4 cafe-au-lait spots, multiple 12.5
5 au-kline syndrome 12.5
6 alopecia universalis onychodystrophy vitiligo 12.5
7 autosomal dominant café au lait spots 12.3
8 legius syndrome 12.1
9 watson syndrome 11.9
10 gastrocutaneous syndrome 11.7
11 neurofibromatosis, type i 11.7
12 hypotrichosis 7 11.6
13 alopecia areata 11.6
14 satoyoshi syndrome 11.6
15 neurofibromatosis, type iv, of riccardi 11.6
16 mccune-albright syndrome 11.5
17 fibrous dysplasia 11.3
18 phacomatosis pigmentovascularis 11.3
19 ring chromosome 12 11.3
20 ring chromosome 15 11.3
21 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 11.3
22 alopecia, epilepsy, pyorrhea, mental subnormality 11.3
23 mismatch repair cancer syndrome 11.2
24 hyperpigmentation with or without hypopigmentation, familial progressive 11.1
25 neurofibromatosis-noonan syndrome 11.1
26 microcephaly, growth restriction, and increased sister chromatid exchange 2 11.1
27 fibromatosis multiple non ossifying 11.1
28 neurofibromatosis, familial spinal 11.0
29 nijmegen breakage syndrome 11.0
30 odonto onycho dysplasia with alopecia 11.0
31 pinheiro freire-maia miranda syndrome 11.0
32 ring chromosome 17 11.0
33 ring chromosome 7 11.0
34 alopecia totalis 10.5
35 hepatitis 10.4
36 hepatitis c 10.4
37 primary orthostatic tremor 10.4
38 pemphigus foliaceus 10.3
39 diabetes mellitus 10.3
40 psoriasis 10.3
41 rapidly involuting congenital hemangioma 10.3
42 intraocular pressure quantitative trait locus 10.3
43 nodular lymphocyte predominant hodgkin lymphoma 10.3
44 streptococcal group a invasive disease 10.2
45 dermatitis, atopic 10.2
46 hypothyroidism 10.2
47 dermatitis 10.2
48 pernicious anemia 10.1
49 psoriatic arthritis 10.1
50 leukemia, acute lymphoblastic 10.1

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:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absent eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000561
2 absent eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0002223
3 alopecia universalis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002289
4 alopecia areata 60 33 hallmark (90%) Very frequent (99-80%) HP:0002229
5 abnormality of metabolism/homeostasis 33 HP:0001939
6 alopecia 33 HP:0001596

Symptoms via clinical synopsis from OMIM:

58
Hair:
alopecia universalis

Lab:
no hair in hair follicles on skin biopsy

Clinical features from OMIM:

203655

MGI Mouse Phenotypes related to Alopecia Universalis Congenita:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 AIRE FOXN1 HLA-DOA HR KDM5A NOTCH4
2 embryo MP:0005380 9.83 FOXN1 HLA-DOA HR NOTCH4 WDR11
3 endocrine/exocrine gland MP:0005379 9.8 AIRE FOXN1 HR KDM5A WDR11
4 mortality/aging MP:0010768 9.8 AIRE FOXN1 HLA-DOA HR KDM5A NOTCH4
5 liver/biliary system MP:0005370 9.62 AIRE FOXN1 HR WDR11
6 neoplasm MP:0002006 9.46 AIRE FOXN1 HR KDM5A
7 normal MP:0002873 9.35 AIRE FOXN1 HLA-DOA KDM5A NOTCH4
8 vision/eye MP:0005391 9.02 AIRE FOXN1 HR NOTCH4 WDR11

Drugs & Therapeutics for Alopecia Universalis Congenita

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Orange Approved Phase 4
2
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6
Tofacitinib Approved, Investigational Phase 4,Phase 2,Not Applicable 477600-75-2
7
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
8 Prednisolone acetate Phase 4
9 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Not Applicable
10 Anti-Inflammatory Agents Phase 4,Not Applicable
11 Hormones Phase 4
12 Autonomic Agents Phase 4
13 Antineoplastic Agents, Hormonal Phase 4
14 Hormone Antagonists Phase 4
15 Antiemetics Phase 4
16 Methylprednisolone Acetate Phase 4
17 Neuroprotective Agents Phase 4
18 Gastrointestinal Agents Phase 4
19 glucocorticoids Phase 4
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
21 Protective Agents Phase 4
22 Protein Kinase Inhibitors Phase 4,Phase 2,Not Applicable
23 Janus Kinase Inhibitors Phase 4,Phase 2
24 interferons Phase 4
25
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
26
Bexarotene Approved, Investigational Phase 2, Phase 3 153559-49-0 82146
27 Botulinum Toxins Phase 2, Phase 3
28 Neuromuscular Agents Phase 2, Phase 3
29 abobotulinumtoxinA Phase 2, Phase 3
30 Cholinergic Agents Phase 2, Phase 3
31 Acetylcholine Release Inhibitors Phase 2, Phase 3
32 Neurotransmitter Agents Phase 2, Phase 3
33 Botulinum Toxins, Type A Phase 2, Phase 3
34 Pharmaceutical Solutions Phase 2
35 Antibodies, Monoclonal Phase 2
36 Immunoglobulins Phase 2
37 Antibodies Phase 2
38 Immunologic Factors Phase 2,Not Applicable
39 Antirheumatic Agents Phase 2,Not Applicable
40 Immunosuppressive Agents Phase 2,Not Applicable
41
Apremilast Approved, Investigational Not Applicable 608141-41-9 11561674
42 Angiogenesis Inhibitors Not Applicable
43 Angiogenesis Modulating Agents Not Applicable
44 Anti-Bacterial Agents Not Applicable
45 Anti-Infective Agents Not Applicable
46 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
47 Analgesics, Non-Narcotic Not Applicable
48 Analgesics Not Applicable

Interventional clinical trials:

(show all 22)
# 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 Recruiting NCT03800979 Phase 4 Tofacitinib
3 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
4 Phase II Randomized Bilateral Comparison of Topical Targretin Gel 1% in Alopecia Areata Completed NCT00063076 Phase 2, Phase 3 Targretin Gel 1%
5 PF-06651600 for the Treatment of Alopecia Areata 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
6 Open Label Study of ATI-50002 Topical Solution Administered to Adult Subjects With Eyebrow Loss Due to Alopecia Areata Completed NCT03551821 Phase 2 ATI-50002
7 Topical Tofacitinib for the Treatment of Alopecia Areata and Its Variants Completed NCT02812342 Phase 2 Tofacitinib ointment
8 A Pilot Study of Tralokinumab in Subjects With Moderate to Severe Alopecia Areata Completed NCT02684097 Phase 2 Tralokinumab;Placebo
9 Tofacitnib for the Treatment of Alopecia Areata and Variants Completed NCT02197455 Phase 2 Tofacitinib Administration
10 Treatment of Alopecia Areata (AA) With Dupilumab in Patients With and Without Atopic Dermatitis (AD) Recruiting NCT03359356 Phase 2 Dupilumab;Placebos
11 ATI-501 Oral Suspension Compared to Placebo in Subjects With Alopecia Areata, Alopecia Universalis or Alopecia Totalis Active, not recruiting NCT03594227 Phase 2 ATI-501 Low dose;ATI-501 Mid dose;ATI-501 high dose;Placebos
12 Safety and Pharmacokinetic Study of ATI-50002 in Subjects With Alopecia Universalis (AU) and Alopecia Totalis (AT) Active, not recruiting NCT03315689 Phase 2 Vehicle;ATI-50002
13 ATI-502 Topical Solution for the Treatment of Alopecia Areata (AA), Alopecia Universalis (AU) and Alopecia Totalis (AT) Not yet recruiting NCT03759340 Phase 2 ATI 502 0.46% Topical Solution
14 Phase 2 Trial of BNZ-1 in Patients With Moderate to Severe Alopecia Areata Not yet recruiting NCT03532958 Phase 2 BNZ-1;Normal saline
15 A Study of Secukinumab for the Treatment of Alopecia Areata Terminated NCT02599129 Phase 2 Secukinumab;Placebo
16 A Study With Ruxolitinib Phosphate Cream Applied Topically to Subjects With Alopecia Areata (AA) Terminated NCT02553330 Phase 2 Placebo Cream;Ruxolitinib Phosphate Cream
17 Efalizumab in the Treatment of Alopecia, Phase II Withdrawn NCT00746980 Phase 2 efalizumab
18 Abatacept Costimulatory Blockade in the Treatment of Alopecia Totalis/Universalis Withdrawn NCT01314495 Phase 2 Abatacept;Inactive infusion
19 Tofacitinib for the Treatment of Alopecia Areata and Its Variants Completed NCT02312882 Not Applicable Tofacitinib
20 Pilot Study of the Safety and Efficacy of Apremilast in Subjects With Moderate to Severe Alopecia Areata Active, not recruiting NCT02684123 Not Applicable Apremilast;Placebo
21 Alopecia Areata Registry Active, not recruiting NCT00069589
22 Ocular Finding in Alopecia Areata Not yet recruiting NCT03155958

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 30 HR

Anatomical Context for Alopecia Universalis Congenita

MalaCards organs/tissues related to Alopecia Universalis Congenita:

42
Skin, Pituitary, Thyroid, Liver, Bone, T Cells, Bone Marrow

Publications for Alopecia Universalis Congenita

Articles related to Alopecia Universalis Congenita:

(show top 50) (show all 166)
# Title Authors Year
1
Dupilumab treatment for atopic dermatitis leading to unexpected treatment for alopecia universalis. ( 30671522 )
2019
2
Remission of alopecia universalis in a patient with atopic dermatitis treated with dupilumab. ( 30671524 )
2019
3
Alopecia universalis. Partial response to tofacitinib. ( 30718001 )
2019
4
Topical 2% tofacitinib for children with alopecia areata, alopecia totalis, and alopecia universalis. ( 29754888 )
2018
5
Risk of sun-induced skin cancers in patients with alopecia areata, alopecia totalis and alopecia universalis. ( 29679494 )
2018
6
Suspected Herpes Zoster-associated Encephalitis during Treatment with Oral Tofacitinib in Alopecia Universalis. ( 30783338 )
2018
7
Relapsing Course of Sulfasalazine-Induced Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Complicated by Alopecia Universalis and Vitiligo. ( 30578426 )
2018
8
Alopecia Universalis and Chronic Graft-vs-Host Disease Treated With Ruxolitinib. ( 30285060 )
2018
9
Alopecia universalis in a patient with rheumatoid arthritis developed during treatment with adalimumab. ( 29744570 )
2018
10
Complete Regrowth of Beard Hair with Ruxolitinib in an Alopecia Universalis Patient. ( 29765973 )
2018
11
Simultaneous improvement of alopecia universalis and atopic dermatitis in a patient treated with a JAK inhibitor. ( 30023415 )
2018
12
Treatment of alopecia universalis with topical Janus kinase inhibitors - a double blind, placebo, and active controlled pilot study. ( 30160787 )
2018
13
Balance of tofacitinib efficacy and disease flare in the treatment of alopecia universalis: A case report and review of the literature. ( 30167448 )
2018
14
A Case Report Highlighting the Effective Treatment of Alopecia Universalis With Tofacitinib in an Adolescent and Adult Patient. ( 29463114 )
2018
15
Alopecia Universalis Associated with Ulcerative Colitis and The Role of Azathioprine. ( 29682249 )
2018
16
Successful treatment of refractory alopecia universalis by persuading a patient not to sleep with her dog. ( 29092781 )
2018
17
Multi-Concentration Level Patch Test Guided Diphenyl Cyclopropenone (DPCP) Treatment in Alopecia Totalis or Alopecia Universalis. ( 29911776 )
2017
18
Rare Presentation of Alopecia Universalis Congenita and Twenty-nail Dystrophy in Siblings. ( 28839389 )
2017
19
Review of treatment for alopecia totalis and alopecia universalis. ( 28378336 )
2017
20
Experience with oral tofacitinib in 8 adolescent patients with alopecia universalis. ( 28325392 )
2017
21
Excellent response to tofacitinib treatment in a patient with alopecia universalis. ( 28632888 )
2017
22
Treatment of alopecia universalis with oral alitretinoin: A case report. ( 28349112 )
2017
23
Pyridostigmine-Induced Bradycardia in Patient With MuSK-Ab-Positive Myasthenia Gravis and Alopecia Universalis. ( 28827491 )
2017
24
Image Gallery: Treatment of refractory alopecia universalis with oral tofacitinib citrate and adjunct intralesional triamcinolone injections. ( 28581223 )
2017
25
Brazilian Experience of the Treatment of Alopecia Universalis with the Novel Antirheumatic Therapy Tofacitinib: A Case Series. ( 28755063 )
2017
26
Efficacy of superficial cryotherapy on the eyebrows of patients with alopecia universalis also treated with contact immunotherapy on the scalp: a prospective, split-face comparative study. ( 28074525 )
2017
27
Recovery of hair in the psoriatic plaques of a patient with coexistent alopecia universalis. ( 28492603 )
2017
28
Long-Term Prognosis of Alopecia Totalis and Alopecia Universalis: A Longitudinal Study with More than 10 Years of Follow-Up: Better than Reported. ( 28704810 )
2017
29
Successful hair regrowth in a Korean patient with alopecia universalis following tofacitinib treatment. ( 28536724 )
2017
30
Alopecia universalis unresponsive to treatment with tofacinitib: report of a case with a brief review of the literature. ( 29469706 )
2017
31
Alopecia Universalis following Alemtuzumab Treatment in Multiple Sclerosis: A Barely Recognized Manifestation of Secondary Autoimmunity-Report of a Case and Review of the Literature. ( 29163335 )
2017
32
Efficacy of tofacitinib in treatment of alopecia universalis in two patients. ( 27306107 )
2016
33
Tofacitinib Citrate for the Treatment of Nail Dystrophy Associated With Alopecia Universalis. ( 26630079 )
2016
34
Alopecia universalis in a patient with Sheehan's syndrome. ( 26955590 )
2016
35
Reversal of Alopecia Universalis by Tofacitinib: A Case Report. ( 27842401 )
2016
36
Three hundred and eight nanometer excimer light therapy for alopecia universalis that is resistant to other treatments: A clinical study of 11 patients. ( 27130559 )
2016
37
Alopecia universalis in a dog with testicular neoplasia. ( 27644142 )
2016
38
Hirschsprung's disease associated with alopecia universalis congenita: a case report. ( 27633379 )
2016
39
Topical Ruxolitinib for the Treatment of Alopecia Universalis. ( 26649829 )
2016
40
Alopecia universalis as a side effect of pegylated interferon I+-ribavirin combination therapy for hepatitis C: a rare case report. ( 27741937 )
2016
41
Autoimmune Polyglandular Syndrome Type 2 with Alopecia Universalis and Hypoparathyroidism. ( 26591178 )
2015
42
Childhood follicular mucinosis co-existed with alopecia universalis. ( 25958720 )
2015
43
Case of alopecia universalis accompanied by minimal change nephrotic syndrome. ( 26300299 )
2015
44
Alopecia universalis after discontinuation of pegylated interferon and ribavirin combination therapy for hepatitis C: a case report. ( 24558223 )
2014
45
Ruxolitinib-Induced Reversal of Alopecia Universalis in a Patient with Essential Thrombocythemia. ( 25307179 )
2014
46
Killing two birds with one stone: oral tofacitinib reverses alopecia universalis in a patient with plaque psoriasis. ( 24940651 )
2014
47
Alopecia Universalis Successfully Treated With Adalimumab. ( 25322338 )
2014
48
Remission of long-standing alopecia universalis after human immunodeficiency virus infection. ( 24450742 )
2014
49
Biochemical and immunological studies on erythrocytes superoxide dismutase modified by nitric oxide in patients with alopecia areata: Implications in alopecia patchy persistent and alopecia universalis. ( 24694751 )
2014
50
Alopecia universalis, renal stones, and hyperuricemia: a familial or an unfamiliar association. ( 24791244 )
2014

Variations for Alopecia Universalis Congenita

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

76
# 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

ClinVar genetic disease variations for Alopecia Universalis Congenita:

6 (show top 50) (show all 187)
# Gene Variation Type Significance SNP ID Assembly Location
1 HR NM_005144.4(HR): c.3064A> G (p.Thr1022Ala) single nucleotide variant Benign rs7014851 GRCh37 Chromosome 8, 21976710: 21976710
2 HR NM_005144.4(HR): c.3064A> G (p.Thr1022Ala) single nucleotide variant Benign rs7014851 GRCh38 Chromosome 8, 22119197: 22119197
3 HR NM_005144.4(HR): c.3407T> A (p.Val1136Asp) single nucleotide variant Pathogenic rs121434448 GRCh37 Chromosome 8, 21973913: 21973913
4 HR NM_005144.4(HR): c.3407T> A (p.Val1136Asp) single nucleotide variant Pathogenic rs121434448 GRCh38 Chromosome 8, 22116400: 22116400
5 HR HR, IVS12DS, G-A, +1 single nucleotide variant Pathogenic
6 HR NM_005144.4(HR): c.3034G> A (p.Asp1012Asn) single nucleotide variant Pathogenic rs121434451 GRCh37 Chromosome 8, 21976740: 21976740
7 HR NM_005144.4(HR): c.3034G> A (p.Asp1012Asn) single nucleotide variant Pathogenic rs121434451 GRCh38 Chromosome 8, 22119227: 22119227
8 HR NM_005144.4(HR): c.*931T> C single nucleotide variant Likely benign rs76436208 GRCh38 Chromosome 8, 22114769: 22114769
9 HR NM_005144.4(HR): c.*931T> C single nucleotide variant Likely benign rs76436208 GRCh37 Chromosome 8, 21972282: 21972282
10 HR NM_005144.4(HR): c.*751G> C single nucleotide variant Uncertain significance rs777189827 GRCh38 Chromosome 8, 22114949: 22114949
11 HR NM_005144.4(HR): c.*751G> C single nucleotide variant Uncertain significance rs777189827 GRCh37 Chromosome 8, 21972462: 21972462
12 HR NM_005144.4(HR): c.*734G> A single nucleotide variant Uncertain significance rs536800865 GRCh38 Chromosome 8, 22114966: 22114966
13 HR NM_005144.4(HR): c.*734G> A single nucleotide variant Uncertain significance rs536800865 GRCh37 Chromosome 8, 21972479: 21972479
14 HR NM_005144.4(HR): c.*303G> A single nucleotide variant Uncertain significance rs181310087 GRCh38 Chromosome 8, 22115397: 22115397
15 HR NM_005144.4(HR): c.*303G> A single nucleotide variant Uncertain significance rs181310087 GRCh37 Chromosome 8, 21972910: 21972910
16 HR NM_005144.4(HR): c.*240C> A single nucleotide variant Benign rs6994872 GRCh38 Chromosome 8, 22115460: 22115460
17 HR NM_005144.4(HR): c.*240C> A single nucleotide variant Benign rs6994872 GRCh37 Chromosome 8, 21972973: 21972973
18 HR NM_005144.4(HR): c.*218T> C single nucleotide variant Likely benign rs74869265 GRCh38 Chromosome 8, 22115482: 22115482
19 HR NM_005144.4(HR): c.*218T> C single nucleotide variant Likely benign rs74869265 GRCh37 Chromosome 8, 21972995: 21972995
20 HR NM_005144.4(HR): c.*185C> G single nucleotide variant Uncertain significance rs886062804 GRCh38 Chromosome 8, 22115515: 22115515
21 HR NM_005144.4(HR): c.*185C> G single nucleotide variant Uncertain significance rs886062804 GRCh37 Chromosome 8, 21973028: 21973028
22 HR NM_005144.4(HR): c.*180G> A single nucleotide variant Uncertain significance rs564901808 GRCh38 Chromosome 8, 22115520: 22115520
23 HR NM_005144.4(HR): c.*180G> A single nucleotide variant Uncertain significance rs564901808 GRCh37 Chromosome 8, 21973033: 21973033
24 HR NM_005144.4(HR): c.3098-13C> G single nucleotide variant Uncertain significance rs886062806 GRCh37 Chromosome 8, 21976591: 21976591
25 HR NM_005144.4(HR): c.3098-13C> G single nucleotide variant Uncertain significance rs886062806 GRCh38 Chromosome 8, 22119078: 22119078
26 HR NM_005144.4(HR): c.2777-10C> T single nucleotide variant Uncertain significance rs767116700 GRCh37 Chromosome 8, 21977696: 21977696
27 HR NM_005144.4(HR): c.2777-10C> T single nucleotide variant Uncertain significance rs767116700 GRCh38 Chromosome 8, 22120183: 22120183
28 HR NM_005144.4(HR): c.2566C> G (p.Arg856Gly) single nucleotide variant Uncertain significance rs377059643 GRCh37 Chromosome 8, 21978273: 21978273
29 HR NM_005144.4(HR): c.2566C> G (p.Arg856Gly) single nucleotide variant Uncertain significance rs377059643 GRCh38 Chromosome 8, 22120760: 22120760
30 HR NM_005144.4(HR): c.2298G> A (p.Ala766=) single nucleotide variant Uncertain significance rs145225497 GRCh38 Chromosome 8, 22121134: 22121134
31 HR NM_005144.4(HR): c.2298G> A (p.Ala766=) single nucleotide variant Uncertain significance rs145225497 GRCh37 Chromosome 8, 21978647: 21978647
32 HR NM_005144.4(HR): c.2217C> T (p.Ser739=) single nucleotide variant Uncertain significance rs574361484 GRCh38 Chromosome 8, 22121215: 22121215
33 HR NM_005144.4(HR): c.2217C> T (p.Ser739=) single nucleotide variant Uncertain significance rs574361484 GRCh37 Chromosome 8, 21978728: 21978728
34 HR NM_005144.4(HR): c.2212G> A (p.Asp738Asn) single nucleotide variant Uncertain significance rs886062807 GRCh38 Chromosome 8, 22121220: 22121220
35 HR NM_005144.4(HR): c.2212G> A (p.Asp738Asn) single nucleotide variant Uncertain significance rs886062807 GRCh37 Chromosome 8, 21978733: 21978733
36 HR NM_005144.4(HR): c.1907A> G (p.Glu636Gly) single nucleotide variant Uncertain significance rs75362423 GRCh38 Chromosome 8, 22123657: 22123657
37 HR NM_005144.4(HR): c.1907A> G (p.Glu636Gly) single nucleotide variant Uncertain significance rs75362423 GRCh37 Chromosome 8, 21981170: 21981170
38 HR NM_005144.4(HR): c.1858C> G (p.Arg620Gly) single nucleotide variant Uncertain significance rs200843097 GRCh38 Chromosome 8, 22123706: 22123706
39 HR NM_005144.4(HR): c.1858C> G (p.Arg620Gly) single nucleotide variant Uncertain significance rs200843097 GRCh37 Chromosome 8, 21981219: 21981219
40 HR NM_005144.4(HR): c.1360A> G (p.Ile454Val) single nucleotide variant Uncertain significance rs886062809 GRCh37 Chromosome 8, 21984595: 21984595
41 HR NM_005144.4(HR): c.1360A> G (p.Ile454Val) single nucleotide variant Uncertain significance rs886062809 GRCh38 Chromosome 8, 22127082: 22127082
42 HR NM_005144.4(HR): c.1305T> C (p.Phe435=) single nucleotide variant Benign rs12675745 GRCh37 Chromosome 8, 21984650: 21984650
43 HR NM_005144.4(HR): c.1305T> C (p.Phe435=) single nucleotide variant Benign rs12675745 GRCh38 Chromosome 8, 22127137: 22127137
44 HR NM_005144.4(HR): c.1276C> T (p.Pro426Ser) single nucleotide variant Uncertain significance rs151036296 GRCh37 Chromosome 8, 21984679: 21984679
45 HR NM_005144.4(HR): c.1276C> T (p.Pro426Ser) single nucleotide variant Uncertain significance rs151036296 GRCh38 Chromosome 8, 22127166: 22127166
46 HR NM_005144.4(HR): c.188C> G (p.Pro63Arg) single nucleotide variant Likely benign rs73549525 GRCh37 Chromosome 8, 21986496: 21986496
47 HR NM_005144.4(HR): c.188C> G (p.Pro63Arg) single nucleotide variant Likely benign rs73549525 GRCh38 Chromosome 8, 22128983: 22128983
48 HR NM_005144.4(HR): c.120G> A (p.Pro40=) single nucleotide variant Uncertain significance rs757776752 GRCh37 Chromosome 8, 21986564: 21986564
49 HR NM_005144.4(HR): c.120G> A (p.Pro40=) single nucleotide variant Uncertain significance rs757776752 GRCh38 Chromosome 8, 22129051: 22129051
50 HR NM_005144.4(HR): c.-443G> C single nucleotide variant Uncertain significance rs886062812 GRCh38 Chromosome 8, 22130830: 22130830

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

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

# Name GO ID Score Top Affiliating Genes
1 hemopoiesis GO:0030097 9.16 FOXN1 NOTCH4
2 histone H3-K9 demethylation GO:0033169 8.96 HR KDM5A
3 thymus epithelium morphogenesis GO:0097536 8.62 AIRE FOXN1

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

# Name GO ID Score Top Affiliating Genes
1 histone binding GO:0042393 9.16 AIRE KDM5A
2 chromatin DNA binding GO:0031490 8.96 HR KDM5A
3 histone demethylase activity (H3-K9 specific) GO:0032454 8.62 HR KDM5A

Sources for Alopecia Universalis Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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38 KEGG
39 LifeMap
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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