MCID: ALP097
MIFTS: 48

Alopecia Universalis Congenita

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 75 29 6 40
Alopecia Universalis 57 12 76 53 59 75 37 13 6 15 73
Alunc 57 75
Alopecia Areata Universalis 53
Atrichia, Generalized 57
Atrichia Generalized 75
Au 53

Characteristics:

Orphanet epidemiological data:

59
alopecia universalis
Prevalence: 1-5/10000 (Europe);

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
alopecia universalis congenita:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 203655
Disease Ontology 12 DOID:0050634
Orphanet 59 ORPHA701
MESH via Orphanet 45 C537055
UMLS via Orphanet 74 C0263505
ICD10 via Orphanet 34 L63.1
MedGen 42 C1859877
MeSH 44 D000505
KEGG 37 H01158
ICD10 33 L63.1
UMLS 73 C0263505

Summaries for Alopecia Universalis Congenita

NIH Rare Diseases : 53 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 Methylprednisolone and Prednisolone 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

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 81)
# Related Disease Score Top Affiliating Genes
1 nail disorder, nonsyndromic congenital, 1 28.8 AIRE MBTPS2
2 alopecia 28.2 AIRE FOXN1 HR MBTPS2
3 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.3
4 alopecia universalis onychodystrophy vitiligo 12.3
5 autosomal dominant café au lait spots 12.2
6 au-kline syndrome 12.2
7 cafe-au-lait spots, multiple 12.2
8 legius syndrome 11.9
9 congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome 11.9
10 watson syndrome 11.8
11 neurofibromatosis, type i 11.5
12 hypotrichosis 7 11.4
13 neurofibromatosis, type iv, of riccardi 11.4
14 mccune-albright syndrome 11.4
15 fibrous dysplasia 11.1
16 phacomatosis pigmentovascularis 11.1
17 ring chromosome 15 11.1
18 mismatch repair cancer syndrome 11.0
19 gastrocutaneous syndrome 11.0
20 hyperpigmentation with or without hypopigmentation, familial progressive 11.0
21 neurofibromatosis-noonan syndrome 11.0
22 fibromatosis multiple non ossifying 10.9
23 neurofibromatosis, familial spinal 10.8
24 nijmegen breakage syndrome 10.8
25 odonto onycho dysplasia with alopecia 10.8
26 pinheiro freire-maia miranda syndrome 10.8
27 alopecia areata 10.6
28 aging 10.1
29 laryngomalacia 10.0
30 gonadal dysgenesis 10.0
31 neurofibroma 9.9
32 breast cancer 9.9
33 lentigines 9.9
34 noonan syndrome 1 9.9
35 cholera 9.9
36 mongolian spot 9.9
37 pseudo-turner syndrome 9.9
38 basal cell carcinoma 1 9.8
39 hepatitis c virus 9.8
40 diabetes mellitus 9.8
41 hepatitis 9.8
42 gestational diabetes 9.8
43 hepatitis c 9.8
44 basal cell carcinoma 9.8
45 juvenile xanthogranuloma 9.8
46 thyroiditis 9.8
47 neuronitis 9.8
48 herpes simplex 9.8
49 alzheimer disease 9.6
50 leukemia, chronic lymphocytic 2 9.6

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



Diseases related to Alopecia Universalis Congenita

Symptoms & Phenotypes for Alopecia Universalis Congenita

Symptoms via clinical synopsis from OMIM:

57
Hair:
alopecia universalis

Lab:
no hair in hair follicles on skin biopsy


Clinical features from OMIM:

203655

Human phenotypes related to Alopecia Universalis Congenita:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absent eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000561
2 absent eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002223
3 alopecia areata 59 32 hallmark (90%) Very frequent (99-80%) HP:0002229
4 alopecia universalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002289
5 alopecia 32 HP:0001596
6 abnormality of metabolism/homeostasis 32 HP:0001939

MGI Mouse Phenotypes related to Alopecia Universalis Congenita:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 AIRE FOXN1 HR KDM5A

Drugs & Therapeutics for Alopecia Universalis Congenita

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

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

Interventional clinical trials:

(show all 18)
# 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 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
3 Phase II Randomized Bilateral Comparison of Topical Targretin Gel 1% in Alopecia Areata Completed NCT00063076 Phase 2, Phase 3 Targretin Gel 1%
4 Tofacitnib for the Treatment of Alopecia Areata and Variants Completed NCT02197455 Phase 2 Tofacitinib Administration
5 Open Label Study of ATI-50002 Topical Solution Administered to Adult Subjects With Eyebrow Loss Due to Alopecia Areata Recruiting NCT03551821 Phase 2 ATI-50002
6 A Pilot Study of Tralokinumab in Subjects With Moderate to Severe Alopecia Areata Recruiting NCT02684097 Phase 2 Tralokinumab;Placebo
7 Treatment of Alopecia Areata (AA) With Dupilumab in Patients With and Without Atopic Dermatitis (AD) Recruiting NCT03359356 Phase 2 Dupilumab;Placebos
8 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
9 Topical Tofacitinib for the Treatment of Alopecia Areata and Its Variants Active, not recruiting NCT02812342 Phase 2 Tofacitinib ointment
10 Phase 2 Trial of BNZ-1 in Patients With Moderate to Severe Alopecia Areata Not yet recruiting NCT03532958 Phase 2 BNZ-1;Normal saline
11 A Study of Secukinumab for the Treatment of Alopecia Areata Terminated NCT02599129 Phase 2 Secukinumab;Placebo
12 A Study With INCB018424 Phosphate Cream Applied Topically to Subjects With Alopecia Areata (AA) Terminated NCT02553330 Phase 2 Placebo Cream;INCB018424 Phosphate Cream
13 Efalizumab in the Treatment of Alopecia, Phase II Withdrawn NCT00746980 Phase 2 efalizumab
14 Abatacept Costimulatory Blockade in the Treatment of Alopecia Totalis/Universalis Withdrawn NCT01314495 Phase 2 Abatacept;Inactive infusion
15 Tofacitinib for the Treatment of Alopecia Areata and Its Variants Completed NCT02312882 Not Applicable Tofacitinib
16 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
17 Alopecia Areata Registry Active, not recruiting NCT00069589
18 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 29 HR

Anatomical Context for Alopecia Universalis Congenita

MalaCards organs/tissues related to Alopecia Universalis Congenita:

41
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 148)
# Title Authors Year
1
Topical 2% tofacitinib for children with alopecia areata, alopecia totalis, and alopecia universalis. ( 29754888 )
2018
2
Risk of sun-induced skin cancers in patients with alopecia areata, alopecia totalis and alopecia universalis. ( 29679494 )
2018
3
Multi-Concentration Level Patch Test Guided Diphenyl Cyclopropenone (DPCP) Treatment in Alopecia Totalis or Alopecia Universalis. ( 29911776 )
2017
4
Rare Presentation of Alopecia Universalis Congenita and Twenty-nail Dystrophy in Siblings. ( 28839389 )
2017
5
Review of treatment for alopecia totalis and alopecia universalis. ( 28378336 )
2017
6
Experience with oral tofacitinib in 8 adolescent patients with alopecia universalis. ( 28325392 )
2017
7
Excellent response to tofacitinib treatment in a patient with alopecia universalis. ( 28632888 )
2017
8
Treatment of alopecia universalis with oral alitretinoin: A case report. ( 28349112 )
2017
9
Pyridostigmine-Induced Bradycardia in Patient With MuSK-Ab-Positive Myasthenia Gravis and Alopecia Universalis. ( 28827491 )
2017
10
Image Gallery: Treatment of refractory alopecia universalis with oral tofacitinib citrate and adjunct intralesional triamcinolone injections. ( 28581223 )
2017
11
Brazilian Experience of the Treatment of Alopecia Universalis with the Novel Antirheumatic Therapy Tofacitinib: A Case Series. ( 28755063 )
2017
12
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
13
Recovery of hair in the psoriatic plaques of a patient with coexistent alopecia universalis. ( 28492603 )
2017
14
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
15
Successful hair regrowth in a Korean patient with alopecia universalis following tofacitinib treatment. ( 28536724 )
2017
16
Efficacy of tofacitinib in treatment of alopecia universalis in two patients. ( 27306107 )
2016
17
Tofacitinib Citrate for the Treatment of Nail Dystrophy Associated With Alopecia Universalis. ( 26630079 )
2016
18
Alopecia universalis in a patient with Sheehan's syndrome. ( 26955590 )
2016
19
Reversal of Alopecia Universalis by Tofacitinib: A Case Report. ( 27842401 )
2016
20
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
21
Alopecia universalis in a dog with testicular neoplasia. ( 27644142 )
2016
22
Hirschsprung's disease associated with alopecia universalis congenita: a case report. ( 27633379 )
2016
23
Topical Ruxolitinib for the Treatment of Alopecia Universalis. ( 26649829 )
2016
24
Alopecia universalis as a side effect of pegylated interferon I+-ribavirin combination therapy for hepatitis C: a rare case report. ( 27741937 )
2016
25
Autoimmune Polyglandular Syndrome Type 2 with Alopecia Universalis and Hypoparathyroidism. ( 26591178 )
2015
26
Childhood follicular mucinosis co-existed with alopecia universalis. ( 25958720 )
2015
27
Case of alopecia universalis accompanied by minimal change nephrotic syndrome. ( 26300299 )
2015
28
Alopecia universalis after discontinuation of pegylated interferon and ribavirin combination therapy for hepatitis C: a case report. ( 24558223 )
2014
29
Ruxolitinib-Induced Reversal of Alopecia Universalis in a Patient with Essential Thrombocythemia. ( 25307179 )
2014
30
Killing two birds with one stone: oral tofacitinib reverses alopecia universalis in a patient with plaque psoriasis. ( 24940651 )
2014
31
Alopecia Universalis Successfully Treated With Adalimumab. ( 25322338 )
2014
32
Remission of long-standing alopecia universalis after human immunodeficiency virus infection. ( 24450742 )
2014
33
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
34
Alopecia universalis, renal stones, and hyperuricemia: a familial or an unfamiliar association. ( 24791244 )
2014
35
Alopecia universalis during treatment with leflunomide and adalimumab - case report. ( 24770511 )
2014
36
Sequential development of psoriasis, alopecia universalis, and vitiligo vulgaris in a human immunodeficiency virus seropositive patient: A unique case report. ( 26396459 )
2014
37
Alopecia Universalis Associated with Vitiligo in an 18-year-old HIV-positive Patient: Highly Active Anti-retroviral Therapy as First Choice Therapy? ( 23824261 )
2014
38
Alopecia universalis associated with cutaneous T cell lymphoma. ( 24821490 )
2014
39
Satoyoshi syndrome: a cause of alopecia universalis in association with neurologic and bony abnormalities. ( 22612551 )
2013
40
A case of hypogonadism presented with alopecia universalis. ( 25207137 )
2013
41
Diphenylcyclopropenone-induced vitiligo in a patient with alopecia universalis. ( 24019775 )
2013
42
Alopecia universalis in polyglandular autoimmune syndrome type I. ( 24574702 )
2013
43
Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis. ( 23326468 )
2013
44
Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings. ( 23254735 )
2013
45
Autoimmune polyglandular syndrome type 2, alopecia universalis and Crohn's disease. ( 22677116 )
2013
46
Clinical characteristics and prognostic factors in early-onset alopecia totalis and alopecia universalis. ( 22787378 )
2012
47
A case of alopecia universalis with agminated lentiginosis and multiple cafAc-au-lait macules: a synchronous coincidence? ( 22182389 )
2012
48
Irreversible alopecia universalis during treatment with pegylated interferon-ribavirin for chronic hepatitis C virus infection: Case report and published work review. ( 23181541 )
2012
49
A mouse model of clonal CD8+ T lymphocyte-mediated alopecia areata progressing to alopecia universalis. ( 22116824 )
2012
50
Alopecia universalis following two sequential traffic accidents: possible association with increased Th1 and Th17 cells and decreased Th2 cells. ( 22259836 )
2011

Variations for Alopecia Universalis Congenita

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

75
# 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 183)
# Gene Variation Type Significance SNP ID Assembly Location
1 HR NM_005144.4(HR): c.3407T> A (p.Val1136Asp) single nucleotide variant Pathogenic rs121434448 GRCh37 Chromosome 8, 21973913: 21973913
2 HR NM_005144.4(HR): c.3407T> A (p.Val1136Asp) single nucleotide variant Pathogenic rs121434448 GRCh38 Chromosome 8, 22116400: 22116400
3 HR HR, IVS12DS, G-A, +1 single nucleotide variant Pathogenic
4 HR NM_005144.4(HR): c.3034G> A (p.Asp1012Asn) single nucleotide variant Pathogenic rs121434451 GRCh37 Chromosome 8, 21976740: 21976740
5 HR NM_005144.4(HR): c.3034G> A (p.Asp1012Asn) single nucleotide variant Pathogenic rs121434451 GRCh38 Chromosome 8, 22119227: 22119227
6 HR NM_005144.4(HR): c.*931T> C single nucleotide variant Likely benign rs76436208 GRCh37 Chromosome 8, 21972282: 21972282
7 HR NM_005144.4(HR): c.*931T> C single nucleotide variant Likely benign rs76436208 GRCh38 Chromosome 8, 22114769: 22114769
8 HR NM_005144.4(HR): c.*751G> C single nucleotide variant Uncertain significance rs777189827 GRCh37 Chromosome 8, 21972462: 21972462
9 HR NM_005144.4(HR): c.*751G> C single nucleotide variant Uncertain significance rs777189827 GRCh38 Chromosome 8, 22114949: 22114949
10 HR NM_005144.4(HR): c.*734G> A single nucleotide variant Uncertain significance rs536800865 GRCh37 Chromosome 8, 21972479: 21972479
11 HR NM_005144.4(HR): c.*734G> A single nucleotide variant Uncertain significance rs536800865 GRCh38 Chromosome 8, 22114966: 22114966
12 HR NM_005144.4(HR): c.*303G> A single nucleotide variant Uncertain significance rs181310087 GRCh37 Chromosome 8, 21972910: 21972910
13 HR NM_005144.4(HR): c.*303G> A single nucleotide variant Uncertain significance rs181310087 GRCh38 Chromosome 8, 22115397: 22115397
14 HR NM_005144.4(HR): c.*240C> A single nucleotide variant Benign rs6994872 GRCh37 Chromosome 8, 21972973: 21972973
15 HR NM_005144.4(HR): c.*240C> A single nucleotide variant Benign rs6994872 GRCh38 Chromosome 8, 22115460: 22115460
16 HR NM_005144.4(HR): c.*218T> C single nucleotide variant Likely benign rs74869265 GRCh37 Chromosome 8, 21972995: 21972995
17 HR NM_005144.4(HR): c.*218T> C single nucleotide variant Likely benign rs74869265 GRCh38 Chromosome 8, 22115482: 22115482
18 HR NM_005144.4(HR): c.*185C> G single nucleotide variant Uncertain significance rs886062804 GRCh37 Chromosome 8, 21973028: 21973028
19 HR NM_005144.4(HR): c.*185C> G single nucleotide variant Uncertain significance rs886062804 GRCh38 Chromosome 8, 22115515: 22115515
20 HR NM_005144.4(HR): c.*180G> A single nucleotide variant Uncertain significance rs564901808 GRCh37 Chromosome 8, 21973033: 21973033
21 HR NM_005144.4(HR): c.*180G> A single nucleotide variant Uncertain significance rs564901808 GRCh38 Chromosome 8, 22115520: 22115520
22 HR NM_005144.4(HR): c.3098-13C> G single nucleotide variant Uncertain significance rs886062806 GRCh37 Chromosome 8, 21976591: 21976591
23 HR NM_005144.4(HR): c.3098-13C> G single nucleotide variant Uncertain significance rs886062806 GRCh38 Chromosome 8, 22119078: 22119078
24 HR NM_005144.4(HR): c.2777-10C> T single nucleotide variant Uncertain significance rs767116700 GRCh37 Chromosome 8, 21977696: 21977696
25 HR NM_005144.4(HR): c.2777-10C> T single nucleotide variant Uncertain significance rs767116700 GRCh38 Chromosome 8, 22120183: 22120183
26 HR NM_005144.4(HR): c.2566C> G (p.Arg856Gly) single nucleotide variant Uncertain significance rs377059643 GRCh37 Chromosome 8, 21978273: 21978273
27 HR NM_005144.4(HR): c.2566C> G (p.Arg856Gly) single nucleotide variant Uncertain significance rs377059643 GRCh38 Chromosome 8, 22120760: 22120760
28 HR NM_005144.4(HR): c.2298G> A (p.Ala766=) single nucleotide variant Uncertain significance rs145225497 GRCh38 Chromosome 8, 22121134: 22121134
29 HR NM_005144.4(HR): c.2298G> A (p.Ala766=) single nucleotide variant Uncertain significance rs145225497 GRCh37 Chromosome 8, 21978647: 21978647
30 HR NM_005144.4(HR): c.2217C> T (p.Ser739=) single nucleotide variant Uncertain significance rs574361484 GRCh38 Chromosome 8, 22121215: 22121215
31 HR NM_005144.4(HR): c.2217C> T (p.Ser739=) single nucleotide variant Uncertain significance rs574361484 GRCh37 Chromosome 8, 21978728: 21978728
32 HR NM_005144.4(HR): c.2212G> A (p.Asp738Asn) single nucleotide variant Uncertain significance rs886062807 GRCh38 Chromosome 8, 22121220: 22121220
33 HR NM_005144.4(HR): c.2212G> A (p.Asp738Asn) single nucleotide variant Uncertain significance rs886062807 GRCh37 Chromosome 8, 21978733: 21978733
34 HR NM_005144.4(HR): c.1907A> G (p.Glu636Gly) single nucleotide variant Uncertain significance rs75362423 GRCh37 Chromosome 8, 21981170: 21981170
35 HR NM_005144.4(HR): c.1907A> G (p.Glu636Gly) single nucleotide variant Uncertain significance rs75362423 GRCh38 Chromosome 8, 22123657: 22123657
36 HR NM_005144.4(HR): c.1858C> G (p.Arg620Gly) single nucleotide variant Uncertain significance rs200843097 GRCh37 Chromosome 8, 21981219: 21981219
37 HR NM_005144.4(HR): c.1858C> G (p.Arg620Gly) single nucleotide variant Uncertain significance rs200843097 GRCh38 Chromosome 8, 22123706: 22123706
38 HR NM_005144.4(HR): c.1360A> G (p.Ile454Val) single nucleotide variant Uncertain significance rs886062809 GRCh37 Chromosome 8, 21984595: 21984595
39 HR NM_005144.4(HR): c.1360A> G (p.Ile454Val) single nucleotide variant Uncertain significance rs886062809 GRCh38 Chromosome 8, 22127082: 22127082
40 HR NM_005144.4(HR): c.1305T> C (p.Phe435=) single nucleotide variant Benign rs12675745 GRCh37 Chromosome 8, 21984650: 21984650
41 HR NM_005144.4(HR): c.1305T> C (p.Phe435=) single nucleotide variant Benign rs12675745 GRCh38 Chromosome 8, 22127137: 22127137
42 HR NM_005144.4(HR): c.1276C> T (p.Pro426Ser) single nucleotide variant Uncertain significance rs151036296 GRCh37 Chromosome 8, 21984679: 21984679
43 HR NM_005144.4(HR): c.1276C> T (p.Pro426Ser) single nucleotide variant Uncertain significance rs151036296 GRCh38 Chromosome 8, 22127166: 22127166
44 HR NM_005144.4(HR): c.188C> G (p.Pro63Arg) single nucleotide variant Likely benign rs73549525 GRCh37 Chromosome 8, 21986496: 21986496
45 HR NM_005144.4(HR): c.188C> G (p.Pro63Arg) single nucleotide variant Likely benign rs73549525 GRCh38 Chromosome 8, 22128983: 22128983
46 HR NM_005144.4(HR): c.120G> A (p.Pro40=) single nucleotide variant Uncertain significance rs757776752 GRCh37 Chromosome 8, 21986564: 21986564
47 HR NM_005144.4(HR): c.120G> A (p.Pro40=) single nucleotide variant Uncertain significance rs757776752 GRCh38 Chromosome 8, 22129051: 22129051
48 HR NM_005144.4(HR): c.-443G> C single nucleotide variant Uncertain significance rs886062812 GRCh38 Chromosome 8, 22130830: 22130830
49 HR NM_005144.4(HR): c.-443G> C single nucleotide variant Uncertain significance rs886062812 GRCh37 Chromosome 8, 21988343: 21988343
50 HR NM_005144.4(HR): c.-568_-567insCCGCCGCGCTCTCCGCCGCGCTCT insertion Uncertain significance rs568964531 GRCh38 Chromosome 8, 22130954: 22130955

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 histone H3-K9 demethylation GO:0033169 8.96 HR KDM5A
2 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 chromatin DNA binding GO:0031490 8.96 HR KDM5A
2 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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