Details of Disease

General Information of Disease (ID: DISCNJPF)

Disease Name Alopecia totalis
Synonyms total alopecia areata; alopecia totalis
Definition Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.
Disease Hierarchy
DIS37HU4: Alopecia
DISCNJPF: Alopecia totalis
Disease Identifiers
MONDO ID
MONDO_0019080
UMLS CUI
C0263504
MedGen ID
75525
HPO ID
HP:0007418
Orphanet ID
700
SNOMED CT ID
19754005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNJ4 TTXF0ZW Strong Genetic Variation [1]
NFKB2 TTKLNRV Strong Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HIRA OTON40EJ Strong Genetic Variation [1]
NUDT15 OTX8SZOT Strong Genetic Variation [3]
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References

1 Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.J Invest Dermatol. 2001 Dec;117(6):1662-5. doi: 10.1046/j.0022-202x.2001.01618.x.
2 Central Diabetes Insipidus in a Patient With NFKB2 Mutation: Expanding the Endocrine Phenotype in DAVID Syndrome.J Clin Endocrinol Metab. 2019 Sep 1;104(9):4051-4057. doi: 10.1210/jc.2019-00469.
3 NUDT15 variant is the most common variant associated with thiopurine-induced early leukopenia and alopecia in Korean pediatric patients with Crohn's disease.Eur J Gastroenterol Hepatol. 2016 Apr;28(4):475-8. doi: 10.1097/MEG.0000000000000564.