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Autoimmune disease, susceptibility to, 1(AIS1; VAMAS2)

MedGen UID:
335848
Concept ID:
C1842979
Finding
Synonyms: Autoimmune disease 1; AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED; VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 2
 
Gene (location): FOXD3 (1p31.3)
 
Monarch Initiative: MONDO:0011919
OMIM®: 607836

Definition

Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene. [from MONDO]

Clinical features

From HPO
Hashimoto thyroiditis
MedGen UID:
151769
Concept ID:
C0677607
Disease or Syndrome
Hashimoto's disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. Hashimoto's disease is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones.\n\nOne of the first signs of Hashimoto's disease is an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. As damage to the thyroid continues, the gland can shrink over a period of years and the goiter may eventually disappear.\n\nOther signs and symptoms resulting from an underactive thyroid can include excessive tiredness (fatigue), weight gain or difficulty losing weight, hair that is thin and dry, a slow heart rate, joint or muscle pain, and constipation. People with Hashimoto's disease may also have a pale, puffy face and feel cold even when others around them are warm. Affected women can have heavy or irregular menstrual periods and difficulty conceiving a child (impaired fertility). Difficulty concentrating and depression can also be signs of a shortage of thyroid hormones.\n\nHashimoto's disease usually appears in mid-adulthood, although it can occur earlier or later in life. Its signs and symptoms tend to develop gradually over months or years.
Vitiligo
MedGen UID:
22677
Concept ID:
C0042900
Disease or Syndrome
Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.

Professional guidelines

PubMed

Demirci Yildirim T, Sari İ
Rheumatol Int 2024 Nov;44(11):2301-2313. Epub 2023 Oct 27 doi: 10.1007/s00296-023-05491-3. PMID: 37889264
Machado MV
Int J Mol Sci 2023 Jan 4;24(2) doi: 10.3390/ijms24020945. PMID: 36674460Free PMC Article
Klubo-Gwiezdzinska J, Wartofsky L
Pol Arch Intern Med 2022 Mar 30;132(3) Epub 2022 Mar 3 doi: 10.20452/pamw.16222. PMID: 35243857Free PMC Article

Recent clinical studies

Etiology

Yazar S, Alquicira-Hernandez J, Wing K, Senabouth A, Gordon MG, Andersen S, Lu Q, Rowson A, Taylor TRP, Clarke L, Maccora K, Chen C, Cook AL, Ye CJ, Fairfax KA, Hewitt AW, Powell JE
Science 2022 Apr 8;376(6589):eabf3041. doi: 10.1126/science.abf3041. PMID: 35389779
Vrbensky JR, Nazy I, Clare R, Larché M, Arnold DM
Eur J Haematol 2022 Jan;108(1):18-27. Epub 2021 Sep 29 doi: 10.1111/ejh.13705. PMID: 34487584
Garbarino S, Lanteri P, Bragazzi NL, Magnavita N, Scoditti E
Commun Biol 2021 Nov 18;4(1):1304. doi: 10.1038/s42003-021-02825-4. PMID: 34795404Free PMC Article
Orrù V, Steri M, Sidore C, Marongiu M, Serra V, Olla S, Sole G, Lai S, Dei M, Mulas A, Virdis F, Piras MG, Lobina M, Marongiu M, Pitzalis M, Deidda F, Loizedda A, Onano S, Zoledziewska M, Sawcer S, Devoto M, Gorospe M, Abecasis GR, Floris M, Pala M, Schlessinger D, Fiorillo E, Cucca F
Nat Genet 2020 Oct;52(10):1036-1045. Epub 2020 Sep 14 doi: 10.1038/s41588-020-0684-4. PMID: 32929287Free PMC Article
Wilson WA, Faghiri Z, Taheri F, Gharavi AE
Lupus 1998;7 Suppl 2:S110-3. doi: 10.1177/096120339800700225. PMID: 9814686

Diagnosis

Clauw D, Sarzi-Puttini P, Pellegrino G, Shoenfeld Y
Autoimmun Rev 2024 Jan;23(1):103424. Epub 2023 Aug 25 doi: 10.1016/j.autrev.2023.103424. PMID: 37634681
Vrbensky JR, Nazy I, Clare R, Larché M, Arnold DM
Eur J Haematol 2022 Jan;108(1):18-27. Epub 2021 Sep 29 doi: 10.1111/ejh.13705. PMID: 34487584
Primavera M, Giannini C, Chiarelli F
Front Endocrinol (Lausanne) 2020;11:248. Epub 2020 Jun 2 doi: 10.3389/fendo.2020.00248. PMID: 32670194Free PMC Article
Rubartelli A
Immunol Lett 2014 Oct;161(2):226-30. Epub 2014 Jan 19 doi: 10.1016/j.imlet.2013.12.013. PMID: 24452074
van Belle TL, Coppieters KT, von Herrath MG
Physiol Rev 2011 Jan;91(1):79-118. doi: 10.1152/physrev.00003.2010. PMID: 21248163

Therapy

Yazar S, Alquicira-Hernandez J, Wing K, Senabouth A, Gordon MG, Andersen S, Lu Q, Rowson A, Taylor TRP, Clarke L, Maccora K, Chen C, Cook AL, Ye CJ, Fairfax KA, Hewitt AW, Powell JE
Science 2022 Apr 8;376(6589):eabf3041. doi: 10.1126/science.abf3041. PMID: 35389779
Fallahi P, Di Domenicantonio A, Mazzi V, Santini F, Fabiani S, Sebastiani M, Zignego AL, Ferri C, Antonelli A
Clin Ter 2013;164(5):e437-44. doi: 10.7417/CT.2013.1624. PMID: 24217846
van Belle TL, Coppieters KT, von Herrath MG
Physiol Rev 2011 Jan;91(1):79-118. doi: 10.1152/physrev.00003.2010. PMID: 21248163
Grateau G, Duruöz MT
Best Pract Res Clin Rheumatol 2010 Jun;24(3):401-11. doi: 10.1016/j.berh.2009.12.009. PMID: 20534373
Atkinson MA, Eisenbarth GS
Lancet 2001 Jul 21;358(9277):221-9. doi: 10.1016/S0140-6736(01)05415-0. PMID: 11476858

Prognosis

Zajec A, Trebušak Podkrajšek K, Tesovnik T, Šket R, Čugalj Kern B, Jenko Bizjan B, Šmigoc Schweiger D, Battelino T, Kovač J
Genes (Basel) 2022 Apr 16;13(4) doi: 10.3390/genes13040706. PMID: 35456512Free PMC Article
Bubuioc AM, Kudebayeva A, Turuspekova S, Lisnic V, Leone MA
J Med Life 2021 Jan-Mar;14(1):7-16. doi: 10.25122/jml-2020-0145. PMID: 33767779Free PMC Article
Primavera M, Giannini C, Chiarelli F
Front Endocrinol (Lausanne) 2020;11:248. Epub 2020 Jun 2 doi: 10.3389/fendo.2020.00248. PMID: 32670194Free PMC Article
Sunnapwar A, Prasad SR, Menias CO, Shanbhogue AK, Katre R, Raut A
AJR Am J Roentgenol 2010 Jul;195(1):67-75. doi: 10.2214/AJR.09.4048. PMID: 20566798
Atkinson MA, Eisenbarth GS
Lancet 2001 Jul 21;358(9277):221-9. doi: 10.1016/S0140-6736(01)05415-0. PMID: 11476858

Clinical prediction guides

Chen L, Wu B, Mo L, Chen H, Zhao Y, Tan T, Chen L, Li Y, Yao P, Tang Y
Lancet Healthy Longev 2024 Jan;5(1):e45-e55. Epub 2023 Dec 8 doi: 10.1016/S2666-7568(23)00220-9. PMID: 38081205
Frazzei G, van Vollenhoven RF, de Jong BA, Siegelaar SE, van Schaardenburg D
Front Immunol 2022;13:899372. Epub 2022 Jun 30 doi: 10.3389/fimmu.2022.899372. PMID: 35844538Free PMC Article
Zajec A, Trebušak Podkrajšek K, Tesovnik T, Šket R, Čugalj Kern B, Jenko Bizjan B, Šmigoc Schweiger D, Battelino T, Kovač J
Genes (Basel) 2022 Apr 16;13(4) doi: 10.3390/genes13040706. PMID: 35456512Free PMC Article
Fernández Miró M, Colom Comí C, Godoy Lorenzo R
Med Clin (Barc) 2021 Sep 10;157(5):241-246. Epub 2021 May 3 doi: 10.1016/j.medcli.2021.02.004. PMID: 33958142
Primavera M, Giannini C, Chiarelli F
Front Endocrinol (Lausanne) 2020;11:248. Epub 2020 Jun 2 doi: 10.3389/fendo.2020.00248. PMID: 32670194Free PMC Article

Recent systematic reviews

Wimalawansa SJ
Nutrients 2023 Sep 2;15(17) doi: 10.3390/nu15173842. PMID: 37686873Free PMC Article
Liu YR, Wang JQ, Li J
Front Immunol 2023;14:1137822. Epub 2023 Mar 27 doi: 10.3389/fimmu.2023.1137822. PMID: 37051231Free PMC Article
Esimekara JO, Perez A, Courvoisier DS, Scolozzi P
J Stomatol Oral Maxillofac Surg 2022 Oct;123(5):e464-e473. Epub 2022 Jan 13 doi: 10.1016/j.jormas.2022.01.005. PMID: 35033725
de Filette JMK, Pen JJ, Decoster L, Vissers T, Bravenboer B, Van der Auwera BJ, Gorus FK, Roep BO, Aspeslagh S, Neyns B, Velkeniers B, Kharagjitsingh AV
Eur J Endocrinol 2019 Sep;181(3):363-374. doi: 10.1530/EJE-19-0291. PMID: 31330498Free PMC Article
Derry S, Wiffen PJ, Kalso EA, Bell RF, Aldington D, Phillips T, Gaskell H, Moore RA
Cochrane Database Syst Rev 2017 May 12;5(5):CD008609. doi: 10.1002/14651858.CD008609.pub2. PMID: 28497473Free PMC Article

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