U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Antimitochondrial antibody positivity

MedGen UID:
866704
Concept ID:
C4021051
Finding
Synonym: Serum antimitochrondrial antibodies
 
HPO: HP:0030167

Definition

The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAntimitochondrial antibody positivity

Conditions with this feature

Reynolds syndrome
MedGen UID:
450547
Concept ID:
C0748397
Disease or Syndrome
An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive.
Immunodeficiency 25
MedGen UID:
346666
Concept ID:
C1857798
Disease or Syndrome
Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.
Autoinflammatory disease, systemic, with vasculitis
MedGen UID:
1841161
Concept ID:
C5830525
Disease or Syndrome
Systemic autoinflammatory disease with vasculitis (SAIDV) is an autosomal dominant disorder that manifests soon after birth with features such as purpuric skin rash, fever, hepatosplenomegaly, and elevated C-reactive protein (CRP; 123260). Laboratory studies may show leukocytosis, thrombocytopenia, and autoantibodies. A subset of patients develop progressive liver involvement that may result in fibrosis. Other systemic features, such as periorbital edema, conjunctivitis, infections, abdominal pain, and arthralgia are usually observed. Mutations occur de novo. De Jesus et al. (2023) referred to this disorder as LAVLI (LYN kinase-associated vasculopathy and liver fibrosis).

Professional guidelines

PubMed

Murillo Perez CF, Goet JC, Lammers WJ, Gulamhusein A, van Buuren HR, Ponsioen CY, Carbone M, Mason A, Corpechot C, Invernizzi P, Mayo MJ, Battezzati PM, Floreani A, Pares A, Nevens F, Kowdley KV, Bruns T, Dalekos GN, Thorburn D, Hirschfield G, LaRusso NF, Lindor KD, Zachou K, Poupon R, Trivedi PJ, Verhelst X, Janssen HLA, Hansen BE; GLOBAL PBC Study Group
Hepatology 2018 May;67(5):1920-1930. Epub 2018 Apr 6 doi: 10.1002/hep.29717. PMID: 29220537
Williamson JM, Chalmers DM, Clayden AD, Dixon MF, Ruddell WS, Losowsky MS
J Clin Pathol 1985 Sep;38(9):1007-12. doi: 10.1136/jcp.38.9.1007. PMID: 2413079Free PMC Article

Recent clinical studies

Etiology

Murillo Perez CF, Goet JC, Lammers WJ, Gulamhusein A, van Buuren HR, Ponsioen CY, Carbone M, Mason A, Corpechot C, Invernizzi P, Mayo MJ, Battezzati PM, Floreani A, Pares A, Nevens F, Kowdley KV, Bruns T, Dalekos GN, Thorburn D, Hirschfield G, LaRusso NF, Lindor KD, Zachou K, Poupon R, Trivedi PJ, Verhelst X, Janssen HLA, Hansen BE; GLOBAL PBC Study Group
Hepatology 2018 May;67(5):1920-1930. Epub 2018 Apr 6 doi: 10.1002/hep.29717. PMID: 29220537
Levy C, Naik J, Giordano C, Mandalia A, O'Brien C, Bhamidimarri KR, Schiff ER, Martin P
Clin Gastroenterol Hepatol 2014 Aug;12(8):1398-405. Epub 2013 Dec 17 doi: 10.1016/j.cgh.2013.12.010. PMID: 24361417
Híndi M, Levy C, Couto CA, Bejarano P, Mendes F
J Clin Gastroenterol 2013 Mar;47(3):e28-32. doi: 10.1097/MCG.0b013e318261e659. PMID: 23059407
Kitami N, Ishii H, Shimizu H, Adachi H, Komada T, Mikami H, Yokoi Y, Sato N
J Gastroenterol Hepatol 1994 Jan-Feb;9(1):7-12. doi: 10.1111/j.1440-1746.1994.tb01208.x. PMID: 8155871
Williamson JM, Chalmers DM, Clayden AD, Dixon MF, Ruddell WS, Losowsky MS
J Clin Pathol 1985 Sep;38(9):1007-12. doi: 10.1136/jcp.38.9.1007. PMID: 2413079Free PMC Article

Diagnosis

Liang Y, Khandakar B, Hao Y, Xiong Y, Liu BL, Zhang X
Ann Diagn Pathol 2023 Dec;67:152178. Epub 2023 Jul 12 doi: 10.1016/j.anndiagpath.2023.152178. PMID: 37468373
Murillo Perez CF, Goet JC, Lammers WJ, Gulamhusein A, van Buuren HR, Ponsioen CY, Carbone M, Mason A, Corpechot C, Invernizzi P, Mayo MJ, Battezzati PM, Floreani A, Pares A, Nevens F, Kowdley KV, Bruns T, Dalekos GN, Thorburn D, Hirschfield G, LaRusso NF, Lindor KD, Zachou K, Poupon R, Trivedi PJ, Verhelst X, Janssen HLA, Hansen BE; GLOBAL PBC Study Group
Hepatology 2018 May;67(5):1920-1930. Epub 2018 Apr 6 doi: 10.1002/hep.29717. PMID: 29220537
Floreani A, Motta R, Cazzagon N, Franceschet I, Roncalli M, Del Ross T, Rosina F, Lleo A, Mescoli C, Colloredo G, Invernizzi P
Dig Liver Dis 2015 May;47(5):432-5. Epub 2015 Feb 11 doi: 10.1016/j.dld.2015.02.002. PMID: 25747115
Híndi M, Levy C, Couto CA, Bejarano P, Mendes F
J Clin Gastroenterol 2013 Mar;47(3):e28-32. doi: 10.1097/MCG.0b013e318261e659. PMID: 23059407
Williamson JM, Chalmers DM, Clayden AD, Dixon MF, Ruddell WS, Losowsky MS
J Clin Pathol 1985 Sep;38(9):1007-12. doi: 10.1136/jcp.38.9.1007. PMID: 2413079Free PMC Article

Therapy

Liang Y, Khandakar B, Hao Y, Xiong Y, Liu BL, Zhang X
Ann Diagn Pathol 2023 Dec;67:152178. Epub 2023 Jul 12 doi: 10.1016/j.anndiagpath.2023.152178. PMID: 37468373
Murillo Perez CF, Goet JC, Lammers WJ, Gulamhusein A, van Buuren HR, Ponsioen CY, Carbone M, Mason A, Corpechot C, Invernizzi P, Mayo MJ, Battezzati PM, Floreani A, Pares A, Nevens F, Kowdley KV, Bruns T, Dalekos GN, Thorburn D, Hirschfield G, LaRusso NF, Lindor KD, Zachou K, Poupon R, Trivedi PJ, Verhelst X, Janssen HLA, Hansen BE; GLOBAL PBC Study Group
Hepatology 2018 May;67(5):1920-1930. Epub 2018 Apr 6 doi: 10.1002/hep.29717. PMID: 29220537
Floreani A, Motta R, Cazzagon N, Franceschet I, Roncalli M, Del Ross T, Rosina F, Lleo A, Mescoli C, Colloredo G, Invernizzi P
Dig Liver Dis 2015 May;47(5):432-5. Epub 2015 Feb 11 doi: 10.1016/j.dld.2015.02.002. PMID: 25747115
Levy C, Naik J, Giordano C, Mandalia A, O'Brien C, Bhamidimarri KR, Schiff ER, Martin P
Clin Gastroenterol Hepatol 2014 Aug;12(8):1398-405. Epub 2013 Dec 17 doi: 10.1016/j.cgh.2013.12.010. PMID: 24361417

Prognosis

Liang Y, Khandakar B, Hao Y, Xiong Y, Liu BL, Zhang X
Ann Diagn Pathol 2023 Dec;67:152178. Epub 2023 Jul 12 doi: 10.1016/j.anndiagpath.2023.152178. PMID: 37468373
Murillo Perez CF, Goet JC, Lammers WJ, Gulamhusein A, van Buuren HR, Ponsioen CY, Carbone M, Mason A, Corpechot C, Invernizzi P, Mayo MJ, Battezzati PM, Floreani A, Pares A, Nevens F, Kowdley KV, Bruns T, Dalekos GN, Thorburn D, Hirschfield G, LaRusso NF, Lindor KD, Zachou K, Poupon R, Trivedi PJ, Verhelst X, Janssen HLA, Hansen BE; GLOBAL PBC Study Group
Hepatology 2018 May;67(5):1920-1930. Epub 2018 Apr 6 doi: 10.1002/hep.29717. PMID: 29220537
Floreani A, Motta R, Cazzagon N, Franceschet I, Roncalli M, Del Ross T, Rosina F, Lleo A, Mescoli C, Colloredo G, Invernizzi P
Dig Liver Dis 2015 May;47(5):432-5. Epub 2015 Feb 11 doi: 10.1016/j.dld.2015.02.002. PMID: 25747115
Híndi M, Levy C, Couto CA, Bejarano P, Mendes F
J Clin Gastroenterol 2013 Mar;47(3):e28-32. doi: 10.1097/MCG.0b013e318261e659. PMID: 23059407
Myers RP, Shaheen AA, Fong A, Wan AF, Swain MG, Hilsden RJ, Sutherland L, Quan H
Can J Gastroenterol 2010 Mar;24(3):175-82. doi: 10.1155/2010/237860. PMID: 20352146Free PMC Article

Clinical prediction guides

Liang Y, Khandakar B, Hao Y, Xiong Y, Liu BL, Zhang X
Ann Diagn Pathol 2023 Dec;67:152178. Epub 2023 Jul 12 doi: 10.1016/j.anndiagpath.2023.152178. PMID: 37468373
Murillo Perez CF, Goet JC, Lammers WJ, Gulamhusein A, van Buuren HR, Ponsioen CY, Carbone M, Mason A, Corpechot C, Invernizzi P, Mayo MJ, Battezzati PM, Floreani A, Pares A, Nevens F, Kowdley KV, Bruns T, Dalekos GN, Thorburn D, Hirschfield G, LaRusso NF, Lindor KD, Zachou K, Poupon R, Trivedi PJ, Verhelst X, Janssen HLA, Hansen BE; GLOBAL PBC Study Group
Hepatology 2018 May;67(5):1920-1930. Epub 2018 Apr 6 doi: 10.1002/hep.29717. PMID: 29220537
Híndi M, Levy C, Couto CA, Bejarano P, Mendes F
J Clin Gastroenterol 2013 Mar;47(3):e28-32. doi: 10.1097/MCG.0b013e318261e659. PMID: 23059407
Myers RP, Shaheen AA, Fong A, Wan AF, Swain MG, Hilsden RJ, Sutherland L, Quan H
Can J Gastroenterol 2010 Mar;24(3):175-82. doi: 10.1155/2010/237860. PMID: 20352146Free PMC Article
Williamson JM, Chalmers DM, Clayden AD, Dixon MF, Ruddell WS, Losowsky MS
J Clin Pathol 1985 Sep;38(9):1007-12. doi: 10.1136/jcp.38.9.1007. PMID: 2413079Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...