U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Reduced leukocyte alpha-mannosidase activity

MedGen UID:
1050558
Concept ID:
CN375661
Finding
HPO: HP:4000190

Definition

Concentration or activity of an alpha-mannosidase as measured in leukocytes is below the limits of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced leukocyte alpha-mannosidase activity

Conditions with this feature

Deficiency of alpha-mannosidase
MedGen UID:
7467
Concept ID:
C0024748
Disease or Syndrome
Alpha-mannosidosis encompasses a continuum of clinical findings from mild to severe. Three major clinical subtypes have been suggested: A mild form recognized after age ten years with absence of skeletal abnormalities, myopathy, and slow progression (type 1). A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression (type 2). A severe form manifested as prenatal loss or early death from progressive central nervous system involvement or infection (type 3). Individuals with a milder phenotype have mild-to-moderate intellectual disability, impaired hearing, characteristic coarse features, clinical or radiographic skeletal abnormalities, immunodeficiency, and primary central nervous system disease – mainly cerebellar involvement causing ataxia. Periods of psychiatric symptoms are common. Associated medical problems can include corneal opacities, hepatosplenomegaly, aseptic destructive arthritis, and metabolic myopathy. Alpha-mannosidosis is insidiously progressive; some individuals may live into the sixth decade.

Professional guidelines

PubMed

Gruner S, Diezel W, Zwirner A, Müller GM, Von Baehr R, Sönnichsen N
Br J Dermatol 1987 Jun;116(6):785-92. doi: 10.1111/j.1365-2133.1987.tb04896.x. PMID: 3040068

Recent clinical studies

Etiology

Erlichman N, Meshel T, Baram T, Abu Raiya A, Horvitz T, Ben-Yaakov H, Ben-Baruch A
Cells 2023 Sep 23;12(19) doi: 10.3390/cells12192338. PMID: 37830552Free PMC Article

Diagnosis

Bennet JK, Dembure PP, Elsas LJ
Am J Med Genet 1995 Jan 2;55(1):21-6. doi: 10.1002/ajmg.1320550108. PMID: 7702090
Prence EM, Natowicz MR
Clin Chem 1992 Apr;38(4):501-3. PMID: 1568314
Steadman R, Petersen MM, Topley N, Williams D, Matthews N, Spur B, Williams JD
J Immunol 1990 Apr 1;144(7):2712-8. PMID: 2156933

Clinical prediction guides

Xiang ZG, Jiang DD, Liu Y, Zhang LF, Zhu LP
Transgenic Res 2010 Feb;19(1):67-75. Epub 2009 Jul 2 doi: 10.1007/s11248-009-9299-3. PMID: 19572206
Morgan R, Gao G, Pawling J, Dennis JW, Demetriou M, Li B
J Immunol 2004 Dec 15;173(12):7200-8. doi: 10.4049/jimmunol.173.12.7200. PMID: 15585841
Cooper A, Hatton C, Thornley M, Sardharwalla IB
J Inherit Metab Dis 1988;11(1):17-29. doi: 10.1007/BF01800054. PMID: 3128685

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...