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Abnormality of alkaline phosphatase level

MedGen UID:
892397
Concept ID:
C4025328
Finding
Synonyms: Abnormality of alkaline phosphatase activity; Abnormality of ALP level; Alkaline phosphatase abnormal
 
HPO: HP:0004379

Definition

An abnormality of alkaline phosphatase level. [from HPO]

Conditions with this feature

Renal cysts and diabetes syndrome
MedGen UID:
96569
Concept ID:
C0431693
Disease or Syndrome
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).
Trichorhinophalangeal dysplasia type I
MedGen UID:
140929
Concept ID:
C0432233
Disease or Syndrome
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability.
X-linked spondyloepimetaphyseal dysplasia
MedGen UID:
376281
Concept ID:
C1848097
Disease or Syndrome
A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses.
Glycosylphosphatidylinositol biosynthesis defect 17
MedGen UID:
1648437
Concept ID:
C4747891
Disease or Syndrome
Glycosylphosphatidylinositol biosynthesis defect-17 (GPIBD17) is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
MedGen UID:
1788511
Concept ID:
C5543496
Disease or Syndrome
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, and hypoplastic terminal phalanges and nails. Patients have seizures or tonic posturing. The disorder is associated with a defect in GPI anchoring of membrane-bound proteins (summary by Salian et al., 2021). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). See also DOORS syndrome (220500), which shows some overlapping clinical features.
Muscular dystrophy, limb-girdle, autosomal recessive 28
MedGen UID:
1841154
Concept ID:
C5830518
Disease or Syndrome
Autosomal recessive limb-girdle muscular dystrophy-28 (LGMDR28) is characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs. The age at onset is highly variable, usually in the first decade, although onset in the fourth decade has also been reported. The disorder can be rapidly progressive or show a slower course. Most patients have limited ambulation or become wheelchair-bound within a few decades, and respiratory insufficiency commonly occurs. Laboratory studies show increased serum creatine kinase and elevated fasting blood glucose levels, although cholesterol is normal. EMG shows a myopathic pattern; muscle biopsy is generally unremarkable, but can show nonspecific myopathic or dystrophic features (Yogev et al., 2023; Morales-Rosado et al., 2023). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).

Professional guidelines

PubMed

Tornai D, Ven PL, Lakatos PL, Papp M
World J Gastroenterol 2022 Jun 7;28(21):2291-2301. doi: 10.3748/wjg.v28.i21.2291. PMID: 35800183Free PMC Article
Kaya A, Kaya SY
BMC Gastroenterol 2020 Nov 12;20(1):379. doi: 10.1186/s12876-020-01496-5. PMID: 33183229Free PMC Article
Kwo PY, Cohen SM, Lim JK
Am J Gastroenterol 2017 Jan;112(1):18-35. Epub 2016 Dec 20 doi: 10.1038/ajg.2016.517. PMID: 27995906

Recent clinical studies

Etiology

Tabibi MA, Wilund KR, Salimian N, Nikbakht S, Soleymany M, Roshanaeian Z, Nazemi F, Ahmadi S
BMC Nephrol 2023 Sep 20;24(1):276. doi: 10.1186/s12882-023-03327-7. PMID: 37730530Free PMC Article
Shajani-Yi Z, Ayala-Lopez N, Black M, Dahir KM
Bone 2022 Oct;163:116504. Epub 2022 Jul 22 doi: 10.1016/j.bone.2022.116504. PMID: 35878747
Smith A, Baumgartner K, Cooper J, St Louis J
FP Essent 2021 Dec;511:11-22. PMID: 34855337
Wat WZ, Cheung WS, Lau TW
Hong Kong Med J 2013 Jun;19(3):242-8. Epub 2013 Apr 3 doi: 10.12809/hkmj133661. PMID: 23568934
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Diagnosis

Riancho JA
Calcif Tissue Int 2023 Mar;112(3):289-296. Epub 2022 Nov 8 doi: 10.1007/s00223-022-01039-y. PMID: 36348061
Mifsud S, Mifsud EL, Agius SM, Mula A, Gruppetta M
Br J Hosp Med (Lond) 2022 Jun 2;83(6):1-7. Epub 2022 Jun 20 doi: 10.12968/hmed.2021.0624. PMID: 35787163
Kwo PY, Cohen SM, Lim JK
Am J Gastroenterol 2017 Jan;112(1):18-35. Epub 2016 Dec 20 doi: 10.1038/ajg.2016.517. PMID: 27995906
Giannini EG, Testa R, Savarino V
CMAJ 2005 Feb 1;172(3):367-79. doi: 10.1503/cmaj.1040752. PMID: 15684121Free PMC Article
ROONEY JC
Calif Med 1949 Sep;71(3):211-3. PMID: 18137218Free PMC Article

Therapy

Mifsud S, Mifsud EL, Agius SM, Mula A, Gruppetta M
Br J Hosp Med (Lond) 2022 Jun 2;83(6):1-7. Epub 2022 Jun 20 doi: 10.12968/hmed.2021.0624. PMID: 35787163
Ferreira AC, Mendes M, Silva C, Cotovio P, Aires I, Navarro D, Caeiro F, Ramos R, Salvador R, Correia B, Cabral G, Nolasco F, Ferreira A
Transplantation 2022 May 1;106(5):e251-e261. Epub 2022 Mar 8 doi: 10.1097/TP.0000000000004099. PMID: 35266925Free PMC Article
Ferraz-de-Souza B, Correa PH
Arq Bras Endocrinol Metabol 2013 Nov;57(8):577-82. doi: 10.1590/s0004-27302013000800001. PMID: 24343625
Abboud G, Kaplowitz N
Drug Saf 2007;30(4):277-94. doi: 10.2165/00002018-200730040-00001. PMID: 17408305
Black DM, Schwartz AV, Ensrud KE, Cauley JA, Levis S, Quandt SA, Satterfield S, Wallace RB, Bauer DC, Palermo L, Wehren LE, Lombardi A, Santora AC, Cummings SR; FLEX Research Group
JAMA 2006 Dec 27;296(24):2927-38. doi: 10.1001/jama.296.24.2927. PMID: 17190893

Prognosis

Cormier C
Joint Bone Spine 2019 Jul;86(4):459-466. Epub 2018 Oct 6 doi: 10.1016/j.jbspin.2018.10.001. PMID: 30300686
Abboud G, Kaplowitz N
Drug Saf 2007;30(4):277-94. doi: 10.2165/00002018-200730040-00001. PMID: 17408305
Black DM, Schwartz AV, Ensrud KE, Cauley JA, Levis S, Quandt SA, Satterfield S, Wallace RB, Bauer DC, Palermo L, Wehren LE, Lombardi A, Santora AC, Cummings SR; FLEX Research Group
JAMA 2006 Dec 27;296(24):2927-38. doi: 10.1001/jama.296.24.2927. PMID: 17190893
Woods SE, Hitchcock M, Meyer A
Am Fam Physician 1993 Apr;47(5):1171-8. PMID: 8465712
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Med Clin North Am 1989 Jul;73(4):911-29. doi: 10.1016/s0025-7125(16)30645-9. PMID: 2657267

Clinical prediction guides

Rafaqat S, Sattar A, Khalid A, Rafaqat S
Endocr Regul 2023 Jan 1;57(1):200-220. Epub 2023 Sep 16 doi: 10.2478/enr-2023-0024. PMID: 37715985
Zhang H, Xiang G, Li J, He S, Wang Y, Deng A, Wang Y, Guo C
Chin Med J (Engl) 2023 Jun 20;136(12):1468-1477. Epub 2023 May 16 doi: 10.1097/CM9.0000000000002690. PMID: 37192015Free PMC Article
Tornai D, Ven PL, Lakatos PL, Papp M
World J Gastroenterol 2022 Jun 7;28(21):2291-2301. doi: 10.3748/wjg.v28.i21.2291. PMID: 35800183Free PMC Article
Abboud G, Kaplowitz N
Drug Saf 2007;30(4):277-94. doi: 10.2165/00002018-200730040-00001. PMID: 17408305
Janssens AM, Offner FC, Van Hove WZ
Cancer 2000 Apr 15;88(8):1769-80. PMID: 10760751

Recent systematic reviews

Kaspiris A, Vasiliadis E, Iliopoulos ID, Panagopoulos F, Melissaridou D, Lianou I, Ntourantonis D, Savvidou OD, Papadimitriou E, Pneumaticos SG
Bone 2024 Mar;180:116992. Epub 2023 Dec 21 doi: 10.1016/j.bone.2023.116992. PMID: 38141750
Vilaca T, Velmurugan N, Smith C, Abrahamsen B, Eastell R
J Bone Miner Res 2022 Jun;37(6):1188-1199. Epub 2022 May 7 doi: 10.1002/jbmr.4558. PMID: 35426179Free PMC Article
Malik A, Nadeem M, Malik MI
Clin J Gastroenterol 2021 Dec;14(6):1579-1586. Epub 2021 Aug 9 doi: 10.1007/s12328-021-01491-7. PMID: 34370218
Mousavi SM, Jayedi A, Bagheri A, Zargarzadeh N, Wong A, Persad E, Akhgarjand C, Koohdani F
Phytother Res 2021 Oct;35(10):5634-5646. Epub 2021 Jul 1 doi: 10.1002/ptr.7200. PMID: 34212447
Fruchtenicht AV, Poziomyck AK, Kabke GB, Loss SH, Antoniazzi JL, Steemburgo T, Moreira LF
Rev Bras Ter Intensiva 2015 Jul-Sep;27(3):274-83. Epub 2015 Aug 11 doi: 10.5935/0103-507X.20150032. PMID: 26270855Free PMC Article

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