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Elevated serum acid phosphatase

MedGen UID:
326597
Concept ID:
C1839866
Finding
Synonym: Acid phosphatase elevated
 
HPO: HP:0003148

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated serum acid phosphatase

Conditions with this feature

Lowe syndrome
MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.
Hyperphosphatasemia with bone disease
MedGen UID:
75678
Concept ID:
C0268414
Disease or Syndrome
Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014). For discussion of genetic heterogeneity of Paget disease of bone, see 167250.
Osteopetrosis with renal tubular acidosis
MedGen UID:
91042
Concept ID:
C0345407
Disease or Syndrome
Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.\n\nOther features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).
Gaucher disease due to saposin C deficiency
MedGen UID:
350479
Concept ID:
C1864651
Disease or Syndrome
Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.
Autosomal dominant osteopetrosis 2
MedGen UID:
465707
Concept ID:
C3179239
Disease or Syndrome
The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related autosomal recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII; Albers-Schönberg disease). ARO. Onset is at birth. Findings may include: fractures; reduced growth; sclerosis of the skull base (with or without choanal stenosis or hydrocephalus) resulting in optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental abnormalities, odontomas, and risk for mandibular osteomyelitis; and hypocalcemia with tetanic seizures and secondary hyperparathyroidism. Without treatment maximal life span in ARO is ten years. IAO. Onset is in childhood. Findings may include: fractures after minor trauma, characteristic skeletal radiographic changes found incidentally, mild anemia, and occasional visual impairment secondary to optic nerve compression. Life expectancy in IAO is usually normal. ADOII. Onset is usually late childhood or adolescence. Findings may include: fractures (in any long bone and/or the posterior arch of a vertebra), scoliosis, hip osteoarthritis, and osteomyelitis of the mandible or septic osteitis or osteoarthritis elsewhere. Cranial nerve compression is rare.

Professional guidelines

PubMed

Kagan AR, Steckel RJ
Med Pediatr Oncol 1993;21(5):327-32. doi: 10.1002/mpo.2950210504. PMID: 7684112
Chodak GW, Schoenberg HW
JAMA 1984 Dec 21;252(23):3261-4. PMID: 6512929

Recent clinical studies

Etiology

Kagan AR, Steckel RJ
Med Pediatr Oncol 1993;21(5):327-32. doi: 10.1002/mpo.2950210504. PMID: 7684112
Manni A, Bartholomew M, Caplan R, Boucher A, Santen R, Lipton A, Harvey H, Simmonds M, White-Hershey D, Gordon R
J Clin Oncol 1988 Sep;6(9):1456-66. doi: 10.1200/JCO.1988.6.9.1456. PMID: 3047336
Bostwick DG, Mann RB
Cancer 1985 Dec 15;56(12):2932-8. doi: 10.1002/1097-0142(19851215)56:12<2932::aid-cncr2820561234>3.0.co;2-h. PMID: 3840406
Vihko P, Jokipalo A, Tenhunen R, Alfthan O, Oravisto KJ
Scand J Urol Nephrol 1982;16(2):105-8. doi: 10.3109/00365598209179737. PMID: 7123159
Lieberman J
Ann N Y Acad Sci 1976;278:488-97. doi: 10.1111/j.1749-6632.1976.tb47061.x. PMID: 183594

Diagnosis

Kagan AR, Steckel RJ
Med Pediatr Oncol 1993;21(5):327-32. doi: 10.1002/mpo.2950210504. PMID: 7684112
Manni A, Bartholomew M, Caplan R, Boucher A, Santen R, Lipton A, Harvey H, Simmonds M, White-Hershey D, Gordon R
J Clin Oncol 1988 Sep;6(9):1456-66. doi: 10.1200/JCO.1988.6.9.1456. PMID: 3047336
Khan RM, Cromie WJ, Edson M
Urology 1976 Jul;8(1):43-5. doi: 10.1016/0090-4295(76)90051-0. PMID: 941359
Lieberman J
Ann N Y Acad Sci 1976;278:488-97. doi: 10.1111/j.1749-6632.1976.tb47061.x. PMID: 183594
TYSON MC, GROSSMAN WI, TUCHMAN LR
Am J Med 1964 Jul;37:156-8. doi: 10.1016/0002-9343(64)90220-7. PMID: 14181144

Therapy

Roach M 3rd, Krall J, Keller JW, Perez CA, Sause WT, Doggett RL, Rotman M, Russ H, Pilepich MV, Asbell SO
Int J Radiat Oncol Biol Phys 1992;24(3):441-9. doi: 10.1016/0360-3016(92)91058-u. PMID: 1399729
Manni A, Bartholomew M, Caplan R, Boucher A, Santen R, Lipton A, Harvey H, Simmonds M, White-Hershey D, Gordon R
J Clin Oncol 1988 Sep;6(9):1456-66. doi: 10.1200/JCO.1988.6.9.1456. PMID: 3047336
Bostwick DG, Mann RB
Cancer 1985 Dec 15;56(12):2932-8. doi: 10.1002/1097-0142(19851215)56:12<2932::aid-cncr2820561234>3.0.co;2-h. PMID: 3840406
Brenckman WD Jr, Lastinger LB, Sedor F
JAMA 1981 Jun 26;245(24):2501-4. PMID: 7230488
Lieberman J
Ann N Y Acad Sci 1976;278:488-97. doi: 10.1111/j.1749-6632.1976.tb47061.x. PMID: 183594

Prognosis

Kagan AR, Steckel RJ
Med Pediatr Oncol 1993;21(5):327-32. doi: 10.1002/mpo.2950210504. PMID: 7684112
Roach M 3rd, Krall J, Keller JW, Perez CA, Sause WT, Doggett RL, Rotman M, Russ H, Pilepich MV, Asbell SO
Int J Radiat Oncol Biol Phys 1992;24(3):441-9. doi: 10.1016/0360-3016(92)91058-u. PMID: 1399729
Manni A, Bartholomew M, Caplan R, Boucher A, Santen R, Lipton A, Harvey H, Simmonds M, White-Hershey D, Gordon R
J Clin Oncol 1988 Sep;6(9):1456-66. doi: 10.1200/JCO.1988.6.9.1456. PMID: 3047336
Bostwick DG, Mann RB
Cancer 1985 Dec 15;56(12):2932-8. doi: 10.1002/1097-0142(19851215)56:12<2932::aid-cncr2820561234>3.0.co;2-h. PMID: 3840406
Leibel SA, Hanks GE, Kramer S
Int J Radiat Oncol Biol Phys 1984 Mar;10(3):401-9. doi: 10.1016/0360-3016(84)90061-0. PMID: 6706734

Clinical prediction guides

Waaler G, Nilssen MO
Urol Int 1994;53(3):130-4. doi: 10.1159/000282653. PMID: 7645138
Roach M 3rd, Krall J, Keller JW, Perez CA, Sause WT, Doggett RL, Rotman M, Russ H, Pilepich MV, Asbell SO
Int J Radiat Oncol Biol Phys 1992;24(3):441-9. doi: 10.1016/0360-3016(92)91058-u. PMID: 1399729
Manni A, Bartholomew M, Caplan R, Boucher A, Santen R, Lipton A, Harvey H, Simmonds M, White-Hershey D, Gordon R
J Clin Oncol 1988 Sep;6(9):1456-66. doi: 10.1200/JCO.1988.6.9.1456. PMID: 3047336
Vihko P, Jokipalo A, Tenhunen R, Alfthan O, Oravisto KJ
Scand J Urol Nephrol 1982;16(2):105-8. doi: 10.3109/00365598209179737. PMID: 7123159
Brenckman WD Jr, Lastinger LB, Sedor F
JAMA 1981 Jun 26;245(24):2501-4. PMID: 7230488

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