U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hepatic calcification

MedGen UID:
490154
Concept ID:
C1696466
Disease or Syndrome
Synonym: Liver calcifications
 
HPO: HP:0006559

Definition

The presence of abnormal calcium deposition in the liver. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHepatic calcification

Conditions with this feature

Carnitine palmitoyl transferase II deficiency, neonatal form
MedGen UID:
318896
Concept ID:
C1833518
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
Greenberg dysplasia
MedGen UID:
418969
Concept ID:
C2931048
Disease or Syndrome
Greenberg dysplasia (GRBGD), also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia.

Professional guidelines

PubMed

Bronshtein M, Blazer S
Obstet Gynecol 1995 Nov;86(5):739-43. doi: 10.1016/0029-7844(95)00278-Y. PMID: 7566840

Recent clinical studies

Etiology

Saikia N, Talukdar R, Singal DK, Chaudhary D, Bhullar SS, Tandon RK
Indian J Gastroenterol 2007 Mar-Apr;26(2):90-2. PMID: 17558076
Wang Y, He T, Wen X, Li T, Waili A, Zhang W, Xu X, Vuitton DA, Rogan MT, Wen H, Craig PS
Acta Trop 2006 Apr;98(1):43-51. doi: 10.1016/j.actatropica.2006.01.009. PMID: 16676417
Arda K, Ozdemirel D, Tosun, Olçer T
JBR-BTR 2000 Oct;83(5):231-3. PMID: 11201536
Mannhardt W, Schumacher R
Pediatr Radiol 1991;21(3):236-7. doi: 10.1007/BF02011060. PMID: 2047171
Dupuy D, Costello P, Lewis D, Jenkins R
AJR Am J Roentgenol 1991 Jun;156(6):1167-70. doi: 10.2214/ajr.156.6.2028860. PMID: 2028860

Diagnosis

Di Caprio A, Rossi C, Bertucci E, Bedetti L, Bertoncelli N, Miselli F, Corso L, Bondi C, Iughetti L, Berardi A, Lugli L
Eur J Med Genet 2024 Feb;67:104906. Epub 2023 Dec 22 doi: 10.1016/j.ejmg.2023.104906. PMID: 38143025
Patnana M, Menias CO, Pickhardt PJ, Elshikh M, Javadi S, Gaballah A, Shaaban AM, Korivi BR, Garg N, Elsayes KM
AJR Am J Roentgenol 2018 Jul;211(1):76-86. Epub 2018 Apr 18 doi: 10.2214/AJR.18.19704. PMID: 29667888
Paley MR, Ros PR
Radiol Clin North Am 1998 Mar;36(2):391-8. doi: 10.1016/s0033-8389(05)70030-0. PMID: 9520990
Bronshtein M, Blazer S
Obstet Gynecol 1995 Nov;86(5):739-43. doi: 10.1016/0029-7844(95)00278-Y. PMID: 7566840
Hawass ND, el Badawi MG, Fatani JA, al-Meshari A, Makanjoula D, Edress YB
Pediatr Radiol 1990;20(7):528-35. doi: 10.1007/BF02011383. PMID: 2216588

Therapy

Li P, Hidaka M, Huang Y, Hara T, Nagakawa K, Matsushima H, Tanaka T, Adachi T, Soyama A, Gu W, Kanetaka K, Eguchi S
Clin J Gastroenterol 2021 Oct;14(5):1491-1495. Epub 2021 Aug 22 doi: 10.1007/s12328-021-01471-x. PMID: 34423381Free PMC Article
Wang Y, He T, Wen X, Li T, Waili A, Zhang W, Xu X, Vuitton DA, Rogan MT, Wen H, Craig PS
Acta Trop 2006 Apr;98(1):43-51. doi: 10.1016/j.actatropica.2006.01.009. PMID: 16676417
Caksen H, Patiroğlu T, Erol M, Poyrazoğlu MH
Acta Paediatr Taiwan 2004 Jul-Aug;45(4):249-52. PMID: 15624376
Sugiura H, Yoshida K, Nakanuma Y, Ohta G, Izumino K, Takazakura H
Am J Gastroenterol 1987 Aug;82(8):786-9. PMID: 3605041
Edell S
J Am Osteopath Assoc 1975 Nov;75(3):330-3. PMID: 1041742

Prognosis

Saikia N, Talukdar R, Singal DK, Chaudhary D, Bhullar SS, Tandon RK
Indian J Gastroenterol 2007 Mar-Apr;26(2):90-2. PMID: 17558076
Wang Y, He T, Wen X, Li T, Waili A, Zhang W, Xu X, Vuitton DA, Rogan MT, Wen H, Craig PS
Acta Trop 2006 Apr;98(1):43-51. doi: 10.1016/j.actatropica.2006.01.009. PMID: 16676417
Arda K, Ozdemirel D, Tosun, Olçer T
JBR-BTR 2000 Oct;83(5):231-3. PMID: 11201536
Bronshtein M, Blazer S
Obstet Gynecol 1995 Nov;86(5):739-43. doi: 10.1016/0029-7844(95)00278-Y. PMID: 7566840
Taylor WG, Walkinshaw SA, Thomson MA
Arch Dis Child 1993 May;68(5 Spec No):604-5. doi: 10.1136/adc.68.5_spec_no.604. PMID: 8323367Free PMC Article

Clinical prediction guides

Caksen H, Patiroğlu T, Erol M, Poyrazoğlu MH
Acta Paediatr Taiwan 2004 Jul-Aug;45(4):249-52. PMID: 15624376
Arda K, Ozdemirel D, Tosun, Olçer T
JBR-BTR 2000 Oct;83(5):231-3. PMID: 11201536
Taylor WG, Walkinshaw SA, Thomson MA
Arch Dis Child 1993 May;68(5 Spec No):604-5. doi: 10.1136/adc.68.5_spec_no.604. PMID: 8323367Free PMC Article
Chalhub EG, Baenziger J, Feigen RD, Middlekamp JN, Shackelford GD
Dev Med Child Neurol 1977 Aug;19(4):527-34. doi: 10.1111/j.1469-8749.1977.tb07950.x. PMID: 892252

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...