Format

Send to:

Choose Destination

Links from PubMed

Desmosterolosis

MedGen UID:
400801
Concept ID:
C1865596
Disease or Syndrome
Synonyms: DESMOSTEROLOSIS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Desmosterolosis (709490002)
 
Gene (location): DHCR24 (1p32.3)
OMIM®: 602398
Orphanet: ORPHA35107

Definition

Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Waterham et al., 2001). [from OMIM]

Additional description

From GHR
Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms.Children with desmosterolosis have delayed speech and motor skills (such as sitting and walking). Later in childhood, some affected individuals are able to walk with support; verbal communication is often limited to a few words or phrases. Common brain abnormalities in desmosterolosis include malformation of the tissue that connects the left and right halves of the brain (the corpus callosum) and loss of white matter, which consists of nerve fibers covered by a fatty substance called myelin.People with desmosterolosis commonly have muscle stiffness (spasticity) and stiff, rigid joints (arthrogryposis) affecting their hands and feet. Other features seen in some affected individuals include short stature, abnormal head size (either larger or smaller than normal), a small lower jaw (micrognathia), an opening in the roof of the mouth (cleft palate), involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus), heart defects, and seizures.  https://ghr.nlm.nih.gov/condition/desmosterolosis

Clinical features

Arthrogryposis multiplex congenita
MedGen UID:
2455
Concept ID:
C0003886
Finding
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Partial agenesis of corpus callosum
MedGen UID:
98127
Concept ID:
C0431368
Congenital Abnormality
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Relative macrocephaly
MedGen UID:
338607
Concept ID:
C1849075
Congenital Abnormality
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDesmosterolosis
Follow this link to review classifications for Desmosterolosis in Orphanet.

Recent clinical studies

Etiology

Zerenturk EJ, Sharpe LJ, Ikonen E, Brown AJ
Prog Lipid Res 2013 Oct;52(4):666-80. Epub 2013 Oct 2 doi: 10.1016/j.plipres.2013.09.002. PMID: 24095826
Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M
Am J Med Genet A 2011 Jul;155A(7):1597-604. Epub 2011 Jun 10 doi: 10.1002/ajmg.a.34040. PMID: 21671375Free PMC Article
Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS
Eur J Hum Genet 2011 Sep;19(9):942-6. Epub 2011 May 11 doi: 10.1038/ejhg.2011.74. PMID: 21559050Free PMC Article
Andersson HC, Kratz L, Kelley R
Am J Med Genet 2002 Dec 15;113(4):315-9. doi: 10.1002/ajmg.b.10873. PMID: 12457401
Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ
Am J Hum Genet 2001 Oct;69(4):685-94. Epub 2001 Aug 22 doi: 10.1086/323473. PMID: 11519011Free PMC Article

Diagnosis

Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC
Pediatr Radiol 2015 Jul;45(7):965-76. Epub 2015 Feb 3 doi: 10.1007/s00247-014-3257-9. PMID: 25646736
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B
Eur J Med Genet 2014 Sep;57(9):536-42. Epub 2014 Jul 12 doi: 10.1016/j.ejmg.2014.07.001. PMID: 25019372
Jira P
Handb Clin Neurol 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. PMID: 23622407
Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M
Am J Med Genet A 2011 Jul;155A(7):1597-604. Epub 2011 Jun 10 doi: 10.1002/ajmg.a.34040. PMID: 21671375Free PMC Article
Valdez CM, Phelix CF, Smith MA, Perry G, Santamaria F
Mol Biosyst 2011 Jun;7(6):1891-901. Epub 2011 Mar 30 doi: 10.1039/c0mb00282h. PMID: 21451815Free PMC Article

Therapy

Horvat S, McWhir J, Rozman D
Drug Metab Rev 2011 Feb;43(1):69-90. doi: 10.3109/03602532.2010.540580. PMID: 21247357

Prognosis

Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B
Eur J Med Genet 2014 Sep;57(9):536-42. Epub 2014 Jul 12 doi: 10.1016/j.ejmg.2014.07.001. PMID: 25019372
Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009
Valdez CM, Phelix CF, Smith MA, Perry G, Santamaria F
Mol Biosyst 2011 Jun;7(6):1891-901. Epub 2011 Mar 30 doi: 10.1039/c0mb00282h. PMID: 21451815Free PMC Article
Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G
Am J Med Genet A 2005 Jan 15;132A(2):144-51. doi: 10.1002/ajmg.a.30426. PMID: 15580635

Clinical prediction guides

Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC
Pediatr Radiol 2015 Jul;45(7):965-76. Epub 2015 Feb 3 doi: 10.1007/s00247-014-3257-9. PMID: 25646736
Goyal S, Xiao Y, Porter NA, Xu L, Guengerich FP
J Lipid Res 2014 Sep;55(9):1933-43. Epub 2014 Jul 13 doi: 10.1194/jlr.M051508. PMID: 25017465Free PMC Article
Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS
Eur J Hum Genet 2011 Sep;19(9):942-6. Epub 2011 May 11 doi: 10.1038/ejhg.2011.74. PMID: 21559050Free PMC Article
Valdez CM, Phelix CF, Smith MA, Perry G, Santamaria F
Mol Biosyst 2011 Jun;7(6):1891-901. Epub 2011 Mar 30 doi: 10.1039/c0mb00282h. PMID: 21451815Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center