MCID: DSM002
MIFTS: 32

Desmosterolosis malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Desmosterolosis

About this section

Aliases & Descriptions for Desmosterolosis:

Name: Desmosterolosis 49 11 45 22 23 47 51 67 24 65
Deficiency of 3beta-Hydroxysterol Delta24-Reductase 23
 
Desmos 67

Characteristics:

Orphanet epidemiological data:

51
desmosterolosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal; Age of death: any age,stillbirth

HPO:

61
desmosterolosis:
Onset and clinical course: phenotypic variability
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 602398
Orphanet51 35107
ICD10 via Orphanet28 Q87.8
MedGen34 C1865596
UMLS65 C1865596

Summaries for Desmosterolosis

About this section
OMIM:49 Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated... (602398) more...

MalaCards based summary: Desmosterolosis, also known as deficiency of 3beta-hydroxysterol delta24-reductase, is related to osteoblastoma and greenberg skeletal dysplasia, and has symptoms including cognitive impairment, aplasia/hypoplasia of the corpus callosum and short stature. An important gene associated with Desmosterolosis is DHCR24 (24-Dehydrocholesterol Reductase). Affiliated tissues include brain, bone and skin.

UniProtKB/Swiss-Prot:67 Desmosterolosis: Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.

Genetics Home Reference:23 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.

Wikipedia:68 Desmosterolosis is a defect in cholesterol biosynthesis. It results in an accumulation of desmosterol. more...

Related Diseases for Desmosterolosis

About this section

Diseases related to Desmosterolosis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1osteoblastoma10.1
2greenberg skeletal dysplasia9.9
3smith-lemli-opitz syndrome9.9
4aneurysmal bone cysts9.9
5aneurysm9.9
6microcephaly9.9
7retinitis9.9
8spasticity9.9

Graphical network of diseases related to Desmosterolosis:



Diseases related to desmosterolosis

Symptoms for Desmosterolosis

About this section

Symptoms by clinical synopsis from OMIM:

602398

Clinical features from OMIM:

602398

Symptoms:

 51 (show all 38)
  • microcephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • corpus callosum/septum pellucidum total/partial agenesis
  • hypertonia/spasticity/rigidity/stiffness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation
  • strabismus/squint
  • nystagmus
  • nasal atrophy/hypoplasia/arhinia/rudimentary nose
  • depressed nasal bridge
  • microstomia/little mouth
  • low set ears/posteriorly rotated ears
  • thick/wide ear lobe
  • rib structure anomalies
  • dilated cerebral ventricles without hydrocephaly
  • seizures/epilepsy/absences/spasms/status epilepticus
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • frontal bossing/prominent forehead
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • epicanthic folds
  • anomalies of tongue, gingiva and oral mucosa
  • rhizomelic micromelia
  • talipes-varus/metatarsal varus
  • skin hypoplasia/aplasia/atrophy
  • intestinal/gut/bowel malrotation
  • splenomegaly
  • anomalous pulmonary venous return
  • patent ductus arteriosus
  • agenesis/hypoplasia/aplasia of kidneys
  • ambiguous genitalia
  • hydrocephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • osteosclerosis/osteopetrosis/bone condensation
  • stillbirth/neonatal death

HPO human phenotypes related to Desmosterolosis:

(show all 70)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 aplasia/hypoplasia of the corpus callosum hallmark (90%) HP:0007370
3 short stature hallmark (90%) HP:0004322
4 intrauterine growth retardation hallmark (90%) HP:0001511
5 hypertonia hallmark (90%) HP:0001276
6 micrognathia hallmark (90%) HP:0000347
7 microcephaly hallmark (90%) HP:0000252
8 cleft palate hallmark (90%) HP:0000175
9 aplasia/hypoplasia involving the nose typical (50%) HP:0009924
10 large earlobe typical (50%) HP:0009748
11 depressed nasal bridge typical (50%) HP:0005280
12 ventriculomegaly typical (50%) HP:0002119
13 seizures typical (50%) HP:0001250
14 abnormality of the ribs typical (50%) HP:0000772
15 nystagmus typical (50%) HP:0000639
16 strabismus typical (50%) HP:0000486
17 low-set, posteriorly rotated ears typical (50%) HP:0000368
18 narrow mouth typical (50%) HP:0000160
19 increased bone mineral density occasional (7.5%) HP:0011001
20 anomalous pulmonary venous return occasional (7.5%) HP:0010772
21 limb undergrowth occasional (7.5%) HP:0009826
22 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
23 aplasia/hypoplasia of the skin occasional (7.5%) HP:0008065
24 intestinal malrotation occasional (7.5%) HP:0002566
25 abnormality of neuronal migration occasional (7.5%) HP:0002269
26 frontal bossing occasional (7.5%) HP:0002007
27 talipes occasional (7.5%) HP:0001883
28 splenomegaly occasional (7.5%) HP:0001744
29 patent ductus arteriosus occasional (7.5%) HP:0001643
30 downslanted palpebral fissures occasional (7.5%) HP:0000494
31 epicanthus occasional (7.5%) HP:0000286
32 macrocephaly occasional (7.5%) HP:0000256
33 hydrocephalus occasional (7.5%) HP:0000238
34 ambiguous genitalia occasional (7.5%) HP:0000062
35 aplasia/hypoplasia of the corpus callosum 2% HP:0007370
36 abnormality of cholesterol metabolism 2% HP:0003107
37 micrognathia 2% HP:0000347
38 cleft palate 2% HP:0000175
39 joint contracture of the hand very rare (1%) HP:0009473
40 alveolar ridge overgrowth very rare (1%) HP:0009085
41 rhizomelia very rare (1%) HP:0008905
42 generalized osteosclerosis very rare (1%) HP:0005789
43 hypoplastic nasal bridge very rare (1%) HP:0005281
44 total anomalous pulmonary venous return very rare (1%) HP:0005160
45 frontal bossing very rare (1%) HP:0002007
46 bilateral talipes equinovarus very rare (1%) HP:0001776
47 patent ductus arteriosus very rare (1%) HP:0001643
48 global developmental delay very rare (1%) HP:0001263
49 downslanted palpebral fissures very rare (1%) HP:0000494
50 cupped ear very rare (1%) HP:0000378
51 low-set ears very rare (1%) HP:0000369
52 posteriorly rotated ears very rare (1%) HP:0000358
53 epicanthus very rare (1%) HP:0000286
54 macrocephaly very rare (1%) HP:0000256
55 microcephaly very rare (1%) HP:0000252
56 gingival fibromatosis very rare (1%) HP:0000169
57 ambiguous genitalia, female very rare (1%) HP:0000061
58 ambiguous genitalia, male very rare (1%) HP:0000033
59 relative macrocephaly HP:0004482
60 short nose HP:0003196
61 arthrogryposis multiplex congenita HP:0002804
62 ventriculomegaly HP:0002119
63 failure to thrive HP:0001508
64 partial agenesis of the corpus callosum HP:0001338
65 spasticity HP:0001257
66 seizures HP:0001250
67 nystagmus HP:0000639
68 strabismus HP:0000486
69 anteverted nares HP:0000463
70 hydrocephalus HP:0000238

UMLS symptoms related to Desmosterolosis:


seizures, muscle spasticity

Drugs & Therapeutics for Desmosterolosis

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Inborn Errors of Cholesterol Synthesis and Related DisordersRecruitingNCT00046202

Search NIH Clinical Center for Desmosterolosis

Genetic Tests for Desmosterolosis

About this section

Genetic tests related to Desmosterolosis:

id Genetic test Affiliating Genes
1 Desmosterolosis22 DHCR24

Anatomical Context for Desmosterolosis

About this section

MalaCards organs/tissues related to Desmosterolosis:

33
Brain, Bone, Skin, Kidney, Tongue, Temporal lobe, Colon

Animal Models for Desmosterolosis or affiliated genes

About this section

Publications for Desmosterolosis

About this section

Articles related to Desmosterolosis:

idTitleAuthorsYear
1
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders. (24961299)
2014
2
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. (21671375)
2011
3
The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter. (21559050)
2011
4
Differential effects of cholesterol and desmosterol on the ligand binding function of the hippocampal serotonin(1A) receptor: implications in desmosterolosis. (19616511)
2009
5
Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. (12457401)
2002
6
Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. (11519011)
2001
7
Retinal structure and function in an animal model that replicates the biochemical hallmarks of desmosterolosis. (10905631)
2000
8
Clinical phenotype of desmosterolosis. (9450875)
1998
9
Desmosterolosis: a new inborn error of cholesterol biosynthesis. (8709748)
1996

Variations for Desmosterolosis

About this section

UniProtKB/Swiss-Prot genetic disease variations for Desmosterolosis:

67
id Symbol AA change Variation ID SNP ID
1DHCR24p.Glu191LysVAR_012732rs28939093
2DHCR24p.Asn294ThrVAR_012733
3DHCR24p.Lys306AsnVAR_012734
4DHCR24p.Tyr471SerVAR_012735rs28939092

Clinvar genetic disease variations for Desmosterolosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DHCR24NM_014762.3(DHCR24): c.307C> T (p.Arg103Cys)single nucleotide variantPathogenicrs387906938GRCh37Chr 1, 55349371: 55349371
2DHCR24NM_014762.3(DHCR24): c.281G> A (p.Arg94His)single nucleotide variantPathogenicrs387906939GRCh37Chr 1, 55349397: 55349397
3DHCR24NM_014762.3(DHCR24): c.1438G> A (p.Glu480Lys)single nucleotide variantPathogenicrs387906940GRCh37Chr 1, 55318019: 55318019
4DHCR24NM_014762.3(DHCR24): c.1412A> C (p.Tyr471Ser)single nucleotide variantPathogenicrs28939092GRCh37Chr 1, 55318045: 55318045
5DHCR24NM_014762.3(DHCR24): c.881A> C (p.Asn294Thr)single nucleotide variantPathogenicrs281797257GRCh37Chr 1, 55331115: 55331115
6DHCR24NM_014762.3(DHCR24): c.571G> A (p.Glu191Lys)single nucleotide variantPathogenicrs119475041GRCh37Chr 1, 55340807: 55340807

Expression for genes affiliated with Desmosterolosis

About this section
Search GEO for disease gene expression data for Desmosterolosis.

Pathways for genes affiliated with Desmosterolosis

About this section

GO Terms for genes affiliated with Desmosterolosis

About this section

Sources for Desmosterolosis

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet