MCID: DSM002
MIFTS: 31

Desmosterolosis malady

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

Aliases & Classifications for Desmosterolosis

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Aliases & Descriptions for Desmosterolosis:

Name: Desmosterolosis 50 46 23 24 52 68 25 12 48 66
Deficiency of 3beta-Hydroxysterol Delta24-Reductase 24
 
Desmos 68

Characteristics:

Orphanet epidemiological data:

52
desmosterolosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal; Age of death: any age,stillbirth

HPO:

62
desmosterolosis:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 602398
Orphanet52 ORPHA35107
ICD10 via Orphanet29 Q87.8
MedGen35 C1865596

Summaries for Desmosterolosis

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OMIM:50 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 cleft palate, microcephaly and micrognathia. An important gene associated with Desmosterolosis is DHCR24 (24-Dehydrocholesterol Reductase). Affiliated tissues include brain, bone and skin.

Genetics Home Reference:24 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.

UniProtKB/Swiss-Prot:68 Desmosterolosis: Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.

Wikipedia:69 Desmosterolosis is a defect in cholesterol biosynthesis. It results in an accumulation of desmosterol. more...

Related Diseases for Desmosterolosis

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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

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Symptoms by clinical synopsis from OMIM:

602398

Clinical features from OMIM:

602398

HPO human phenotypes related to Desmosterolosis:

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

UMLS symptoms related to Desmosterolosis:


muscle spasticity, seizures

Drugs & Therapeutics for Desmosterolosis

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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

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Genetic tests related to Desmosterolosis:

id Genetic test Affiliating Genes
1 Desmosterolosis25 23 DHCR24

Anatomical Context for Desmosterolosis

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MalaCards organs/tissues related to Desmosterolosis:

34
Brain, Bone, Skin

Animal Models for Desmosterolosis or affiliated genes

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Publications for Desmosterolosis

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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

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UniProtKB/Swiss-Prot genetic disease variations for Desmosterolosis:

68
id Symbol AA change Variation ID SNP ID
1DHCR24p.Glu191LysVAR_012732rs28939093
2DHCR24p.Asn294ThrVAR_012733
3DHCR24p.Lys306AsnVAR_012734rs281797256
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.571G> A (p.Glu191Lys)single nucleotide variantPathogenicrs119475041GRCh37Chr 1, 55340807: 55340807

Expression for genes affiliated with Desmosterolosis

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Search GEO for disease gene expression data for Desmosterolosis.

Pathways for genes affiliated with Desmosterolosis

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GO Terms for genes affiliated with Desmosterolosis

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Sources for Desmosterolosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet