MCID: DSM002
MIFTS: 32

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 52 48 24 25 54 70 27 12 50 68
Deficiency of 3beta-Hydroxysterol Delta24-Reductase 25
 
Desmos 70

Characteristics:

Orphanet epidemiological data:

54
desmosterolosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal; Age of death: any age,stillbirth

HPO:

64
desmosterolosis:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 602398
Orphanet54 ORPHA35107
ICD10 via Orphanet31 Q87.8
MedGen37 C1865596

Summaries for Desmosterolosis

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OMIM:52 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 greenberg skeletal dysplasia and smith-lemli-opitz syndrome, 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:25 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:70 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:71 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
1greenberg skeletal dysplasia10.8
2smith-lemli-opitz syndrome10.8
3osteoblastoma9.9
4aneurysmal bone cysts9.8
5aneurysm9.8
6microcephaly9.8
7retinitis9.8
8spasticity9.8

Graphical network of diseases related to Desmosterolosis:



Diseases related to desmosterolosis

Symptoms & Phenotypes for Desmosterolosis

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Symptoms by clinical synopsis from OMIM:

602398

Clinical features from OMIM:

602398

Human phenotypes related to Desmosterolosis:

 64 (show all 56)
id Description HPO Frequency HPO Source Accession
1 cleft palate64 hallmark (90%) HP:0000175
2 microcephaly64 hallmark (90%) HP:0000252
3 micrognathia64 hallmark (90%) HP:0000347
4 hypertonia64 hallmark (90%) HP:0001276
5 intrauterine growth retardation64 hallmark (90%) HP:0001511
6 short stature64 hallmark (90%) HP:0004322
7 aplasia/hypoplasia of the corpus callosum64 hallmark (90%) HP:0007370
8 cognitive impairment64 hallmark (90%) HP:0100543
9 narrow mouth64 typical (50%) HP:0000160
10 low-set, posteriorly rotated ears64 typical (50%) HP:0000368
11 strabismus64 typical (50%) HP:0000486
12 nystagmus64 typical (50%) HP:0000639
13 abnormality of the ribs64 typical (50%) HP:0000772
14 seizures64 typical (50%) HP:0001250
15 ventriculomegaly64 typical (50%) HP:0002119
16 depressed nasal bridge64 typical (50%) HP:0005280
17 large earlobe64 typical (50%) HP:0009748
18 aplasia/hypoplasia involving the nose64 typical (50%) HP:0009924
19 ambiguous genitalia64 occasional (7.5%) HP:0000062
20 hydrocephalus64 occasional (7.5%) HP:0000238
21 macrocephaly64 occasional (7.5%) HP:0000256
22 epicanthus64 occasional (7.5%) HP:0000286
23 downslanted palpebral fissures64 occasional (7.5%) HP:0000494
24 patent ductus arteriosus64 occasional (7.5%) HP:0001643
25 splenomegaly64 occasional (7.5%) HP:0001744
26 talipes64 occasional (7.5%) HP:0001883
27 frontal bossing64 occasional (7.5%) HP:0002007
28 abnormality of neuronal migration64 occasional (7.5%) HP:0002269
29 intestinal malrotation64 occasional (7.5%) HP:0002566
30 aplasia/hypoplasia of the skin64 occasional (7.5%) HP:0008065
31 renal hypoplasia/aplasia64 occasional (7.5%) HP:0008678
32 limb undergrowth64 occasional (7.5%) HP:0009826
33 anomalous pulmonary venous return64 occasional (7.5%) HP:0010772
34 increased bone mineral density64 occasional (7.5%) HP:0011001
35 abnormality of cholesterol metabolism64 2% HP:0003107
36 ambiguous genitalia, male64 very rare (1%) HP:0000033
37 ambiguous genitalia, female64 very rare (1%) HP:0000061
38 gingival fibromatosis64 very rare (1%) HP:0000169
39 posteriorly rotated ears64 very rare (1%) HP:0000358
40 low-set ears64 very rare (1%) HP:0000369
41 cupped ear64 very rare (1%) HP:0000378
42 global developmental delay64 very rare (1%) HP:0001263
43 bilateral talipes equinovarus64 very rare (1%) HP:0001776
44 total anomalous pulmonary venous return64 very rare (1%) HP:0005160
45 hypoplastic nasal bridge64 very rare (1%) HP:0005281
46 generalized osteosclerosis64 very rare (1%) HP:0005789
47 rhizomelia64 very rare (1%) HP:0008905
48 alveolar ridge overgrowth64 very rare (1%) HP:0009085
49 joint contracture of the hand64 very rare (1%) HP:0009473
50 anteverted nares64 HP:0000463
51 spasticity64 HP:0001257
52 partial agenesis of the corpus callosum64 HP:0001338
53 failure to thrive64 HP:0001508
54 arthrogryposis multiplex congenita64 HP:0002804
55 short nose64 HP:0003196
56 relative macrocephaly64 HP:0004482

UMLS symptoms related to Desmosterolosis:


muscle spasticity, seizures

Drugs & Therapeutics for Desmosterolosis

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Drugs for Desmosterolosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1PhytosterolNutraceutical115

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 Desmosterolosis27 24 DHCR24

Anatomical Context for Desmosterolosis

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MalaCards organs/tissues related to Desmosterolosis:

36
Brain, Bone, Skin

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:

70
id Symbol AA change Variation ID SNP ID
1DHCR24p.Glu191LysVAR_012732rs28939093
2DHCR24p.Asn294ThrVAR_012733rs281797257
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)SNVPathogenicrs387906938GRCh37Chr 1, 55349371: 55349371
2DHCR24NM_014762.3(DHCR24): c.281G> A (p.Arg94His)SNVPathogenicrs387906939GRCh37Chr 1, 55349397: 55349397
3DHCR24NM_014762.3(DHCR24): c.1438G> A (p.Glu480Lys)SNVPathogenicrs387906940GRCh37Chr 1, 55318019: 55318019
4DHCR24NM_014762.3(DHCR24): c.1412A> C (p.Tyr471Ser)SNVPathogenicrs28939092GRCh37Chr 1, 55318045: 55318045
5DHCR24NM_014762.3(DHCR24): c.571G> A (p.Glu191Lys)SNVPathogenicrs119475041GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet