DESMOS
MCID: DSM002
MIFTS: 31

Desmosterolosis (DESMOS) malady

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

Aliases & Classifications for Desmosterolosis

Aliases & Descriptions for Desmosterolosis:

Name: Desmosterolosis 54 50 24 25 56 66 29 13 52 69
Deficiency of 3beta-Hydroxysterol Delta24-Reductase 25
Desmos 66

Characteristics:

Orphanet epidemiological data:

56
desmosterolosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal; Age of death: any age,stillbirth;

HPO:

32
desmosterolosis:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 602398
Orphanet 56 ORPHA35107
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1865596

Summaries for Desmosterolosis

OMIM : 54 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 seizures, macrocephaly and low-set ears. An important gene associated with Desmosterolosis is DHCR24 (24-Dehydrocholesterol Reductase). The drug Phytosterol has been mentioned in the context of this disorder. Affiliated tissues include brain and bone.

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 : 66 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... more...

Related Diseases for Desmosterolosis

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

id Related Disease Score Top Affiliating Genes
1 greenberg skeletal dysplasia 10.8
2 smith-lemli-opitz syndrome 10.8
3 osteoblastoma 9.9
4 aneurysmal bone cysts 9.8
5 aneurysm 9.8
6 microcephaly 9.8
7 retinitis 9.8
8 spasticity 9.8

Graphical network of the top 20 diseases related to Desmosterolosis:



Diseases related to Desmosterolosis

Symptoms & Phenotypes for Desmosterolosis

Symptoms by clinical synopsis from OMIM:

602398

Clinical features from OMIM:

602398

Human phenotypes related to Desmosterolosis:

32 (show all 36)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 macrocephaly 32 HP:0000256
3 low-set ears 32 HP:0000369
4 frontal bossing 32 HP:0002007
5 hydrocephalus 32 HP:0000238
6 nystagmus 32 HP:0000639
7 spasticity 32 HP:0001257
8 failure to thrive 32 HP:0001508
9 global developmental delay 32 HP:0001263
10 short nose 32 HP:0003196
11 microcephaly 32 HP:0000252
12 anteverted nares 32 HP:0000463
13 cleft palate 32 HP:0000175
14 micrognathia 32 HP:0000347
15 generalized osteosclerosis 32 HP:0005789
16 strabismus 32 HP:0000486
17 patent ductus arteriosus 32 HP:0001643
18 epicanthus 32 HP:0000286
19 ventriculomegaly 32 HP:0002119
20 arthrogryposis multiplex congenita 32 HP:0002804
21 rhizomelia 32 HP:0008905
22 downslanted palpebral fissures 32 HP:0000494
23 partial agenesis of the corpus callosum 32 HP:0001338
24 aplasia/hypoplasia of the corpus callosum 32 HP:0007370
25 ambiguous genitalia, male 32 HP:0000033
26 bilateral talipes equinovarus 32 HP:0001776
27 abnormality of cholesterol metabolism 32 HP:0003107
28 cupped ear 32 HP:0000378
29 gingival fibromatosis 32 HP:0000169
30 posteriorly rotated ears 32 HP:0000358
31 ambiguous genitalia, female 32 HP:0000061
32 hypoplastic nasal bridge 32 HP:0005281
33 joint contracture of the hand 32 HP:0009473
34 total anomalous pulmonary venous return 32 HP:0005160
35 relative macrocephaly 32 HP:0004482
36 alveolar ridge overgrowth 32 HP:0009085

UMLS symptoms related to Desmosterolosis:


muscle spasticity, seizures

Drugs & Therapeutics for Desmosterolosis

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Phytosterol Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202

Search NIH Clinical Center for Desmosterolosis

Genetic Tests for Desmosterolosis

Genetic tests related to Desmosterolosis:

id Genetic test Affiliating Genes
1 Desmosterolosis 29 24 DHCR24

Anatomical Context for Desmosterolosis

MalaCards organs/tissues related to Desmosterolosis:

39
Brain, Bone

Publications for Desmosterolosis

Articles related to Desmosterolosis:

id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Desmosterolosis:

66
id Symbol AA change Variation ID SNP ID
1 DHCR24 p.Glu191Lys VAR_012732 rs28939093
2 DHCR24 p.Asn294Thr VAR_012733 rs281797257
3 DHCR24 p.Lys306Asn VAR_012734 rs281797256
4 DHCR24 p.Tyr471Ser VAR_012735 rs28939092

ClinVar genetic disease variations for Desmosterolosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DHCR24 NM_014762.3(DHCR24): c.1412A> C (p.Tyr471Ser) single nucleotide variant Pathogenic rs28939092 GRCh37 Chromosome 1, 55318045: 55318045
2 DHCR24 NM_014762.3(DHCR24): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic rs119475041 GRCh37 Chromosome 1, 55340807: 55340807
3 DHCR24 NM_014762.3(DHCR24): c.307C> T (p.Arg103Cys) single nucleotide variant Pathogenic rs387906938 GRCh37 Chromosome 1, 55349371: 55349371
4 DHCR24 NM_014762.3(DHCR24): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic rs387906939 GRCh37 Chromosome 1, 55349397: 55349397
5 DHCR24 NM_014762.3(DHCR24): c.1438G> A (p.Glu480Lys) single nucleotide variant Pathogenic rs387906940 GRCh37 Chromosome 1, 55318019: 55318019

Expression for Desmosterolosis

Search GEO for disease gene expression data for Desmosterolosis.

Pathways for Desmosterolosis

GO Terms for Desmosterolosis

Sources for Desmosterolosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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