MCID: DSM002
MIFTS: 31

Desmosterolosis malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Desmosterolosis

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Desmosterolosis is a defect in cholesterol biosynthesis. more...

MalaCards: Desmosterolosis is related to microcephaly and smith-lemli-opitz syndrome, and has symptoms including intestinal/gut/bowel malrotation, skin hypoplasia/aplasia/atrophy and talipes-varus/metatarsal varus. An important gene associated with Desmosterolosis is DHCR24 (24-dehydrocholesterol reductase). Affiliated tissues include bone, tongue and skin.

Description from OMIM:47 602398

Aliases & Classifications for Desmosterolosis

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

49
desmosterolosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

desmosterolosis 43 20 22 47 45 49 62


External Ids:

OMIM47 602398
ICD10 via Orphanet26 Q87.8

Related Diseases for Desmosterolosis

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Desmosterolosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1microcephaly10.0
2smith-lemli-opitz syndrome10.0
3retinitis10.0
4hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.0
5spasticity10.0

Graphical network of diseases related to Desmosterolosis:



Diseases related to desmosterolosis

Symptoms for Desmosterolosis

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

602398

Clinical features from OMIM:

602398

Symptoms:

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

Drugs & Therapeutics for Desmosterolosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Desmosterolosis

Search NIH Clinical Center for Desmosterolosis

Genetic Tests for Desmosterolosis

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Desmosterolosis:

id Genetic test Affiliating Genes
1 Desmosterolosis20 22 DHCR24

Anatomical Context for Desmosterolosis

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33MalaCards
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MalaCards organs/tissues related to Desmosterolosis:

33
Bone, Tongue, Skin, Kidney

Animal Models for Desmosterolosis or affiliated genes

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Publications for Desmosterolosis

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Sources:
52PubMed
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Articles related to Desmosterolosis:

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

Variations for Desmosterolosis

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Desmosterolosis:

64
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:

1
id Gene Name 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

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Desmosterolosis

Search GEO for disease gene expression data for Desmosterolosis.

Pathways for genes affiliated with Desmosterolosis

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Compounds for genes affiliated with Desmosterolosis

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GO Terms for genes affiliated with Desmosterolosis

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Products for genes affiliated with Desmosterolosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Desmosterolosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet