MCID: DSM002
MIFTS: 28

Desmosterolosis malady

Bone diseases, Metabolic diseases, Fetal diseases categories

Summaries for Desmosterolosis

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Desmosterolosis is a defect in cholesterol biosynthesis. more...

MalaCards: Desmosterolosis is related to smith-lemli-opitz syndrome and microcephaly, 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:46 602398

Aliases & Classifications for Desmosterolosis

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
desmosterolosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

desmosterolosis 42 20 22 46 44 48 60


External Ids:

OMIM46 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
1smith-lemli-opitz syndrome10.0
2microcephaly10.0
3retinitis10.0
4hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.0

Clinical Features for Desmosterolosis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

602398

Clinical synopsis from OMIM:

602398

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Desmosterolosis

Drug clinical trials:

Search ClinicalTrials for Desmosterolosis

Search NIH Clinical Center for Desmosterolosis

Search CenterWatch 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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Sources:
32MalaCards
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MalaCards organs/tissues related to Desmosterolosis:

32
Bone, Tongue, Skin, Kidney

Animal Models for Desmosterolosis or affiliated genes

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Publications for Desmosterolosis

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Genetic Variations for Desmosterolosis

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Desmosterolosis:

62
id Symbol AA change Variation ID SNP ID
1DHCR24p.Glu191LysVAR_012732rs28939093
2DHCR24p.Asn294ThrVAR_012733
3DHCR24p.Lys306AsnVAR_012734
4DHCR24p.Tyr471SerVAR_012735rs28939092

Expression for genes affiliated with Desmosterolosis

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet