MCID: DSM002
MIFTS: 32

Desmosterolosis malady

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

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Genetics Home Reference:21 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.

MalaCards based summary: Desmosterolosis is related to smith-lemli-opitz syndrome and microcephaly, and has symptoms including microcephaly, micrognathia/retrognathia/micrognathism/retrognathism and cleft palate without cleft lip/submucosal cleft palate/bifid uvula. An important gene associated with Desmosterolosis is DHCR24 (24-dehydrocholesterol reductase). Affiliated tissues include brain, bone and kidney.

Wikipedia:65 Desmosterolosis is a defect in cholesterol biosynthesis. more...

Description from OMIM:46 602398

Aliases & Classifications for Desmosterolosis

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Desmosterolosis, Aliases & Descriptions:

Name: Desmosterolosis 42 20 22 21 46 44 48 62


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 602398
ICD10 via Orphanet26 Q87.8

Related Diseases for Desmosterolosis

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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
5spasticity10.0

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

Symptoms:

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

HPO human phenotypes related to Desmosterolosis:

(show all 72)
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 autosomal recessive inheritance HP:0000007
60 hydrocephalus HP:0000238
61 anteverted nares HP:0000463
62 strabismus HP:0000486
63 nystagmus HP:0000639
64 seizures HP:0001250
65 spasticity HP:0001257
66 partial agenesis of the corpus callosum HP:0001338
67 failure to thrive HP:0001508
68 ventriculomegaly HP:0002119
69 arthrogryposis multiplex congenita HP:0002804
70 short nose HP:0003196
71 phenotypic variability HP:0003812
72 relative macrocephaly HP:0004482

Drugs & Therapeutics for Desmosterolosis

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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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Genetic tests related to Desmosterolosis:

id Genetic test Affiliating Genes
1 Desmosterolosis20 22 DHCR24

Anatomical Context for Desmosterolosis

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MalaCards organs/tissues related to Desmosterolosis:

32
Brain, Bone, Kidney, Skin, Tongue

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:

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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet