MCID: DSM002
MIFTS: 33

Desmosterolosis

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

Aliases & Classifications for Desmosterolosis

MalaCards integrated aliases for Desmosterolosis:

Name: Desmosterolosis 54 50 24 25 56 71 29 13 52 69
Deficiency of 3beta-Hydroxysterol Delta24-Reductase 25
Desmos 71

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;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
patients from 4 unrelated families have been reported (as of october 2011)
dysmorphic facial features may not be present


HPO:

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


Classifications:



Summaries for Desmosterolosis

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 35107disease definitiondesmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.epidemiologyonly 9 cases have been reported in the literature to date.clinical descriptiondesmosterolosis presents at birth with growth restriction, spasticity with variable degrees of hand contractures, either microcephaly or relative macrocephaly, and microretrognathia. transient neonatal seizures, nystagmus, strabismus and failure to thrive are also seen in most cases. intellectual disability occurs in all patients and is first noted by delayed milestones for speech and adaptive, fine and gross motor development. less common manifestations reported include hirsutism, facial dysmorphism (downslanting palpebral fissures, bilateral epicanthal folds, submucous cleft palate, and thick alveolar ridges), sensorineural hearing loss, patent arterial duct, ambiguous genitalia, bilateral clubfeet, muscle wasting, and cutis aplasia. optic atrophy, corpus callosum agenesis and loss of white matter are also noted.etiologydesmosterolosis is due to mutations in the dhcr24 gene (1p32.3) encoding 3-beta-hydroxysterol delta-24-reductase. this enzyme catalyzes the conversion of desmosterol (the cholesterol precursor) to cholesterol, which is highly involved in embryonic development and morphogenesis. reduced enzyme activity leads to the accumulation of desmosterol and a lack of cholesterol, disrupting antenatal and postnatal development.genetic counselingdesmosterolosis is inherited in an autosomal recessive manner and genetic counseling is possible.visit the orphanet disease page for more resources. last updated: 12/2/2014

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 failure to thrive, nystagmus and strabismus. 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.

OMIM : 54
Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Waterham et al., 2001). (602398)

UniProtKB/Swiss-Prot : 71 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 : 72 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 via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Neurologic- Central Nervous System:
delayed psychomotor development, severe
ventriculomegaly
spasticity
seizures
hydrocephalus
more
Head And Neck- Ears:
low-set ears
posteriorly rotated ears

Genitourinary- External Genitalia Female:
ambiguous genitalia

Head And Neck- Mouth:
cleft palate
thick alveolar ridges
gingival nodules

Cardiovascular- Heart:
total anomalous pulmonary venous drainage (1 patient)

Skeletal- Limbs:
rhizomelic shortening

Laboratory- Abnormalities:
elevated plasma desmosterol

Head And Neck- Eyes:
nystagmus
strabismus

Head And Neck- Head:
microcephaly
macrocephaly, relative

Head And Neck- Face:
micrognathia
frontal bossing

Genitourinary- External Genitalia Male:
ambiguous genitalia

Head And Neck- Nose:
hypoplastic nasal bridge
short nose
anteverted nares

Skeletal:
arthrogryposis
osteosclerosis

Skeletal- Hands:
contractures of the hands


Clinical features from OMIM:

602398

Human phenotypes related to Desmosterolosis:

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

71
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/Likely 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....