DESMOS
MCID: DSM002
MIFTS: 39

Desmosterolosis (DESMOS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Desmosterolosis

MalaCards integrated aliases for Desmosterolosis:

Name: Desmosterolosis 57 20 43 58 72 36 29 13 54 6 39 70
Deficiency of 3beta-Hydroxysterol Delta24-Reductase 43
Desmos 72

Characteristics:

Orphanet epidemiological data:

58
desmosterolosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal; Age of death: any age,stillbirth;

OMIM®:

57 (Updated 20-May-2021)
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:

31
desmosterolosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Desmosterolosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 35107 Definition Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol. Epidemiology Only 9 cases have been reported in the literature to date. Clinical description Desmosterolosis 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. Etiology Desmosterolosis 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 counseling Desmosterolosis is inherited in an autosomal recessive manner and genetic counseling is possible.

MalaCards based summary : Desmosterolosis, also known as deficiency of 3beta-hydroxysterol delta24-reductase, is related to smith-lemli-opitz syndrome and greenberg dysplasia, and has symptoms including seizures and muscle spasticity. An important gene associated with Desmosterolosis is DHCR24 (24-Dehydrocholesterol Reductase), and among its related pathways/superpathways are Steroid biosynthesis and Metabolic pathways. Affiliated tissues include brain, eye and bone, and related phenotypes are intellectual disability and spasticity

MedlinePlus Genetics : 43 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.Children with desmosterolosis have delayed speech and motor skills (such as sitting and walking). Later in childhood, some affected individuals are able to walk with support; verbal communication is often limited to a few words or phrases. Common brain abnormalities in desmosterolosis include malformation of the tissue that connects the left and right halves of the brain (the corpus callosum) and loss of white matter, which consists of nerve fibers covered by a fatty substance called myelin.People with desmosterolosis commonly have muscle stiffness (spasticity) and stiff, rigid joints (arthrogryposis) affecting their hands and feet. Other features seen in some affected individuals include short stature, abnormal head size (either larger or smaller than normal), a small lower jaw (micrognathia), an opening in the roof of the mouth (cleft palate), involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus), heart defects, and seizures.

OMIM® : 57 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) (Updated 20-May-2021)

KEGG : 36 Desmosterolosis is a very rare disorder of cholesterol biosynthesis. Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are caused by impaired cholesterol synthesis due to mutations in the enzyme 24-dehydrocholesterol reductase (DHCR24).

UniProtKB/Swiss-Prot : 72 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 : 73 Desmosterolosis is a defect in cholesterol biosynthesis. It results in an accumulation of desmosterol... more...

Related Diseases for Desmosterolosis

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 smith-lemli-opitz syndrome 11.0
2 greenberg dysplasia 10.9
3 cleft palate, isolated 10.1
4 autosomal recessive disease 10.1
5 opitz gbbb syndrome, type i 10.0
6 microcephaly 10.0
7 spasticity 10.0
8 human immunodeficiency virus type 1 10.0
9 strabismus 9.9
10 raine syndrome 9.9
11 patent ductus arteriosus 1 9.9
12 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
13 hydrocephalus 9.9
14 clubfoot 9.9
15 cataract 9.9
16 mechanical strabismus 9.9
17 pathologic nystagmus 9.9
18 congenital amyoplasia 9.9

Graphical network of the top 20 diseases related to Desmosterolosis:



Diseases related to Desmosterolosis

Symptoms & Phenotypes for Desmosterolosis

Human phenotypes related to Desmosterolosis:

58 31 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
3 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
4 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
5 microcephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000252
6 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
8 micrognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000347
9 muscle stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003552
10 absent septum pellucidum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001331
11 bifid uvula 58 31 hallmark (90%) Very frequent (99-80%) HP:0000193
12 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
13 rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002063
14 submucous cleft hard palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000176
15 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
16 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
17 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
18 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
19 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
20 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
21 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
22 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
23 large earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0009748
24 status epilepticus 58 31 frequent (33%) Frequent (79-30%) HP:0002133
25 macrocephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000256
26 frontal bossing 58 31 very rare (1%) Occasional (29-5%) HP:0002007
27 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
28 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
29 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
30 metatarsus adductus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001840
31 epicanthus 58 31 very rare (1%) Occasional (29-5%) HP:0000286
32 downslanted palpebral fissures 58 31 very rare (1%) Occasional (29-5%) HP:0000494
33 patent ductus arteriosus 58 31 very rare (1%) Occasional (29-5%) HP:0001643
34 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
35 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
36 micromelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002983
37 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
38 polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002126
39 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
40 renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000104
41 osteopetrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011002
42 anomalous pulmonary venous return 58 31 occasional (7.5%) Occasional (29-5%) HP:0010772
43 dermal atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0004334
44 macrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0007227
45 cleft palate 58 31 very rare (1%) Very frequent (99-80%) HP:0000175
46 low-set ears 58 31 very rare (1%) Frequent (79-30%) HP:0000369
47 global developmental delay 31 very rare (1%) HP:0001263
48 aplasia/hypoplasia of the corpus callosum 31 very rare (1%) HP:0007370
49 generalized osteosclerosis 31 very rare (1%) HP:0005789
50 ambiguous genitalia, male 31 very rare (1%) HP:0000033

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
spasticity
hydrocephalus
ventriculomegaly
delayed psychomotor development, severe
more
Head And Neck Face:
frontal bossing
micrognathia

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

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

Genitourinary External Genitalia Male:
ambiguous genitalia

Skeletal Limbs:
rhizomelic shortening

Skeletal Hands:
contractures of the hands

Laboratory Abnormalities:
elevated plasma desmosterol

Growth Other:
failure to thrive

Head And Neck Eyes:
nystagmus
strabismus

Head And Neck Head:
microcephaly
macrocephaly, relative

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Genitourinary External Genitalia Female:
ambiguous genitalia

Skeletal:
osteosclerosis
arthrogryposis

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

Clinical features from OMIM®:

602398 (Updated 20-May-2021)

UMLS symptoms related to Desmosterolosis:


seizures; muscle spasticity

Drugs & Therapeutics for Desmosterolosis

Search Clinical Trials , NIH Clinical Center for Desmosterolosis

Genetic Tests for Desmosterolosis

Genetic tests related to Desmosterolosis:

# Genetic test Affiliating Genes
1 Desmosterolosis 29 DHCR24

Anatomical Context for Desmosterolosis

MalaCards organs/tissues related to Desmosterolosis:

40
Brain, Eye, Bone, Placenta, Liver

Publications for Desmosterolosis

Articles related to Desmosterolosis:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. 6 57 61 54
11519011 2001
2
The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter. 6 57 61
21559050 2011
3
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. 6 57 61
21671375 2011
4
Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. 57 54 61
12457401 2002
5
Clinical phenotype of desmosterolosis. 61 57
9450875 1998
6
Cholesterol modification of hedgehog signaling proteins in animal development. 57
8824192 1996
7
New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). 57
1642277 1992
8
[Seladin-1/DHCR24: a key protein of cell homeostasis and cholesterol biosynthesis]. 54 61
19597241 2009
9
DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis. 54 61
16410790 2006
10
α-Glucosidase inhibitory activity of compounds isolated from the twig and leaf extracts of Desmos dumosus. 61
33665411 2021
11
Generation and validation of a conditional knockout mouse model for desmosterolosis. 61
33524375 2021
12
Polyoxygenated seco-cyclohexenes derivatives from flower and leaf extracts of Desmos cochinchinensis and their α-glucosidase inhibitory activity. 61
33385090 2020
13
Purification and characterization of two grandiuvarones from Desmos chinensis leaves and their antimicrobial activities. 61
30638070 2020
14
Accelerated diversification correlated with functional traits shapes extant diversity of the early divergent angiosperm family Annonaceae. 61
31639525 2020
15
Desmosterolosis and desmosterol homeostasis in the developing mouse brain. 61
30891795 2019
16
Design, synthesis, and antitumor activity of desmosdumotin C analogues. 61
30596267 2019
17
α-Glucosidase Inhibitory Flavonoids and Oxepinones from the Leaf and Twig Extracts of Desmos cochinchinensis. 61
30835120 2019
18
Subcellular localization of sterol biosynthesis enzymes. 61
30535733 2019
19
[Molecular genetic basis of sudden cardiac death in the young with cardiomyopathy of various origins]. 61
31198205 2019
20
First characterization of an anti-lipopolysaccharide factor (ALF) from hydrothermal vent shrimp: Insights into the immune function of deep-sea crustacean ALF. 61
29572135 2018
21
Desmoid tumor of the mesentery in a patient after restorative proctocolectomy as a result of familial adenomatous polyposis - case reports. 61
30015324 2018
22
Desmosterolosis presenting with multiple congenital anomalies. 61
29175559 2018
23
Organ Homologies and Perianth Evolution in the Dasymaschalon Alliance (Annonaceae): Inner Petal Loss and Its Functional Consequences. 61
29515600 2018
24
Stable isotope signatures and nutritional sources of some dominant species from the PACManus hydrothermal area and the Desmos caldera. 61
30557379 2018
25
Comparative transcriptome analysis of Rimicaris sp. reveals novel molecular features associated with survival in deep-sea hydrothermal vent. 61
28515421 2017
26
A comparative study revealed first insights into the diversity and metabolisms of the microbial communities in the sediments of Pacmanus and Desmos hydrothermal fields. 61
28704556 2017
27
Measuring Activity of Cholesterol Synthesis Enzymes Using Gas Chromatography/Mass Spectrometry. 61
28205177 2017
28
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. 61
25646736 2015
29
Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1. 61
25017465 2014
30
Raine syndrome: an overview. 61
25019372 2014
31
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders. 61
24961299 2014
32
Cholesterol metabolism deficiency. 61
23622407 2013
33
Sterol metabolism disorders and neurodevelopment-an update. 61
23798009 2013
34
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. 61
23042573 2012
35
The composition and antimicrobial activities of Cyperus conglomeratus, Desmos chinensis var. lawii and Cyathocalyx zeylanicus essential oils. 61
22799103 2012
36
3β-Hydroxysterol-Delta24 reductase plays an important role in long bone growth by protecting chondrocytes from reactive oxygen species. 61
21845517 2012
37
The leaf essential oils of five Vietnamese Desmos species (Annonaceae). 61
22474966 2012
38
Hybrid flavan-chalcones, aromatase and lipoxygenase inhibitors, from Desmos cochinchinensis. 61
21802698 2011
39
Modeling cholesterol metabolism by gene expression profiling in the hippocampus. 61
21451815 2011
40
Identification and analysis of the promoter region of the human DHCR24 gene: involvement of DNA methylation and histone acetylation. 61
20568014 2011
41
Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments. 61
21247357 2011
42
Malformation syndromes caused by disorders of cholesterol synthesis. 61
20929975 2011
43
Differential effects of cholesterol and desmosterol on the ligand binding function of the hippocampal serotonin(1A) receptor: implications in desmosterolosis. 61
19616511 2009
44
Requirement of DHCR24 for postnatal development of epidermis and hair follicles in mice. 61
19542918 2009
45
Dunaliine A, a new amino diketone from Desmos dunalii (Annonaceae). 61
19401920 2009
46
Antiplasmodial alkaloids from Desmos rostrata. 61
19053513 2008
47
Increased expression of aquaporin-3 in the epidermis of DHCR24 knockout mice. 61
18241265 2008
48
Cholesterol transport by the placenta: placental liver X receptor activity as a modulator of fetal cholesterol metabolism? 61
17141866 2007
49
Cholesterol precursors and facial clefting. 61
16955133 2006
50
Phenolic constituents with inhibitory activity against NFAT transcription from Desmos chinensis. 61
16392667 2005

Variations for Desmosterolosis

ClinVar genetic disease variations for Desmosterolosis:

6 (show top 50) (show all 104)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DHCR24 NM_014762.4(DHCR24):c.1412A>C (p.Tyr471Ser) SNV Pathogenic 4367 rs28939092 GRCh37: 1:55318045-55318045
GRCh38: 1:54852372-54852372
2 DHCR24 NM_014762.4(DHCR24):c.881A>C (p.Asn294Thr) SNV Pathogenic 4368 rs281797257 GRCh37: 1:55331115-55331115
GRCh38: 1:54865442-54865442
3 DHCR24 NM_014762.4(DHCR24):c.1438G>A (p.Glu480Lys) SNV Pathogenic 30578 rs387906940 GRCh37: 1:55318019-55318019
GRCh38: 1:54852346-54852346
4 DHCR24 NM_014762.4(DHCR24):c.307C>T (p.Arg103Cys) SNV Pathogenic 30576 rs387906938 GRCh37: 1:55349371-55349371
GRCh38: 1:54883698-54883698
5 DHCR24 NM_014762.4(DHCR24):c.281G>A (p.Arg94His) SNV Likely pathogenic 30577 rs387906939 GRCh37: 1:55349397-55349397
GRCh38: 1:54883724-54883724
6 DHCR24 NM_014762.4(DHCR24):c.958G>T (p.Glu320Ter) SNV Likely pathogenic 1027890 GRCh37: 1:55331038-55331038
GRCh38: 1:54865365-54865365
7 DHCR24 NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys) SNV Likely pathogenic 4369 rs119475041 GRCh37: 1:55340807-55340807
GRCh38: 1:54875134-54875134
8 DHCR24 NM_014762.4(DHCR24):c.1532G>A (p.Cys511Tyr) SNV Likely pathogenic 807404 rs200415528 GRCh37: 1:55317925-55317925
GRCh38: 1:54852252-54852252
9 DHCR24 NM_014762.4(DHCR24):c.1504G>A (p.Ala502Thr) SNV Likely pathogenic 807405 rs915474087 GRCh37: 1:55317953-55317953
GRCh38: 1:54852280-54852280
10 DHCR24 NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter) SNV Uncertain significance 828023 rs563822834 GRCh37: 1:55317977-55317977
GRCh38: 1:54852304-54852304
11 DHCR24 NM_014762.4(DHCR24):c.1241_1242insAGTCC (p.Phe415fs) Insertion Uncertain significance 828024 rs1570178668 GRCh37: 1:55319262-55319263
GRCh38: 1:54853589-54853590
12 DHCR24 NM_014762.4(DHCR24):c.*2038G>A SNV Uncertain significance 874180 GRCh37: 1:55315868-55315868
GRCh38: 1:54850195-54850195
13 DHCR24 NM_014762.4(DHCR24):c.*1876T>C SNV Uncertain significance 874181 GRCh37: 1:55316030-55316030
GRCh38: 1:54850357-54850357
14 DHCR24 NM_014762.4(DHCR24):c.*1815A>T SNV Uncertain significance 874182 GRCh37: 1:55316091-55316091
GRCh38: 1:54850418-54850418
15 DHCR24 NM_014762.4(DHCR24):c.*426G>A SNV Uncertain significance 874233 GRCh37: 1:55317480-55317480
GRCh38: 1:54851807-54851807
16 DHCR24 NM_014762.4(DHCR24):c.616G>A (p.Glu206Lys) SNV Uncertain significance 874282 GRCh37: 1:55337283-55337283
GRCh38: 1:54871610-54871610
17 DHCR24 NM_014762.4(DHCR24):c.*1535G>A SNV Uncertain significance 875112 GRCh37: 1:55316371-55316371
GRCh38: 1:54850698-54850698
18 DHCR24 NM_014762.4(DHCR24):c.*1389T>C SNV Uncertain significance 875113 GRCh37: 1:55316517-55316517
GRCh38: 1:54850844-54850844
19 DHCR24 NM_014762.4(DHCR24):c.*1267G>A SNV Uncertain significance 875114 GRCh37: 1:55316639-55316639
GRCh38: 1:54850966-54850966
20 DHCR24 NM_014762.4(DHCR24):c.*278G>A SNV Uncertain significance 875158 GRCh37: 1:55317628-55317628
GRCh38: 1:54851955-54851955
21 DHCR24 NM_014762.4(DHCR24):c.500T>C (p.Leu167Ser) SNV Uncertain significance 560988 rs1557437639 GRCh37: 1:55340878-55340878
GRCh38: 1:54875205-54875205
22 DHCR24 NM_014762.4(DHCR24):c.1397+2T>A SNV Uncertain significance 632111 rs1314761103 GRCh37: 1:55319105-55319105
GRCh38: 1:54853432-54853432
23 DHCR24 NM_014762.4(DHCR24):c.*125A>G SNV Uncertain significance 875160 GRCh37: 1:55317781-55317781
GRCh38: 1:54852108-54852108
24 DHCR24 NM_014762.4(DHCR24):c.*2468T>C SNV Uncertain significance 875989 GRCh37: 1:55315438-55315438
GRCh38: 1:54849765-54849765
25 DHCR24 NM_014762.4(DHCR24):c.*1137G>C SNV Uncertain significance 876062 GRCh37: 1:55316769-55316769
GRCh38: 1:54851096-54851096
26 DHCR24 NM_014762.4(DHCR24):c.*1073C>G SNV Uncertain significance 876063 GRCh37: 1:55316833-55316833
GRCh38: 1:54851160-54851160
27 DHCR24 NM_014762.4(DHCR24):c.*984G>A SNV Uncertain significance 876064 GRCh37: 1:55316922-55316922
GRCh38: 1:54851249-54851249
28 DHCR24 NM_014762.4(DHCR24):c.-77C>T SNV Uncertain significance 297669 rs548661780 GRCh37: 1:55352869-55352869
GRCh38: 1:54887196-54887196
29 DHCR24 NM_014762.4(DHCR24):c.*1121A>G SNV Uncertain significance 297630 rs886046415 GRCh37: 1:55316785-55316785
GRCh38: 1:54851112-54851112
30 DHCR24 NM_014762.4(DHCR24):c.*27dup Duplication Uncertain significance 297653 rs757256992 GRCh37: 1:55317878-55317879
GRCh38: 1:54852205-54852206
31 DHCR24 NM_014762.4(DHCR24):c.*172A>G SNV Uncertain significance 297650 rs886046420 GRCh37: 1:55317734-55317734
GRCh38: 1:54852061-54852061
32 DHCR24 NM_014762.4(DHCR24):c.*508T>C SNV Uncertain significance 297639 rs886046416 GRCh37: 1:55317398-55317398
GRCh38: 1:54851725-54851725
33 DHCR24 NM_014762.4(DHCR24):c.712G>A (p.Val238Ile) SNV Uncertain significance 297659 rs886046421 GRCh37: 1:55337187-55337187
GRCh38: 1:54871514-54871514
34 DHCR24 NM_014762.4(DHCR24):c.388-10G>T SNV Uncertain significance 297662 rs774425757 GRCh37: 1:55341730-55341730
GRCh38: 1:54876057-54876057
35 DHCR24 NM_014762.4(DHCR24):c.*2119C>T SNV Uncertain significance 297619 rs886046414 GRCh37: 1:55315787-55315787
GRCh38: 1:54850114-54850114
36 DHCR24 NM_014762.4(DHCR24):c.*434A>T SNV Uncertain significance 297642 rs886046417 GRCh37: 1:55317472-55317472
GRCh38: 1:54851799-54851799
37 DHCR24 NM_014762.4(DHCR24):c.*1424C>T SNV Uncertain significance 297628 rs113651566 GRCh37: 1:55316482-55316482
GRCh38: 1:54850809-54850809
38 DHCR24 NM_014762.4(DHCR24):c.615C>T (p.Ser205=) SNV Uncertain significance 297661 rs147213053 GRCh37: 1:55337284-55337284
GRCh38: 1:54871611-54871611
39 DHCR24 NM_014762.4(DHCR24):c.-27G>T SNV Uncertain significance 297666 rs532827290 GRCh37: 1:55352819-55352819
GRCh38: 1:54887146-54887146
40 DHCR24 NM_014762.4(DHCR24):c.798C>T (p.Phe266=) SNV Uncertain significance 297657 rs142421002 GRCh37: 1:55337101-55337101
GRCh38: 1:54871428-54871428
41 DHCR24 NM_014762.4(DHCR24):c.*2514A>G SNV Uncertain significance 297614 rs532882730 GRCh37: 1:55315392-55315392
GRCh38: 1:54849719-54849719
42 DHCR24 NM_014762.4(DHCR24):c.*1489G>A SNV Uncertain significance 297626 rs192013345 GRCh37: 1:55316417-55316417
GRCh38: 1:54850744-54850744
43 DHCR24 NM_014762.4(DHCR24):c.726C>A (p.Phe242Leu) SNV Uncertain significance 297658 rs138043637 GRCh37: 1:55337173-55337173
GRCh38: 1:54871500-54871500
44 DHCR24 NM_014762.4(DHCR24):c.*2245A>T SNV Uncertain significance 297618 rs886046413 GRCh37: 1:55315661-55315661
GRCh38: 1:54849988-54849988
45 DHCR24 NM_014762.4(DHCR24):c.*914G>A SNV Uncertain significance 297632 rs140759061 GRCh37: 1:55316992-55316992
GRCh38: 1:54851319-54851319
46 DHCR24 NM_014762.4(DHCR24):c.*2503C>T SNV Uncertain significance 297615 rs886046412 GRCh37: 1:55315403-55315403
GRCh38: 1:54849730-54849730
47 DHCR24 NM_014762.4(DHCR24):c.*1264T>C SNV Uncertain significance 297629 rs553462271 GRCh37: 1:55316642-55316642
GRCh38: 1:54850969-54850969
48 DHCR24 NM_014762.4(DHCR24):c.*180_*181del Deletion Uncertain significance 297649 rs886046419 GRCh37: 1:55317725-55317726
GRCh38: 1:54852052-54852053
49 DHCR24 NM_014762.4(DHCR24):c.*316T>G SNV Uncertain significance 297646 rs74072037 GRCh37: 1:55317590-55317590
GRCh38: 1:54851917-54851917
50 DHCR24 NM_014762.4(DHCR24):c.*577C>T SNV Uncertain significance 297638 rs57714270 GRCh37: 1:55317329-55317329
GRCh38: 1:54851656-54851656

UniProtKB/Swiss-Prot genetic disease variations for Desmosterolosis:

72
# Symbol AA change Variation ID SNP ID
1 DHCR24 p.Glu191Lys VAR_012732 rs119475041
2 DHCR24 p.Asn294Thr VAR_012733 rs281797257
3 DHCR24 p.Lys306Asn VAR_012734 rs281797256
4 DHCR24 p.Tyr471Ser VAR_012735 rs28939092
5 DHCR24 p.Arg94His VAR_081889 rs387906939
6 DHCR24 p.Glu480Lys VAR_081890 rs387906940

Expression for Desmosterolosis

Search GEO for disease gene expression data for Desmosterolosis.

Pathways for Desmosterolosis

Pathways related to Desmosterolosis according to KEGG:

36
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100
2 Metabolic pathways hsa01100

GO Terms for Desmosterolosis

Sources for Desmosterolosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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