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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
..Starting node ..Desmosterolosis (C566555)
Child Nodes:
Sister Nodes:
..2,4-Dienoyl-CoA Reductase Deficiency (C565624)
..Acetyl-Coa Carboxylase Deficiency (C562678)
..Alpha-Methylacyl-CoA Racemase Deficiency (C565768)
..Apolipoprotein E, Deficiency or Defect of (C566260)
..Barth Syndrome (D056889) 2
..Carnitine palmitoyl transferase 1A deficiency (C535588)
..Carnitine Palmitoyltransferase II Deficiency, Infantile (C563462)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Carnitine-Acylcarnitine Translocase Deficiency (C562812)
..Cholesteryl Ester Transfer Protein Deficiency (C564591)
..Cytosolic acetoacetyl-CoA thiolase deficiency (C536005)
..Desmosterolosis (C566555)
..Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency (C536080)
..Hyperlipidemia, Familial Combined (D006950) 2
..Hyperlipoproteinemia Type I (D008072) 1
..Hyperlipoproteinemia Type II (D006938) 4
..Hyperlipoproteinemia Type III (D006952)
..Hyperlipoproteinemia Type IV (D006953)
..Hyperlipoproteinemia Type V (D006954)
..Hypolipoproteinemias (D007009) 14
..Lipase deficiency combined (C535904)
..Lipidoses (D008064) 71
..Lipodystrophy, Congenital Generalized (D052497) 3
..Long-chain acyl-CoA dehydrogenase deficiency (C535690)
..Lp(A) Deficiency, Congenital (C563618)
..Medium chain acyl CoA dehydrogenase deficiency (C536038)
..Myopathy with Abnormal Lipid Metabolism (C562935)
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Peroxisomal ACYL-COA oxidase deficiency (C536662)
..Short chain Acyl CoA dehydrogenase deficiency (C537596)
..Sitosterolemia (C537345)
..Smith-Lemli-Opitz Syndrome (D019082) 1
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Triglyceride Storage Disease, Type I (C566031)
..Triglyceride Storage Disease, Type II (C566030)
..VLCAD deficiency (C536353)
..Xanthomatosis, Cerebrotendinous (D019294)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3254

Name:

Desmosterolosis

Definition:

Alternative IDs:

OMIM:602398

ParentIDs:

MESH:D000015|MESH:D008052

TreeNumbers:

C16.131.077/C566555 |C16.320.565.398/C566555 |C18.452.584.562/C566555 |C18.452.648.398/C566555

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C566555
MeSH: C566555
OMIM: 602398;

Genes: DHCR24;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003107	Abnormal circulating cholesterol concentration	HP:0040284
3	HP:0009085	Alveolar ridge overgrowth	HP:0040284
4	HP:0000061	Ambiguous genitalia, female	HP:0040284
5	HP:0000033	Ambiguous genitalia, male	HP:0040284
6	HP:0000463	Anteverted nares
7	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040284
8	HP:0002804	Arthrogryposis multiplex congenita
9	HP:0001776	Bilateral talipes equinovarus	HP:0040284
10	HP:0000175	Cleft palate	HP:0040284
11	HP:0000378	Cupped ear	HP:0040284
12	HP:0000494	Downslanted palpebral fissures	HP:0040284
13	HP:0000286	Epicanthus	HP:0040284
14	HP:0001508	Failure to thrive
15	HP:0002007	Frontal bossing	HP:0040284
16	HP:0005789	Generalized osteosclerosis	HP:0040284
17	HP:0000169	Gingival fibromatosis	HP:0040284
18	HP:0001263	Global developmental delay	HP:0040284
19	HP:0000238	Hydrocephalus
20	HP:0005281	Hypoplastic nasal bridge	HP:0040284
21	HP:0009473	Joint contracture of the hand	HP:0040284
22	HP:0000369	Low-set ears	HP:0040284
23	HP:0000256	Macrocephaly	HP:0040284
24	HP:0000252	Microcephaly	HP:0040284
25	HP:0000347	Micrognathia	HP:0040284
26	HP:0000639	Nystagmus
27	HP:0001338	Partial agenesis of the corpus callosum
28	HP:0001643	Patent ductus arteriosus	HP:0040284
29	HP:0003812	Phenotypic variability
30	HP:0000358	Posteriorly rotated ears	HP:0040284
31	HP:0004482	Relative macrocephaly
32	HP:0008905	Rhizomelia	HP:0040284
33	HP:0001250	Seizure
34	HP:0003196	Short nose
35	HP:0001257	Spasticity
36	HP:0000486	Strabismus
37	HP:0005160	Total anomalous pulmonary venous return	HP:0040284
38	HP:0002119	Ventriculomegaly

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_014762.3(DHCR24):c.1438G>A (p.Glu480Lys)	1718	DHCR24	Pathogenic	387906940	RCV000023541;	N	MedGen:C1865596,OMIM:602398,ORPHA:35107	1	55318019	55318019	NM_014762.3:c.1438G>A	NP_055577.1:p.Glu480Lys	NC_000001.10:g.55318019C>T	OMIM Allelic Variant:606418.0006	C1865596 602398 Desmosterolosis
NM_014762.3(DHCR24):c.1412A>C (p.Tyr471Ser)	1718	DHCR24	Pathogenic	28939092	RCV000004615;	N	MedGen:C1865596,OMIM:602398,ORPHA:35107	1	55318045	55318045	NM_014762.3:c.1412A>C	NP_055577.1:p.Tyr471Ser	NC_000001.10:g.55318045T>G	OMIM Allelic Variant:606418.0001	C1865596 602398 Desmosterolosis
NM_014762.3(DHCR24):c.918G>C (p.Lys306Asn)	1718	DHCR24	Pathogenic	281797256	RCV000004616;	N	MedGen:C1865596,OMIM:602398,ORPHA:35107	1	55331078	55331078	NM_014762.3:c.918G>C	NP_055577.1:p.Lys306Asn	NC_000001.10:g.55331078C>G	OMIM Allelic Variant:606418.0002	C1865596 602398 Desmosterolosis
NM_014762.3(DHCR24):c.881A>C (p.Asn294Thr)	1718	DHCR24	Pathogenic	281797257	RCV000004616;	N	MedGen:C1865596,OMIM:602398,ORPHA:35107	1	55331115	55331115	NM_014762.3:c.881A>C	NP_055577.1:p.Asn294Thr	NC_000001.10:g.55331078C>G	OMIM Allelic Variant:606418.0002	C1865596 602398 Desmosterolosis
NM_014762.3(DHCR24):c.571G>A (p.Glu191Lys)	1718	DHCR24	Pathogenic	119475041	RCV000004617;	N	MedGen:C1865596,OMIM:602398,ORPHA:35107	1	55340807	55340807	NM_014762.3:c.571G>A	NP_055577.1:p.Glu191Lys	NC_000001.10:g.55340807C>T	OMIM Allelic Variant:606418.0003	C1865596 602398 Desmosterolosis
NM_014762.3(DHCR24):c.307C>T (p.Arg103Cys)	1718	DHCR24	Pathogenic	387906938	RCV000023539;	N	MedGen:C1865596,OMIM:602398,ORPHA:35107	1	55349371	55349371	NM_014762.3:c.307C>T	NP_055577.1:p.Arg103Cys	NC_000001.10:g.55349371G>A	OMIM Allelic Variant:606418.0004	C1865596 602398 Desmosterolosis
NM_014762.3(DHCR24):c.281G>A (p.Arg94His)	1718	DHCR24	Pathogenic	387906939	RCV000023540;	N	MedGen:C1865596,OMIM:602398,ORPHA:35107	1	55349397	55349397	NM_014762.3:c.281G>A	NP_055577.1:p.Arg94His	NC_000001.10:g.55349397C>T	OMIM Allelic Variant:606418.0005	C1865596 602398 Desmosterolosis