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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: Dyslipidemias (D050171)
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
Parent Node: Steroid Metabolism, Inborn Errors (D043202)
..Starting node ..Smith-Lemli-Opitz Syndrome (D019082)
Child Nodes:
........Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
Sister Nodes:
..17-Hydroxysteroid Dehydrogenase Deficiency (C537805) 1
..Adrenal Hyperplasia, Congenital (D000312) 12
..Antley-Bixler Syndrome Phenotype (D054882) 2
..Bile acid synthesis defect, congenital, 1 (C535442)
..Bile acid synthesis defect, congenital, 2 (C535443)
..Bile Acid Synthesis Defect, Congenital, 3 (C566340)
..Cortisone reductase deficiency (C536447)
..Familial Glucocorticoid Deficiency 1 (C565974)
..Hypercholanemia, Familial (C564336)
..Ichthyosis, X-Linked (D016114) 2
..Lathosterolosis (C537880)
..Lyngstadaas syndrome (C537490)
..Mineralocorticoid Excess Syndrome, Apparent (D043204) 1
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Smith-Lemli-Opitz Syndrome (D019082) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10325

Name:

Smith-Lemli-Opitz Syndrome

Definition:

An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.

Alternative IDs:

OMIM:270400

ParentIDs:

MESH:D000015|MESH:D008052|MESH:D043202|MESH:D050171

TreeNumbers:

C16.131.077.860 |C16.320.565.398.850 |C16.320.565.925.875 |C18.452.584.500.937 |C18.452.648.398.850 |C18.452.648.925.875

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: D019082
MeSH: D019082
OMIM: 270400;

Genes: DHCR7;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004691	2-3 toe syndactyly
3	HP:0002101	Abnormal lung lobation
4	HP:0002251	Aganglionic megacolon
5	HP:0000718	Aggressive behavior
6	HP:0000062	Ambiguous genitalia
7	HP:0000463	Anteverted nares
8	HP:0001631	Atrial septal defect
9	HP:0000717	Autism
10	HP:0000813	Bicornuate uterus
11	HP:0000048	Bifid scrotum
12	HP:0001623	Breech presentation
13	HP:0000187	Broad alveolar ridges
14	HP:0000518	Cataract
15	HP:0002611	Cholestatic liver disease
16	HP:0000175	Cleft palate
17	HP:0001680	Coarctation of aorta
18	HP:0002019	Constipation
19	HP:0000028	Cryptorchidism
20	HP:0001305	Dandy-Walker malformation
21	HP:0001558	Decreased fetal movement
22	HP:0000678	Dental crowding
23	HP:0005280	Depressed nasal bridge
24	HP:0000964	Eczema
25	HP:0010569	Elevated 7-dehydrocholesterol
26	HP:0000286	Epicanthus
27	HP:0010655	Epiphyseal stippling
28	HP:0000996	Facial capillary hemangioma
29	HP:0001508	Failure to thrive
30	HP:0002020	Gastroesophageal reflux
31	HP:0002579	Gastrointestinal dysmotility
32	HP:0001290	Generalized hypotonia
33	HP:0001765	Hammertoe
34	HP:0000365	Hearing impairment
35	HP:0002827	Hip dislocation
36	HP:0030043	Hip subluxation
37	HP:0001360	Holoprosencephaly
38	HP:0000238	Hydrocephalus
39	HP:0000126	Hydronephrosis
40	HP:0000752	Hyperactivity
41	HP:0000316	Hypertelorism
42	HP:0001276	Hypertonia
43	HP:0003146	Hypocholesterolemia
44	HP:0002079	Hypoplasia of the corpus callosum
45	HP:0007333	Hypoplasia of the frontal lobes
46	HP:0000047	Hypospadias
47	HP:0001249	Intellectual disability
48	HP:0002566	Intestinal malrotation
49	HP:0001511	Intrauterine growth retardation
50	HP:0000343	Long philtrum
51	HP:0000369	Low-set ears
52	HP:0001840	Metatarsus adductus
53	HP:0000252	Microcephaly
54	HP:0000171	Microglossia
55	HP:0000347	Micrognathia
56	HP:0002983	Micromelia
57	HP:0000054	Micropenis
58	HP:0000341	Narrow forehead
59	HP:0000639	Nystagmus
60	HP:0001845	Overlapping toe
61	HP:0001643	Patent ductus arteriosus
62	HP:0007165	Periventricular heterotopia
63	HP:0002033	Poor suck
64	HP:0001830	Postaxial foot polydactyly
65	HP:0001162	Postaxial hand polydactyly
66	HP:0000358	Posteriorly rotated ears
67	HP:0000826	Precocious puberty
68	HP:0001622	Premature birth
69	HP:0009623	Proximal placement of thumb
70	HP:0000508	Ptosis
71	HP:0002089	Pulmonary hypoplasia
72	HP:0002021	Pyloric stenosis
73	HP:0000403	Recurrent otitis media
74	HP:0000104	Renal agenesis
75	HP:0000107	Renal cyst
76	HP:0000089	Renal hypoplasia
77	HP:0000046	Scrotal hypoplasia
78	HP:0001250	Seizure
79	HP:0000742	Self-mutilation
80	HP:0001153	Septate vagina
81	HP:0007537	Severe photosensitivity
82	HP:0004322	Short stature
83	HP:0009778	Short thumb
84	HP:0001831	Short toe
85	HP:0006979	Sleep-wake cycle disturbance
86	HP:0000486	Strabismus
87	HP:0001884	Talipes calcaneovalgus
88	HP:0000074	Ureteropelvic junction obstruction
89	HP:0001629	Ventricular septal defect
90	HP:0002013	Vomiting
91	HP:0000431	Wide nasal bridge

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_001360.2(DHCR7):c.1426T>C (p.Ter476Gln)	1717	DHCR7	Likely pathogenic	775034584	RCV000169316;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71146423	71146423	NM_001360.2:c.1426T>C	NP_001351.2:p.Ter476Gln	NC_000011.9:g.71146423A>G	-	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys)	1717	DHCR7	Pathogenic	80338864	RCV000020435; RCV000079643;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004; MedGen:CN221809	11	71146507	71146507	NM_001360.2:c.1342G>A	NP_001351.2:p.Glu448Lys	NC_000011.9:g.71146507C>T	HGMD:CM993335,OMIM Allelic Variant:602858.0018	CN221809 not provided; C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser)	1717	DHCR7	Pathogenic	80338862	RCV000020434; RCV000079640;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004; MedGen:CN221809	11	71146621	71146621	NM_001360.2:c.1228G>A	NP_001351.2:p.Gly410Ser	NC_000011.9:g.71146621C>T	HGMD:CM980555	CN221809 not provided; C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys)	1717	DHCR7	Pathogenic	61757582	RCV000007190;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71146639	71146639	NM_001360.2:c.1210C>T	NP_001351.2:p.Arg404Cys	NC_000011.9:g.71146639G>A	OMIM Allelic Variant:602858.0014	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr)	1717	DHCR7	Likely pathogenic	779709646	RCV000169472;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71146710	71146710	NM_001360.2:c.1139G>A	NP_001351.2:p.Cys380Tyr	NC_000011.9:g.71146710C>T	-	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.1055G>A (p.Arg352Gln)	1717	DHCR7	Pathogenic	121909768	RCV000007197;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71146794	71146794	NM_001360.2:c.1055G>A	NP_001351.2:p.Arg352Gln	NC_000011.9:g.71146794C>T	OMIM Allelic Variant:602858.0021	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp)	1717	DHCR7	Pathogenic	80338860	RCV000007189;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71146795	71146795	NM_001360.2:c.1054C>T	NP_001351.2:p.Arg352Trp	NC_000011.9:g.71146795G>A	OMIM Allelic Variant:602858.0013	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu)	1717	DHCR7	Pathogenic	80338859	RCV000007187;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71146873	71146873	NM_001360.2:c.976G>T	NP_001351.2:p.Val326Leu	NC_000011.9:g.71146873C>A	OMIM Allelic Variant:602858.0011	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.964-1G>C	1717	DHCR7	Likely pathogenic;Pathogenic	138659167	RCV000180570; RCV000079661;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004; MedGen:CN221809	11	71146886	71146886	NM_001360.2:c.964-1G>C		NC_000011.9:g.71146886C>G	HGMD:CS982160	CN221809 not provided; C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg)	1717	DHCR7	Pathogenic	142808899	RCV000180217;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71148914	71148914	NM_001360.2:c.907G>A	NP_001351.2:p.Gly303Arg	NC_000011.9:g.71148914C>T	-	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu)	1717	DHCR7	Pathogenic	80338858	RCV000020440;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71148915	71148915	NM_001360.2:c.906C>G	NP_001351.2:p.Phe302Leu	NC_000011.9:g.71148915G>A,NC_000011.9:g.71148915G>C	-	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile)	1717	DHCR7	Pathogenic	121909765	RCV000007191;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71148955	71148955	NM_001360.2:c.866C>T	NP_001351.2:p.Thr289Ile	NC_000011.9:g.71148955G>A	OMIM Allelic Variant:602858.0015	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.841G>A (p.Val281Met)	1717	DHCR7	Pathogenic	398123607	RCV000180218; RCV000079660;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004; MedGen:CN221809	11	71148980	71148980	NM_001360.2:c.841G>A	NP_001351.2:p.Val281Met	NC_000011.9:g.71148980C>T	HGMD:CM000683	CN221809 not provided; C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys)	1717	DHCR7	Pathogenic	121909766	RCV000007192;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71148982	71148982	NM_001360.2:c.839A>G	NP_001351.2:p.Tyr280Cys	NC_000011.9:g.71148982T>C	OMIM Allelic Variant:602858.0016	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.832-1G>C	1717	DHCR7	Pathogenic	80338863	RCV000007178;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71148990	71148990	NM_001360.2:c.832-1G>C		NC_000011.9:g.71148990C>G	OMIM Allelic Variant:602858.0001	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.744G>T (p.Trp248Cys)	1717	DHCR7	Pathogenic	104894212	RCV000007184;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71150012	71150012	NM_001360.2:c.744G>T	NP_001351.2:p.Trp248Cys	NC_000011.9:g.71150012C>A	OMIM Allelic Variant:602858.0008	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg)	1717	DHCR7	Pathogenic	121909764	RCV000007183;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71150026	71150026	NM_001360.2:c.730G>A	NP_001351.2:p.Gly244Arg	NC_000011.9:g.71150026C>T	OMIM Allelic Variant:602858.0006	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.725G>A (p.Arg242His)	1717	DHCR7	Pathogenic	80338857	RCV000020439;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71150031	71150031	NM_001360.2:c.725G>A	NP_001351.2:p.Arg242His	NC_000011.9:g.71150031C>T	-	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.724C>T (p.Arg242Cys)	1717	DHCR7	Pathogenic	80338856	RCV000020438;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71150032	71150032	NM_001360.2:c.724C>T	NP_001351.2:p.Arg242Cys	NC_000011.9:g.71150032G>A	-	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu)	1717	DHCR7	Pathogenic	80338855	RCV000020437;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71152393	71152393	NM_001360.2:c.506C>T	NP_001351.2:p.Ser169Leu	NC_000011.9:g.71152393G>A	-	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg)	1717	DHCR7	Likely pathogenic	143312232	RCV000179381; RCV000153143;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004; MedGen:CN221809	11	71152438	71152438	NM_001360.2:c.461C>G	NP_001351.2:p.Thr154Arg	NC_000011.9:g.71152438G>A,NC_000011.9:g.71152438G>C	HGMD:CM010030	CN221809 not provided; C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.461C>T (p.Thr154Met)	1717	DHCR7	Likely pathogenic	143312232	RCV000169290;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71152438	71152438	NM_001360.2:c.461C>T	NP_001351.2:p.Thr154Met	NC_000011.9:g.71152438G>A,NC_000011.9:g.71152438G>C	-	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.453G>A (p.Trp151Ter)	1717	DHCR7	Pathogenic	104894213	RCV000007186;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71152446	71152446	NM_001360.2:c.453G>A	NP_001351.2:p.Trp151Ter	NC_000011.9:g.71152446C>T	OMIM Allelic Variant:602858.0010	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter)	1717	DHCR7	Pathogenic	11555217	RCV000020436; RCV000079655;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004; MedGen:CN221809	11	71152447	71152447	NM_001360.2:c.452G>A	NP_001351.2:p.Trp151Ter	NC_000011.9:g.71152447C>T	HGMD:CM980546	CN221809 not provided; C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.322_412del	1717	DHCR7	Pathogenic	786200926	RCV000023212;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71153306	71153306	NM_001360.2:c.322_412del		NC_000011.9:g.71153306T>A	OMIM Allelic Variant:602858.0022	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.356A>T (p.His119Leu)	1717	DHCR7	Pathogenic	28938174	RCV000007182;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71153365	71153365	NM_001360.2:c.356A>T	NP_001351.2:p.His119Leu	NC_000011.9:g.71153365T>A	OMIM Allelic Variant:602858.0005	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter)	1717	DHCR7	Likely pathogenic	104886039	RCV000169020;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71155068	71155068	NM_001360.2:c.292C>T	NP_001351.2:p.Gln98Ter	NC_000011.9:g.71155068G>A	-	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.278C>T (p.Thr93Met)	1717	DHCR7	Pathogenic	80338853	RCV000007185; RCV000079651;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004; MedGen:CN221809	11	71155082	71155082	NM_001360.2:c.278C>T	NP_001351.2:p.Thr93Met	NC_000011.9:g.71155082G>A	HGMD:CM980543,OMIM Allelic Variant:602858.0009	CN221809 not provided; C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.151C>T (p.Pro51Ser)	1717	DHCR7	Pathogenic	104886035	RCV000178160; RCV000079646;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004; MedGen:CN221809	11	71155209	71155209	NM_001360.2:c.151C>T	NP_001351.2:p.Pro51Ser	NC_000011.9:g.71155209G>A	HGMD:CM980542	CN221809 not provided; C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.111G>A (p.Trp37Ter)	1717	DHCR7	Likely pathogenic	750345068	RCV000169596;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71155249	71155249	NM_001360.2:c.111G>A	NP_001351.2:p.Trp37Ter	NC_000011.9:g.71155249C>T	-	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.3G>A (p.Met1Ile)	1717	DHCR7	Likely pathogenic;Pathogenic	121909767	RCV000169218;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71155996	71155996	NM_001360.2:c.3G>A	NP_001351.2:p.Met1Ile	NC_000011.9:g.71155996C>T	OMIM Allelic Variant:602858.0017	C0175694 270400 Smith-Lemli-Opitz syndrome
NM_001360.2(DHCR7):c.1A>G (p.Met1Val)	1717	DHCR7	Likely pathogenic;Pathogenic	104886033	RCV000169384;	N	MedGen:C0175694,OMIM:270400,ORPHA:818,SNOMED CT:43929004	11	71155998	71155998	NM_001360.2:c.1A>G	NP_001351.2:p.Met1Val	NC_000011.9:g.71155998T>C	OMIM Allelic Variant:602858.0020	C0175694 270400 Smith-Lemli-Opitz syndrome