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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: Cleft Palate (D002972)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Hypertelorism (D006972)
Parent Node: Hypospadias (D007021)
..Starting node ..Opitz GBBB Syndrome, X-Linked (C567932)
Child Nodes:
Sister Nodes:
..Anal Atresia, Hypospadias, and Penoscrotal Inversion (C566526)
..Hypertelorism with esophageal abnormality and hypospadias (C538387)
..Hypospadias 1, X-Linked (C567482)
..Hypospadias 2, X-Linked (C567462)
..Hypospadias 3, Autosomal (C567191)
..HYPOSPADIAS 4, X-LINKED, SUSCEPTIBILITY TO (OMIM:300856)
..Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Naguib-Richieri-Costa syndrome (C538332)
..Opitz GBBB Syndrome, X-Linked (C567932)
..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Radial hypoplasia, triphalangeal thumbs and hypospadias (C536262)
..Radius absent anogenital anomalies (C535281)
..Scalp ear nipple syndrome (C536623)
..Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias (C563509)
..Stratton-Parker Syndrome (C566105)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8264

Name:

Opitz GBBB Syndrome, X-Linked

Definition:

Alternative IDs:

OMIM:300000

ParentIDs:

MESH:D002972|MESH:D006972|MESH:D007021|MESH:D040181

TreeNumbers:

C05.116.099.370.231.480/C567932 |C05.500.460.185/C567932 |C05.660.207.231.480/C567932 |C05.660.207.540.460.185/C567932 |C07.320.440.185/C567932 |C07.465.525.185/C567932 |C07.650.500.460.185/C567932 |C07.650.525.185/C567932 |C12.294.494.400/C567932 |C12.706.516/C5

Synonyms:

Slim Mappings:

Reference:

MedGen: C567932
MeSH: C567932
OMIM: 300000;

Genes: MID1;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001627	Abnormal heart morphology
3	HP:0001739	Abnormal nasopharynx morphology
4	HP:0030680	Abnormality of cardiovascular system morphology
5	HP:0001274	Agenesis of corpus callosum
6	HP:0002023	Anal atresia
7	HP:0000463	Anteverted nares
8	HP:0002835	Aspiration
9	HP:0000175	Cleft palate
10	HP:0000204	Cleft upper lip
11	HP:0000028	Cryptorchidism
12	HP:0002015	Dysphagia
13	HP:0002007	Frontal bossing
14	HP:0002020	Gastroesophageal reflux
15	HP:0001263	Global developmental delay
16	HP:0001425	Heterogeneous
17	HP:0000218	High palate
18	HP:0000316	Hypertelorism
19	HP:0000047	Hypospadias
20	HP:0006783	Posterior pharyngeal cleft
21	HP:0011220	Prominent forehead
22	HP:0000319	Smooth philtrum
23	HP:0000506	Telecanthus
24	HP:0000219	Thin upper lip vermilion
25	HP:0000431	Wide nasal bridge
26	HP:0000349	Widow's peak

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_033290.3(MID1):c.1877T>C (p.Leu626Pro)	4281	MID1	Pathogenic	28934611	RCV000011555;	N	MedGen:C0175696,OMIM:300000,SNOMED CT:81771002	X	10417535	10417535	NM_033290.3:c.1877T>C	NP_150632.1:p.Leu626Pro	NC_000023.10:g.10417535A>G	OMIM Allelic Variant:300552.0004	C0175696 300000 Opitz-Frias syndrome
NM_033290.3(MID1):c.1798dupC (p.His600Profs)	4281	MID1	Pathogenic	398123342	RCV000173680; RCV000078678;	N	MedGen:C0175696,OMIM:300000,SNOMED CT:81771002; MedGen:CN221809	X	10417614	10417614	NM_033290.3:c.1798dupC	NP_150632.1:p.His600Profs	NC_000023.10:g.10417614dupG	HGMD:CI067580	CN221809 not provided; C0175696 300000 Opitz-Frias syndrome
NM_033290.3(MID1):c.1447_1447+1insAACA	4281	MID1	Pathogenic	797044786	RCV000180149;	N	MedGen:C0175696,OMIM:300000,SNOMED CT:81771002	X	10427685	10427686	NM_033290.3:c.1447_1447+1insAACA		NC_000023.10:g.10427685_10427686insTGTT	-	C0175696 300000 Opitz-Frias syndrome
NM_000381.3(MID1):c.1302_1305dupTGAT (p.Ser436Terfs)	4281	MID1	Pathogenic	786200982	RCV000180150; RCV000153501;	N	MedGen:C0175696,OMIM:300000,SNOMED CT:81771002; MedGen:CN221809	X	10427828	10427831	NM_000381.3:c.1302_1305dupTGAT	NP_000372.1:p.Ser436Terfs	NC_000023.10:g.10427827_10427828insATCA,NC_000023.10:g.10427828_10427831dupATCA	-	CN221809 not provided; C0175696 300000 Opitz-Frias syndrome
NM_033290.3(MID1):c.884T>C (p.Leu295Pro)	4281	MID1	Pathogenic	104894866	RCV000011558;	N	MedGen:C0175696,OMIM:300000,SNOMED CT:81771002	X	10450649	10450649	NM_033290.3:c.884T>C	NP_150632.1:p.Leu295Pro	NC_000023.10:g.10450649A>G	OMIM Allelic Variant:300552.0007	C0175696 300000 Opitz-Frias syndrome
NM_033290.3(MID1):c.783delA (p.Lys261Asnfs)	4281	MID1	Pathogenic	398123343	RCV000178081; RCV000078682;	N	MedGen:C0175696,OMIM:300000,SNOMED CT:81771002; MedGen:CN221809	X	10463705	10463705	NM_033290.3:c.783delA	NP_150632.1:p.Lys261Asnfs	NC_000023.10:g.10463705delT	-	CN221809 not provided; C0175696 300000 Opitz-Frias syndrome
NM_033290.3(MID1):c.712G>T (p.Glu238Ter)	4281	MID1	Pathogenic	387906719	RCV000022867;	N	MedGen:C0175696,OMIM:300000,SNOMED CT:81771002	X	10491176	10491176	NM_033290.3:c.712G>T	NP_150632.1:p.Glu238Ter	NC_000023.10:g.10491176C>A	OMIM Allelic Variant:300552.0009	C0175696 300000 Opitz-Frias syndrome
NM_033290.3(MID1):c.343G>T (p.Glu115Ter)	4281	MID1	Pathogenic	104894865	RCV000011556;	N	MedGen:C0175696,OMIM:300000,SNOMED CT:81771002	X	10535245	10535245	NM_033290.3:c.343G>T	NP_150632.1:p.Glu115Ter	NC_000023.10:g.10535245C>A	OMIM Allelic Variant:300552.0005	C0175696 300000 Opitz-Frias syndrome