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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: Ophthalmoplegia, Chronic Progressive External (D017246)
Parent Node: Scoliosis (D012600)
..Starting node ..Gaze Palsy, Familial Horizontal, with Progressive Scoliosis (C564593)
Child Nodes:
Sister Nodes:
..Acrodysplasia scoliosis (C538180)
..Cervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..Coffin syndrome 1 (C536435)
..Daish Hardman Lamont syndrome (C535770)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Gaze Palsy, Familial Horizontal, with Progressive Scoliosis (C564593)
..Iida Kannari syndrome (C536284)
..Kyphoscoliosis 1 (C565711)
..Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..Omphalocele exstrophy imperforate anus (C537748)
..Parastremmatic dwarfism (C537172)
..Pilotto syndrome (C537400)
..Prata Libéral Gonçalves syndrome (C538277)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..Rigid spine syndrome (C535683)
..Scoliosis, Arachnodactyly, And Blindness (C567309)
..SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (OMIM:181800)
..SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2 (OMIM:607354)
..SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3 (OMIM:608765)
..SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4 (OMIM:612238)
..SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5 (OMIM:612239)
..Shprintzen omphalocele syndrome (C537329)
..Spondylocarpotarsal synostosis (C535780)
..Tsukahara Syndrome (C566376)
..Waaler Aarskog syndrome (C536461)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4541

Name:

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis

Definition:

Alternative IDs:

OMIM:607313

ParentIDs:

MESH:D012600|MESH:D017246

TreeNumbers:

C05.116.900.800.875/C564593 |C05.651.460.700/C564593 |C10.292.562.750.250/C564593 |C10.292.562.775/C564593 |C10.597.622.447.511/C564593 |C10.668.491.500.700/C564593 |C11.590.472.250/C564593 |C11.590.641/C564593 |C18.452.660.560.700/C564593 |C23.888.592.636.447.51

Synonyms:

Familial Horizontal Gaze Palsy with Progressive Scoliosis |Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy |Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze |Hgpps |Horizontal Gaze Palsy with Progress

Slim Mappings:

Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564593
MeSH: C564593
OMIM: 607313;

Genes: ROBO3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0007817	Horizontal supranuclear gaze palsy
4	HP:0007650	Progressive ophthalmoplegia
5	HP:0002944	Thoracolumbar scoliosis

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_022370.3(ROBO3):c.14T>C (p.Leu5Pro)	64221	ROBO3	Pathogenic	121918275	RCV000002263;	N	MedGen:C1846496,OMIM:607313,ORPHA:2744	11	124735487	124735487	NM_022370.3:c.14T>C	NP_071765.2:p.Leu5Pro	NC_000011.9:g.124735487T>C	OMIM Allelic Variant:608630.0008	C1846496 607313 Gaze palsy, familial horizontal, with progressive scoliosis
NM_022370.3(ROBO3):c.196A>C (p.Ile66Leu)	64221	ROBO3	Pathogenic	121918276	RCV000002264;	N	MedGen:C1846496,OMIM:607313,ORPHA:2744	11	124738733	124738733	NM_022370.3:c.196A>C	NP_071765.2:p.Ile66Leu	NC_000011.9:g.124738733A>C	OMIM Allelic Variant:608630.0009	C1846496 607313 Gaze palsy, familial horizontal, with progressive scoliosis
NM_022370.3(ROBO3):c.733C>T (p.Arg245Trp)	64221	ROBO3	Pathogenic	121918277	RCV000002268;	N	MedGen:C1846496,OMIM:607313,ORPHA:2744	11	124739931	124739931	NM_022370.3:c.733C>T	NP_071765.2:p.Arg245Trp	NC_000011.9:g.124739931C>T	OMIM Allelic Variant:608630.0013	C1846496 607313 Gaze palsy, familial horizontal, with progressive scoliosis
NM_022370.3(ROBO3):c.955G>A (p.Glu319Lys)	64221	ROBO3	Pathogenic	121918274	RCV000002261;	N	MedGen:C1846496,OMIM:607313,ORPHA:2744	11	124740546	124740546	NM_022370.3:c.955G>A	NP_071765.2:p.Glu319Lys	NC_000011.9:g.124740546G>A	OMIM Allelic Variant:608630.0006	C1846496 607313 Gaze palsy, familial horizontal, with progressive scoliosis
NM_022370.3(ROBO3):c.1082G>A (p.Gly361Glu)	64221	ROBO3	Pathogenic	121918270	RCV000002256;	N	MedGen:C1846496,OMIM:607313,ORPHA:2744	11	124740958	124740958	NM_022370.3:c.1082G>A	NP_071765.2:p.Gly361Glu	NC_000011.9:g.124740958G>A	OMIM Allelic Variant:608630.0001	C1846496 607313 Gaze palsy, familial horizontal, with progressive scoliosis
NM_022370.3(ROBO3):c.1366G>T (p.Gly456Ter)	64221	ROBO3	Pathogenic	121918273	RCV000002260;	N	MedGen:C1846496,OMIM:607313,ORPHA:2744	11	124742815	124742815	NM_022370.3:c.1366G>T	NP_071765.2:p.Gly456Ter	NC_000011.9:g.124742815G>T	OMIM Allelic Variant:608630.0005	C1846496 607313 Gaze palsy, familial horizontal, with progressive scoliosis
NM_022370.3(ROBO3):c.2108G>C (p.Arg703Pro)	64221	ROBO3	Pathogenic	121918271	RCV000002258;	N	MedGen:C1846496,OMIM:607313,ORPHA:2744	11	124745041	124745041	NM_022370.3:c.2108G>C	NP_071765.2:p.Arg703Pro	NC_000011.9:g.124745041G>C	OMIM Allelic Variant:608630.0003	C1846496 607313 Gaze palsy, familial horizontal, with progressive scoliosis
NM_022370.3(ROBO3):c.2113T>C (p.Ser705Pro)	64221	ROBO3	Pathogenic	121918272	RCV000002259;	N	MedGen:C1846496,OMIM:607313,ORPHA:2744	11	124745046	124745046	NM_022370.3:c.2113T>C	NP_071765.2:p.Ser705Pro	NC_000011.9:g.124745046T>C	OMIM Allelic Variant:608630.0004	C1846496 607313 Gaze palsy, familial horizontal, with progressive scoliosis
NM_022370.3(ROBO3):c.2317C>T (p.Gln773Ter)	64221	ROBO3	Pathogenic	121918278	RCV000002269;	N	MedGen:C1846496,OMIM:607313,ORPHA:2744	11	124745477	124745477	NM_022370.3:c.2317C>T	NP_071765.2:p.Gln773Ter	NC_000011.9:g.124745477C>T	OMIM Allelic Variant:608630.0014	C1846496 607313 Gaze palsy, familial horizontal, with progressive scoliosis