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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

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

Disease Browser
Parent Node: Muscular Dystrophies (D009136)
Parent Node: Scoliosis (D012600)
..Starting node ..Rigid spine syndrome (C535683)
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:

9872

Name:

Rigid spine syndrome

Definition:

Alternative IDs:

OMIM:602771

ParentIDs:

MESH:D009136|MESH:D012600

TreeNumbers:

C05.116.900.800.875/C535683 |C05.651.534.500/C535683 |C10.668.491.175.500/C535683 |C16.320.577/C535683

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C535683
MeSH: C535683
OMIM: 602771;

Genes: SEPN1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001547	Abnormal rib cage morphology
4	HP:0003327	Axial muscle weakness
5	HP:0010628	Facial palsy
6	HP:0001508	Failure to thrive
7	HP:0001371	Flexion contracture
8	HP:0003700	Generalized amyotrophy
9	HP:0001290	Generalized hypotonia
10	HP:0003324	Generalized muscle weakness
11	HP:0000218	High palate
12	HP:0001620	High pitched voice
13	HP:0001252	Hypotonia
14	HP:0003557	Increased variability in muscle fiber diameter
15	HP:0005991	Limited neck flexion
16	HP:0001270	Motor delay
17	HP:0003560	Muscular dystrophy
18	HP:0001611	Nasal speech
19	HP:0002877	Nocturnal hypoventilation
20	HP:0003680	Nonprogressive
21	HP:0002111	obsolete Restrictive deficit on pulmonary function testing
22	HP:0002421	Poor head control
23	HP:0002792	Reduced vital capacity
24	HP:0002650	Scoliosis
25	HP:0004322	Short stature
26	HP:0003306	Spinal rigidity
27	HP:0003787	Type 1 and type 2 muscle fiber minicore regions

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_020451.2(SEPN1):c.1A>G (p.Met1Val)	57190	SEPN1	Pathogenic	121908184	RCV000004748;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	1	26126722	26126722	NM_020451.2:c.1A>G	NP_065184.2:p.Met1Val	NC_000001.10:g.26126722A>G	OMIM Allelic Variant:606210.0003	C0410180 602771 Eichsfeld type congenital muscular dystrophy
NM_020451.2(SEPN1):c.13_22dupCGGCCGGGCC (p.Gln8Profs)	57190	SEPN1	Pathogenic	797044621	RCV000173501;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	1	26126734	26126743	NM_020451.2:c.13_22dupCGGCCGGGCC	NP_065184.2:p.Gln8Profs	NC_000001.10:g.26126734_26126743dupCGGCCGGGCC	-	C0410180 602771 Eichsfeld type congenital muscular dystrophy
NM_020451.2(SEPN1):c.44_72dup29 (p.Arg25Alafs)	57190	SEPN1	Pathogenic	797044620	RCV000173498;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	1	26126765	26126793	NM_020451.2:c.44_72dup29	NP_065184.2:p.Arg25Alafs	NC_000001.10:g.26126765_26126793dup29	-	C0410180 602771 Eichsfeld type congenital muscular dystrophy
NM_020451.2(SEPN1):c.301+1G>T	57190	SEPN1	Pathogenic	398124360	RCV000175927; RCV000082015;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002; MedGen:CN221809	1	26127652	26127652	NM_020451.2:c.301+1G>T		NC_000001.10:g.26127652G>T	-	C0410180 602771 Eichsfeld type congenital muscular dystrophy; CN221809 not provided
NM_020451.2(SEPN1):c.713dupA (p.Asn238Lysfs)	57190	SEPN1	Pathogenic	368104077	RCV000004751; RCV000178976;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002; MedGen:C0546264,OMIM:255310,ORPHA:2020,SNOMED CT:240084007	1	26135246	26135246	NM_020451.2:c.713dupA	NP_065184.2:p.Asn238Lysfs	NC_000001.10:g.26135246dupA	OMIM Allelic Variant:606210.0006	C0546264 255310 Congenital myopathy with fiber type disproportion; C0410180 602771 Eichsfeld type congenital muscular dystrophy
NM_020451.2(SEPN1):c.818G>A (p.Gly273Glu)	57190	SEPN1	Pathogenic	121908182	RCV000004746;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	1	26135587	26135587	NM_020451.2:c.818G>A	NP_065184.2:p.Gly273Glu	NC_000001.10:g.26135587G>A	OMIM Allelic Variant:606210.0001	C0410180 602771 Eichsfeld type congenital muscular dystrophy
NM_020451.2(SEPN1):c.872+2T>C	57190	SEPN1	Pathogenic	794727808	RCV000179511; RCV000179510;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002; MedGen:C0546264,OMIM:255310,ORPHA:2020,SNOMED CT:240084007	1	26135643	26135643	NM_020451.2:c.872+2T>C		NC_000001.10:g.26135643T>C	-	C0546264 255310 Congenital myopathy with fiber type disproportion; C0410180 602771 Eichsfeld type congenital muscular dystrophy
NM_020451.2(SEPN1):c.943G>A (p.Gly315Ser)	57190	SEPN1	Pathogenic	121908188	RCV000004753; RCV000004754; RCV000082020;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002; MedGen:C0546264,OMIM:255310,ORPHA:2020,SNOMED CT:240084007; MedGen:CN221809	1	26136244	26136244	NM_020451.2:c.943G>A	NP_065184.2:p.Gly315Ser	NC_000001.10:g.26136244G>A	HGMD:CM022836,OMIM Allelic Variant:606210.0008	C0546264 255310 Congenital myopathy with fiber type disproportion; C0410180 602771 Eichsfeld type congenital muscular dystrophy; CN221809 not provided
NM_020451.2(SEPN1):c.1096G>T (p.Glu366Ter)	57190	SEPN1	Pathogenic	794727976	RCV000180670;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	1	26138185	26138185	NM_020451.2:c.1096G>T	NP_065184.2:p.Glu366Ter	NC_000001.10:g.26138185G>T	-	C0410180 602771 Eichsfeld type congenital muscular dystrophy
NM_020451.2(SEPN1):c.1315C>T (p.Arg439Ter)	57190	SEPN1	Pathogenic	377215510	RCV000173886; RCV000082011;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002; MedGen:CN221809	1	26139211	26139211	NM_020451.2:c.1315C>T	NP_065184.2:p.Arg439Ter	NC_000001.10:g.26139211C>T	HGMD:CM050744	C0410180 602771 Eichsfeld type congenital muscular dystrophy; CN221809 not provided
NM_020451.2(SEPN1):c.1358G>C (p.Trp453Ser)	57190	SEPN1	Pathogenic	121908186	RCV000004750;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	1	26139254	26139254	NM_020451.2:c.1358G>C	NP_065184.2:p.Trp453Ser	NC_000001.10:g.26139254G>C	OMIM Allelic Variant:606210.0005	C0410180 602771 Eichsfeld type congenital muscular dystrophy
NM_020451.2(SEPN1):c.1384T>G (p.Sec462Gly)	57190	SEPN1	Pathogenic	121908187	RCV000004752;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	1	26139280	26139280	NM_020451.2:c.1384T>G	NP_065184.2:p.Sec462Gly	NC_000001.10:g.26139280T>G	OMIM Allelic Variant:606210.0007	C0410180 602771 Eichsfeld type congenital muscular dystrophy
NM_020451.2(SEPN1):c.1385G>A (p.Sec462=)	57190	SEPN1	Pathogenic	587776597	RCV000004747;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	1	26139281	26139281	NM_020451.2:c.1385G>A	NP_065184.2:p.Sec462=	1:g.26139281G>A	OMIM Allelic Variant:606210.0002	C0410180 602771 Eichsfeld type congenital muscular dystrophy
NM_020451.2(SEPN1):c.1397G>A (p.Arg466Gln)	57190	SEPN1	Pathogenic	121908185	RCV000004749;	N	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	1	26140381	26140381	NM_020451.2:c.1397G>A	NP_065184.2:p.Arg466Gln	NC_000001.10:g.26140381G>A	OMIM Allelic Variant:606210.0004	C0410180 602771 Eichsfeld type congenital muscular dystrophy