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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: Osteochondrodysplasias (D010009)
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
Child Nodes:
Sister Nodes:
..Aldred syndrome (C537046)
..Alstrom Syndrome (D056769)
..Amaurosis hypertrichosis (C536604)
..Bork Stender Schmidt syndrome (C536576)
..Chang Davidson Carlson syndrome (C538075)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..Cone Dystrophy 3 (C566579)
..Cone Dystrophy 4 (C567758)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone rod dystrophy amelogenesis imperfecta (C535976)
..Cone-Rod Dystrophy 1 (C563469)
..Cone-Rod Dystrophy 10 (C564597)
..Cone-Rod Dystrophy 11 (C563671)
..Cone-Rod Dystrophy 12 (C567206)
..Cone-Rod Dystrophy 13 (C567698)
..CONE-ROD DYSTROPHY 2 (OMIM:120970)
..Cone-Rod Dystrophy 3 (C565827)
..Cone-Rod Dystrophy 5 (C563415)
..Cone-Rod Dystrophy 7 (C566350)
..Cone-Rod Dystrophy 8 (C565322)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Flynn Aird syndrome (C537066)
..Furukawa Takagi Nakao syndrome (C538193)
..Hardikar syndrome (C535632)
..Kearns-Sayre Syndrome (D007625) 1
..Leber Congenital Amaurosis 14 (C567636)
..Leber Congenital Amaurosis 3 (C565814)
..Light Fixation Seizure Syndrome (C566367)
..Mainzer-Saldino Disease (C535463)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Neuropathy ataxia and retinis pigmentosa (C537396)
..Newfoundland Rod-Cone Dystrophy (C564391)
..Oculotrichodysplasia (C564934)
..Oliver-McFarlane syndrome (C536554)
..Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..Peripheral Cone Dystrophy (C563813)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Posterior column ataxia with retinitis pigmentosa (C536343)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Retinal cone dystrophy 2 (C538363)
..Retinal Cone Dystrophy 3A (C566483)
..Retinal Cone Dystrophy 3B (C563678)
..Retinal Cone Dystrophy 4 (C566470)
..Retinitis pigmentosa 1 (C538365)
..Retinitis Pigmentosa 10 (C566715)
..Retinitis Pigmentosa 11 (C563991)
..Retinitis Pigmentosa 12 (C563999)
..Retinitis Pigmentosa 13 (C564008)
..Retinitis Pigmentosa 14 (C563992)
..Retinitis Pigmentosa 17 (C563437)
..Retinitis Pigmentosa 18 (C563320)
..Retinitis Pigmentosa 19 (C566637)
..Retinitis Pigmentosa 2 (C567523)
..Retinitis Pigmentosa 20 (C566718)
..Retinitis Pigmentosa 25 (C566425)
..Retinitis Pigmentosa 26 (C564249)
..Retinitis Pigmentosa 27 (C563526)
..Retinitis Pigmentosa 29 (C567403)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 30 (C564310)
..Retinitis Pigmentosa 31 (C563685)
..Retinitis Pigmentosa 32 (C563689)
..Retinitis Pigmentosa 33 (C563676)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 35 (C565206)
..Retinitis Pigmentosa 36 (C566431)
..Retinitis Pigmentosa 37 (C567005)
..Retinitis Pigmentosa 4 (C566706)
..Retinitis Pigmentosa 41 (C567422)
..Retinitis Pigmentosa 42 (C567854)
..Retinitis Pigmentosa 46 (C567249)
..RETINITIS PIGMENTOSA 50 (OMIM:613194)
..RETINITIS PIGMENTOSA 51 (OMIM:613464)
..RETINITIS PIGMENTOSA 54 (OMIM:613428)
..RETINITIS PIGMENTOSA 55 (OMIM:613575)
..RETINITIS PIGMENTOSA 56 (OMIM:613581)
..RETINITIS PIGMENTOSA 57 (OMIM:613582)
..RETINITIS PIGMENTOSA 58 (OMIM:613617)
..Retinitis Pigmentosa 6 (C564065)
..Retinitis Pigmentosa 7 (C564284)
..Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..Retinitis Pigmentosa 7, Digenic (C567263)
..Retinitis Pigmentosa 9 (C566716)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..Retinitis Pigmentosa, Concentric (C567712)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Retinitis Pigmentosa, Late-Adult Onset (C564840)
..Retinitis Pigmentosa, Late-Onset Dominant (C567369)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Retinitis Pigmentosa, Y-Linked (C564035)
..Retinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..RHYNS syndrome (C537612)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Senior-Loken syndrome 4 (C537581)
..Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Tapetoretinal Degeneration with Ataxia (C564788)
..Usher Syndromes (D052245) 19
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10624

Name:

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Definition:

Alternative IDs:

ParentIDs:

MESH:D010009|MESH:D012174

TreeNumbers:

C05.116.099.708/C563825 |C11.270.684/C563825 |C11.768.585.658.500/C563825 |C16.320.290.684/C563825

Synonyms:

SMDCRD

Slim Mappings:

Eye disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C563825
MeSH: C563825
OMIM: 608940;

Genes: PCYT1A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008002	Abnormality of macular pigmentation
3	HP:0001156	Brachydactyly
4	HP:0000548	Cone/cone-rod dystrophy
5	HP:0002812	Coxa vara
6	HP:0000887	Cupped ribs
7	HP:0000689	Dental malocclusion
8	HP:0002980	Femoral bowing
9	HP:0008821	Hypoplastic inferior ilia
10	HP:0001387	Joint stiffness
11	HP:0003021	Metaphyseal cupping
12	HP:0003025	Metaphyseal irregularity
13	HP:0003016	Metaphyseal widening
14	HP:0003375	Narrow greater sciatic notch
15	HP:0000639	Nystagmus
16	HP:0003300	Ovoid vertebral bodies
17	HP:0008897	Postnatal growth retardation
18	HP:0000529	Progressive visual loss
19	HP:0000403	Recurrent otitis media
20	HP:0008905	Rhizomelia
21	HP:0002650	Scoliosis
22	HP:0004565	Severe platyspondyly
23	HP:0009381	Short finger
24	HP:0010049	Short metacarpal
25	HP:0002657	Spondylometaphyseal dysplasia
26	HP:0002982	Tibial bowing

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_005017.3(PCYT1A):c.990delC (p.Ser331Profs)	5130	PCYT1A	Pathogenic	587777193	RCV000087318;	N	MedGen:C1837073,OMIM:608940,ORPHA:85167	3	195965673	195965673	NM_005017.3:c.990delC	NP_005008.2:p.Ser331Profs	NC_000003.11:g.195965673delG	OMIM Allelic Variant:123695.0005	C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy
NM_005017.3(PCYT1A):c.968dupG (p.Ser323Argfs)	5130	PCYT1A	Pathogenic	587777196	RCV000087322;	N	MedGen:C1837073,OMIM:608940,ORPHA:85167	3	195965695	195965695	NM_005017.3:c.968dupG	NP_005008.2:p.Ser323Argfs		OMIM Allelic Variant:123695.0009	C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy
NM_005017.3(PCYT1A):c.847C>T (p.Arg283Ter)	5130	PCYT1A	Pathogenic	587777192	RCV000087317;	N	MedGen:C1837073,OMIM:608940,ORPHA:85167	3	195966468	195966468	NM_005017.3:c.847C>T	NP_005008.2:p.Arg283Ter	NC_000003.11:g.195966468G>A	OMIM Allelic Variant:123695.0004	C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy
NM_005017.3(PCYT1A):c.669G>C (p.Arg223Ser)	5130	PCYT1A	Pathogenic	540053239	RCV000087319;	N	MedGen:C1837073,OMIM:608940,ORPHA:85167	3	195968858	195968858	NM_005017.3:c.669G>C	NP_005008.2:p.Arg223Ser	NC_000003.11:g.195968858C>G	OMIM Allelic Variant:123695.0006	C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy
NM_005017.3(PCYT1A):c.571T>C (p.Phe191Leu)	5130	PCYT1A	Pathogenic	587777195	RCV000087321;	N	MedGen:C1837073,OMIM:608940,ORPHA:85167	3	195968956	195968956	NM_005017.3:c.571T>C	NP_005008.2:p.Phe191Leu	3:g.195968956A>G	OMIM Allelic Variant:123695.0008	C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy
NM_005017.3(PCYT1A):c.448C>G (p.Pro150Ala)	5130	PCYT1A	Pathogenic	587777190	RCV000087315;	N	MedGen:C1837073,OMIM:608940,ORPHA:85167	3	195974276	195974276	NM_005017.3:c.448C>G	NP_005008.2:p.Pro150Ala	3:g.195974276G>C	OMIM Allelic Variant:123695.0002	C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy
NM_005017.3(PCYT1A):c.385G>A (p.Glu129Lys)	5130	PCYT1A	Pathogenic	587777194	RCV000087320;	N	MedGen:C1837073,OMIM:608940,ORPHA:85167	3	195974339	195974339	NM_005017.3:c.385G>A	NP_005008.2:p.Glu129Lys	3:g.195974339C>T	OMIM Allelic Variant:123695.0007	C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy
NM_005017.3(PCYT1A):c.296C>T (p.Ala99Val)	5130	PCYT1A	Pathogenic	587777189	RCV000087314;	N	MedGen:C1837073,OMIM:608940,ORPHA:85167	3	195975116	195975116	NM_005017.3:c.296C>T	NP_005008.2:p.Ala99Val	NC_000003.11:g.195975116G>A	OMIM Allelic Variant:123695.0001	C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy
NM_005017.3(PCYT1A):c.295G>A (p.Ala99Thr)	5130	PCYT1A	Pathogenic	587777191	RCV000087316;	N	MedGen:C1837073,OMIM:608940,ORPHA:85167	3	195975117	195975117	NM_005017.3:c.295G>A	NP_005008.2:p.Ala99Thr	3:g.195975117C>T	OMIM Allelic Variant:123695.0003	C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy