MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Osteochondrodysplasias (D010009)
Parent Node:
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Retinitis Pigmentosa (D012174)
..Starting node
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Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)

       Child Nodes:



 Sister Nodes: 
..expandAldred syndrome (C537046)
..expandAlstrom Syndrome (D056769)
..expandAmaurosis hypertrichosis (C536604)
..expandBardet-Biedl Syndrome (D020788) Child13
..expandBork Stender Schmidt syndrome (C536576)
..expandChang Davidson Carlson syndrome (C538075)
..expandChromosome Xp11.3 Deletion Syndrome (C564481)
..expandCone Dystrophy 3 (C566579)
..expandCone Dystrophy 4 (C567758)
..expandCone Dystrophy, X-Linked, 1 (C564439)
..expandCone dystrophy, x-linked, with tapetal-like sheen (C535975)
..expandCone rod dystrophy amelogenesis imperfecta (C535976)
..expandCone-Rod Dystrophy 1 (C563469)
..expandCone-Rod Dystrophy 10 (C564597)
..expandCone-Rod Dystrophy 11 (C563671)
..expandCone-Rod Dystrophy 12 (C567206)
..expandCone-Rod Dystrophy 13 (C567698)
..expandCONE-ROD DYSTROPHY 16 (OMIM:614500)
..expandCONE-ROD DYSTROPHY 18 (OMIM:615374)
..expandCONE-ROD DYSTROPHY 19 (OMIM:615860)
..expandCONE-ROD DYSTROPHY 2 (OMIM:120970)
..expandCONE-ROD DYSTROPHY 20 (OMIM:615973)
..expandCONE-ROD DYSTROPHY 21 (OMIM:616502)
..expandCone-Rod Dystrophy 3 (C565827)
..expandCone-Rod Dystrophy 5 (C563415)
..expandCone-Rod Dystrophy 7 (C566350)
..expandCone-Rod Dystrophy 8 (C565322)
..expandCONE-ROD DYSTROPHY AND HEARING LOSS (OMIM:617236)
..expandCone-Rod Dystrophy, X-Linked, 2 (C564717)
..expandCone-Rod Dystrophy, X-Linked, 3 (C564507)
..expandCone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..expandCutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..expandDeafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..expandFlynn Aird syndrome (C537066)
..expandFurukawa Takagi Nakao syndrome (C538193)
..expandHardikar syndrome (C535632)
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeber Congenital Amaurosis 14 (C567636)
..expandLeber Congenital Amaurosis 3 (C565814)
..expandLight Fixation Seizure Syndrome (C566367)
..expandMACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..expandMainzer-Saldino Disease (C535463)
..expandMeckel syndrome type 1 (C536133)
..expandMental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..expandMetaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..expandMicrocephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..expandMICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..expandMicrophthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..expandMirhosseini-Holmes-Walton syndrome (C538367)
..expandMuscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..expandNeuropathy ataxia and retinitis pigmentosa (C537396)  LSDB  L: 00168;
..expandNewfoundland Rod-Cone Dystrophy (C564391)
..expandOculotrichodysplasia (C564934)
..expandOliver-McFarlane syndrome (C536554)
..expandPallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..expandPeripheral Cone Dystrophy (C563813)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPosterior column ataxia with retinitis pigmentosa (C536343)
..expandRadioulnar synostosis retinal pigment abnormalities (C536270)
..expandRetinal cone dystrophy 2 (C538363)
..expandRetinal Cone Dystrophy 3A (C566483)
..expandRetinal Cone Dystrophy 3B (C563678)
..expandRetinal Cone Dystrophy 4 (C566470)
..expandRetinitis pigmentosa 1 (C538365)
..expandRetinitis Pigmentosa 10 (C566715)
..expandRetinitis Pigmentosa 11 (C563991)
..expandRetinitis Pigmentosa 12 (C563999)
..expandRetinitis Pigmentosa 13 (C564008)
..expandRetinitis Pigmentosa 14 (C563992)
..expandRetinitis Pigmentosa 17 (C563437)
..expandRetinitis Pigmentosa 18 (C563320)
..expandRetinitis Pigmentosa 19 (C566637)
..expandRetinitis Pigmentosa 2 (C567523)
..expandRetinitis Pigmentosa 20 (C566718)
..expandRETINITIS PIGMENTOSA 22 (OMIM:602594)
..expandRETINITIS PIGMENTOSA 23 (OMIM:300424)
..expandRETINITIS PIGMENTOSA 24 (OMIM:300155)
..expandRetinitis Pigmentosa 25 (C566425)
..expandRetinitis Pigmentosa 26 (C564249)
..expandRetinitis Pigmentosa 27 (C563526)
..expandRETINITIS PIGMENTOSA 28 (OMIM:606068)
..expandRetinitis Pigmentosa 29 (C567403)
..expandRetinitis Pigmentosa 3 (C564520)
..expandRetinitis Pigmentosa 30 (C564310)
..expandRetinitis Pigmentosa 31 (C563685)
..expandRetinitis Pigmentosa 32 (C563689)
..expandRetinitis Pigmentosa 33 (C563676)
..expandRetinitis Pigmentosa 34 (C564475)
..expandRetinitis Pigmentosa 35 (C565206)
..expandRetinitis Pigmentosa 36 (C566431)
..expandRetinitis Pigmentosa 37 (C567005)
..expandRETINITIS PIGMENTOSA 38 (OMIM:613862)
..expandRETINITIS PIGMENTOSA 39 (OMIM:613809)
..expandRetinitis Pigmentosa 4 (C566706)
..expandRETINITIS PIGMENTOSA 40 (OMIM:613801)
..expandRetinitis Pigmentosa 41 (C567422)
..expandRetinitis Pigmentosa 42 (C567854)
..expandRETINITIS PIGMENTOSA 43 (OMIM:613810)
..expandRETINITIS PIGMENTOSA 44 (OMIM:613769)
..expandRETINITIS PIGMENTOSA 45 (OMIM:613767)
..expandRetinitis Pigmentosa 46 (C567249)
..expandRETINITIS PIGMENTOSA 47 (OMIM:613758)
..expandRETINITIS PIGMENTOSA 48 (OMIM:613827)
..expandRETINITIS PIGMENTOSA 49 (OMIM:613756)
..expandRETINITIS PIGMENTOSA 50 (OMIM:613194)
..expandRETINITIS PIGMENTOSA 51 (OMIM:613464)
..expandRETINITIS PIGMENTOSA 54 (OMIM:613428)
..expandRETINITIS PIGMENTOSA 55 (OMIM:613575)
..expandRETINITIS PIGMENTOSA 56 (OMIM:613581)
..expandRETINITIS PIGMENTOSA 57 (OMIM:613582)
..expandRETINITIS PIGMENTOSA 58 (OMIM:613617)
..expandRETINITIS PIGMENTOSA 59 (OMIM:613861)
..expandRetinitis Pigmentosa 6 (C564065)
..expandRETINITIS PIGMENTOSA 60 (OMIM:613983)
..expandRETINITIS PIGMENTOSA 61 (OMIM:614180)
..expandRETINITIS PIGMENTOSA 62 (OMIM:614181)
..expandRETINITIS PIGMENTOSA 66 (OMIM:615233)
..expandRETINITIS PIGMENTOSA 67 (OMIM:615565)
..expandRETINITIS PIGMENTOSA 68 (OMIM:615725)
..expandRETINITIS PIGMENTOSA 69 (OMIM:615780)
..expandRetinitis Pigmentosa 7 (C564284)
..expandRetinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..expandRetinitis Pigmentosa 7, Digenic (C567263)
..expandRETINITIS PIGMENTOSA 70 (OMIM:615922)
..expandRETINITIS PIGMENTOSA 71 (OMIM:616394)
..expandRETINITIS PIGMENTOSA 72 (OMIM:616469)
..expandRETINITIS PIGMENTOSA 73 (OMIM:616544)
..expandRETINITIS PIGMENTOSA 74 (OMIM:616562)
..expandRETINITIS PIGMENTOSA 75 (OMIM:617023)
..expandRETINITIS PIGMENTOSA 76 (OMIM:617123)
..expandRETINITIS PIGMENTOSA 77 (OMIM:617304)
..expandRETINITIS PIGMENTOSA 78 (OMIM:617433)
..expandRETINITIS PIGMENTOSA 79 (OMIM:617460)
..expandRETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
..expandRetinitis Pigmentosa 9 (C566716)
..expandRETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
..expandRetinitis Pigmentosa Inversa with Deafness (C564842)
..expandRetinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..expandRetinitis Pigmentosa, Concentric (C567712)
..expandRetinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..expandRetinitis Pigmentosa, Late-Adult Onset (C564840)
..expandRetinitis Pigmentosa, Late-Onset Dominant (C567369)
..expandRetinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..expandRetinitis Pigmentosa, Y-Linked (C564035)
..expandRetinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..expandRhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..expandRHYNS syndrome (C537612)
..expandRod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..expandSenior-Loken syndrome 4 (C537581)
..expandSkeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..expandSpastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..expandSpondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..expandTapetoretinal Degeneration with Ataxia (C564788)
..expandUsher Syndromes (D052245) Child19  LSDB  L: 00160;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11667
Name:Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Definition:
Alternative IDs:OMIM:608940
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 |C16.320.728/C563825
Synonyms:SMDCRD
Slim Mappings:Eye disease|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: C563825
MeSH: C563825
OMIM: 608940;
MSeqDR LSDB:  
Genes: PCYT1A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0008002Abnormality of macular pigmentation
3 HP:0001156Brachydactyly
4 HP:0000548Cone/cone-rod dystrophy
5 HP:0002812Coxa vara
6 HP:0000887Cupped ribs
7 HP:0000689Dental malocclusion
8 HP:0002980Femoral bowing
9 HP:0008821Hypoplastic inferior ilia
10 HP:0001387Joint stiffness
11 HP:0003021Metaphyseal cupping
12 HP:0003025Metaphyseal irregularity
13 HP:0003016Metaphyseal widening
14 HP:0003375Narrow greater sacrosciatic notches
15 HP:0000639Nystagmus
16 HP:0003300Ovoid vertebral bodies
17 HP:0008897Postnatal growth retardation
18 HP:0000529Progressive visual loss
19 HP:0000403Recurrent otitis media
20 HP:0008905Rhizomelia
21 HP:0002650Scoliosis
22 HP:0004565Severe platyspondyly Childhood onset
23 HP:0009381Short finger
24 HP:0010049Short metacarpal
25 HP:0002657Spondylometaphyseal dysplasia
26 HP:0002982Tibial bowing
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001312673.2(PCYT1A):c.990del (p.Ser331fs)5130PCYT1AConflicting interpretations of pathogenicityrs587777193RCV000087318|RCV001233915; NMONDO:MONDO:0012160,MedGen:C1837073,OMIM:608940, Orphanet:85167|MedGen:CN5172023195965673195965673AGA3:g.195965673_195965673delClinGen:CA214466,OMIM:123695.0005C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy;
NM_001312673.2(PCYT1A):c.968dup (p.Ser323fs)5130PCYT1APathogenicrs587777196RCV000087322|RCV001090772; NMONDO:MONDO:0012160,MedGen:C1837073,OMIM:608940, Orphanet:85167|MedGen:CN5172023195965694195965695GGC3:g.195965694_195965695insCClinGen:CA214470,OMIM:123695.0009C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy;
NM_001312673.2(PCYT1A):c.847C>T (p.Arg283Ter)5130PCYT1APathogenicrs587777192RCV000087317; NMONDO:MONDO:0012160,MedGen:C1837073,OMIM:608940, Orphanet:851673195966468195966468GA3:g.195966468G>AClinGen:CA214464,OMIM:123695.0004C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy;
NM_001312673.2(PCYT1A):c.669G>C (p.Arg223Ser)5130PCYT1APathogenicrs540053239RCV000087319; NMONDO:MONDO:0012160,MedGen:C1837073,OMIM:608940, Orphanet:851673195968858195968858CG3:g.195968858C>GClinGen:CA214467,UniProtKB:P49585#VAR_071088,OMIM:123695.0006C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy;
NM_001312673.2(PCYT1A):c.571T>C (p.Phe191Leu)5130PCYT1APathogenicrs587777195RCV000087321; NMONDO:MONDO:0012160,MedGen:C1837073,OMIM:608940, Orphanet:851673195968956195968956AG3:g.195968956A>GClinGen:CA214469,UniProtKB:P49585#VAR_071087,OMIM:123695.0008C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy;
NM_001312673.2(PCYT1A):c.448C>G (p.Pro150Ala)5130PCYT1APathogenicrs587777190RCV000087315; NMONDO:MONDO:0012160,MedGen:C1837073,OMIM:608940, Orphanet:851673195974276195974276GC3:g.195974276G>CClinGen:CA214462,UniProtKB:P49585#VAR_071086,OMIM:123695.0002C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy;
NM_001312673.2(PCYT1A):c.385G>A (p.Glu129Lys)5130PCYT1APathogenicrs587777194RCV000087320; NMONDO:MONDO:0012160,MedGen:C1837073,OMIM:608940, Orphanet:851673195974339195974339CT3:g.195974339C>TClinGen:CA214468,UniProtKB:P49585#VAR_071085,OMIM:123695.0007C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy;
NM_001312673.2(PCYT1A):c.296C>T (p.Ala99Val)5130PCYT1APathogenicrs587777189RCV000087314|RCV000622339; NMONDO:MONDO:0012160,MedGen:C1837073,OMIM:608940, Orphanet:85167|MeSH:D030342,MedGen:C09501233195975116195975116GA3:g.195975116G>AClinGen:CA214461,UniProtKB:P49585#VAR_071084,OMIM:123695.0001C0950123 Inborn genetic diseases;
NM_001312673.2(PCYT1A):c.295G>A (p.Ala99Thr)5130PCYT1APathogenicrs587777191RCV000087316; NMONDO:MONDO:0012160,MedGen:C1837073,OMIM:608940, Orphanet:851673195975117195975117CT3:g.195975117C>TClinGen:CA214463,UniProtKB:P49585#VAR_071083,OMIM:123695.0003C1837073 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy;
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