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Fractures, Bone (D050723)
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Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
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SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)

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..expandSPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11634
Name:SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
Definition:
Alternative IDs:
ParentIDs:MESH:C562968|MESH:D050723
TreeNumbers:C05.116.099.708/C562968/271640 |C05.550.521/C562968/271640 |C16.320.728/C562968/271640 |C26.404/271640
Synonyms:SEMDJL |SEMDJL1
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Wounds and injuries
Reference: MedGen: 271640
MeSH: 271640
OMIM: 271640;
MSeqDR LSDB:  
Genes: B3GALT6;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:000087811 pairs of ribs
3 HP:0004233Advanced ossification of carpal bones
4 HP:0001631Atrial septal defect
5 HP:0001647Bicuspid aortic valve
6 HP:0000592Blue sclerae
7 HP:0009836Broad distal phalanx of finger
8 HP:0009702Carpal synostosisHP:0040283
9 HP:0000175Cleft palateHP:0040284
10 HP:0008012Congenital myopia
11 HP:0002673Coxa valga
12 HP:0000887Cupped ribs
13 HP:0004325Decreased body weight
14 HP:0008828Delayed proximal femoral epiphyseal ossification
15 HP:0003083Dislocated radial head
16 HP:0001083Ectopia lentis
17 HP:0002869Flared iliac wings
18 HP:0003015Flared metaphysis
19 HP:0000904Flaring of rib cage
20 HP:0012368Flat face
21 HP:0001371Flexion contracture
22 HP:0001030Fragile skin
23 HP:0001290Generalized hypotonia
24 HP:0002857Genu valgumHP:0040284
25 HP:0001822Hallux valgus
26 HP:0000218High palateHP:0040284
27 HP:0002827Hip dislocation
28 HP:0030043Hip subluxation
29 HP:0000974Hyperextensible skin
30 HP:0008824Hypoplastic iliac body
31 HP:0003301Irregular vertebral endplates
32 HP:0001388Joint laxity
33 HP:0002751Kyphoscoliosis
34 HP:0008818Large iliac wings
35 HP:0000343Long philtrum
36 HP:0011341Long upper lip
37 HP:0000272Malar flattening
38 HP:0003016Metaphyseal widening
39 HP:0001840Metatarsus adductus
40 HP:0000347Micrognathia
41 HP:0011800Midface retrusion
42 HP:0001653Mitral regurgitation
43 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
44 HP:0000545Myopia
45 HP:0000939Osteoporosis
46 HP:0000300Oval face
47 HP:0003300Ovoid vertebral bodies
48 HP:0010550Paraplegia
49 HP:0002756Pathologic fracture
50 HP:0001763Pes planus
51 HP:0000926Platyspondyly Childhood onset
52 HP:0000926Platyspondyly
53 HP:0011220Prominent forehead
54 HP:0000520Proptosis
55 HP:0002986Radial bowing
56 HP:0003048Radial head subluxation
57 HP:0003510Severe short stature
58 HP:0100864Short femoral neck
59 HP:0003026Short long bone
60 HP:0010049Short metacarpal
61 HP:0001799Short nail
62 HP:0000470Short neck
63 HP:0003100Slender long bone
64 HP:0001027Soft, doughy skin
65 HP:0002209Sparse scalp hair
66 HP:0002176Spinal cord compression
67 HP:0002651Spondyloepimetaphyseal dysplasia
68 HP:0001762Talipes equinovarus
69 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)126792B3GALT6Pathogenicrs786200938RCV000054390|RCV001560169|RCV001853073; NMONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359|MedGen:CN517202|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496; MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640, Orphanet:93359111676591167659AG1:g.1167659A>GClinGen:CA144521,OMIM:615291.0001C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity;
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)126792B3GALT6Uncertain significancers1131691530RCV000493202|RCV000763716|RCV001034688; NMedGen:CN517202|MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359; MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640, Orphanet:93359; MONDO:MONDO:0014139,MedGen:C3809210,OMIM:61534111676751167675GA1:g.1167675G>AClinGen:CA337821872CN169374 not specified;
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly)126792B3GALT6Uncertain significancers900539403RCV000520086|RCV000794417|RCV001365605; NMedGen:CN517202|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496; MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640, Orphanet:93359; MONDO:MONDO:0014139,MedGen:C3809210,OMIM:61534111676931167693CGNC_000001.10:g.1167693C>GClinGen:CA16755076CN169374 not specified;
NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu)126792B3GALT6Conflicting interpretations of pathogenicityrs892958562RCV000983856|RCV001332788|RCV001504959; NMedGen:CN517202|MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640, Orphanet:93359; MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496111677681167768GA1:g.1167768G>A-
NM_080605.4(B3GALT6):c.193A>G (p.Ser65Gly)126792B3GALT6Pathogenicrs397514719RCV000054394; NMONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359111678511167851AG1:g.1167851A>GClinGen:CA144526,UniProtKB:Q96L58#VAR_070133,OMIM:615291.0005C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity;
NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu)126792B3GALT6Pathogenicrs397514720RCV000054395|RCV001781384|RCV001853074; NMONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359|MedGen:CN517202|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496; MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640, Orphanet:93359111678581167858CT1:g.1167858C>TClinGen:CA144527,UniProtKB:Q96L58#VAR_070134,OMIM:615291.0006C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity;
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg)126792B3GALT6Uncertain significancers1409554936RCV000688845|RCV001326192; NMONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496; MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496; MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640, Orphanet:93359111678941167894CG1:g.1167894C>G-C3809210 615349 Ehlers-Danlos syndrome, progeroid type, 2;
NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln)126792B3GALT6Uncertain significancers1199531500RCV000761628|RCV001332789; NMedGen:CN517202|MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359111679711167971GCNC_000001.10:g.1167971G>C-
NM_080605.4(B3GALT6):c.446del (p.Phe149fs)126792B3GALT6Uncertain significancers1553151257RCV000651597|RCV001299488; NMONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496; MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496; MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640, Orphanet:93359111681031168103CTC1:g.1168103_1168103delClinGen:CA658795354C3809210 615349 Ehlers-Danlos syndrome, progeroid type, 2;
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu)126792B3GALT6Conflicting interpretations of pathogenicityrs1638552845RCV001267717|RCV001788441|RCV001880154; NMONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359|MedGen:CN517202|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496; MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640, Orphanet:93359111681051168105CG1:g.1168105C>G-
NM_080605.4(B3GALT6):c.466G>A (p.Asp156Asn)126792B3GALT6Pathogenicrs397514718RCV000054392; NMONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359111681241168124GA1:g.1168124G>AClinGen:CA144524,UniProtKB:Q96L58#VAR_070136,OMIM:615291.0003C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity;
NM_080605.4(B3GALT6):c.520G>C (p.Glu174Gln)126792B3GALT6Uncertain significance-1RCV001946472|RCV002074442; NMONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496; MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640, Orphanet:93359|MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359; MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496111681781168178GC1168178-
NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu)126792B3GALT6Pathogenicrs1553151294RCV000625553|RCV001090032|RCV001090033; NMONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359|MedGen:C4017378|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496111682141168214TC1:g.1168214T>CClinGen:CA337826592,OMIM:615291.0019C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity;
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)126792B3GALT6Conflicting interpretations of pathogenicityrs533071750RCV000488976|RCV001267718|RCV001824140|RCV001856913; NMedGen:CN517202|MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359|MONDO:MONDO:0012282,MedGen:C1836121,OMIM:609465, Orphanet:2725|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496; MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640111682391168240CCG1:g.1168239_1168240insGClinGen:CA513388CN517202 not provided;
NM_080605.4(B3GALT6):c.655G>A (p.Val219Met)126792B3GALT6Uncertain significancers1557526653RCV000688846|RCV001266136|RCV001341729; NMONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496; MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496; MONDO:MONDO:0019675,MedGen:C0432243111683131168313GA1:g.1168313G>A-C3809210 615349 Ehlers-Danlos syndrome, progeroid type, 2;
NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys)126792B3GALT6Uncertain significancers397514717RCV000054391|RCV001753471; NMONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359|MedGen:CN517202111683521168352CT1:g.1168352C>TClinGen:CA144523,UniProtKB:Q96L58#VAR_070139,OMIM:615291.0002C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity;
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn)126792B3GALT6Conflicting interpretations of pathogenicityrs201547600RCV000360273|RCV001332792|RCV001503677; NMedGen:CN517202|MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640, Orphanet:93359; MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496111685111168511GA1:g.1168511G>AClinGen:CA513450CN169374 not specified;
NM_080605.4(B3GALT6):c.899G>C (p.Cys300Ser)126792B3GALT6Pathogenicrs786200939RCV000054393; NMONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359111685571168557GC1:g.1168557G>CClinGen:CA144525,UniProtKB:Q96L58#VAR_070140,OMIM:615291.0004C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity;
NC_000001.10:g.(?_1146915)_(1168668_?)dup-1B3GALT6;SDF4;TNFRSF4Uncertain significance-1RCV000813334|RCV001319585; NMONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359; MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:75496|MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149111469151168668nana-
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