MSeqDR Mitochondrial Disease Portal


 
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Craniofacial Abnormalities (D019465)
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Diseases (C)
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Growth Disorders (D006130)
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Heart Defects, Congenital (D006330)
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Larsen syndrome, recessive type (C537874)
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MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)

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 Sister Nodes: 
..expandMULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8261
Name:MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
Definition:
Alternative IDs:
ParentIDs:MESH:C537874|MESH:D006130|MESH:D006330|MESH:D019465
TreeNumbers:C05.116.099/C537874/245600 |C05.550.518/C537874/245600 |C05.660.207/245600 |C05.660/C537874/245600 |C14.240.400/245600 |C14.280.400/245600 |C16.131.077/C537874/245600 |C16.131.240.400/245600 |C16.131.621.207/245600 |C16.131.621/C537874/245600 |C23.550.393/245600 |C
Synonyms:JDSCD |LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
Slim Mappings:Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Pathology (process)|Wounds and injuries
Reference: MedGen: 245600
MeSH: 245600
OMIM: 245600;
MSeqDR LSDB:  
Genes: B3GAT3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:000087811 pairs of ribsHP:0040283
3 HP:0004298Abnormality of the abdominal wall
4 HP:0001090Abnormally large globe
5 HP:0005616Accelerated skeletal maturation
6 HP:0000646Amblyopia
7 HP:0002616Aortic root aneurysm
8 HP:0001647Bicuspid aortic valve
9 HP:0005021Bilateral elbow dislocations
10 HP:0000592Blue scleraeHP:0040283
11 HP:0000248Brachycephaly
12 HP:0009880Broad distal phalanges of all fingers
13 HP:0001640Cardiomegaly
14 HP:0000175Cleft palate
15 HP:0000776Congenital diaphragmatic herniaHP:0040283
16 HP:0001087Congenital glaucoma
17 HP:0000973Cutis laxa
18 HP:0002750Delayed skeletal maturationHP:0040283
19 HP:0005280Depressed nasal bridge
20 HP:0000494Downslanted palpebral fissures
21 HP:0002987Elbow flexion contracture
22 HP:0003051Enlarged metaphyses
23 HP:0000565Esotropia
24 HP:0012368Flat faceHP:0040283
25 HP:0002007Frontal bossing
26 HP:0001290Generalized hypotoniaHP:0040283
27 HP:0040160Generalized osteoporosisHP:0040283
28 HP:0002857Genu valgumHP:0040283
29 HP:0002827Hip dislocation
30 HP:0000238Hydrocephalus
31 HP:0000974Hyperextensible skinHP:0040283
32 HP:0000540Hypermetropia
33 HP:0000316Hypertelorism
34 HP:0000023Inguinal herniaHP:0040283
35 HP:0001388Joint laxity
36 HP:0004976Knee dislocation
37 HP:0001712Left ventricular hypertrophy
38 HP:0002162Low posterior hairline
39 HP:0000369Low-set ears
40 HP:0006099Metacarpophalangeal joint hyperextensibilityHP:0040283
41 HP:0001840Metatarsus adductus
42 HP:0000691Microdontia
43 HP:0000308MicroretrognathiaHP:0040283
44 HP:0008551Microtia
45 HP:0011800Midface retrusion
46 HP:0001634Mitral valve prolapse
47 HP:0001270Motor delayHP:0040283
48 HP:0012095Multiple joint dislocation
49 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
50 HP:0000774Narrow chest
51 HP:0000160Narrow mouth
52 HP:0000938Osteopenia Childhood onset
53 HP:0000939Osteoporosis
54 HP:0001655Patent foramen ovale
55 HP:0000768Pectus carinatumHP:0040283
56 HP:0001763Pes planus
57 HP:0008593Prominent antitragusHP:0040283
58 HP:0011220Prominent forehead
59 HP:0002974Radioulnar synostosis
60 HP:0002757Recurrent fracturesHP:0040283
61 HP:0008905RhizomeliaHP:0040283
62 HP:0001852Sandal gapHP:0040283
63 HP:0002650Scoliosis
64 HP:0000470Short neck
65 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
66 HP:0003834Shoulder dislocationHP:0040283
67 HP:0000274Small face
68 HP:0001222Spatulate thumbs
69 HP:0001772Talipes equinovalgus
70 HP:0001762Talipes equinovarus
71 HP:0000574Thick eyebrow
72 HP:0000465Webbed neckHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_012200.3(B3GAT3):c.955G>C (p.Glu319Gln)26229B3GAT3Uncertain significance-1RCV000687488; NMedGen:C3278404,OMIM:245600, Orphanet:ORPHA284139116238322662383226-CN202840 Larsen-like syndrome, B3GAT3 type;
NM_001288723.1(B3GAT3):c.910-3delC26229B3GAT3Benign753764477RCV000625035; NMedGen:C3278404,OMIM:245600, Orphanet:ORPHA284139116238371562383715-C3278404 245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects;
NM_012200.3(B3GAT3):c.830G>A (p.Arg277Gln)26229B3GAT3Pathogenic/Likely pathogenic387906937RCV000211049; RCV000023536; RCV000724894; Nna; MedGen:C3278404,OMIM:245600, Orphanet:ORPHA284139; MedGen:CN517202116238405762384057OMIM Allelic Variant:606374.0001,UniProtKB (protein):O94766#VAR_066624C3278404 245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects;
NM_012200.3(B3GAT3):c.821C>A (p.Thr274Asn)26229B3GAT3Benign112223093RCV000655220; NMedGen:C3278404,OMIM:245600, Orphanet:ORPHA284139116238406662384066-CN202840 Larsen-like syndrome, B3GAT3 type;
NM_001288723.1(B3GAT3):c.554G>A (p.Gly185Glu)26229B3GAT3Uncertain significance140755387RCV000660631; NMedGen:C3278404,OMIM:245600, Orphanet:ORPHA284139116238452362384523-C3278404 245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects;
NM_012200.3(B3GAT3):c.175C>T (p.Arg59Ter)26229B3GAT3Pathogenic-1RCV000700742; NMedGen:C3278404,OMIM:245600, Orphanet:ORPHA284139116238805162388051-CN202840 Larsen-like syndrome, B3GAT3 type;
NM_012200.3(B3GAT3):c.108C>T (p.Pro36=)26229B3GAT3Benign75316688RCV000655219; NMedGen:C3278404,OMIM:245600, Orphanet:ORPHA284139116238811862388118-CN202840 Larsen-like syndrome, B3GAT3 type;
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)11285B4GALT7Pathogenic28937869RCV000005965; RCV000779599; RCV000258718; RCV000413846; NMedGen:C4552003,OMIM:130070; Human Phenotype Ontology:HP:0005716,MedGen:C4021626; MedGen:C3278404,OMIM:245600, Orphanet:ORPHA284139; MedGen:CN5172025177035995177035995OMIM Allelic Variant:604327.0003
NM_080680.2(COL11A2):c.1607G>A (p.Arg536Gln)1302COL11A2Uncertain significance770888294RCV000171392; NMedGen:C3278404,OMIM:245600, Orphanet:ORPHA28413963314685433146854-C3278404 245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects;
MSeqDR Portal