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:
expandArthrogryposis (D001176)
Parent Node:
expandOsteogenesis Imperfecta (D010013)
..Starting node
..expandBruck syndrome 2 (C537407)

       Child Nodes:



 Sister Nodes: 
..expandAl Gazali Sabrinathan Nair syndrome (C535617)
..expandAstley-Kendall syndrome (C535392)
..expandBruck syndrome 1 (C537406)
..expandBruck syndrome 2 (C537407)
..expandCole Carpenter syndrome (C535963)
..expandGNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
..expandGrant syndrome (C537293)
..expandLowry Maclean syndrome (C537037)
..expandOI/EDS Combined Syndrome (C565178)
..expandOsteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..expandOsteogenesis Imperfecta Type VII (C565200)
..expandOsteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
..expandOsteogenesis imperfecta, Levin type (C536039)
..expandOsteogenesis imperfecta, type 1A (C536041)
..expandOsteogenesis imperfecta, type 2A (C536042)
..expandOsteogenesis imperfecta, type 2B (C536043)
..expandOsteogenesis imperfecta, type 3 (C536044)
..expandOsteogenesis imperfecta, type 4 (C536045)
..expandOsteogenesis imperfecta, type 5 (C536046)
..expandOsteogenesis imperfecta, type 6 (C536047)
..expandOsteogenesis imperfecta, type 7 (C536048)
..expandOsteogenesis Imperfecta, Type IX (C564921)
..expandOsteogenesis Imperfecta, Type V (C567042)
..expandOsteogenesis Imperfecta, Type VI (C567041)
..expandOsteogenesis imperfecta, type VIII (C536049)
..expandOsteopenic Nonfracture Syndrome (C567172)
..expandOsteoporosis-pseudoglioma syndrome (C536063)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1514
Name:Bruck syndrome 2
Definition:
Alternative IDs:OMIM:609220
ParentIDs:MESH:D001176|MESH:D010013
TreeNumbers:C05.116.099.708.685/C537407 |C05.550.150/C537407 |C05.651.102/C537407 |C05.660.077/C537407 |C16.131.621.077/C537407 |C16.320.737/C537407 |C17.300.200.540/C537407
Synonyms:BRKS2 |Bruck syndrome, 2 |OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
Slim Mappings:Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: C537407
MeSH: C537407
OMIM: 609220;

Genes: PLOD2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002987Elbow flexion contracture
3 HP:0002980Femoral bowing
4 HP:0001371Flexion contracture
5 HP:0003080Hydroxyprolinuria
6 HP:0002659Increased susceptibility to fractures
7 HP:0000023Inguinal hernia
8 HP:0006380Knee flexion contracture
9 HP:0000938Osteopenia
10 HP:0000768Pectus carinatum
11 HP:0000926Platyspondyly
12 HP:0001059Pterygium
13 HP:0004322Short stature
14 HP:0001762Talipes equinovarus
15 HP:0002645Wormian bones
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000935.2(PLOD2):c.1823C>T (p.Thr608Ile)5352PLOD2Pathogenic121434459RCV000008080; NMedGen:C1836602,OMIM:6092203145789173145789173NM_000935.2:c.1823C>TNP_000926.2:p.Thr608IleNC_000003.11:g.145789173G>AOMIM Allelic Variant:601865.0001C1836602 609220 Bruck syndrome 2
NM_000935.2(PLOD2):c.1802G>T (p.Gly601Val)5352PLOD2Pathogenic121434460RCV000008081; NMedGen:C1836602,OMIM:6092203145789194145789194NM_000935.2:c.1802G>TNP_000926.2:p.Gly601ValNC_000003.11:g.145789194C>AOMIM Allelic Variant:601865.0002C1836602 609220 Bruck syndrome 2
NM_000935.2(PLOD2):c.1793G>A (p.Arg598His)5352PLOD2Pathogenic121434461RCV000008082; NMedGen:C1836602,OMIM:6092203145789203145789203NM_000935.2:c.1793G>ANP_000926.2:p.Arg598HisNC_000003.11:g.145789203C>TOMIM Allelic Variant:601865.0003C1836602 609220 Bruck syndrome 2