GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

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RGDs registry under the 'Bone disorders'
S.No.  Genetic Disorders Aliases Sub-Category Gene symbol  Links Indian
context
1 Diastrophic dysplasia •Diastrophic dwarfism
 Primary bone dysplasia SLC26A2 solute carrier family 26 member 2
 PubMed Reports
2 Acrocephalosyndactyly •Apert syndrome
 Craniosynostosis  FGFR2 fibroblast growth factor receptor 2
 PubMed Reports
3 Craniodiaphyseal dysplasia, autosomal dominant •Lion face syndrome or leontiasis ossea
 Non-Neoplastic Musculoskeletal Disorder ( SOST sclerostin
 PubMed Reports
4 Lethal osteosclerotic bone dysplasia •Raine syndrome
•Raine syndrome
•Osteosclerotic bone dysplasia
 Skeletal dysplasia FAM20C FAM20C golgi associated secretory pathway kinase
 PubMed Reports
5 Osteogenesis imperfecta •Brittle bone disease
•Glass bone disease
•Lobstein disease
•COL1A1/2-Related Osteogenesis Imperfecta
 Skeletal dysplasia P3H1 prolyl 3-hydroxylase 1
FKBP10 FKBP prolyl isomerase 10
CRTAP cartilage associated protein
PPIB peptidylprolyl isomerase B
COL1A2 collagen type I alpha 2 chain
COL1A1 collagen type I alpha 1 chain
SERPINH1 serpin family H member 1
SERPINF1 serpin family F member 1
BMP1 bone morphogenetic protein 1
TMEM38B transmembrane protein 38B
WNT1 Wnt family member 1
IFITM5 interferon induced transmembrane protein 5
SP7 Sp7 transcription factor
SPARC secreted protein acidic and cysteine rich
TENT5A terminal nucleotidyltransferase 5A
MBTPS2 membrane bound transcription factor peptidase, site 2
CREB3L1 cAMP responsive element binding protein 3 like 1
SLC34A1 solute carrier family 34 member 1
MESD mesoderm development LRP chaperone
KDELR2 KDEL endoplasmic reticulum protein retention receptor 2
GBE1 1,4-alpha-glucan branching enzyme 1
LRP5 LDL receptor related protein 5
XYLT2 xylosyltransferase 2
PHLDB1 pleckstrin homology like domain family B member 1
 PubMed Reports
6 Stickler syndrome Osteochondrodysplasia  COL11A1 collagen type XI alpha 1 chain
COL9A1 collagen type IX alpha 1 chain
COL2A1 collagen type II alpha 1 chain
COL9A2 collagen type IX alpha 2 chain
COL9A3 collagen type IX alpha 3 chain
COL11A2 collagen type XI alpha 2 chain
LOXHD1 lipoxygenase homology PLAT domains 1
 PubMed Reports
7 Autosomal recessive Robinow syndrome •Robinow syndrome
 Skeletal dysplasia ROR2 receptor tyrosine kinase like orphan receptor 2
 PubMed Reports
8 Acromesomelic dysplasia Osteochondrodysplasia  BMPR1B bone morphogenetic protein receptor type 1B
GDF5 growth differentiation factor 5
NPR2 natriuretic peptide receptor 2
ANK2 ankyrin 2
PRKG2 protein kinase cGMP-dependent 2
 PubMed Reports
9 Pfeiffer syndrome Dysostosis FGFR2 fibroblast growth factor receptor 2
FGFR1 fibroblast growth factor receptor 1
 PubMed Reports
10 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PRG4 proteoglycan 4
 PubMed Reports
11 Fibrous dysplasia of jaw •Cherubism
•CRBM
 Skeletal dysplasia SH3BP2 SH3 domain binding protein 2
 PubMed Reports
12 Spondyloepiphyseal dysplasia with congenital joint dislocations •CHST3-related skeletal dysplasia
•Chondrodysplasia with congenital joint dislocations
 Osteochondrodysplasia  CHST3 carbohydrate sulfotransferase 3
 PubMed Reports
13 Congenital contractural arachnodactyly FBN2 fibrillin 2
FBN1 fibrillin 1
 PubMed Reports
14 Enthesitis-Related Juvenile Idiopathic Arthritis •Enthesitis related arthritis
•Enthesitis-related JIA
•Juvenile ERA
 Bone inflammation diseases IL36G interleukin 36 gamma
MIF macrophage migration inhibitory factor
 PubMed Reports
15 Gnathodiaphyseal dysplasia Osteochondrodysplasia  ANO5 anoctamin 5
 PubMed Reports
16 Goldenhar syndrome Craniosynostosis SF3B2 splicing factor 3b subunit 2
ZYG11B zyg-11 family member B, cell cycle regulator
FOXI3 forkhead box I3
 PubMed Reports
17 Hajdu-Cheney syndrome •Arthrodentoosteodysplasia
•Acroosteolysis with osteoporosis and changes in skull and mandible
 Skeletal dysplasia NOTCH2 notch receptor 2
 PubMed Reports
18 Hyaline fibromatosis syndrome Skeletal dysplasia ANTXR2 ANTXR cell adhesion molecule 2
 PubMed Reports
19 Neurofibromatosis type 1 •Von Recklinghausen disease
•Peripheral type neurofibromatosis
 Sphenoid dysplasia NF1 neurofibromin 1
 PubMed Reports
20 Oculodentodigital dysplasia Skeletal dysplasia GJA1 gap junction protein alpha 1
 PubMed Reports
21 Oto-Palato-Digital syndrome •Otopalatodigital syndrome type 1
•OPD syndrome 1
 Skeletal dysplasia FLNA filamin A
 PubMed Reports
22 Hypertrophic osteoarthropathy •Pachydermoperiostosis
 Bone inflammation diseases HPGD 15-hydroxyprostaglandin dehydrogenase
SLCO2A1 solute carrier organic anion transporter family member 2A1
 PubMed Reports
23 Polyostotic fibrous dysplasia Fibrous dysplasia GNAS GNAS complex locus
 PubMed Reports
24 Progressive Pseudorheumatoid Dysplasia Osteochondrodysplasia  CCN6 cellular communication network factor 6
 PubMed Reports
25 Coxopodopatellar syndrome •Pulmonary arterial hypertension
 Skeletal dysplasia TBX4 T-box transcription factor 4
 PubMed Reports
26 Shprintzen-Goldberg syndrome Craniosynostosis (Bone disorders) SKI SKI proto-oncogene
 PubMed Reports
27 Spondylocostal dysostosis •Spondylothoracic dysostosis
 Dysostosis MESP2 mesoderm posterior bHLH transcription factor 2
DLL3 delta like canonical Notch ligand 3
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
HES7 hes family bHLH transcription factor 7
TBX6 T-box transcription factor 6
RIPPLY2 ripply transcriptional repressor 2
 PubMed Reports
28 Systemic-Onset Juvenile Idiopathic Arthritis •Still Disease
•Systemic-Onset Jia
•Systemic onset juvenile idiopathic arthritis
 Bone inflammation diseases S100A9 S100 calcium binding protein A9
IL6 interleukin 6
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
LACC1 laccase domain containing 1
 PubMed Reports
29 Winchester syndrome Skeletal dysplasia MMP14 matrix metallopeptidase 14
 PubMed Reports
30 Fanconi anemia Dysostosis(Bone marrow disorders) FANCI FA complementation group I
PALB2 partner and localizer of BRCA2
FANCL FA complementation group L
FANCA FA complementation group A
BRIP1 BRCA1 interacting helicase 1
FANCF FA complementation group F
FANCG FA complementation group G
RAD51C RAD51 paralog C
FANCE FA complementation group E
BRCA2 BRCA2 DNA repair associated
FANCB FA complementation group B
FANCD2 FA complementation group D2
FANCC FA complementation group C
XRCC2 X-ray repair cross complementing 2
SLX4 SLX4 structure-specific endonuclease subunit
ERCC4 ERCC excision repair 4, endonuclease catalytic subunit
UBE2T ubiquitin conjugating enzyme E2 T
BRCA1 BRCA1 DNA repair associated
FANCM FA complementation group M
RAD51 RAD51 recombinase
MAD2L2 mitotic arrest deficient 2 like 2
RFWD3 ring finger and WD repeat domain 3
ZNF469 zinc finger protein 469
DCLRE1B DNA cross-link repair 1B
 PubMed Reports
31 Autosomal dominant Robinow syndrome •Robinow dwarfism
•Fetal face syndrome
•Robinow syndrome
 Skeletal dysplasia WNT5A Wnt family member 5A
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
FZD2 frizzled class receptor 2
CHN1 chimerin 1
 PubMed Reports
32 Camptomelic dysplasia •Campomelic dysplasia
•Campomelic dwarfism
 Skeletal dysplasia SOX9 SRY-box transcription factor 9
 PubMed Reports
33 Acrocallosal syndrome •Hallux duplication
 Skeletal dysplasia KIF7 kinesin family member 7
 PubMed Reports
34 Achondroplasia •Congenital Osteosclerosis
•SADDAN syndrome
•Achondroplastic Dwarfism
•Saddan dysplasia
 Skeletal dysplasia FGFR3 fibroblast growth factor receptor 3
 PubMed Reports
35 Osteoglophonic dysplasia •Osteoglophonic Dwarfism
 Skeletal dysplasia FGFR1 fibroblast growth factor receptor 1
 PubMed Reports
36 Thanatophoric dysplasia •Thanatophoric dwarfism
•Thanatophoric dysplasia type 1
•Thanatophoric dysplasia type 2
 Skeletal dysplasia FGFR3 fibroblast growth factor receptor 3
 PubMed Reports
37 Achondrogenesis •Achondrogenesis syndrome
 Skeletal dysplasia SLC26A2 solute carrier family 26 member 2
TRIP11 thyroid hormone receptor interactor 11
COL2A1 collagen type II alpha 1 chain
 PubMed Reports
38 Infantile cortical hyperostosis •Caffey disease
 Osteochondrodysplasia  COL1A1 collagen type I alpha 1 chain
A4GALT alpha 1,4-galactosyltransferase (P1PK blood group)
 PubMed Reports
39 Cenani-Lenz syndactyly syndrome •Cenani-Lenz syndrome
•Cenani syndactyly
•Syndactyly type 7
 Skeletal dysplasia LRP4 LDL receptor related protein 4
 PubMed Reports
40 Filippi syndrome Skeletal dysplasia CKAP2L cytoskeleton associated protein 2 like
 PubMed Reports
41 Floating-Harbor syndrome •Pelletier-Leisti syndrome
 Craniosynostosis SRCAP Snf2 related CREBBP activator protein
 PubMed Reports
42 Ghosal hematodiaphyseal dysplasia •GHDD
 Skeletal dysplasia TBXAS1 thromboxane A synthase 1
 PubMed Reports
43 Ellis-van Creveld syndrome •Mesodermic dysplasia
•Chondroectodermal dysplasia
•Ellis Van Creveld syndrome
 Skeletal dysplasia EVC2 EvC ciliary complex subunit 2
EVC EvC ciliary complex subunit 1
 PubMed Reports
44 Greig cephalopolysyndactyly syndrome •Greig syndrome
•GCPS
 Skeletal dysplasia GLI3 GLI family zinc finger 3
 PubMed Reports
45 Gollop-Wolfgang complex •Femur bifid with monodactylous ectrodactyly
 Dysostosis BHLHA9 basic helix-loop-helix family member a9
 PubMed Reports
46 Trichorhinophalangeal syndrome •Trichorhinophalangeal dysplasia type I
 Skeletal dysplasia TRPS1 transcriptional repressor GATA binding 1
 PubMed Reports
47 Spondylocarpotarsal synostosis syndrome •Synspondylism
•Spondylocarpotarsal synostosis
 Skeletal dysplasia FLNB filamin B
MYH3 myosin heavy chain 3
 PubMed Reports
48 Smith-McCort dysplasia •Smith-McCort dwarfism
 Osteochondrodysplasia  DYM dymeclin
RAB33B RAB33B, member RAS oncogene family
 PubMed Reports
49 Sclerosteosis •Cortical hyperostosis-syndactyly syndrome
 Hyperostosis SOST sclerostin
LRP4 LDL receptor related protein 4
 PubMed Reports
50 Schimke immuno-osseous dysplasia •Schimke immunoosseous dysplasia
•Schimke syndrome
•Spondyloepiphyseal dysplasia nephrotic syndrome
 Skeletal dysplasia SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
 PubMed Reports
51 Reactive arthritis •Arthritis urethritica
•Fiessinger-Leroy disease
•Polyarthritis enterica
•Venereal arthritis
 Bone inflammation diseases HLA-B major histocompatibility complex, class I, B
 PubMed Reports
52 Pyle metaphyseal dysplasia •Pyle disease
•Metaphyseal dysostosis
•Pyle's disease
 Skeletal dysplasia SFRP4 secreted frizzled related protein 4
 PubMed Reports
53 Pyknodysostosis •Pycnodysostosis
 Skeletal dysplasia CTSK cathepsin K
 PubMed Reports
54 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome •Pseudoachondroplasia
•Pseudoachondroplastic dysplasia
 Osteochondrodysplasia  COMP cartilage oligomeric matrix protein
 PubMed Reports
55 Proteus syndrome •Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
•Elattoproteus syndrome
•Macrocephaly mesodermal hamartoma spectrum
•Hemihypertrophy and macrocephaly
 Skeletal dysplasia AKT1 AKT serine/threonine kinase 1
 PubMed Reports
56 Progressive osseous heteroplasia •Familial ectopic ossification
• POH
 GNAS GNAS complex locus
 PubMed Reports
57 Miller syndrome •Postaxial acrofacial dysostosis
•Acrofacial dysostosis,POADS
•Postaxial acrodysostosis
 Dysostosis DHODH dihydroorotate dehydrogenase (quinone)
 PubMed Reports
58 Otospondylomegaepiphyseal dysplasia •Spondylo-megaepiphyseal-metaphyseal dysplasia
•OSMED Syndrome
 Osteochondrodysplasia  COL11A2 collagen type XI alpha 2 chain
COL2A1 collagen type II alpha 1 chain
 PubMed Reports
59 Osteofibrous dysplasia Skeletal dysplasia MET MET proto-oncogene, receptor tyrosine kinase
 PubMed Reports
60 Opsismodysplasia Skeletal dysplasia INPPL1 inositol polyphosphate phosphatase like 1
 PubMed Reports
61 Nail-patella syndrome •Onychoosteodysplasia
•Arthro-Onychodysplasia
•Fong disease
•Turner-Kieser syndrome
 Dysostosis LMX1B LIM homeobox transcription factor 1 beta
 PubMed Reports
62 Nager syndrome •Nager acrofacial dysostosis
•Preaxial acrofacial dysostosis
•Split hand deformity-mandibulofacial dysostosis
 Dysostosis SF3B4 splicing factor 3b subunit 4
 PubMed Reports
63 Multiple congenital exostosis •Multiple osteochondromas
•Hereditary multiple exostosis
•Multiple exostoses
 Hyperostosis EXT1 exostosin glycosyltransferase 1
 PubMed Reports
64 Tarsal-carpal coalition syndrome Skeletal dysplasia NOG noggin
 PubMed Reports
65 Ehlers-Danlos syndrome, musculocontractural type •Musculocontractural Ehlers-Danlos syndrome
•Adducted thumb-clubfoot syndrome
•Dündar syndrome
 Craniosynostosis CHST14 carbohydrate sulfotransferase 14
DSE dermatan sulfate epimerase
 PubMed Reports
66 Myhre syndrome •Growth mental deficiency syndrome of Myhre
•LAPS syndrome
 Skeletal dysplasia SMAD4 SMAD family member 4
 PubMed Reports
67 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy •Nasu-Hakola disease
•PLOSL
 Skeletal dysplasia TREM2 triggering receptor expressed on myeloid cells 2
TYROBP transmembrane immune signaling adaptor TYROBP
 PubMed Reports
68 Mulibrey nanism syndrome •Muscle-liver-brain-eye nanism
•Perheentupa syndrome
•Mulibrey Nanism
•Pericardial constriction and growth failure
 Skeletal dysplasia TRIM37 tripartite motif containing 37
 PubMed Reports
69 Multicentric osteolysis nodulosis arthropathy •Nodulosis arthropathy osteolysis syndrome
•NAO syndrome
•NOA syndrome
•Torg syndrome
•Torg-Winchester syndrome
 Skeletal dysplasia MMP2 matrix metallopeptidase 2
LPCAT2 lysophosphatidylcholine acyltransferase 2
 PubMed Reports
70 Muenke syndrome •FGFR3-Related craniosynostosis
•Syndrome of coronal craniosynostosis
•Muenke nonsyndromic coronal craniosynostosis
 Craniosynostosis FGFR3 fibroblast growth factor receptor 3
 PubMed Reports
71 Majeed syndrome •Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis
•Dyserythropoietic anemia, and neutrophilic dermatosis
•CDA and CRMO
 Bone inflammation diseases LPIN2 lipin 2
 PubMed Reports
72 Maffucci syndrome •Enchondromatosis with multiple cavernous hemangiomas
•Hemangiomatosis chondrodystrophica
•Kast syndrome
•Multiple enchondromatosis
 Vascular bone neoplasm COL2A1 collagen type II alpha 1 chain
HIF1A hypoxia inducible factor 1 subunit alpha
 PubMed Reports
73 Metachondromatosis PTPN11 protein tyrosine phosphatase non-receptor type 11
 PubMed Reports
74 Mesoaxial synostotic syndactyly with phalangeal reduction •Syndactyly type 9
•Syndactyly Malik-Percin type
 Skeletal dysplasia BHLHA9 basic helix-loop-helix family member a9
 PubMed Reports
75 Metatropic dysplasia •Metatropic skeletal dysplasia
•Metatropic dwarfism
 Skeletal dysplasia TRPV4 transient receptor potential cation channel subfamily V member 4
 PubMed Reports
76 Langer mesomelic dysplasia syndrome •Dyschondrosteosis, homozygous
•Langer Mesomelic Dwarfism
•Langer mesomelic dysplasia
•Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type
 Skeletal dysplasia SHOX SHOX homeobox
 PubMed Reports
77 Acrodysostosis •Arkless-Graham syndrome
•Maroteaux-Malamut syndrome
•Acrodysplasia
 Skeletal dysplasia PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha
PDE4D phosphodiesterase 4D
 PubMed Reports
78 Adams-Oliver syndrome 1 •Congenital scalp defects with distal limb reduction anomalies
•Adams-Oliver syndrome
•Forrest H Adams syndrome
•Scalp and head syndrome
•Scalp defects with ectrodactyly
 Skeletal dysplasia ARHGAP31 Rho GTPase activating protein 31
 PubMed Reports
79 Schwartz-Jampel syndrome •Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities
•Schwartz Jampel syndrome type 1
•Aberfeld syndrome
•Burton skeletal dysplasia
•Burton syndrome
•Catel-Hempel syndrome
•Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
•Myotonic chondrodystrophy
•Myotonic myopathy, dwarfism, chondrodystrophy
 Skeletal dysplasia HSPG2 heparan sulfate proteoglycan 2
 PubMed Reports
80 Carpenter syndrome •Acrocephalopolysyndactyly type 2
•ACPS2
•RAB23-related Carpenter syndrome
•Acrocephalopolysyndactyly Type II
•Carpenter syndrome 1
 Craniosynostosis RAB23 RAB23, member RAS oncogene family
MEGF8 multiple EGF like domains 8
 PubMed Reports
81 Autosomal recessive osteopetrosis 8 •OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
•OPTB8
 Skeletal dysplasia SNX10 sorting nexin 10
 PubMed Reports
82 Autosomal dominant osteopetrosis 2 •Albers-Schönberg osteopetrosis
•Albers-Schoenberg disease
•Osteosclerosis fragilis generalisata
•Albers-Schonberg disease, Autosomal Dominant
•Autosomal Dominant Osteopetrosis Type II
•Marble bones
•Osteopetroses
•Osteosclerosis fragilis
 Skeletal dysplasia CLCN7 chloride voltage-gated channel 7
 PubMed Reports
83 Autosomal recessive osteopetrosis 1 •Osteopetrosis, autosomal recessive 1
•Albers-Schonberg disease, autosomal recessive
•Marble bones autosomal recessive
•Osteopetrosis infantile malignant 1
•TCIRG1-related autosomal recessive osteopetrosis
 Skeletal dysplasia TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
 PubMed Reports
84 Osteopetrosis with renal tubular acidosis •Autosomal recessive osteopetrosis type 3
•Carbonic anhydrase 2 deficiency
•Guibaud Vainsel syndrome
•Marble brain disease
•Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
 Skeletal dysplasia CA2 carbonic anhydrase 2
 PubMed Reports

 
Conceptualized, designed and developed by Dr. Iliyas Rashid
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