MCID: OST015
MIFTS: 60

Osteochondrodysplasia

Categories: Bone diseases, Rare diseases
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Aliases & Classifications for Osteochondrodysplasia

MalaCards integrated aliases for Osteochondrodysplasia:

Name: Osteochondrodysplasia 11 28 5 14 16 75
Skeletal Dysplasia 11 28 53 5
Chondrodystrophy 11 19 75 53
Congenital Anomaly of Cartilage 11 71
Osteochondrodysplasias 53 71
Cartilage Development Disorder 11
Osteochondrodysplasia Syndrome 11
Mucopolysaccharidosis Iv 71
Dysplasia, Skeletal 38

Classifications:



External Ids:

Disease Ontology 11 DOID:2256
ICD9CM 34 756.4
MeSH 43 D010009
SNOMED-CT 68 205510001 67988000
UMLS 71 C0008449 C0026707 C0029422

Summaries for Osteochondrodysplasia

GARD: 19 A term referring to disorders characterized by abnormalities in the development of bones and cartilage.

MalaCards based summary: Osteochondrodysplasia, also known as skeletal dysplasia, is related to eiken syndrome and primary bone dysplasia. An important gene associated with Osteochondrodysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Extracellular matrix organization. The drugs Losartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are homeostasis/metabolism and nervous system

Disease Ontology: 11 A bone development disease that results in defective development of cartilage or bone.

Wikipedia 75 Osteochondrodysplasia: Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo")... more...

Chondrodystrophy: Chondrodystrophy (literally, "cartilage maldevelopment") refers to a skeletal disorder caused by one of... more...

Related Diseases for Osteochondrodysplasia

Diseases related to Osteochondrodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 858)
# Related Disease Score Top Affiliating Genes
1 eiken syndrome 33.1 PTHLH PTH1R
2 primary bone dysplasia 33.0 TRPV4 RAB33B PRMT7 INPP5E GALNS FGFR3
3 chondrodysplasia, blomstrand type 32.8 PTHLH PTH1R
4 brittle bone disorder 32.6 SOX9 PTHLH PTH1R FGFR3 CTSK COMP
5 cleidocranial dysplasia 1 32.5 SOX9 PTHLH PTH1R FGFR3 CTSK COL2A1
6 spondyloepimetaphyseal dysplasia, strudwick type 32.5 TRPV4 PTH1R FGFR3 COMP COL2A1 COL1A2
7 larsen syndrome 32.5 SLC26A2 FLNB FGFR3 COL2A1
8 kniest dysplasia 32.5 SLC26A2 COMP COL2A1
9 diastrophic dysplasia 32.5 SLC26A2 COMP COL2A1
10 spondyloepiphyseal dysplasia with congenital joint dislocations 32.4 SLC26A2 FLNB FGFR3 COMP COL2A1
11 achondrogenesis 32.4 SLC26A2 FGFR3 COMP COL2A1 COL1A2
12 pseudoachondroplasia 32.4 SLC26A2 COMP COL2A1
13 achondroplasia 32.4 SOX9 PTH1R FGFR3 COMP COL2A1 COL1A1
14 thanatophoric dysplasia, type i 32.4 PTH1R FGFR3 COMP COL2A1
15 enchondromatosis, multiple, ollier type 32.4 SOX9 PTHLH PTH1R FGFR3 COL2A1
16 spondyloepimetaphyseal dysplasia 32.3 TRPV4 RAB33B DYM COL2A1
17 hypochondroplasia 32.3 SOX9 FGFR3 COL2A1
18 metachondromatosis 32.3 SOX9 PTHLH PTH1R CTSK COL2A1
19 hypochondrogenesis 32.3 SLC26A2 COMP COL2A1
20 metaphyseal dysplasia 32.3 PTHLH PTH1R DYM COL2A1
21 multiple epiphyseal dysplasia 32.2 SLC26A2 COMP COL2A1
22 brachyolmia 32.2 TRPV4 SLC26A2 COL2A1
23 platyspondylic lethal skeletal dysplasia, torrance type 32.1 COMP COL2A1
24 spondyloepiphyseal dysplasia, maroteaux type 32.1 TRPV4 DYM
25 metaphyseal chondrodysplasia, jansen type 31.9 PTHLH PTH1R
26 atelosteogenesis 31.9 SLC26A2 FLNB
27 scoliosis 31.7 TRPV4 SOX9 FLNB FGFR3 CTSK COMP
28 brachydactyly 31.7 TRPV4 SOX9 SLC26A2 PTHLH PRMT7 FGFR3
29 isolated growth hormone deficiency, type ia 31.2 SOX9 PTHLH PTH1R FGFR3 DYM COMP
30 cleft palate, isolated 31.2 SOX9 INPP5E FLNB FGFR3 COL2A1
31 cartilage disease 31.2 SOX9 COMP COL2A1
32 spondyloepiphyseal dysplasia congenita 31.2 SLC26A2 FGFR3 DYM COMP COL2A1
33 craniosynostosis 31.2 SOX9 FGFR3 COL2A1 ALPL
34 connective tissue disease 31.1 TRPV4 SOX9 SLC26A2 FLNB FGFR3 CTSK
35 achondrogenesis, type ii 31.1 SLC26A2 COMP COL2A1
36 arthropathy 31.1 TRPV4 COMP COL2A1 ALPL
37 exostosis 31.0 SOX9 PTHLH COL2A1
38 osteoporosis 31.0 SOX9 SLC26A2 PTHLH PTH1R CTSK COL2A1
39 bone disease 31.0 PTHLH PTH1R FLNB FGFR3 CTSK COMP
40 endosteal hyperostosis, autosomal dominant 31.0 SOX9 CTSK COL1A2 COL1A1
41 clubfoot 30.9 TRPV4 SLC26A2 INPP5E FLNB COL2A1
42 distal arthrogryposis 30.9 TRPV4 SLC26A2 COL1A2 COL1A1
43 talipes equinovarus 30.9 TRPV4 INPP5E
44 osteogenesis imperfecta, type ii 30.9 FLNB COL2A1 COL1A2 COL1A1 ALPL
45 multiple enchondromatosis, maffucci type 30.8 PTHLH PTH1R COL2A1
46 metatropic dysplasia 30.8 TRPV4 SOX9 COL2A1
47 osteogenesis imperfecta, type iii 30.8 DYNC2H1 COL1A2 COL1A1
48 collagen disease 30.8 COL2A1 COL1A2 COL1A1
49 stickler syndrome 30.8 SOX9 COL2A1 COL1A2 COL1A1
50 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 30.7 TRPV4 INPP5E

Graphical network of the top 20 diseases related to Osteochondrodysplasia:



Diseases related to Osteochondrodysplasia

Symptoms & Phenotypes for Osteochondrodysplasia

MGI Mouse Phenotypes related to Osteochondrodysplasia:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.46 ALPL COL1A1 COL1A2 COL2A1 COMP CTSK
2 nervous system MP:0003631 10.43 ALPL COL1A1 COL1A2 COL2A1 CTSK DYM
3 limbs/digits/tail MP:0005371 10.41 ALPL COL1A1 COL1A2 COL2A1 COMP CTSK
4 growth/size/body region MP:0005378 10.4 ALPL COL1A1 COL1A2 COL2A1 COMP CTSK
5 cellular MP:0005384 10.34 ALPL COL1A1 COL1A2 COL2A1 COMP CTSK
6 craniofacial MP:0005382 10.27 ALPL COL1A1 COL2A1 CTSK DYM DYNC2H1
7 renal/urinary system MP:0005367 10.25 COL1A1 COL2A1 DYM DYNC2H1 FGFR3 GALNS
8 cardiovascular system MP:0005385 10.25 ALPL COL1A1 COL1A2 COL2A1 COMP DYNC2H1
9 digestive/alimentary MP:0005381 10.22 ALPL COL1A1 COL2A1 CTSK DYNC2H1 FGFR3
10 adipose tissue MP:0005375 10.18 ALPL COL1A1 COL1A2 COL2A1 FLNB PRMT7
11 behavior/neurological MP:0005386 10.18 ALPL COL1A1 COL1A2 COL2A1 COMP CTSK
12 immune system MP:0005387 10.1 ALPL COL1A1 COL1A2 COL2A1 COMP CTSK
13 skeleton MP:0005390 10.09 ALPL COL1A1 COL1A2 COL2A1 COMP CTSK
14 respiratory system MP:0005388 10 ALPL COL1A1 COL2A1 CTSK DYNC2H1 FGFR3
15 vision/eye MP:0005391 9.7 COL1A1 COL1A2 COL2A1 DYNC2H1 FGFR3 GALNS
16 hematopoietic system MP:0005397 9.4 ALPL COL1A1 COL1A2 CTSK DYM DYNC2H1

Drugs & Therapeutics for Osteochondrodysplasia

Drugs for Osteochondrodysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Losartan Approved Phase 2 114798-26-4 3961
2
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
3
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
4
Morphine Approved, Investigational Phase 2 57-27-2 5288826
5 Anti-Arrhythmia Agents Phase 2
6 Antihypertensive Agents Phase 2
7
Angiotensinogen Phase 2 16133225
8 Angiotensin Receptor Antagonists Phase 2
9 Angiotensin II Type 1 Receptor Blockers Phase 2
10 Giapreza Phase 2
11 Neurotransmitter Agents Phase 2
12 Psychotropic Drugs Phase 2
13 Anticonvulsants Phase 2
14 Histone Deacetylase Inhibitors Phase 2
15 Anesthetics Phase 2
16 Pharmaceutical Solutions

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 Immunodeficiency in Cartilage-hair Hypoplasia: Correlation With Pulmonary Disease, Infections and Malignancy Unknown status NCT02383797 Phase 4
2 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
3 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
4 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Unknown status NCT03632213 Phase 2 Losartan;Placebo
5 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
6 A Phase 2, Open-label, Multinational Clinical Study to Evaluate the Safety and Efficacy of BMN 110 in Pediatric Patients Less Than 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
7 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2
8 A Phase 2, Open-label, Multinational Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Who Have Limited Ambulation Terminated NCT01697319 Phase 2 BMN 110
9 A Randomized, Double-Blind, Pilot Study of the Safety and Physiological Effects of Two Doses of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Terminated NCT01609062 Phase 2 BMN 110
10 A Multicenter, Multinational, Open-Label, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Terminated NCT01242111 Phase 1, Phase 2 BMN 110
11 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation: A Phase I Study Completed NCT00186914 Phase 1
12 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
13 Natural History of Morquio B and Late-Onset GM1 Gangliosidosis Unknown status NCT04320329
14 A Multicenter, Open-label BMN 110 US Expanded Access Program (BMN 110 US EAP) to Provide BMN 110 to Patients Diagnosed With MPS IVA Approved for marketing NCT01858103 BMN 110
15 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
16 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
17 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
18 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
19 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
20 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Completed NCT03150069
21 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
22 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
23 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
24 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
25 Structured Collection of Data Relating to Rare Diseases With Predominantly Skeletal Involvement Recruiting NCT05247645
26 Registry of Patients Diagnosed With Lysosomal Storage Diseases Recruiting NCT05619900
27 Double Osteotomy for Deformity Correction In Pyle Disease: Comparative Study Recruiting NCT05046977
28 Non-invasive Functional Assessment and Pathogenesis of Morquio A (NIFAMA) Recruiting NCT05284006
29 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
30 Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses Recruiting NCT04624789
31 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Active, not recruiting NCT03548779
32 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Active, not recruiting NCT02294877 Vimizim® (elosulfase alfa)
33 Natural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert Center Active, not recruiting NCT03204370 Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
34 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
35 Physical Activity, Motor Competence, Pulmonary Function, and Quality of Life in Children With Severe Spinal Disease Enrolling by invitation NCT03494829
36 ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program Enrolling by invitation NCT05368038
37 Identification and Characterization of Bone-related Genetic Variants in Families Terminated NCT02762318
38 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
39 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
40 Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA) Terminated NCT01733615
41 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Osteochondrodysplasia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


ELOSULFASE ALFA

Genetic Tests for Osteochondrodysplasia

Genetic tests related to Osteochondrodysplasia:

# Genetic test Affiliating Genes
1 Osteochondrodysplasia 28 SLC26A2
2 Skeletal Dysplasia 28

Anatomical Context for Osteochondrodysplasia

Organs/tissues related to Osteochondrodysplasia:

MalaCards : Bone, Bone Marrow, Brain, Spinal Cord, Thyroid, Temporal Lobe, Fetal Lung

Publications for Osteochondrodysplasia

Articles related to Osteochondrodysplasia:

(show top 50) (show all 3199)
# Title Authors PMID Year
1
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 53 62 5
11241838 2001
2
SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature. 62 5
34064542 2021
3
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. 62 5
26402641 2016
4
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 62 5
21922596 2012
5
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. 62 5
21965141 2011
6
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. 62 5
7923357 1994
7
Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. 5
31880411 2020
8
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. 5
30423444 2019
9
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. 5
31589614 2019
10
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. 5
30809705 2019
11
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. 5
27519266 2016
12
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. 5
23757202 2013
13
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 5
21155763 2011
14
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 5
21077202 2010
15
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. 5
20592910 2010
16
Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 5
20219950 2010
17
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 5
16642506 2006
18
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 5
15294877 2004
19
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 5
12525546 2003
20
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. 5
10814710 2000
21
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 5
10482955 1999
22
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 5
9637425 1998
23
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. 5
9298823 1997
24
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 5
8571951 1996
25
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 5
8528239 1996
26
A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis. 53 62
20305575 2010
27
Transient receptor potential vanilloid 4: The sixth sense of the musculoskeletal system? 53 62
20392266 2010
28
Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7. 53 62
19940018 2010
29
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. 53 62
20014132 2010
30
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 53 62
19622626 2009
31
New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. 53 62
19898608 2009
32
Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. 53 62
18789631 2009
33
Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene. 53 62
19789973 2009
34
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. 53 62
19258400 2009
35
Achondroplasia: manifestations and treatment. 53 62
19307672 2009
36
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. 53 62
19061984 2008
37
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 53 62
18708426 2008
38
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 53 62
18583390 2008
39
[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment]. 53 62
18797583 2008
40
Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome. 53 62
18424451 2008
41
[Mechanism of bone and cartilage growth during childhood and growth disorders]. 53 62
18445890 2008
42
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. 53 62
18382993 2008
43
Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. 53 62
19088846 2008
44
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 53 62
18000903 2007
45
Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. 53 62
17994562 2007
46
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. 53 62
17525745 2007
47
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. 53 62
17579668 2007
48
"Laminopathies": a wide spectrum of human diseases. 53 62
17467691 2007
49
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online. 53 62
17397052 2007
50
FGFR3 mutations in benign skin tumors. 53 62
17172848 2006

Variations for Osteochondrodysplasia

ClinVar genetic disease variations for Osteochondrodysplasia:

5 (show top 50) (show all 375)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC26A2 NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) MICROSAT Pathogenic
371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
2 COL1A2 NM_000089.4(COL1A2):c.2549G>A (p.Gly850Glu) SNV Pathogenic
374196 rs1057518967 GRCh37: 7:94052414-94052414
GRCh38: 7:94423102-94423102
3 COL1A1 NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) SNV Pathogenic
17326 rs66527965 GRCh37: 17:48270399-48270399
GRCh38: 17:50193038-50193038
4 FGFR3 NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) SNV Pathogenic
287276 rs886043613 GRCh37: 4:1803246-1803246
GRCh38: 4:1801519-1801519
5 overlap with 4 genes DEL Pathogenic
635966 GRCh37: X:44207077-45518941
GRCh38:
6 CTSK NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) SNV Pathogenic
Uncertain Significance
684727 rs1571122183 GRCh37: 1:150769360-150769360
GRCh38: 1:150796884-150796884
7 SLC26A2 NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) SNV Pathogenic
550616 rs1554095397 GRCh37: 5:149361143-149361143
GRCh38: 5:149981580-149981580
8 ALPL NM_000478.6(ALPL):c.360_361del (p.Val121fs) DEL Pathogenic
493003 rs751994699 GRCh37: 1:21889663-21889664
GRCh38: 1:21563170-21563171
9 COL2A1 NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp) SNV Pathogenic
492999 rs1209546147 GRCh37: 12:48374380-48374380
GRCh38: 12:47980597-47980597
10 ALPL NM_000478.6(ALPL):c.46_49del (p.Asn16fs) DEL Pathogenic
370095 rs1057516230 GRCh37: 1:21880617-21880620
GRCh38: 1:21554124-21554127
11 SLC26A2 NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) SNV Pathogenic
4092 rs104893919 GRCh37: 5:149357747-149357747
GRCh38: 5:149978184-149978184
12 SLC26A2 NM_000112.4(SLC26A2):c.-26+2T>C SNV Pathogenic
4097 rs386833492 GRCh37: 5:149340544-149340544
GRCh38: 5:149960981-149960981
13 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic
523434 rs1251713297 GRCh37: 16:68389688-68389688
GRCh38: 16:68355785-68355785
14 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic
523435 rs1014959895 GRCh37: 16:68363008-68363008
GRCh38: 16:68329105-68329105
15 overlap with 7 genes DEL Pathogenic
1684630 GRCh37: 17:8021110-8030264
GRCh38: 17:8117792-8126946
16 RAB33B NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter) SNV Pathogenic
1048093 rs1750416123 GRCh37: 4:140393990-140393990
GRCh38: 4:139472836-139472836
17 INPP5E NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) SNV Pathogenic
400 rs121918130 GRCh37: 9:139327634-139327634
GRCh38: 9:136433182-136433182
18 COPB1 NM_001144061.2(COPB1):c.2102A>G (p.Gln701Arg) SNV Pathogenic
1678525 GRCh37: 11:14490270-14490270
GRCh38: 11:14468724-14468724
19 SLC26A2 NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) DEL Pathogenic
4087 rs386833498 GRCh37: 5:149360879-149360879
GRCh38: 5:149981316-149981316
20 TRPV4 NM_021625.5(TRPV4):c.826A>G (p.Lys276Glu) SNV Pathogenic
30476 rs387906907 GRCh37: 12:110238450-110238450
GRCh38: 12:109800645-109800645
21 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic
16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
22 SLC26A2 NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del) MICROSAT Pathogenic
65558 rs121908077 GRCh37: 5:149360166-149360168
GRCh38: 5:149980603-149980605
23 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) SNV Pathogenic
4089 rs104893915 GRCh37: 5:149359991-149359991
GRCh38: 5:149980428-149980428
24 SLC26A2 NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) SNV Pathogenic
4098 rs104893924 GRCh37: 5:149361113-149361113
GRCh38: 5:149981550-149981550
25 GALNS NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) SNV Pathogenic
93178 rs398123438 GRCh37: 16:88904133-88904133
GRCh38: 16:88837725-88837725
26 COL1A2 NM_000089.4(COL1A2):c.838G>T (p.Gly280Cys) SNV Likely Pathogenic
1708366 GRCh37: 7:94038679-94038679
GRCh38: 7:94409367-94409367
27 SLC26A2 NM_000112.4(SLC26A2):c.700-1G>C SNV Likely Pathogenic
56027 rs200963884 GRCh37: 5:149359855-149359855
GRCh38: 5:149980292-149980292
28 SLC26A2 NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter) SNV Likely Pathogenic
495551 rs766836061 GRCh37: 5:149360863-149360863
GRCh38: 5:149981300-149981300
29 DYNC2H1 DEL Likely Pathogenic
635868 GRCh37: 11:103016472-103177263
GRCh38:
30 GALNS NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) SNV Likely Pathogenic
384194 rs569725936 GRCh37: 16:88902631-88902631
GRCh38: 16:88836223-88836223
31 SLC26A2 NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter) SNV Likely Pathogenic
928888 rs1755094376 GRCh37: 5:149360811-149360811
GRCh38: 5:149981248-149981248
32 SLC26A2 NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs) MICROSAT Likely Pathogenic
436750 rs1554095433 GRCh37: 5:149361276-149361277
GRCh38: 5:149981713-149981714
33 SLC26A2 NM_000112.4(SLC26A2):c.145del (p.Arg49fs) DEL Likely Pathogenic
928889 rs1265764649 GRCh37: 5:149357360-149357360
GRCh38: 5:149977797-149977797
34 SLC26A2 NM_000112.4(SLC26A2):c.2069_2070del (p.Val690fs) MICROSAT Likely Pathogenic
977711 rs1755106202 GRCh37: 5:149361223-149361224
GRCh38: 5:149981660-149981661
35 SLC26A2 NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter) SNV Likely Pathogenic
56026 rs386833507 GRCh37: 5:149357270-149357270
GRCh38: 5:149977707-149977707
36 SLC26A2 NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) DEL Likely Pathogenic
189077 rs786204675 GRCh37: 5:149357664-149357664
GRCh38: 5:149978101-149978101
37 SLC26A2 NM_000112.4(SLC26A2):c.844G>T (p.Gly282Cys) SNV Uncertain Significance
903771 rs571410872 GRCh37: 5:149360000-149360000
GRCh38: 5:149980437-149980437
38 SLC26A2 NM_000112.4(SLC26A2):c.*5077A>G SNV Uncertain Significance
903849 rs1430276243 GRCh37: 5:149366453-149366453
GRCh38: 5:149986890-149986890
39 SLC26A2 NM_000112.4(SLC26A2):c.1633C>T (p.Arg545Cys) SNV Uncertain Significance
903908 rs200897133 GRCh37: 5:149360789-149360789
GRCh38: 5:149981226-149981226
40 SLC26A2 NM_000112.4(SLC26A2):c.*5416A>C SNV Uncertain Significance
903909 rs1007945580 GRCh37: 5:149366792-149366792
GRCh38: 5:149987229-149987229
41 SLC26A2 NM_000112.4(SLC26A2):c.1786A>G (p.Lys596Glu) SNV Uncertain Significance
903979 rs1387357203 GRCh37: 5:149360942-149360942
GRCh38: 5:149981379-149981379
42 SLC26A2 NM_000112.4(SLC26A2):c.*220T>A SNV Uncertain Significance
904112 rs775637237 GRCh37: 5:149361596-149361596
GRCh38: 5:149982033-149982033
43 SLC26A2 NM_000112.4(SLC26A2):c.*1260C>T SNV Uncertain Significance
904284 rs568364063 GRCh37: 5:149362636-149362636
GRCh38: 5:149983073-149983073
44 SLC26A2 NM_000112.4(SLC26A2):c.*1935T>A SNV Uncertain Significance
904362 rs537754833 GRCh37: 5:149363311-149363311
GRCh38: 5:149983748-149983748
45 SLC26A2 NM_000112.4(SLC26A2):c.*2232A>T SNV Uncertain Significance
904422 rs1233972792 GRCh37: 5:149363608-149363608
GRCh38: 5:149984045-149984045
46 SLC26A2 NM_000112.4(SLC26A2):c.*2265C>T SNV Uncertain Significance
904423 rs1561826201 GRCh37: 5:149363641-149363641
GRCh38: 5:149984078-149984078
47 SLC26A2 NM_000112.4(SLC26A2):c.*3360A>T SNV Uncertain Significance
904686 rs1755178371 GRCh37: 5:149364736-149364736
GRCh38: 5:149985173-149985173
48 SLC26A2 NM_000112.4(SLC26A2):c.*3918C>T SNV Uncertain Significance
904762 rs192457706 GRCh37: 5:149365294-149365294
GRCh38: 5:149985731-149985731
49 SLC26A2 NM_000112.4(SLC26A2):c.*182C>G SNV Uncertain Significance
904825 rs770082455 GRCh37: 5:149361558-149361558
GRCh38: 5:149981995-149981995
50 SLC26A2 NM_000112.4(SLC26A2):c.*693G>T SNV Uncertain Significance
904950 rs974372860 GRCh37: 5:149362069-149362069
GRCh38: 5:149982506-149982506

Expression for Osteochondrodysplasia

Search GEO for disease gene expression data for Osteochondrodysplasia.

Pathways for Osteochondrodysplasia



Pathways directly related to Osteochondrodysplasia:

# Pathway Source
1 Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome Reactome 66

Pathways related to Osteochondrodysplasia according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 FGFR3 COMP COL2A1 COL1A2 COL1A1
2
Show member pathways
12.47 CTSK COMP COL2A1 COL1A2 COL1A1
3 12.01 FLNB COMP COL2A1 COL1A2 COL1A1
4
Show member pathways
11.89 COMP COL2A1 COL1A2 COL1A1
5 11.84 COL2A1 COL1A2 COL1A1
6 11.68 SOX9 FGFR3 COL2A1
7 11.53 FGFR3 COL1A2 COL1A1
8 11.42 COL2A1 COL1A2 COL1A1
9 11.34 COL1A1 COL1A2 COL2A1
10
Show member pathways
11.2 SOX9 PTHLH PTH1R FGFR3 COL2A1 ALPL
11 11.15 PTHLH PTH1R COL1A2 COL1A1
12 10.93 FGFR3 COL2A1 COL1A2 COL1A1
14 10.69 FGFR3 ALPL
15 10.69 SOX9 PTHLH PTH1R FGFR3

GO Terms for Osteochondrodysplasia

Cellular components related to Osteochondrodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.65 COMP COL2A1 COL1A2 COL1A1 ALPL
2 collagen type I trimer GO:0005584 8.92 COL1A2 COL1A1

Biological processes related to Osteochondrodysplasia according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 10.09 SOX9 COL2A1 COL1A2 COL1A1
2 cellular response to transforming growth factor beta stimulus GO:0071560 10.05 SOX9 CTSK COL1A1
3 response to insulin GO:0032868 10.03 TRPV4 CTSK COL1A1 ALPL
4 collagen fibril organization GO:0030199 10.01 COL1A1 COL1A2 COL2A1 COMP
5 cartilage development GO:0051216 9.98 SOX9 COMP COL2A1
6 chondrocyte differentiation GO:0002062 9.97 SOX9 PTH1R FGFR3 COL2A1
7 response to organic cyclic compound GO:0014070 9.93 SOX9 CTSK COL1A1 ALPL
8 limb bud formation GO:0060174 9.89 SOX9 COL2A1
9 notochord development GO:0030903 9.87 SOX9 COL2A1
10 endochondral ossification GO:0001958 9.86 FGFR3 COL2A1 COL1A1 ALPL
11 positive regulation of chondrocyte proliferation GO:1902732 9.84 SOX9 COMP
12 intramembranous ossification GO:0001957 9.83 COL1A1 CTSK
13 anterior head development GO:0097065 9.8 SOX9 COL2A1
14 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.8 TRPV4 COL2A1 COL1A1
15 bone mineralization GO:0030282 9.8 SOX9 PTHLH PTH1R FGFR3 COMP COL1A2
16 skeletal system morphogenesis GO:0048705 9.78 RAB33B COL2A1 COL1A1
17 ossification GO:0001503 9.76 COL1A1 COL2A1 COMP PTH1R SLC26A2 SOX9
18 endochondral bone growth GO:0003416 9.73 FGFR3 COMP
19 otic vesicle development GO:0071599 9.69 SOX9 COL2A1
20 skeletal system development GO:0001501 9.58 SOX9 PTHLH PTH1R FGFR3 COMP COL2A1

Molecular functions related to Osteochondrodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.86 COMP COL2A1 COL1A2 COL1A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.63 COL2A1 COL1A2 COL1A1
3 proteoglycan binding GO:0043394 9.43 CTSK COMP COL2A1
4 platelet-derived growth factor binding GO:0048407 9.1 COL2A1 COL1A2 COL1A1

Sources for Osteochondrodysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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