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MCID: OST015
MIFTS: 60

Osteochondrodysplasia

Categories: Bone diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Osteochondrodysplasia

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MalaCards integrated aliases for Osteochondrodysplasia:

Name: Osteochondrodysplasia 12 29 6 15 17
Skeletal Dysplasia 12 29 54 6
Chondrodystrophy 12 73 20 54
Osteochondrodysplasias 20 54 70
Congenital Anomaly of Cartilage 12 70
Cartilage Development Disorder 12
Osteochondrodysplasia Syndrome 12
Mucopolysaccharidosis Iv 70
Skeletal Dysplasias 20
Dysplasia, Skeletal 39

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:2256
ICD9CM 34 756.4
MeSH 44 D010009
SNOMED-CT 67 205510001 67988000
UMLS 70 C0008449 C0026707 C0029422
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Summaries for Osteochondrodysplasia

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Disease Ontology : 12 A bone development disease that results in defective development of cartilage or bone.

MalaCards based summary : Osteochondrodysplasia, also known as skeletal dysplasia, is related to eiken syndrome and diastrophic dysplasia. An important gene associated with Osteochondrodysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Focal Adhesion and Degradation of the extracellular matrix. The drugs Risedronate and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related phenotypes are growth/size/body region and cellular

Wikipedia : 73 Chondrodystrophy (literally, "cartilage maldevelopment") refers to a skeletal disorder caused by one of... more...

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Related Diseases for Osteochondrodysplasia

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

(show top 50) (show all 809)
# Related Disease Score Top Affiliating Genes
1 eiken syndrome 33.2 PTHLH PTH1R
2 diastrophic dysplasia 32.4 SLC26A2 COMP COL2A1
3 pseudoachondroplasia 32.4 SLC26A2 COMP COL2A1
4 brittle bone disorder 32.4 SOX9 PTHLH PTH1R FGFR3 CTSK COMP
5 achondroplasia 32.4 SOX9 PTH1R FGFR3 COMP COL2A1 COL1A1
6 achondrogenesis 32.4 SLC26A2 FGFR3 COMP COL2A1
7 metaphyseal chondrodysplasia, jansen type 32.3 PTHLH PTH1R FGFR3
8 spondyloepimetaphyseal dysplasia 32.3 TRPV4 SOX9 DYM COL2A1 COL1A2
9 thanatophoric dysplasia, type i 32.3 PTH1R FGFR3 COMP
10 cleidocranial dysplasia 32.3 SOX9 PTH1R COL1A1 ALPL
11 metaphyseal dysplasia 32.2 PTHLH PTH1R DYM COL2A1
12 metachondromatosis 32.2 PTHLH PTH1R CTSK COL2A1
13 multiple epiphyseal dysplasia 32.2 SLC26A2 COMP COL2A1
14 brachyolmia 32.2 TRPV4 SLC26A2 COL2A1
15 epiphyseal dysplasia, multiple, 2 32.1 SLC26A2 COMP
16 hypochondrogenesis 32.1 SLC26A2 COL2A1
17 platyspondylic lethal skeletal dysplasia, torrance type 32.1 COMP COL2A1
18 spondyloepiphyseal dysplasia, maroteaux type 32.1 TRPV4 DYM
19 atelosteogenesis 31.9 SLC26A2 FLNB
20 scoliosis 31.6 TRPV4 SOX9 FLNB FGFR3 CTSK COMP
21 brachydactyly 31.6 TRPV4 PTHLH PRMT7 FGFR3 COMP COL2A1
22 spondyloepiphyseal dysplasia with congenital joint dislocations 31.4 TRPV4 SLC26A2 FLNB FGFR3 COMP COL2A1
23 dwarfism 31.3 TRPV4 FGFR3 DYM
24 hypertrichosis 31.3 SOX9 KCNJ8 ABCC9
25 cleft palate, isolated 31.2 SOX9 INPP5E FLNB FGFR3 COL2A1
26 clubfoot 31.2 TRPV4 SLC26A2 INPP5E COL2A1
27 osteogenesis imperfecta, type iii 31.2 DYNC2H1 COL1A2 COL1A1
28 arthropathy 31.1 TRPV4 COMP COL2A1 ALPL
29 spondyloepiphyseal dysplasia congenita 31.1 DYM COMP COL2A1
30 achondrogenesis, type ii 31.1 SLC26A2 COMP COL2A1
31 bone disease 31.0 PTHLH PTH1R FLNB FGFR3 CTSK COMP
32 osteoporosis 30.9 SLC26A2 PTHLH PTH1R CTSK COL2A1 COL1A2
33 type ii collagen disorders 30.9 TRPV4 COL2A1
34 metatropic dysplasia 30.8 TRPV4 SOX9 COL2A1
35 bone resorption disease 30.8 PTHLH PTH1R CTSK COL1A2 COL1A1
36 osteogenesis imperfecta, type v 30.8 COL1A2 COL1A1
37 enchondromatosis, multiple, ollier type 30.8 PTHLH PTH1R COL2A1
38 osteoporosis, juvenile 30.8 CTSK COL1A2 COL1A1
39 collagen disease 30.8 COL2A1 COL1A2 COL1A1
40 stickler syndrome 30.7 SOX9 COL2A1 COL1A2 COL1A1
41 spinal stenosis 30.7 COL2A1 COL1A2 COL1A1
42 endosteal hyperostosis, autosomal dominant 30.7 CTSK COL1A2 COL1A1
43 cartilage disease 30.7 SOX9 COMP COL2A1
44 autosomal recessive disease 30.7 SLC26A2 PRMT7 CTSK COL1A2
45 pfeiffer syndrome 30.7 FGFR3 COL1A1 ALPL
46 osteogenesis imperfecta, type ii 30.6 FGFR3 COL1A2 COL1A1 ALPL
47 hyperostosis 30.6 COL1A2 COL1A1 ALPL
48 osteogenesis imperfecta, type vii 30.6 PTH1R COL1A2 COL1A1
49 pseudohypoparathyroidism 30.6 PTHLH PTH1R FGFR3
50 patent ductus arteriosus 1 30.5 KCNJ8 INPP5E ABCC9

Graphical network of the top 20 diseases related to Osteochondrodysplasia:



Diseases related to Osteochondrodysplasia
Sources

Symptoms & Phenotypes for Osteochondrodysplasia

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MGI Mouse Phenotypes related to Osteochondrodysplasia:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.49 ABCC9 ALPL COL1A1 COL1A2 COL2A1 COMP
2 cellular MP:0005384 10.45 ABCC9 ALPL COL1A1 COL1A2 COL2A1 COMP
3 cardiovascular system MP:0005385 10.43 ABCC9 ALPL COL1A1 COL1A2 COL2A1 COMP
4 homeostasis/metabolism MP:0005376 10.41 ABCC9 ALPL COL1A1 COL1A2 COL2A1 COMP
5 behavior/neurological MP:0005386 10.38 ABCC9 ALPL COL1A1 COL1A2 COL2A1 COMP
6 craniofacial MP:0005382 10.38 ALPL COL1A1 COL2A1 CTSK DYM DYNC2H1
7 limbs/digits/tail MP:0005371 10.31 ALPL COL1A1 COL1A2 COL2A1 COMP CTSK
8 mortality/aging MP:0010768 10.31 ABCC9 ALPL COL1A1 COL1A2 COL2A1 DYM
9 digestive/alimentary MP:0005381 10.3 ALPL COL1A1 COL2A1 CTSK DYNC2H1 FGFR3
10 hematopoietic system MP:0005397 10.27 ALPL COL1A1 COL1A2 CTSK DYM FGFR3
11 immune system MP:0005387 10.27 ALPL COL1A1 COL1A2 COL2A1 COMP CTSK
12 nervous system MP:0003631 10.25 ABCC9 ALPL COL1A1 COL1A2 COL2A1 CTSK
13 adipose tissue MP:0005375 10.12 ALPL COL1A1 COL1A2 COL2A1 PRMT7 PTHLH
14 muscle MP:0005369 10.02 ABCC9 ALPL COL1A1 COL1A2 COMP KCNJ8
15 renal/urinary system MP:0005367 9.91 COL1A1 COL2A1 DYM DYNC2H1 FGFR3 INPP5E
16 respiratory system MP:0005388 9.9 ALPL COL1A1 COL2A1 CTSK DYNC2H1 FGFR3
17 skeleton MP:0005390 9.89 ALPL COL1A1 COL1A2 COL2A1 COMP CTSK
18 vision/eye MP:0005391 9.28 COL1A1 COL2A1 DYNC2H1 FGFR3 INPP5E PTH1R
Sources

Drugs & Therapeutics for Osteochondrodysplasia

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
2 Hormones Phase 4
3 Diphosphonates Phase 4
4 calcium channel blockers Phase 4
5 Calcium, Dietary Phase 4
6 Vaccines Phase 4
7
Calcium Nutraceutical Phase 4 7440-70-2 271
8
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
9
Losartan Approved Phase 2 114798-26-4 3961
10
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
11
Morphine Approved, Investigational Phase 2 57-27-2 5288826
12 Psychotropic Drugs Phase 2
13 Anticonvulsants Phase 2
14 Neurotransmitter Agents Phase 2
15 Histone Deacetylase Inhibitors Phase 2
16 Anti-Arrhythmia Agents Phase 2
17 Angiotensin II Type 1 Receptor Blockers Phase 2
18 Angiotensin Receptor Antagonists Phase 2
19 Giapreza Phase 2
20 Angiotensinogen Phase 2
21 Antihypertensive Agents Phase 2
22 Anesthetics Phase 2
23 Pharmaceutical Solutions

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study Recruiting NCT04152551 Phase 4 Risedronate Oral Tablet
2 Immunodeficiency in Cartilage-hair Hypoplasia: Correlation With Pulmonary Disease, Infections and Malignancy Active, not recruiting NCT02383797 Phase 4
3 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
4 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
5 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
6 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
7 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Recruiting NCT03632213 Phase 2 Losartan;Placebo
8 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2
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;BMN 110
10 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
11 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
12 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation: A Phase I Study Completed NCT00186914 Phase 1
13 Physical Activity, Motor Competence, Pulmonary Function, and Quality of Life in Children With Severe Spinal Disease Unknown status NCT03494829
14 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
15 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
16 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
17 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
18 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
19 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
20 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
21 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
22 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
23 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
24 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Completed NCT03150069
25 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
26 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
27 Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses Recruiting NCT04624789
28 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
29 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
30 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
31 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]
32 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Enrolling by invitation NCT03548779
33 Natural History of Morquio B and Late-Onset GM1 Gangliosidosis Not yet recruiting NCT04320329
34 Identification and Characterization of Bone-related Genetic Variants in Families Terminated NCT02762318
35 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
36 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
37 Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA) Terminated NCT01733615
38 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Osteochondrodysplasia

Inferred drug relations via UMLS 70 / NDF-RT 51 :


ELOSULFASE ALFA
Sources

Genetic Tests for Osteochondrodysplasia

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Genetic tests related to Osteochondrodysplasia:

# Genetic test Affiliating Genes
1 Osteochondrodysplasia 29 SLC26A2
2 Skeletal Dysplasia 29
Sources

Anatomical Context for Osteochondrodysplasia

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MalaCards organs/tissues related to Osteochondrodysplasia:

40
Bone, Bone Marrow, Heart, Thyroid, Brain, Spinal Cord, Temporal Lobe
Sources

Publications for Osteochondrodysplasia

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Articles related to Osteochondrodysplasia:

(show top 50) (show all 2584)
# 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. 6 61 54
11241838 2001
2
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. 61 6
26402641 2016
3
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. 6 61
21922596 2012
4
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. 61 6
21965141 2011
5
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. 61 6
7923357 1994
6
Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. 6
31880411 2020
7
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. 6
30423444 2019
8
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 6
21155763 2011
9
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 6
21077202 2010
10
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. 6
20592910 2010
11
Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 6
20219950 2010
12
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 6
16642506 2006
13
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 6
15294877 2004
14
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 6
12525546 2003
15
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 6
10482955 1999
16
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 6
9637425 1998
17
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 6
8571951 1996
18
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 6
8528239 1996
19
A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis. 54 61
20305575 2010
20
Transient receptor potential vanilloid 4: The sixth sense of the musculoskeletal system? 61 54
20392266 2010
21
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. 61 54
20014132 2010
22
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. 61 54
19940018 2010
23
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 54 61
19622626 2009
24
New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. 61 54
19898608 2009
25
Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. 61 54
18789631 2009
26
Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene. 54 61
19789973 2009
27
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. 54 61
19258400 2009
28
Achondroplasia: manifestations and treatment. 61 54
19307672 2009
29
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. 61 54
19061984 2008
30
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 54 61
18708426 2008
31
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 54 61
18583390 2008
32
[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment]. 54 61
18797583 2008
33
Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome. 61 54
18424451 2008
34
[Mechanism of bone and cartilage growth during childhood and growth disorders]. 61 54
18445890 2008
35
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. 54 61
18382993 2008
36
Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. 54 61
19088846 2008
37
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 61 54
18000903 2007
38
Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. 61 54
17994562 2007
39
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. 61 54
17525745 2007
40
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. 61 54
17579668 2007
41
"Laminopathies": a wide spectrum of human diseases. 61 54
17467691 2007
42
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online. 54 61
17397052 2007
43
FGFR3 mutations in benign skin tumors. 54 61
17172848 2006
44
Deletions in the COL10A1 gene are not associated with skeletal changes in dogs. 61 54
16845471 2006
45
Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis. 61 54
16784888 2006
46
Dysregulation of chondrogenesis in human cleidocranial dysplasia. 61 54
15952089 2005
47
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 54 61
15772091 2005
48
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. 61 54
15643621 2005
49
Disorders of androgen synthesis--from cholesterol to dehydroepiandrosterone. 61 54
16103714 2005
50
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. 54 61
15525660 2005
Sources

Variations for Osteochondrodysplasia

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ClinVar genetic disease variations for Osteochondrodysplasia:

6 (show top 50) (show all 370)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL1A2 NM_000089.3(COL1A2):c.2549G>A (p.Gly850Glu) SNV Pathogenic 374196 rs1057518967 GRCh37: 7:94052414-94052414
GRCh38: 7:94423102-94423102
2 TRPV4 NM_021625.4(TRPV4):c.1566_1568dupCCT Duplication Pathogenic 126465 rs515726155 GRCh37: 12:110231750-110231751
GRCh38: 12:109793945-109793946
3 overlap with 4 genes Deletion Pathogenic 635966 GRCh37: X:44207077-45518941
GRCh38:
4 ALPL NM_000478.6(ALPL):c.360_361del (p.Val121fs) Deletion Pathogenic 493003 rs751994699 GRCh37: 1:21889663-21889664
GRCh38: 1:21563170-21563171
5 COL1A1 NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser) SNV Pathogenic 17326 rs66527965 GRCh37: 17:48270399-48270399
GRCh38: 17:50193038-50193038
6 TRPV4 NM_021625.4(TRPV4):c.2396_2412del (p.Pro799fs) Deletion Pathogenic 126478 rs515726166 GRCh37: 12:110222167-110222183
GRCh38: 12:109784362-109784378
7 COL2A1 NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp) SNV Pathogenic 492999 rs1209546147 GRCh37: 12:48374380-48374380
GRCh38: 12:47980597-47980597
8 FGFR3 NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) SNV Pathogenic 287276 rs886043613 GRCh37: 4:1803246-1803246
GRCh38: 4:1801519-1801519
9 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic 523434 rs1251713297 GRCh37: 16:68389688-68389688
GRCh38: 16:68355785-68355785
10 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic 523435 rs1014959895 GRCh37: 16:68363008-68363008
GRCh38: 16:68329105-68329105
11 INPP5E NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) SNV Pathogenic 400 rs121918130 GRCh37: 9:139327634-139327634
GRCh38: 9:136433182-136433182
12 CTSK NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) SNV Pathogenic 684727 rs1571122183 GRCh37: 1:150769360-150769360
GRCh38: 1:150796884-150796884
13 ALPL NM_000478.6(ALPL):c.46_49del (p.Asn16fs) Deletion Pathogenic 370095 rs1057516230 GRCh37: 1:21880617-21880620
GRCh38: 1:21554124-21554127
14 SLC26A2 NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) Deletion Pathogenic 4087 rs386833498 GRCh37: 5:149360879-149360879
GRCh38: 5:149981316-149981316
15 SLC26A2 NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) Microsatellite Pathogenic 65558 rs121908077 GRCh37: 5:149360166-149360168
GRCh38: 5:149980603-149980605
16 SLC26A2 NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) Microsatellite Pathogenic 371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
17 TRPV4 NM_021625.4(TRPV4):c.547G>A (p.Glu183Lys) SNV Pathogenic 18437 rs387906324 GRCh37: 12:110246113-110246113
GRCh38: 12:109808308-109808308
18 TRPV4 NM_021625.4(TRPV4):c.597G>C (p.Leu199Phe) SNV Pathogenic 126479 rs515726167 GRCh37: 12:110240911-110240911
GRCh38: 12:109803106-109803106
19 TRPV4 NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) SNV Pathogenic 30472 rs387906904 GRCh37: 12:110240814-110240814
GRCh38: 12:109803009-109803009
20 TRPV4 NM_021625.4(TRPV4):c.1805A>G (p.Tyr602Cys) SNV Pathogenic 30468 rs267607150 GRCh37: 12:110230476-110230476
GRCh38: 12:109792671-109792671
21 TRPV4 NM_021625.4(TRPV4):c.992T>C (p.Ile331Thr) SNV Pathogenic 126486 rs515726172 GRCh37: 12:110236579-110236579
GRCh38: 12:109798774-109798774
22 TRPV4 NM_021625.4(TRPV4):c.1851C>A (p.Phe617Leu) SNV Pathogenic 126472 rs515726162 GRCh37: 12:110230208-110230208
GRCh38: 12:109792403-109792403
23 TRPV4 NM_021625.4(TRPV4):c.2146G>T (p.Ala716Ser) SNV Pathogenic 4996 rs121912635 GRCh37: 12:110226267-110226267
GRCh38: 12:109788462-109788462
24 TRPV4 NM_021625.4(TRPV4):c.1024G>T (p.Val342Phe) SNV Pathogenic 126462 rs515726152 GRCh37: 12:110236547-110236547
GRCh38: 12:109798742-109798742
25 TRPV4 NM_021625.4(TRPV4):c.232G>T (p.Gly78Trp) SNV Pathogenic 30474 rs397514474 GRCh37: 12:110252370-110252370
GRCh38: 12:109814565-109814565
26 TRPV4 NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) SNV Pathogenic 4993 rs121912633 GRCh37: 12:110230201-110230201
GRCh38: 12:109792396-109792396
27 TRPV4 NM_021625.4(TRPV4):c.883A>G (p.Thr295Ala) SNV Pathogenic 126485 rs515726171 GRCh37: 12:110236688-110236688
GRCh38: 12:109798883-109798883
28 TRPV4 NM_021625.4(TRPV4):c.1787T>C (p.Leu596Pro) SNV Pathogenic 126469 rs515726159 GRCh37: 12:110230494-110230494
GRCh38: 12:109792689-109792689
29 TRPV4 NM_021625.4(TRPV4):c.998A>G (p.Asp333Gly) SNV Pathogenic 4995 rs121912634 GRCh37: 12:110236573-110236573
GRCh38: 12:109798768-109798768
30 TRPV4 NM_021625.4(TRPV4):c.2395C>T (p.Pro799Ser) SNV Pathogenic 18431 rs267607147 GRCh37: 12:110222184-110222184
GRCh38: 12:109784379-109784379
31 TRPV4 NM_021625.4(TRPV4):c.1772A>G (p.Tyr591Cys) SNV Pathogenic 126467 rs515726157 GRCh37: 12:110230509-110230509
GRCh38: 12:109792704-109792704
32 TRPV4 NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) SNV Pathogenic 126480 rs187864727 GRCh37: 12:110240859-110240859
GRCh38: 12:109803054-109803054
33 TRPV4 NM_021625.4(TRPV4):c.1853T>C (p.Leu618Pro) SNV Pathogenic 126473 rs515726163 GRCh37: 12:110230206-110230206
GRCh38: 12:109792401-109792401
34 TRPV4 NM_021625.4(TRPV4):c.717G>C (p.Gln239His) SNV Pathogenic 126482 rs515726169 GRCh37: 12:110238559-110238559
GRCh38: 12:109800754-109800754
35 TRPV4 NM_021625.4(TRPV4):c.1812C>G (p.Ile604Met) SNV Pathogenic 126471 rs515726161 GRCh37: 12:110230469-110230469
GRCh38: 12:109792664-109792664
36 TRPV4 NM_021625.4(TRPV4):c.1875G>A (p.Met625Ile) SNV Pathogenic 126474 rs515726164 GRCh37: 12:110230184-110230184
GRCh38: 12:109792379-109792379
37 TRPV4 NM_021625.4(TRPV4):c.1219A>G (p.Lys407Glu) SNV Pathogenic 126463 rs515726153 GRCh37: 12:110234443-110234443
GRCh38: 12:109796638-109796638
38 TRPV4 NM_021625.4(TRPV4):c.2330G>A (p.Cys777Tyr) SNV Pathogenic 126477 rs515726165 GRCh37: 12:110224521-110224521
GRCh38: 12:109786716-109786716
39 TRPV4 NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr) SNV Pathogenic 30469 rs387906902 GRCh37: 12:110231365-110231365
GRCh38: 12:109793560-109793560
40 TRPV4 NM_021625.4(TRPV4):c.2396C>G (p.Pro799Arg) SNV Pathogenic 18432 rs121912637 GRCh37: 12:110222183-110222183
GRCh38: 12:109784378-109784378
41 TRPV4 NM_021625.4(TRPV4):c.826A>G (p.Lys276Glu) SNV Pathogenic 30476 rs387906907 GRCh37: 12:110238450-110238450
GRCh38: 12:109800645-109800645
42 TRPV4 NM_021625.4(TRPV4):c.991A>T (p.Ile331Phe) SNV Pathogenic 4997 rs121912636 GRCh37: 12:110236580-110236580
GRCh38: 12:109798775-109798775
43 TRPV4 NM_021625.4(TRPV4):c.1847G>A (p.Arg616Gln) SNV Pathogenic 4992 rs121912632 GRCh37: 12:110230212-110230212
GRCh38: 12:109792407-109792407
44 TRPV4 NM_021625.4(TRPV4):c.266C>T (p.Thr89Ile) SNV Pathogenic 30470 rs397514473 GRCh37: 12:110252336-110252336
GRCh38: 12:109814531-109814531
45 TRPV4 NM_021625.4(TRPV4):c.590A>G (p.Lys197Arg) SNV Pathogenic 30471 rs387906903 GRCh37: 12:110240918-110240918
GRCh38: 12:109803113-109803113
46 TRPV4 NM_021625.4(TRPV4):c.1774T>C (p.Phe592Leu) SNV Pathogenic 126468 rs515726158 GRCh37: 12:110230507-110230507
GRCh38: 12:109792702-109792702
47 TRPV4 NM_021625.4(TRPV4):c.1798G>T (p.Gly600Trp) SNV Pathogenic 126470 rs515726160 GRCh37: 12:110230483-110230483
GRCh38: 12:109792678-109792678
48 TRPV4 NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) SNV Pathogenic 4993 rs121912633 GRCh37: 12:110230201-110230201
GRCh38: 12:109792396-109792396
49 TRPV4 NM_021625.4(TRPV4):c.2125C>A (p.Leu709Met) SNV Pathogenic 126475 rs116571438 GRCh37: 12:110226288-110226288
GRCh38: 12:109788483-109788483
50 TRPV4 NM_021625.4(TRPV4):c.2219C>T (p.Thr740Ile) SNV Pathogenic 30475 rs387906906 GRCh37: 12:110224632-110224632
GRCh38: 12:109786827-109786827
Sources

Expression for Osteochondrodysplasia

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Search GEO for disease gene expression data for Osteochondrodysplasia.
Sources

Pathways for Osteochondrodysplasia

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Pathways related to Osteochondrodysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Focal Adhesion 36 1
Show member pathways
 12.6 FLNB COMP COL2A1 COL1A2 COL1A1
2
Degradation of the extracellular matrix 65
Show member pathways
 12.37 CTSK COMP COL2A1 COL1A2 COL1A1
3
ECM-receptor interaction 36
Show member pathways
 11.65 COMP COL2A1 COL1A2 COL1A1
4
Neural Crest Differentiation 1
11.59 SOX9 FGFR3 COL2A1
5
Cell adhesion_ECM remodeling 23
11.22 COL2A1 COL1A2 COL1A1
6
Endochondral Ossification 1
10.91 SOX9 PTHLH PTH1R FGFR3 COL2A1 ALPL
7
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
10.85 PTHLH PTH1R COL1A2 COL1A1
8
NOTCH1 regulation of human endothelial cell calcification 1
10.71 FGFR3 ALPL
9
Osteoblast Signaling 1
10.51 PTH1R COL1A1
Sources

GO Terms for Osteochondrodysplasia

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

# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 9.5 COL2A1 COL1A2 COL1A1
2 extracellular matrix GO:0031012 9.35 COMP COL2A1 COL1A2 COL1A1 ALPL
3 inward rectifying potassium channel GO:0008282 9.26 KCNJ8 ABCC9
4 potassium ion-transporting ATPase complex GO:0031004 9.16 KCNJ8 ABCC9
5 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.85 SOX9 COMP COL2A1 COL1A2 COL1A1
2 cartilage development GO:0051216 9.73 TAPT1 SOX9 COMP COL2A1
3 collagen fibril organization GO:0030199 9.71 COMP COL2A1 COL1A2 COL1A1
4 chondrocyte differentiation GO:0002062 9.67 SOX9 PTH1R FGFR3 COL2A1
5 negative regulation of chondrocyte differentiation GO:0032331 9.62 SOX9 PTHLH
6 cartilage condensation GO:0001502 9.61 SOX9 COL2A1
7 chondrocyte development GO:0002063 9.61 SOX9 COMP
8 osteoblast development GO:0002076 9.6 PTHLH PTH1R
9 positive regulation of cartilage development GO:0061036 9.59 TAPT1 SOX9
10 inorganic cation transmembrane transport GO:0098662 9.58 KCNJ8 ABCC9
11 chondrocyte proliferation GO:0035988 9.58 FGFR3 COMP
12 limb bud formation GO:0060174 9.57 SOX9 COL2A1
13 skin morphogenesis GO:0043589 9.56 COL1A2 COL1A1
14 endochondral ossification GO:0001958 9.56 FGFR3 COL2A1 COL1A1 ALPL
15 notochord development GO:0030903 9.55 SOX9 COL2A1
16 bone mineralization GO:0030282 9.55 PTHLH PTH1R FGFR3 COMP COL1A2
17 endochondral bone growth GO:0003416 9.54 FGFR3 COMP
18 otic vesicle development GO:0071599 9.52 SOX9 COL2A1
19 intramembranous ossification GO:0001957 9.51 CTSK COL1A1
20 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.5 TRPV4 COL2A1 COL1A1
21 ossification GO:0001503 9.5 TAPT1 SOX9 SLC26A2 PTH1R COMP COL2A1
22 positive regulation of chondrocyte proliferation GO:1902732 9.49 SOX9 COMP
23 anterior head development GO:0097065 9.48 SOX9 COL2A1
24 skeletal system development GO:0001501 9.28 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 protease binding GO:0002020 9.58 COMP COL1A2 COL1A1
2 extracellular matrix structural constituent GO:0005201 9.46 COMP COL2A1 COL1A2 COL1A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.43 COL2A1 COL1A2 COL1A1
4 cation-transporting ATPase activity GO:0019829 9.37 KCNJ8 ABCC9
5 ATP-activated inward rectifier potassium channel activity GO:0015272 9.32 KCNJ8 ABCC9
6 proteoglycan binding GO:0043394 9.13 CTSK COMP COL2A1
7 platelet-derived growth factor binding GO:0048407 8.8 COL2A1 COL1A2 COL1A1
Sources

Sources for Osteochondrodysplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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