Osteochondrodysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

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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:

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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

Sources

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

Synonyms:

(N-C3H7)2chcooh

(S)-2-Propyl-4-pentanoate

(S)-2-Propyl-4-pentanoic acid

2 Propylpentanoic acid

2-N-PROPYL-4-PENTENOIC ACID

2-N-Propyl-N-valerate

2-N-Propyl-N-valeric acid

2-Propylpentanoate

2-PROPYL-pentanoate

2-Propylpentanoic acid

2-PROPYL-pentanoIC ACID

2-Propylvalerate

2-Propylvaleric acid

44089

4-Heptanecarboxylate

4-Heptanecarboxylic acid

A-44090

A-44090|Depakote®|Epilim®|valproate sodium

Acetate, dipropyl

Acid, propylisopropylacetic

Acid, valproic

Acide valproique

acide valproïque

Acido valproico

ácido valproico

Acidum valproicum

Alti-valproic

Apo-divalproex

Apo-valproic

Apo-valproic syrup

Avugane

Baceca

Calcium valproate

Calcium, valproate

Convulex

Convulsofin

Delepsine

Depacon

Depakene

Depakin

Depakin chrono

Depakine

Depakine chrono

Depakote

Deproic

Di-N-propylacetate

Di-N-propylacetic acid

Di-N-propylessigsaeure

Di-N-propylessigsaure

Di-n-propylessigsäure

Dipropyl acetate

Dipropylacetate

Dipropylacetic acid

Divalproex

Divalproex sodium

DOM-divalproex

Dom-valproate

DOM-valproic

Dom-valproic acid

DOM-valproic acid e.c.

Dom-valproic acid syrup

DPA

Epiject i.v.

Epilex

Epilim

Epival

Epival er

Ergenyl

Gen-divalproex

Kyselina 2-propylvalerova

LEP321

Magnesium valproate

Med valproic

Mylproin

Myproate

Myproic acid

N-Dipropylacetic acid

N-DPA

Novo-divalproex

Novo-valproic

Novo-valproic - ecc

Novo-valproic soft gel cap

NSC-93819

Nu-valproic

PEAC

Penta-valproic

PHL-Valproate

PHL-Valproic acid

PHL-Valproic acid e.c.

PMS-Divalproex

PMS-Valproate

PMS-Valproic acid

PMS-Valproic acid e.c.

Propylisopropylacetic acid

Propylvaleric acid

Ratio-valproic - ecc

S(-)-4-En-valproate

S(-)-4-En-valproic acid

S-2-N-Propyl-4-pentenoate

S-2-N-Propyl-4-pentenoic acid

Sandoz valproic

Savicol

Semisodium valproate

Sodium hydrogen divalproate

Sodium valproate

Sodium, divalproex

Sodium, valproate

Sprinkle

STAVZOR

Valcote

Valparin

Valproate

Valproate calcium

Valproate semisodique [French]

Valproate semisodium

Valproate sodium

Valproate, calcium

Valproate, magnesium

Valproate, semisodium

Valproate, sodium

Valproato semisodico [Spanish]

Valproatum seminatricum [Latin]

VALPROIC ACID

Valproic acid usp

Valproic acid USP24

Valproic acid, sodium salt (2:1)

Valproinsaeure

Valproinsäure

VPA

Vupral

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

Sources

Genetic Tests for Osteochondrodysplasia

Genetic tests related to Osteochondrodysplasia:

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

Sources

Anatomical Context for Osteochondrodysplasia

Organs/tissues related to Osteochondrodysplasia:

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

Sources

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	Rossi A...Superti-Furga A	11241838	2001
2	SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature. ⁶² ⁵	Harkonen H...Makitie O	34064542	2021
3	Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. ⁶² ⁵	Bae JS...Cho TJ	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	Jackson GC...Briggs MD	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	Kim OH...Park SS	21965141	2011
6	The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. ⁶² ⁵	Hastbacka J...Weaver A	7923357	1994
7	Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. ⁵	Sato T...Yamada T	31880411	2020
8	Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. ⁵	Kausar M...Makitie O	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	Capalbo A...Rodriguez JM	31589614	2019
10	Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. ⁵	Zanetti A...Tomanin R	30809705	2019
11	Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. ⁵	Ho Duy B...Koks S	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	Bean LJ...Hegde MR	23757202	2013
13	Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. ⁵	Barbosa M...Bonafe L	21155763	2011
14	Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. ⁵	Dwyer E...Pauli RM	21077202	2010
15	Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. ⁵	Cho TJ...Choi IH	20592910	2010
16	Regulated transport of sulfate and oxalate by SLC26A2/DTDST. ⁵	Heneghan JF...Alper SL	20219950	2010
17	A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. ⁵	Maeda K...Ikegawa S	16642506	2006
18	Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. ⁵	Karniski LP	15294877	2004
19	Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. ⁵	Ballhausen D...Superti-Furga A	12525546	2003
20	Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. ⁵	Sukegawa K...Kondo N	10814710	2000
21	Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). ⁵	Hastbacka J...Lander ES	10482955	1999
22	Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. ⁵	Cai G...Ozono K	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	Bunge S...Gal A	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	Hastbacka J...Lander ES	8571951	1996
25	Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ⁵	Superti-Furga A...Gitzelmann R	8528239	1996
26	A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis. ⁵³ ⁶²	Khan B...Ahmad W	20305575	2010
27	Transient receptor potential vanilloid 4: The sixth sense of the musculoskeletal system? ⁵³ ⁶²	Guilak F...Liedtke W	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	Zwerger M...Herrmann H	19940018	2010
29	Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. ⁵³ ⁶²	El-Gharbawy AH...Rimoin DL	20014132	2010
30	Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. ⁵³ ⁶²	Alatzoglou KS...Dattani MT	19622626	2009
31	New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. ⁵³ ⁶²	Schibler L...Legeai-Mallet L	19898608	2009
32	Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. ⁵³ ⁶²	Pavone V...Sessa G	18789631	2009
33	Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene. ⁵³ ⁶²	Trujillo-Tiebas MJ...Ayuso C	19789973	2009
34	Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. ⁵³ ⁶²	Fukami M...Ogata T	19258400	2009
35	Achondroplasia: manifestations and treatment. ⁵³ ⁶²	Shirley ED...Ain MC	19307672	2009
36	PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. ⁵³ ⁶²	Decker E...Weber BH	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	Bonafe L...Rossi A	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	Castro-Feijoo L...Pombo M	18583390	2008
39	[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment]. ⁵³ ⁶²	Jorge AA...Mendonca BB	18797583	2008
40	Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome. ⁵³ ⁶²	Napierala D...Lee B	18424451	2008
41	[Mechanism of bone and cartilage growth during childhood and growth disorders]. ⁵³ ⁶²	Ozono K	18445890	2008
42	Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. ⁵³ ⁶²	Konstantinidou A...Petersen MB	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	Krejci P...Wilcox WR	19088846	2008
44	Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. ⁵³ ⁶²	Leroy JG...Mortier GR	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	Bleyl SB...Carey JC	17994562	2007
46	Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. ⁵³ ⁶²	Pollock PM...Goodfellow PJ	17525745	2007
47	Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. ⁵³ ⁶²	Tufan AC...Yagci B	17579668	2007
48	"Laminopathies": a wide spectrum of human diseases. ⁵³ ⁶²	Worman HJ...Bonne G	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	Donnarumma M...Filocamo M	17397052	2007
50	FGFR3 mutations in benign skin tumors. ⁵³ ⁶²	Hafner C...Hartmann A	17172848	2006

Sources

Genes for Osteochondrodysplasia

Genes related to Osteochondrodysplasia (13 elite genes):

(show top 50) (show all 216)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SLC26A2	Solute Carrier Family 26 Member 2	Protein Coding	561.34	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	8528239 8571951 9637425 (more) 10482955 12525546 15294877 16642506 20219950 20592910 21155763 21922596 21965141 26402641 30423444 31880411 7923357 11241838 21077202 31589614 34064542 12966518 18708426 14692227 11008738 9575183 11570921
2	GALNS	Galactosamine (N-Acetyl)-6-Sulfatase	Protein Coding	438.25	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10814710 23757202 30809705 (more) 9298823 8910459
3	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	435.76	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9745773 9987576 18000903 (more) 15772091 11526491 9438390 9887329 8754806 17172848 12833394 19789973 11472579 16274647 18445890 11772395 10053006 9857065 17320202 12884421 10377013 19215249 19073250 18198189 16476447 15863030 10861678 15748888 15105428 11414167 10207844 9302269 19088846 17509076 17103447 10696568 19622626 18923003 18485666 19901323 19898608 19422094 17561467 15492779 11314002 8702122 19307672 11181569 10587515 9677066 18583390 18794123 9315632 11325814
4	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	434.13	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	27519266
5	CTSK	Cathepsin K	Protein Coding	423.48	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11008738 14753734 10571690 (more) 20305575 9529353 17397052
6	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	418.22	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15054848 14729840 15643621
7	RAB33B	RAB33B, Member RAS Oncogene Family	Protein Coding	412.93	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
8	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	408.99	Pathogenic ⁵ DISEASES inferred ¹⁴
9	TRPV4	Transient Receptor Potential Cation Channel Subfamily V Member 4	Protein Coding	407.37	Pathogenic ⁵ DISEASES inferred ¹⁴
10	ALPL	Alkaline Phosphatase, Biomineralization Associated	Protein Coding	406.91	Pathogenic ⁵ DISEASES inferred ¹⁴
11	INPP5E	Inositol Polyphosphate-5-Phosphatase E	Protein Coding	403.07	Pathogenic ⁵ DISEASES inferred ¹⁴
12	COPB1	COPI Coat Complex Subunit Beta 1	Protein Coding	400	Pathogenic ⁵
13	PRMT7	Protein Arginine Methyltransferase 7	Protein Coding	400	Pathogenic ⁵
14	FLNB	Filamin B	Protein Coding	38.73	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	17606870 19453265 16752402
15	DYNC2H1	Dynein Cytoplasmic 2 Heavy Chain 1	Protein Coding	31.35	Likely pathogenic ⁵ DISEASES inferred ¹⁴
16	SOX9	SRY-Box Transcription Factor 9	Protein Coding	30.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	20392266 9119111 11008738
17	COMP	Cartilage Oligomeric Matrix Protein	Protein Coding	28.7	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11008738 17579668 9756911 (more) 18855621 9923655 17588960 11470401 12792737 16514635 19237461 15749701 11013461 12483304 12768438 10852928 11223338 15266613 11084047 17200202 15183431 15694129 18789631 19276170 16214313 12766479 17889519
18	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	28.27	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19061984 16274647 15525660 (more) 8855805 9391087
19	DYM	Dymeclin	Protein Coding	23.09	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
20	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	22.01	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8314082 9008714 9391087 (more) 9856827
21	TAPT1	Transmembrane Anterior Posterior Transformation 1	Protein Coding	20.83	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
22	SHOX	Short Stature Homeobox	Protein Coding	18.2	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18797583 11503314 18228171 (more) 17994562
23	TRAPPC2	Trafficking Protein Particle Complex Subunit 2	Protein Coding	18.13	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11443194 10431248
24	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	16.9	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15952089 9434946 18424451 (more) 20014132
25	COL10A1	Collagen Type X Alpha 1 Chain	Protein Coding	16.89	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16845471
26	COL11A2	Collagen Type XI Alpha 2 Chain	Protein Coding	16.74	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7859284
27	PAPSS2	3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2	Protein Coding	16.45	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12716056
28	RMRP	RNA Component Of Mitochondrial RNA Processing Endoribonuclease	RNA Gene	14.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17189938 17701897
29	FLNA	Filamin A	Protein Coding	14.56	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16538226 19773341 14988809 (more) 16596676
30	ABCC9	ATP Binding Cassette Subfamily C Member 9	Protein Coding	14.32	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
31	NPPC	Natriuretic Peptide C	Protein Coding	14.3	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19282381
32	KCNJ8	Potassium Inwardly Rectifying Channel Subfamily J Member 8	Protein Coding	14.15	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
33	RNU4ATAC	RNA, U4atac Small Nuclear	RNA Gene	13.68	DISEASES inferred ¹⁴ ¹⁴
34	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	13.3	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11325814 17525745 15863030 (more) 15796961 17697126
35	ACAN	Aggrecan	Protein Coding	13.01	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1670752
36	LEMD3	LEM Domain Containing 3	Protein Coding	12.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17467691
37	ANKH	ANKH Inorganic Pyrophosphate Transport Regulator	Protein Coding	12.21	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
38	CHST11	Carbohydrate Sulfotransferase 11	Protein Coding	11.93	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
39	GJA1	Gap Junction Protein Alpha 1	Protein Coding	11.8	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
40	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	10.31	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10861678 15863030
41	LBR	Lamin B Receptor	Protein Coding	10.06	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16784888 18382993 19940018
42	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	10.03	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19088846
43	POR	Cytochrome P450 Oxidoreductase	Protein Coding	9.66	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19258400 16103714
44	CYP17A1	Cytochrome P450 Family 17 Subfamily A Member 1	Protein Coding	9.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10460013
45	GNAS	GNAS Complex Locus	Protein Coding	9.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15289771
46	MIA2	MIA SH3 Domain ER Export Factor 2	Protein Coding	9.04	DISEASES inferred ¹⁴ ¹⁴
47	MMP13	Matrix Metallopeptidase 13	Protein Coding	8.75	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16167086
48	CRTAP	Cartilage Associated Protein	Protein Coding	8.56	DISEASES inferred ¹⁴
49	HSPG2	Heparan Sulfate Proteoglycan 2	Protein Coding	8.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11038441
50	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	8.25	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Osteochondrodysplasia

Search GEO for disease gene expression data for Osteochondrodysplasia.

Sources

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	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	12.73	FGFR3 COMP COL2A1 COL1A2 COL1A1
2	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	12.47	CTSK COMP COL2A1 COL1A2 COL1A1
3	Focal adhesion ⁷⁴	12.01	FLNB COMP COL2A1 COL1A2 COL1A1
4	ECM proteoglycans ⁶⁶ Show member pathways Integrin cell surface interactions ⁶⁶ MED and pseudoachondroplasia genes ⁷⁴	11.89	COMP COL2A1 COL1A2 COL1A1
5	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	11.84	COL2A1 COL1A2 COL1A1
6	Neural crest differentiation ⁷⁴	11.68	SOX9 FGFR3 COL2A1
7	Burn wound healing ⁷⁴	11.53	FGFR3 COL1A2 COL1A1
8	Cell adhesion_ECM remodeling ²²	11.42	COL2A1 COL1A2 COL1A1
9	Integrins in angiogenesis ⁶¹	11.34	COL1A1 COL1A2 COL2A1
10	Endochondral ossification ⁷⁴ Show member pathways Endochondral ossification with skeletal dysplasias ⁷⁴	11.2	SOX9 PTHLH PTH1R FGFR3 COL2A1 ALPL
11	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.15	PTHLH PTH1R COL1A2 COL1A1
12	Syndecan-1-mediated signaling events ⁶¹	10.93	FGFR3 COL2A1 COL1A2 COL1A1
13	FGF23 signaling in hypophosphatemic rickets and related disorders ⁷⁴	10.89	FGFR3 ALPL
14	NOTCH1 regulation of endothelial cell calcification ⁷⁴	10.69	FGFR3 ALPL
15	FGFR3 signaling in chondrocyte proliferation and terminal differentiation ⁷⁴	10.69	SOX9 PTHLH PTH1R FGFR3

Sources

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

Sources for Osteochondrodysplasia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: OST015 MIFTS: 60	Osteochondrodysplasia Categories: Bone diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Drugs Expand all tables

Osteochondrodysplasia

Aliases & Classifications for Osteochondrodysplasia

MalaCards integrated aliases for Osteochondrodysplasia:

Classifications:

External Ids:

Summaries for Osteochondrodysplasia

Related Diseases for Osteochondrodysplasia

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

Graphical network of the top 20 diseases related to Osteochondrodysplasia:

Symptoms & Phenotypes for Osteochondrodysplasia

MGI Mouse Phenotypes related to Osteochondrodysplasia:

Drugs & Therapeutics for Osteochondrodysplasia

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

Interventional clinical trials:

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

Genetic Tests for Osteochondrodysplasia

Genetic tests related to Osteochondrodysplasia:

Anatomical Context for Osteochondrodysplasia

Organs/tissues related to Osteochondrodysplasia:

Publications for Osteochondrodysplasia

Articles related to Osteochondrodysplasia:

Genes for Osteochondrodysplasia

Genes related to Osteochondrodysplasia (13 elite genes):

Variations for Osteochondrodysplasia

ClinVar genetic disease variations for Osteochondrodysplasia:

Expression for Osteochondrodysplasia

Pathways for Osteochondrodysplasia

Pathways directly related to Osteochondrodysplasia:

Pathways related to Osteochondrodysplasia according to GeneCards Suite gene sharing:

GO Terms for Osteochondrodysplasia

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

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

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

Sources for Osteochondrodysplasia

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