ACH
MCID: ACH004
MIFTS: 77

Achondroplasia (ACH) malady

Bone, Fetal categories

Summaries for Achondroplasia

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. it is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis of the spine. achondroplasia is caused by mutations in the fgfr3 gene. it is inherited in an autosomal dominant fashion. last updated: 8/4/2011

MalaCards: Achondroplasia, also known as ACH, is related to hypochondroplasia and thanatophoric dysplasia, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, frontal bossing/prominent forehead and generalized obesity. An important gene associated with Achondroplasia is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are FGFR1c and Klotho ligand binding and activation and FGFR1b ligand binding and activation. The compounds estrogen and SU4984 have been mentioned in the context of this disorder. Affiliated tissues include long bone, skin and spinal cord, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

Disease Ontology:8 An osteochondrodysplasia that results in dwarfism which has material basis in abnormal ossification of cartilage in located in long bone.

Genetics Home Reference:21 Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.

Wikipedia:64 Achondroplasia /eɪˌkɒndrɵˈpleɪziə/ is a common cause of dwarfism. It occurs as a sporadic... more...

Description from OMIM:47 100800

GeneReviews summary for achondroplasia

Aliases & Classifications for Achondroplasia

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
achondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Elderly


Aliases & Descriptions:

achondroplasia 8 9 64 19 43 20 22 21 47 10 45 49 61
ach 64 43 21
achondroplastic dwarfism 43 21
osteosclerosis congenita 8 64
dwarf, achondroplastic 64 21
chondrodystrophia 8 64
chondrodystrophy 43 45
congenital anomaly of cartilage 61
congenital osteosclerosis 64
chondrodystrophy syndrome 64
achondroplastic physique 8
achondrogenesis, type ib 61
acg1b 19


External Ids:

Disease Ontology8 DOID:4480
OMIM47 100800
MeSH35 D000130
NCIt40 C34345
ICD10 via Orphanet26 Q77.4
SNOMED-CT via Orphanet58 86268005
UMLS via Orphanet62 C0001080
MESH via Orphanet36 D000130
ICD1025 Q77.4

Related Diseases for Achondroplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Achondroplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 274)
idRelated DiseaseScoreTop Affiliating Genes
1hypochondroplasia31.0SHOX, FGFR2, FGF3, FGFR1, FGFR3
2thanatophoric dysplasia30.7COMP, FGFR2, FGFR3, PTH1R
3dwarfism30.7COMP, COL2A1, SOX9, NPPC, SHOX, MAP2K1
4pseudoachondroplasia30.2ACAN, COMP
5short stature30.2COMP, COL2A1, SHOX, MAP2K1, FGFR3
6skeletal dysplasias30.1FGFR2, FGFR1, FGFR3, ACAN, PTH1R, SHOX
7adenocarcinoma30.1NPPC, MAP2K1, FGFR2, FGFR1, F2RL2
8crouzon syndrome30.0MSX2, FGFR3, FGFR1, FGFR2
9synostosis30.0MSX2, FGFR3, FGFR1, FGFR2
10multiple epiphyseal dysplasia29.8ACAN, COMP
11muenke syndrome29.8FGFR3, FGFR1, FGFR2
12osteogenesis imperfecta29.8COL2A1, FGFR3, PTH1R
13thyroid cancer29.7FGFR2, MAPK10
14saddan10.5
15spinal stenosis10.4
16sleep apnea10.4
17alzheimer's disease10.3
18acanthosis nigricans10.3
19otospondylomegaepiphyseal dysplasia10.3
20achondroplasia and severe combined immunodeficiency10.3
21diastrophic dysplasia10.3
22schwartz jampel syndrome type 110.2
23neuronitis10.2
24achondrogenesis type ib10.2
25n syndrome10.2
26sleep disorder10.2
27hirschsprung's disease10.2
28endplate acetylcholinesterase deficiency10.2
29acute intermittent porphyria10.2
30acute porphyria10.2
31hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.1
32short rib-polydactyly syndrome type 210.1
33neurofibromatosis10.1
34spondyloepiphyseal dysplasia congenita10.1
35achondroplasia and swiss type agammaglobulinemia10.1
36enchondroma10.1
37vascular dementia10.1
38wernicke-korsakoff syndrome10.1
39junctional epidermolysis bullosa10.1
40phlebotomus fever10.1
41lewy body dementia10.1
42achalasia10.1
43rem sleep behavior disorder10.1
44gastroschisis10.1
45hypermethioninemia10.1
46congenital myasthenic syndrome10.1
47hemoglobinuria10.1
48colonic pseudo-obstruction10.1
49mumps10.1
50thyroiditis10.1

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to achondroplasia

Clinical Features for Achondroplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

100800

Clinical synopsis from OMIM:

100800

Symptoms:

49 (show all 41)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • frontal bossing/prominent forehead
  • generalized obesity
  • kyphosis
  • hyperhidrosis/increased sweating
  • apnea/sleep apnea
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • elocution disorders/dysarthria/dysphonia
  • autosomal dominant inheritance
  • lordosis
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • hydrocephaly
  • hypotonia
  • depressed nasal bridge
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • chronic/relapsing otitis
  • bowed diaphysis/diaphyses/long bones
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • abnormal vertebral size/shape
  • restricted joint mobility/joint stiffness/ankylosis
  • anteverted nares/nostrils
  • short stature/dwarfism/nanism
  • mid-facial hypoplasia/short/small midface
  • metaphyseal anomaly
  • anomalies of the ribs
  • narrow rib cage/thorax
  • short hand/brachydactyly
  • hyperextensible joints/articular hyperlaxity
  • death in infancy
  • enlarged diaphysis/diaphyses
  • dilated cerebral ventricles without hydrocephaly
  • rhizomelic micromelia
  • intrauterine growth retardation
  • conductive deafness/hearing loss
  • elbow dislocation
  • genu varum
  • rachidian/spine canal stenosis
  • long rib cage/thorax
  • elbow anomalies(excluding luxation)
  • acanthosis nigricans

Drugs & Therapeutics for Achondroplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Achondroplasia

Drug clinical trials:

Search ClinicalTrials for Achondroplasia

Search NIH Clinical Center for Achondroplasia

Search CenterWatch for Achondroplasia

Genetic Tests for Achondroplasia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Achondroplasia:

id Genetic test Affiliating Genes
1 Achondroplasia20 22 FGFR3

Anatomical Context for Achondroplasia

Sources:
33MalaCards, 14FMA
See all sources

MalaCards organs/tissues related to Achondroplasia:

33
Skin, Spinal cord, Brain, Lung, Bone marrow, Skeletal muscle, Small intestine, Testis, Myeloid, Fetal brain, Fetal lung, Pituitary

FMA organs/tissues related to Achondroplasia:

14
Long bone

Animal Models for Achondroplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Achondroplasia:

37 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.6COL2A1, FGFR2, FGFR3, FGFR4, FGF9, ACAN
2MP:00053799.6BMP8B, MAP2K1, FGFR2, FGFR1, MSX2, SPRY2
3MP:00053719.4SPRY2, COMP, COL2A1, NPPC, FGF3, FGF9
4MP:00053699.4COMP, SOX9, FGFR1, FGF9, ACAN, MSX2
5MP:00107719.4MAP2K1, FGFR2, FGFR1, FGF9, MSX2
6MP:00053899.3NPPC, BMP8B, MAP2K1, FGFR2, FGF3, FGFR3
7MP:00053779.3COL2A1, SOX9, MAP2K1, FGF3, FGFR3, FGF9
8MP:00053919.2COL2A1, SOX9, MAP2K1, FGFR2, FGFR1, FGFR3
9MP:00053809.1COL2A1, SOX9, BMP8B, MAP2K1, FGFR2, FGF3
10MP:00053859.0COL2A1, SOX9, MAP2K1, MAPK10, FGFR2, FGFR1
11MP:00028739.0COMP, COL2A1, SOX9, MAP2K1, FGFR2, FGF3
12MP:00053848.9BMP8B, MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3
13MP:00053868.9COMP, COL2A1, SOX9, MAPK10, FGFR2, FGF3
14MP:00053908.9FGFR2, NPPC, SOX9, COL2A1, COMP, FGF3
15MP:00053878.9COMP, COL2A1, SOX9, BMP8B, FGFR2, FGFR1
16MP:00053828.8FGFR2, MAP2K1, NPPC, SOX9, COL2A1, FGFR1
17MP:00036318.8COL2A1, SOX9, NPPC, MAP2K1, MAPK10, FGFR2
18MP:00053818.7FGFR1, FGFR2, MAP2K1, SOX9, COL2A1, FGFR3
19MP:00053768.6SOX9, NPPC, MAP2K1, MAPK10, FGFR2, FGFR3
20MP:00107688.3FGFR2, MAP2K1, BMP8B, NPPC, SOX9, COL2A1
21MP:00053787.9FGFR2, MAP2K1, BMP8B, NPPC, SOX9, COL2A1

Publications for Achondroplasia

Sources:
51PubMed
See all sources

Articles related to Achondroplasia:

(show top 50)    (show all 518)
idTitleAuthorsYear
1
Neurologic manifestations of achondroplasia. (24365319)
2014
2
Achondroplasia associated with bilateral keratoconus. (23259098)
2012
3
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. (23200862)
2012
4
Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma. (20963478)
2011
5
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. (20034074)
2010
6
Achondroplasia: manifestations and treatment. (19307672)
2009
7
Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. (18199430)
2008
8
An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. (17683901)
2008
9
Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. (18485666)
2008
10
Thoracic and lumbar pedicle morphometry in achondroplasia. (16957649)
2007
11
PTH has the potential to rescue disturbed bone growth in achondroplasia. (17466614)
2007
12
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. (16912704)
2006
13
Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial. (16299871)
2005
14
Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia. (15371713)
2004
15
Spinal fusion for kyphosis in achondroplasia. (15308905)
2004
16
Correction of lumbosacral hyperlordosis in achondroplasia. (12966299)
2003
17
The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. (12397172)
2002
18
Growth hormone therapy in achondroplasia. (10971105)
2000
19
Expression of FGFR3 with the G380R achondroplasia mutation inhibits proliferation and maturation of CFK2 chondrocytic cells. (10646125)
2000
20
Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations. (9949360)
1999
21
Whole body bone mass and body composition in a girl with achondroplasia, at ages 9 through 12. (10499979)
1999
22
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. (9869286)
1998
23
Medical complications of achondroplasia: a multicentre patient review. (9733026)
1998
24
Sequence, structure and chromosomal localization of Crtm gene encoding mouse cartilage matrix protein and its exclusion as a candidate for murine achondroplasia. (9569124)
1998
25
Hydrocephalus and chronically increased intracranial pressure in achondroplasia. (9272288)
1997
26
Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. (8923856)
1996
27
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. (9001669)
1996
28
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia. (8878289)
1996
29
Standard weight for height curves in achondroplasia. (8882783)
1996
30
Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375) (8599370)
1995
31
Cervicomedullary compression in achondroplasia. (8207526)
1994
32
Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia? (1952787)
1991
33
Leg lengthening: patient selection and management in achondroplasia. (1945337)
1991
34
Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. (2293921)
1990
35
Narrowing of thoraco-lumbar spinal canal in achondroplasia. (2677264)
1989
36
MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. (2763957)
1989
37
Human achondroplasia. A multidisciplinary approach. Proceedings of the first international symposium. November 19-21, 1986, Rome, Italy. Volume dedicated to Dr. Alexander Hollaender. (3071353)
1988
38
Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. (3240272)
1988
39
Cervicomedullary cord compression in young children with achondroplasia: value of comprehensive neurologic and respiratory evaluation. (3240254)
1988
40
Kyphosis in achondroplasia: probably preventable. (3335958)
1988
41
Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction. (3602395)
1987
42
Achondroplasia: effectiveness of an orthosis in reducing deformity of the spine. (3592956)
1987
43
Surgery for achondroplasia. Perioperative challenges of dwarfism. (3650052)
1987
44
Speculation on the role of transposable elements in human genetic disease with particular attention to achondroplasia and the fragile X syndrome. (3006492)
1986
45
Long-term neurological sequelae in achondroplasia. (6510432)
1984
46
Apnea as the sole manifestation of cord compression in achondroplasia. (6707795)
1984
47
Brain tumor and achondroplasia: a case report and review of the literature. (6472587)
1984
48
Choanal atresia with achondroplasia. (7351612)
1980
49
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. (458831)
1979
50
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. (4697848)
1973

Genetic Variations for Achondroplasia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Achondroplasia:

63
id Symbol AA change Variation SNP ID
1FGFR3p.Gly375CysVAR_004154
2FGFR3p.Gly380ArgVAR_004155rs28931614
3FGFR3p.Lys650MetVAR_004161

Expression for genes affiliated with Achondroplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Achondroplasia

Search GEO for disease gene expression data for Achondroplasia.

Pathways for genes affiliated with Achondroplasia

Sources:
54Reactome, 52QIAGEN, 53R&D Systems, 4Cell Signaling Technology, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 50PharmGKB, 60Tocris Bioscience, 56SinoBiological
See all sources

Pathways related to Achondroplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2FGFR1, FGFR4
2
Hide members
10.2FGFR2, FGF3
3
Hide members
10.2MAP2K1, FGFR2
4
Hide members
10.0COL2A1, MAP2K1, FGFR1
510.0COL2A1, ACAN, COMP
610.0FGFR2, FGFR1, FGFR4, FGFR3
710.0FGFR4, FGFR3, FGFR1, FGFR2
810.0FGFR4, FGFR3, FGFR1, FGFR2
9
Hide members
10.0FGFR2, FGFR1, FGFR3, FGFR4
1010.0FGFR1, FGFR4, FGFR2, FGFR3
119.9FGFR4, SPRY2, FGFR1, FGFR2
12
Hide members
9.9MAPK10, F2RL2, MAP2K1
139.8MAP2K1, FGF3, FGFR1, FGF9
14
Hide members
9.8FGFR4, FGFR3, FGFR1, FGFR2, MAP2K1
15
Hide members
9.8FGFR2, MAP2K1, FGFR1, FGFR4, FGFR3
16
Hide members
9.8FGFR4, FGFR3, FGFR1, MAPK10, FGFR2
17
Hide members
9.8FGFR2, FGFR4, FGFR3, FGFR1, MAPK10
18
Hide members
9.8FGFR4, FGFR3, FGFR2, FGFR1, MAPK10
19
Hide members
9.8COL2A1, COMP, MAP2K1, MAPK10
20
Hide members
9.6FGF9, FGFR4, FGFR3, FGFR1, FGF3, FGFR2
21
Hide members
9.6FGFR2, FGF3, FGFR3, FGFR1, FGF9, FGFR4
22
Hide members
9.6FGFR2, FGF3, FGFR1, FGFR3, FGF9, FGFR4
239.6FGFR2, FGFR1, MSX2, SOX9, FGFR3, COL2A1
24
Hide members
9.6FGFR3, FGFR1, FGFR2, MAP2K1, COL2A1, FGFR4
25
Hide members
9.6MAP2K1, MAPK10, FGFR4, FGFR2, FGFR3, FGFR1
26
Hide members
9.6MAP2K1, FGFR1, MAPK10, FGFR2, FGFR3, FGFR4
27
Hide members
9.6MAP2K1, FGFR1, MAPK10, FGFR2, FGFR3, FGFR4
28
Hide members
9.6FGFR2, MAPK10, MAP2K1, FGFR3, FGFR4, FGFR1
29
Hide members
9.6MAPK10, FGFR4, FGFR1, FGFR2, MAP2K1, FGFR3
30
Hide members
9.6FGFR3, MAP2K1, MAPK10, FGFR2, FGFR4, FGFR1
31
Hide members
9.6FGFR1, MAPK10, FGFR3, FGFR4, FGFR2, MAP2K1
329.5PTH1R, ACAN, FGFR3, FGFR1, SOX9, COL2A1
33
Hide members
9.4FGFR4, FGF9, FGFR3, FGFR1, FGF3, FGFR2
34
Hide members
9.4FGFR1, MAP2K1, FGFR2, FGF3, FGFR3, FGF9
35
Hide members
9.4FGFR1, FGFR3, FGFR4, FGF9, FGFR2, FGF3
36
Hide members
9.4MAP2K1, FGF3, FGFR2, FGFR1, FGFR3, FGF9
37
Hide members
9.4FGFR2, FGF9, FGFR4, FGFR3, FGFR1, MAPK10
389.3FGF3, MAPK10, FGFR2, FGFR1, FGFR3, FGF9
39
Hide members
9.3FGF9, SPRY2, FGFR2, FGF3, FGFR3, FGFR1
40
Hide members
9.2COL2A1, FGFR4, FGFR3, SOX9, MAP2K1, MAPK10
41
Development FGF-family signaling
Hide members
9.2FGFR4, MAP2K1, MAPK10, FGFR2, FGFR3, FGF3
42
Hide members
9.2MAPK10, MAP2K1, FGFR2, FGFR1, FGFR3, FGFR4
43
Hide members
9.2FGFR2, MAP2K1, MAPK10, FGF3, FGFR1, FGFR3
44
Hide members
9.2FGFR2, FGF3, FGFR3, FGFR4, FGF9, MAPK10
45
Hide members
9.2FGFR1, FGFR3, FGFR2, FGF3, FGFR4, MAPK10
469.1COL2A1, COMP, FGFR4, FGF3, FGF9, FGFR3
479.0FGFR2, FGF9, FGFR4, FGFR3, FGFR1, FGF3
48
Hide members
9.0FGF9, FGFR1, FGFR4, COL2A1, FGFR2, FGF3
49
Hide members
9.0F2RL2, FGF9, FGFR3, FGFR1, FGF3, FGFR2
50
Hide members
8.6SPRY2, FGFR1, PTH1R, FGF9, FGFR4, FGFR3

Compounds for genes affiliated with Achondroplasia

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Achondroplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1estrogen4510.6SHOX
2SU49841110.6FGFR1, FGFR2
3su54024510.5FGFR2, FGFR1, FGFR3
4glutamate4510.5F2RL2
5heparin45 29 11 2413.5FGF9, FGF3
6su 54026010.4FGFR4, FGFR2, FGFR1, FGFR3
7pd 1615706010.4FGFR2, FGFR1, FGFR3, FGFR4
8fiin 1 hydrochloride6010.4FGFR2, FGFR1, FGFR3, FGFR4
9pd 17307445 6011.4FGFR2, FGFR1, FGFR3, FGFR4
10palifermin45 1111.4FGFR2, FGFR1, FGFR3, FGFR4
11Ponatinib 1110.4FGFR2, FGFR1, FGFR3, FGFR4
12pentosidine4510.4COMP, COL2A1, ACAN
13procollagen4510.3COL2A1, ACAN
14heparan sulfate45 2411.2FGFR2, FGFR1, FGFR4, ACAN
15alginate4510.2COMP, COL2A1, SOX9, ACAN
16pge24510.2PTH1R, ACAN, F2RL2
17imatinib45 50 1112.2FGFR3, FGFR1, MAPK10, MAP2K1
18chondroitin sulfate45 2411.1ACAN, FGFR1, FGFR2, SOX9, COMP
19glyceraldehyde 3-phosphate4510.1ACAN, FGFR1, FGFR2, SOX9
20sulfate45 2411.1COMP, COL2A1, FGFR2, FGFR3, ACAN
21agar4510.1FGFR1, FGF3, FGFR2, MAP2K1
22glycosaminoglycan4510.1ACAN, FGFR2, SOX9, COL2A1, COMP
23ribonucleic acid4510.1PTH1R, FGFR1, FGFR2, SOX9
24serine4510.1COL2A1, SOX9, MAP2K1, FGFR3, PTH1R
25vitamin d4510.0COMP, COL2A1, FGFR2, ACAN, PTH1R
26dexamethasone45 50 29 1113.0COL2A1, NPPC, MAP2K1, ACAN, PTH1R
27pd 98,0594510.0MAP2K1, MAPK10, FGFR2, FGFR1, ACAN
28phosphotyrosine4510.0MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3, FGFR4
29lysine4510.0COL2A1, MAP2K1, FGFR2, FGFR1, FGFR3
30genistein45 29 60 2 11 2415.0NPPC, MAP2K1, MAPK10, FGFR2, FGFR1
31paclitaxel45 50 1112.0FGFR2, MAPK10, MAP2K1
32forskolin45 50 1112.0PTH1R, FGFR1, MAPK10, MAP2K1, NPPC
3312-o-tetradecanoylphorbol 13-acetate459.9FGFR1, FGFR2, MAPK10, MAP2K1
34adenylate459.9NPPC, MAPK10, FGFR2, FGFR1, PTH1R
35thymidine45 2410.9NPPC, MAP2K1, MAPK10, FGFR2, FGFR1, PTH1R
36proline459.9COMP, SOX9, MAP2K1, FGFR2, ACAN, PTH1R
37nitric oxide45 11 2411.9COL2A1, NPPC, MAP2K1, FGFR1, ACAN, PTH1R
38oligonucleotide459.9COMP, COL2A1, FGFR2, FGF3, FGFR1, FGFR3
39sb 20358045 6010.9MAP2K1, MAPK10, FGFR1, ACAN
40histamine45 29 2411.8FGFR1, MAPK10, MAP2K1, NPPC
41threonine459.8NPPC, MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3
42cysteine459.8COMP, COL2A1, NPPC, MAP2K1, FGFR2, FGFR1
43suramin45 29 1111.7FGFR1, FGFR2, MAPK10
44steroid459.6COMP, SOX9, SHOX, MAP2K1, FGFR2, FGF3
45testosterone45 60 11 2412.6SOX9, NPPC, MAP2K1, FGFR2, FGFR1
46glucose459.6COMP, NPPC, MAP2K1, FGFR2, FGFR1, F2RL2
47tyrosine459.4NPPC, MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3
48retinoic acid45 2410.3COMP, COL2A1, SOX9, NPPC, MAP2K1, MAPK10
49vegf459.3SOX9, MAP2K1, MAPK10, FGFR2, FGF3, FGFR1
50calcium45 50 11 2411.6MAPK10, BMP8B, NPPC, COL2A1, COMP, FGFR2

GO Terms for genes affiliated with Achondroplasia

Sources:
16Gene Ontology
See all sources

Cellular components related to Achondroplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:01602310.1FGFR3, FGFR1, FGFR2
2integral to plasma membraneGO:0058879.3FGFR2, FGFR1, FGFR3, FGFR4, F2RL2, PTH1R
3extracellular regionGO:0055768.6ACAN, COMP, COL2A1, NPPC, FGFR2, FGF3

Biological processes related to Achondroplasia according to GeneCards/GeneDecks:

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1alveolar secondary septum developmentGO:06114410.6FGFR3, FGFR4
2fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.5FGFR2, FGFR1
3ventricular zone neuroblast divisionGO:02184710.5FGFR1, FGFR2
4endochondral bone growthGO:00341610.5FGFR3, MSX2
5positive regulation of phospholipase activityGO:01051810.5FGFR3, FGFR1, FGFR2
6positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.5FGFR3, FGFR1
7negative regulation of mitosisGO:04583910.5FGFR3, FGFR2
8mesenchymal cell differentiationGO:04876210.4FGFR1, FGFR2
9otic vesicle formationGO:03091610.4SOX9, FGFR2, FGF3
10organ inductionGO:00175910.4FGF3, FGFR1, FGFR4
11limb bud formationGO:06017410.4FGFR2, SOX9, COL2A1
12lung-associated mesenchyme developmentGO:06048410.4FGF9, FGFR1, FGFR2
13lens fiber cell developmentGO:07030710.4FGFR3, FGFR2
14positive regulation of cardiac muscle cell proliferationGO:06004510.3FGF9, FGFR1, FGFR2
15peptidyl-tyrosine phosphorylationGO:01810810.3FGFR2, FGFR1, FGFR3, FGFR4
16notochord developmentGO:03090310.3SOX9, COL2A1
17positive regulation of cell divisionGO:05178110.3FGF9, FGF3, FGFR2
18positive regulation of canonical Wnt receptor signaling pathwayGO:09026310.3FGF9, FGFR3, FGFR2
19MAPK cascadeGO:00016510.3MAP2K1, FGFR1, FGFR3
20protein autophosphorylationGO:04677710.3FGFR2, FGFR1, FGFR3, FGFR4
21positive regulation of epithelial cell proliferationGO:05067910.2SOX9, FGFR2, FGF9
22positive regulation of MAPK cascadeGO:04341010.2FGFR2, FGFR1, FGFR3, FGF9
23positive regulation of ERK1 and ERK2 cascadeGO:07037410.2FGFR2, FGFR3, FGFR4, SPRY2
24positive regulation of mesenchymal cell proliferationGO:00205310.2SOX9, FGFR2, FGFR1, FGF9
25branching involved in salivary gland morphogenesisGO:06044510.2FGFR2, FGFR1
26outflow tract septum morphogenesisGO:00314810.1FGFR2, MSX2
27chondrocyte differentiationGO:00206210.1COL2A1, FGFR1, FGFR3, FGF9, PTH1R
28cartilage developmentGO:05121610.1COL2A1, SOX9, BMP8B
29ossificationGO:00150310.0SOX9, NPPC, BMP8B
30phosphatidylinositol-mediated signalingGO:04801510.0FGFR2, FGF3, FGFR1, FGFR3, FGFR4, FGF9
31inner ear morphogenesisGO:04247210.0COL2A1, FGFR2, FGFR1, FGF9, SPRY2
32sensory perception of soundGO:00760510.0SPRY2, FGFR1, COL2A1
33negative regulation of cell proliferationGO:0082859.9NPPC, MAP2K1, FGFR2, MSX2, PTH1R, SPRY2
34extracellular matrix organizationGO:0301989.9COMP, COL2A1, SOX9, ACAN
35insulin receptor signaling pathwayGO:0082869.8MAP2K1, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
36tissue homeostasisGO:0018949.8SOX9, COL2A1
37neurotrophin TRK receptor signaling pathwayGO:0480119.8MAP2K1, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
38negative regulation of apoptotic processGO:0430669.7COMP, COL2A1, SOX9, FGFR1, FGFR3, MSX2
39positive regulation of cell proliferationGO:0082849.7SOX9, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
40Fc-epsilon receptor signaling pathwayGO:0380959.6MAP2K1, MAPK10, FGFR2, FGF3, FGFR1, FGFR3
41fibroblast growth factor receptor signaling pathwayGO:0085439.6MAP2K1, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
42innate immune responseGO:0450879.6MAP2K1, MAPK10, FGFR2, FGF3, FGFR1, FGFR3
43epidermal growth factor receptor signaling pathwayGO:0071739.5SOX9, MAP2K1, FGFR2, FGF3, FGFR1, FGFR3
44skeletal system developmentGO:0015019.4PTH1R, COMP, COL2A1, SOX9, BMP8B, SHOX

Molecular functions related to Achondroplasia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00500710.1FGFR2, FGFR1, FGFR3, FGFR4
2MAP kinase kinase activityGO:00470810.1MAP2K1, MAPK10
3fibroblast growth factor bindingGO:01713410.1FGFR2, FGFR4, FGFR1, FGFR3
4protein tyrosine kinase activityGO:0047139.8MAP2K1, FGFR2, FGFR1, FGFR3, FGFR4
5protein serine/threonine kinase activator activityGO:0435399.8SPRY2, MAP2K1
6heparin bindingGO:0082019.7FGF9, FGFR4, FGFR1, FGFR2, COMP
7protein bindingGO:0055158.2COMP, SOX9, SHOX, MAP2K1, SPRY2, MSX2

Products for genes affiliated with Achondroplasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Achondroplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet