MCID: ACH004
MIFTS: 65

Achondroplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Achondroplasia

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Achondroplasia:

Name: Achondroplasia 49 10 11 68 21 45 22 23 47 12 51 67 36 24 65
Ach 68 45 23 67
Achondroplastic Dwarfism 45 23 65
Osteosclerosis Congenita 10 68
 
Dwarf, Achondroplastic 68 23
Chondrodystrophia 10 68
Chondrodystrophy Syndrome 68
Achondroplastic Physique 10

Characteristics:

Orphanet epidemiological data:

51
achondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Italy),1-9/100000 (Sweden),1-9/100000 (Spain),1-9/100000 (Denmark),1-9/100000 (United States),1-9/100000 (Latin America),1-9/100000 (Australia); Age of onset: Neonatal; Age of death: elderly

HPO:

61
achondroplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 100800
Disease Ontology10 DOID:4480
ICD1027 Q77.4
MeSH36 D000130
NCIt42 C34345
Orphanet51 15
UMLS via Orphanet66 C0001080
ICD10 via Orphanet28 Q77.4
MESH via Orphanet37 D000130
MedGen34 C0001080
UMLS65 C0001080, C2930793

Summaries for Achondroplasia

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NIH Rare Diseases:45 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: 11/12/2015

MalaCards based summary: Achondroplasia, also known as ach, is related to saddan and cataract, and has symptoms including limb undergrowth, depressed nasal bridge and hyperlordosis. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Bladder cancer and Central carbon metabolism in cancer. Affiliated tissues include long bone, bone and breast, and related mouse phenotypes are digestive/alimentary and craniofacial.

Disease Ontology:10 An osteochondrodysplasia that results in dwarfism which has material basis in abnormal ossification of cartilage in located in long bone.

UniProtKB/Swiss-Prot:67 Achondroplasia: A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands.

Genetics Home Reference:23 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.

OMIM:49 Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by... (100800) more...

Wikipedia:68 Achondroplasia is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 80% of... more...

GeneReviews summary for NBK1152

Related Diseases for Achondroplasia

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

(show top 50)    (show all 425)
idRelated DiseaseScoreTop Affiliating Genes
1saddan33.9FGFR3, SPRY2
2cataract30.2ACAN, COMP
3hypochondroplasia28.1ACAN, BMP8B, COMP, FGF3, FGFR2, FGFR3
4achondroplasia and severe combined immunodeficiency12.6
5achondroplasia and swiss type agammaglobulinemia12.4
6chondrodysplasia punctata, rhizomelic, type 111.5
7x-linked chondrodysplasia punctata11.3
8chondrodysplasia punctata 2, x-linked11.3
9dwarfism10.5
10epiphyseal chondrodysplasia, miura type10.3FGFR3, NPPC
11hydrocephalus, nonsyndromic, autosomal recessive10.3
12pseudoachondroplasia10.3
13myopathy with extrapyramidal signs10.3ACAN, FGFR3
14plagiocephaly and x-linked mental retardation10.3FGFR2, FGFR3
15flna-related periventricular nodular heterotopia10.3FGFR2, FGFR3
16bladder cancer, somatic10.3FGFR2, FGFR3
17hepatitis10.3
18leukemia10.3
19hypogonadotropic hypogonadism 2 with or without anosmia10.3FGFR2, FGFR3
20cyclotropia10.3FGFR2, FGFR3
21apert syndrome10.2FGFR2, FGFR3
22poland syndrome10.2FGFR2, FGFR3
23diverticulitis of colon10.2FGFR2, FGFR3
24opiate dependence10.2ACAN, COMP
25melanoma10.2
26familial atrial fibrillation10.2COMP, FGFR3
27antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.2FGFR2, FGFR3
28smed strudwick type10.2ACAN, COMP
29prostatitis10.2
30albright's hereditary osteodystrophy10.2FGFR3, NPPC, SHOX
31stickler syndrome10.1ACAN, COMP
32prostate cancer10.1
33hepatocellular carcinoma10.1
34hepatitis b10.1
35dementia10.1
36adenoma10.1
37lupus erythematosus10.1
38psoriasis10.1
39aneurysm10.1
40endotheliitis10.1
41vulvar melanoma10.1ACAN, COMP
42crohn's disease10.1
43ovarian cancer10.1
44cervicitis10.1
45cerebritis10.1
46neuronitis10.1
47neuropathy10.1
48beare-stevenson cutis gyrata syndrome10.1FGFR2, FGFR3
49tenosynovial giant cell tumor10.0FGFR2, FGFR3
50myocardial infarction10.0

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to achondroplasia

Symptoms for Achondroplasia

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Symptoms by clinical synopsis from OMIM:

100800

Clinical features from OMIM:

100800

Symptoms:

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

HPO human phenotypes related to Achondroplasia:

(show all 57)
id Description Frequency HPO Source Accession
1 limb undergrowth hallmark (90%) HP:0009826
2 depressed nasal bridge hallmark (90%) HP:0005280
3 hyperlordosis hallmark (90%) HP:0003307
4 genu varum hallmark (90%) HP:0002970
5 skeletal dysplasia hallmark (90%) HP:0002652
6 frontal bossing hallmark (90%) HP:0002007
7 brachydactyly syndrome hallmark (90%) HP:0001156
8 abnormality of the metaphyses hallmark (90%) HP:0000944
9 abnormality of the ribs hallmark (90%) HP:0000772
10 anteverted nares hallmark (90%) HP:0000463
11 macrocephaly hallmark (90%) HP:0000256
12 long thorax typical (50%) HP:0100818
13 abnormal form of the vertebral bodies typical (50%) HP:0003312
14 kyphosis typical (50%) HP:0002808
15 ventriculomegaly typical (50%) HP:0002119
16 apnea typical (50%) HP:0002104
17 obesity typical (50%) HP:0001513
18 intrauterine growth retardation typical (50%) HP:0001511
19 joint hypermobility typical (50%) HP:0001382
20 muscular hypotonia typical (50%) HP:0001252
21 hyperhidrosis typical (50%) HP:0000975
22 narrow chest typical (50%) HP:0000774
23 conductive hearing impairment typical (50%) HP:0000405
24 malar flattening typical (50%) HP:0000272
25 abnormality of the teeth typical (50%) HP:0000164
26 spinal canal stenosis occasional (7.5%) HP:0003416
27 elbow dislocation occasional (7.5%) HP:0003042
28 neurological speech impairment occasional (7.5%) HP:0002167
29 sudden cardiac death occasional (7.5%) HP:0001645
30 acanthosis nigricans occasional (7.5%) HP:0000956
31 hydrocephalus occasional (7.5%) HP:0000238
32 short femoral neck HP:0100864
33 midface retrusion HP:0011800
34 infantile muscular hypotonia HP:0008947
35 neonatal short-limb short stature HP:0008921
36 rhizomelia HP:0008905
37 lumbar kyphosis in infancy HP:0008414
38 spinal stenosis with reduced interpedicular distance HP:0005733
39 depressed nasal bridge HP:0005280
40 trident hand HP:0004060
41 limited hip extension HP:0003093
42 flared metaphysis HP:0003015
43 genu varum HP:0002970
44 lumbar hyperlordosis HP:0002938
45 upper airway obstruction HP:0002781
46 generalized joint laxity HP:0002761
47 small foramen magnum HP:0002677
48 brain stem compression HP:0002512
49 frontal bossing HP:0002007
50 limited elbow extension HP:0001377
51 megalencephaly HP:0001355
52 motor delay HP:0001270
53 brachydactyly syndrome HP:0001156
54 conductive hearing impairment HP:0000405
55 recurrent otitis media HP:0000403
56 malar flattening HP:0000272
57 hydrocephalus HP:0000238

Drugs & Therapeutics for Achondroplasia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Natriuretic Peptide, C-TypePhase 25
2Natriuretic AgentsPhase 21403

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With AchondroplasiaEnrolling by invitationNCT02055157Phase 2
2A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH)Enrolling by invitationNCT02724228Phase 2
3A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult VolunteersCompletedNCT01590446Phase 1
4C-Type Natriuretic Peptide and AchondroplasiaCompletedNCT01541306
5Issues Surrounding Prenatal Genetic Testing for AchondroplasiaCompletedNCT00001536
6A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With SomatropinCompletedNCT01435629
7Special Survey for Long Term ApplicationCompletedNCT01516229
8Simultaneous Lengthening of Bilateral Femora and Tibiae in Achondroplastic PatientsCompletedNCT01328418
9Study of Skeletal Disorders and Short StatureCompletedNCT00001754
10A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With AchondroplasiaRecruitingNCT01603095
11Achondroplasia Natural History Multicenter Clinical StudyEnrolling by invitationNCT02597881

Search NIH Clinical Center for Achondroplasia


Cochrane evidence based reviews: achondroplasia

Genetic Tests for Achondroplasia

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Genetic tests related to Achondroplasia:

id Genetic test Affiliating Genes
1 Achondroplasia22 FGFR3

Anatomical Context for Achondroplasia

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MalaCards organs/tissues related to Achondroplasia:

33
Bone, Breast, Brain, T cells, Kidney, Endothelial, Liver

FMA organs/tissues related to Achondroplasia:

16
Long bone

Animal Models for Achondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Achondroplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5FGFR2, FGFR3, MAP2K1, SOX9, SPRY2
2MP:00053828.1FGFR2, FGFR3, MAP2K1, NPPC, SOX9, SPRY2
3MP:00028737.8COMP, FGF3, FGFR2, FGFR3, MAP2K1, SOX9
4MP:00053897.8FGF3, FGFR2, FGFR3, MAP2K1, NPPC, SOX9
5MP:00036317.7FGF3, FGFR2, FGFR3, MAP2K1, NPPC, SOX9
6MP:00053777.5FGF3, FGFR2, FGFR3, MAP2K1, SOX9, SPRY2
7MP:00053717.4COMP, FGF3, FGFR2, FGFR3, NPPC, SOX9
8MP:00053907.2COMP, FGF3, FGFR2, FGFR3, MAP2K1, NPPC
9MP:00053786.6COMP, FGF3, FGFR2, FGFR3, MAP2K1, NPPC

Publications for Achondroplasia

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Articles related to Achondroplasia:

(show top 50)    (show all 559)
idTitleAuthorsYear
1
Factor XIII-A subunit Val34Leu polymorphism and risk of venous thromboembolism in young adults]. (26035561)
2015
2
O-linked I^-N-acetylglucosamine transferase directs cell proliferation in idiopathic pulmonary arterial hypertension. (25663381)
2015
3
Effects of music on cardiovascular responses in men with essential hypertension compared with healthy men based on introversion and extraversion. (25320667)
2014
4
In vivo alterations in drug metabolism and transport pathways in patients with chronic kidney diseases. (24038489)
2014
5
Implications of BCR-ABL1 kinase domain-mediated resistance in chronic myeloid leukemia. (24131888)
2014
6
Middle lobe syndrome in children today. (24630779)
2014
7
Personality dysfunction and social functioning in schizophrenia. (24343937)
2013
8
Reliability of SFEMG in diagnosing myasthenia gravis: Sensitivity and specificity calculated on 100 prospective cases. (24296278)
2013
9
Genetic polymorphisms of genes coding to alcohol-metabolizing enzymes in western Mexicans: association of CYP2E1*c2/CYP2E1*5B allele with cirrhosis and liver function. (21895718)
2012
10
NEMO differentially regulates TCR and TNF-I+ induced NF-I_B pathways and has an inhibitory role in TCR-induced NF-I_B activation. (22513115)
2012
11
Differences between soft-disc herniation and spondylosis in cervical arthroplasty: CT-documented heterotopic ossification with minimum 2 years of follow-up. (22136390)
2012
12
Computed tomography analysis of the association between the SH2B1 rs7498665 single-nucleotide polymorphism and visceral fat area. (21796141)
2011
13
Angiotensin-converting enzyme gene polymorphism is associated with type 2 diabetes: a meta-analysis. (19655271)
2010
14
Stenotrophomonas maltophilia endocarditis of prosthetic mitral valve. (20720357)
2010
15
Upregulation of myosin Va by Snail is involved in cancer cell migration and metastasis. (19521958)
2010
16
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. (20804844)
2010
17
Subcutaneous fat necrosis of the newborn associated with ventricular septal defect and patent ductus arteriosus. (19702998)
2009
18
Cholesteryl ester transfer protein (CETP) increases postprandial triglyceridaemia and delays triacylglycerol plasma clearance in transgenic mice. (19191759)
2009
19
Resolution of IgM nephropathy after rituximab treatment. (19084309)
2009
20
Food-dependent exercise-induced anaphylaxis - a review of 5 cases. (19890584)
2009
21
Immunological evaluation for CML and its possibility for an immunotherapy]. (19721343)
2009
22
Mechanical stress upregulates intercellular adhesion molecule-1 in pulmonary epithelial cells. (18523380)
2008
23
House dust mite allergen activates human eosinophils via formyl peptide receptor and formyl peptide receptor-like 1. (17559171)
2007
24
Malignant mesothelioma: global incidence and relationship with asbestos. (17634686)
2007
25
Nucleoside reverse transcriptase inhibitors prevent HIV protease inhibitor-induced atherosclerosis by ubiquitination and degradation of protein kinase C. (16822947)
2006
26
Sporadic Burkitt's lymphoma of the jaws: the essentials of prompt life-saving referral and management. (15763034)
2005
27
Modulation of costimulatory molecules CD80/CD86 on B cells and macrophages by stress proteins GroEL, GroES and DnaK. (16388710)
2005
28
Intestinal obstruction due to rectal endometriosis. (16358167)
2005
29
CD209L (L-SIGN) is a receptor for severe acute respiratory syndrome coronavirus. (15496474)
2004
30
An endostatin-derived peptide interacts with integrins and regulates actin cytoskeleton and migration of endothelial cells. (14973128)
2004
31
Combinatorial attack on multistep oncogenesis by inhibiting the Hsp90 molecular chaperone. (15013520)
2004
32
Monitoring proteinase 3 antineutrophil cytoplasmic antibodies for detection of relapses in small vessel vasculitis. (12965902)
2003
33
Raised serum levels of interleukin-18 is associated with disease progression and may contribute to virological treatment failure in HIV-1-infected patients. (12780693)
2003
34
CTLA4 is associated with susceptibility to multiple sclerosis. (12507781)
2003
35
The C677T mutation in the methylenetetrahydrofolate reductase gene: a genetic risk factor for methotrexate-related elevation of liver enzymes in rheumatoid arthritis patients. (11710708)
2001
36
Blastomycosis is a serious disease, but let's not raise fears without conclusive data. (11816783)
2001
37
Simultanagnosia in a patient with right brain lesions. (11041337)
2000
38
Cloning and characterization of the 5'-flanking region of the human growth hormone-releasing hormone receptor gene. (10207037)
1999
39
Genomic typing of the Kidd blood group locus by a single-tube allele- specific primer PCR technique. (9734652)
1998
40
The intermediate layer: a morphologic study of the elastin and hyaluronic acid constituents of normal human vocal folds. (9075177)
1997
41
A small region in phosducin inhibits G-protein betagamma-subunit function. (9305633)
1997
42
Gingival fluid IL-1 beta and IL-6 levels in menopause. (8126239)
1994
43
The intramuscular administration of granulocyte colony-stimulating factor as an adjunct to chemotherapy in pretreated ovarian cancer patients: an Italian Trials in Medical Oncology (ITMO) Group pilot study. (7514030)
1994
44
Idiopathic proliferative vitreoretinopathy. Activation of microglial cells as the deciding factor]. (1304218)
1992
45
Renal ultrasound in POEMS syndrome. (3920286)
1985
46
A comparative analysis of the clinical, sialographic, and pathologic findings in parotid disease. (4062061)
1985
47
Chlorpromazine inhibits neutrophil chemotaxis beyond the chemotactic receptor-ligand interaction. (6092486)
1984
48
What is new about duodenitis? (295500)
1979
49
A Scheme to aid in recording and examining Cases of Asthenopia. (16691718)
1871
50

Variations for Achondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

67
id Symbol AA change Variation ID SNP ID
1FGFR3p.Gly375CysVAR_004154
2FGFR3p.Gly380ArgVAR_004155rs28931614
3FGFR3p.Lys650MetVAR_004161

Clinvar genetic disease variations for Achondroplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
2FGFR3NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
3FGFR3NM_000142.4(FGFR3): c.1123G> T (p.Gly375Cys)single nucleotide variantPathogenicrs75790268GRCh37Chr 4, 1806104: 1806104
4FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
5FGFR3NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys)single nucleotide variantPathogenicrs121913114GRCh37Chr 4, 1803657: 1803657

Expression for genes affiliated with Achondroplasia

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Search GEO for disease gene expression data for Achondroplasia.

Pathways for genes affiliated with Achondroplasia

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Pathways related to Achondroplasia according to GeneCards Suite gene sharing:

(show all 19)
idSuper pathwaysScoreTop Affiliating Genes
19.8FGFR3, MAP2K1
29.5FGFR2, FGFR3, MAP2K1
3
Show member pathways
9.5FGFR2, FGFR3, MAP2K1
4
Show member pathways
9.5FGFR2, FGFR3, MAP2K1
59.5FGFR2, FGFR3, MAP2K1
69.3ACAN, COMP
7
Show member pathways
9.3FGF3, FGFR2, FGFR3
8
Show member pathways
9.3FGF3, FGFR2, FGFR3
99.2ACAN, FGFR3, SOX9
109.2FGFR2, FGFR3, SOX9
11
Show member pathways
9.0FGF3, FGFR2, FGFR3, MAP2K1
12
Show member pathways
9.0FGF3, FGFR2, FGFR3, MAP2K1
13
Show member pathways
9.0FGF3, FGFR2, FGFR3, MAP2K1
149.0FGF3, FGFR2, FGFR3, MAP2K1
159.0FGF3, FGFR2, FGFR3, MAP2K1
169.0FGF3, FGFR2, FGFR3, MAP2K1
17
Show member pathways
8.8FGF3, FGFR2, FGFR3, SPRY2
18
Show member pathways
8.7FGF3, FGFR2, MAP2K1, SPRY2
198.1COMP, FGF3, FGFR2, FGFR3, MAP2K1

GO Terms for genes affiliated with Achondroplasia

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

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:001051810.5FGFR2, FGFR3
2regulation of multicellular organism growthGO:004001410.2FGFR2, NPPC
3lacrimal gland developmentGO:003280810.2FGFR2, SOX9
4bone morphogenesisGO:006034910.2FGFR2, FGFR3
5bone mineralizationGO:003028210.2FGFR2, FGFR3
6prostate gland morphogenesisGO:006051210.2FGFR2, SOX9
7positive regulation of cell divisionGO:005178110.1FGF3, FGFR2
8limb bud formationGO:006017410.0FGFR2, SOX9
9otic vesicle formationGO:003091610.0FGFR2, SOX9
10positive regulation of mesenchymal cell proliferationGO:000205310.0FGFR2, SOX9
11epithelial to mesenchymal transitionGO:000183710.0FGFR2, SOX9
12positive regulation of protein serine/threonine kinase activityGO:00719029.9MAP2K1, SPRY2
13ERK1 and ERK2 cascadeGO:00703719.9MAP2K1, SOX9
14regulation of cell differentiationGO:00455959.9SOX9, SPRY2
15Ras protein signal transductionGO:00072659.9FGFR2, FGFR3, MAP2K1
16regulation of phosphatidylinositol 3-kinase signalingGO:00140669.9FGF3, FGFR2, FGFR3
17phosphatidylinositol-mediated signalingGO:00480159.9FGF3, FGFR2, FGFR3
18phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.8FGF3, FGFR2, FGFR3
19post-embryonic developmentGO:00097919.8FGFR2, NPPC
20MAPK cascadeGO:00001659.7FGF3, FGFR2, FGFR3
21negative regulation of epithelial cell proliferationGO:00506809.7FGFR2, SOX9
22activation of MAPKK activityGO:00001869.6FGF3, FGFR2, MAP2K1
23ossificationGO:00015039.5BMP8B, NPPC, SOX9
24cell fate commitmentGO:00451659.5FGFR2, SOX9, SPRY2
25negative regulation of cell proliferationGO:00082859.4NPPC, SOX9, SPRY2
26vascular endothelial growth factor receptor signaling pathwayGO:00480109.3FGF3, FGFR2, FGFR3, MAP2K1
27insulin receptor signaling pathwayGO:00082869.3FGF3, FGFR2, FGFR3, MAP2K1
28positive regulation of cell proliferationGO:00082849.2FGF3, FGFR3, SOX9
29innate immune responseGO:00450879.0FGF3, FGFR2, FGFR3, MAP2K1
30epidermal growth factor receptor signaling pathwayGO:00071738.9FGF3, FGFR2, FGFR3, MAP2K1, SPRY2
31positive regulation of gene expressionGO:00106288.9MAP2K1, SOX9, SPRY2
32fibroblast growth factor receptor signaling pathwayGO:00085438.9FGF3, FGFR2, FGFR3, MAP2K1, SPRY2
33neurotrophin TRK receptor signaling pathwayGO:00480118.7FGF3, FGFR2, FGFR3, MAP2K1

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:000500710.3FGFR2, FGFR3
2protein tyrosine kinase activityGO:00047139.0FGF3, FGFR2, FGFR3, MAP2K1

Sources for Achondroplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet