MCID: ACH004
MIFTS: 66

Achondroplasia malady

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

Aliases & Classifications for Achondroplasia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Achondroplasia:

Name: Achondroplasia 51 11 70 23 47 24 25 53 69 26 12 49 38 13 67
Achondroplastic Dwarfism 47 25 67
Ach 47 25 69
Achondroplastic Physique 11
 
Osteosclerosis Congenita 11
Dwarf, Achondroplastic 25
Chondrodystrophia 11

Characteristics:

Orphanet epidemiological data:

53
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:

63
achondroplasia:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance is 100%, meaning that all individuals who have a single copy of one of the fgfr3 mutations giving rise to achondroplasia have the clinical manifestations of the disorder...


Classifications:



External Ids:

OMIM51 100800
Disease Ontology11 DOID:4480
ICD1029 Q77.4
MeSH38 D000130
NCIt44 C34345
Orphanet53 ORPHA15
UMLS via Orphanet68 C0001080
MESH via Orphanet39 D000130
ICD10 via Orphanet30 Q77.4
MedGen36 C0001080

Summaries for Achondroplasia

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Genetics Home Reference:25 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.

MalaCards based summary: Achondroplasia, also known as achondroplastic dwarfism, is related to crouzon syndrome with acanthosis nigricans and thanatophoric dysplasia, type ii, and has symptoms including macrocephaly, anteverted nares and abnormality of the ribs. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Signal transduction by L1 and Tyrosine Kinases / Adaptors. Affiliated tissues include long bone, bone and brain, and related mouse phenotypes are digestive/alimentary and hearing/vestibular/ear.

Disease Ontology:11 An osteochondrodysplasia that results in dwarfism which has material basis in abnormal ossification of cartilage in located in long bone.

NIH Rare Diseases:47 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

OMIM:51 Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by... (100800) more...

UniProtKB/Swiss-Prot:69 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.

Wikipedia:70 Achondroplasia is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 80% of... more...

GeneReviews 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 120)
idRelated DiseaseScoreTop Affiliating Genes
1crouzon syndrome with acanthosis nigricans28.9COMP, FGFR2, FGFR3, PTH1R
2thanatophoric dysplasia, type ii28.8FGF3, FGFR1, FGFR2, FGFR3
3hypochondroplasia28.0ACAN, BMP8B, FGF3, FGFR1, FGFR2, FGFR3
4thanatophoric dysplasia, type i27.9FGF3, FGFR1, FGFR2, FGFR3, NPPC, SHOX
5saddan12.1
6achondroplasia and severe combined immunodeficiency11.8
7achondroplasia and swiss type agammaglobulinemia11.8
8dwarfism11.3
9pseudoachondroplasia11.1
10short-limb skeletal dysplasia with severe combined immunodeficiency11.0
11chondrodysplasia punctata, rhizomelic, type 110.8
12chondrodysplasia punctata, x-linked dominant10.8
13x-linked chondrodysplasia punctata10.8
14hydrocephalus, nonsyndromic, autosomal recessive10.8
15mesomelia10.8
16epiphyseal chondrodysplasia, miura type10.4FGFR3, NPPC
17autism susceptibility, x-linked 210.4FGFR3, SHOX
18slc40a1-related hereditary hemochromatosis10.3ACAN, FGFR3
19neuropathy, distal hereditary motor, type iia10.3COMP, FGFR3
20osteopetrosis and infantile neuroaxonal dystrophy10.3FGFR1, FGFR3
21toenail dystrophy, isolated10.3FGFR3, PTH1R
22mite infestation10.3FGFR2, FGFR3
23atrioventricular septal defect10.2COMP, FGFR3
24cerebral hemorrhage10.2ACAN, COMP
25apert syndrome10.2FGFR2, FGFR3
26smed strudwick type10.2ACAN, COMP
27charcot-marie-tooth disease type 510.2FGFR3, NPPC, SHOX
28accommodative esotropia10.2FGFR2, FGFR3
29acromesomelic dysplasia10.2ACAN, COMP
30sweat gland cancer10.2ACAN, COMP
31retroperitoneal germ cell neoplasm10.1ACAN, PTH1R
32glaucomatocyclitic crisis10.1FGFR2, FGFR3
33pfn1-related amyotrophic lateral sclerosis10.1FGFR1, FGFR2
34uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis10.1FGFR1, FGFR2
35scleredema adultorum10.0FGFR2, FGFR3
36cervicitis10.0
37spinal stenosis10.0
38sleep apnea10.0
39sleep disorder10.0
40benign fibrous mesothelioma10.0PTH1R, SOX9
41obstructive sleep apnea10.0
42hydrocephalus9.9
43acanthosis nigricans9.9
44flnb-related disorders9.9FGFR1, FGFR2, FGFR3
45plasmalogens synthesis deficiency isolated9.9FGFR1, FGFR2, FGFR3
46trigonocephaly 19.9FGFR1, FGFR2, FGFR3
47skeletal dysplasias9.9
48skeletal dysplasia9.9
49bladder cancer, somatic9.9FGFR1, FGFR2, FGFR3
50hypogonadotropic hypogonadism 2 with or without anosmia9.9FGFR1, FGFR2, FGFR3

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

Human phenotypes related to Achondroplasia:

 63 53 (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000256
2 anteverted nares63 53 hallmark (90%) Very frequent (99-80%) HP:0000463
3 abnormality of the ribs63 53 hallmark (90%) Very frequent (99-80%) HP:0000772
4 abnormality of the metaphyses63 53 hallmark (90%) Very frequent (99-80%) HP:0000944
5 brachydactyly syndrome63 hallmark (90%) HP:0001156
6 frontal bossing63 53 hallmark (90%) Very frequent (99-80%) HP:0002007
7 skeletal dysplasia63 hallmark (90%) HP:0002652
8 genu varum63 53 hallmark (90%) Very frequent (99-80%) HP:0002970
9 hyperlordosis63 53 hallmark (90%) Very frequent (99-80%) HP:0003307
10 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
11 limb undergrowth63 hallmark (90%) HP:0009826
12 abnormality of the teeth63 typical (50%) HP:0000164
13 malar flattening63 typical (50%) HP:0000272
14 conductive hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000405
15 narrow chest63 53 typical (50%) Frequent (79-30%) HP:0000774
16 hyperhidrosis63 53 typical (50%) Frequent (79-30%) HP:0000975
17 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
18 joint hypermobility63 typical (50%) HP:0001382
19 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
20 obesity63 53 typical (50%) Frequent (79-30%) HP:0001513
21 apnea63 53 typical (50%) Frequent (79-30%) HP:0002104
22 ventriculomegaly63 53 typical (50%) Frequent (79-30%) HP:0002119
23 kyphosis63 53 typical (50%) Frequent (79-30%) HP:0002808
24 abnormal form of the vertebral bodies63 53 typical (50%) Frequent (79-30%) HP:0003312
25 long thorax63 53 typical (50%) Frequent (79-30%) HP:0100818
26 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
27 acanthosis nigricans63 53 occasional (7.5%) Occasional (29-5%) HP:0000956
28 sudden cardiac death63 53 occasional (7.5%) Occasional (29-5%) HP:0001645
29 neurological speech impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0002167
30 elbow dislocation63 53 occasional (7.5%) Occasional (29-5%) HP:0003042
31 spinal canal stenosis63 53 occasional (7.5%) Occasional (29-5%) HP:0003416
32 recurrent otitis media63 HP:0000403
33 motor delay63 HP:0001270
34 megalencephaly63 HP:0001355
35 limited elbow extension63 HP:0001377
36 brain stem compression63 HP:0002512
37 small foramen magnum63 HP:0002677
38 generalized joint laxity63 HP:0002761
39 upper airway obstruction63 HP:0002781
40 lumbar hyperlordosis63 HP:0002938
41 flared metaphysis63 HP:0003015
42 limited hip extension63 HP:0003093
43 trident hand63 HP:0004060
44 spinal stenosis with reduced interpedicular distance63 HP:0005733
45 lumbar kyphosis in infancy63 HP:0008414
46 rhizomelia63 53 Very frequent (99-80%) HP:0008905
47 neonatal short-limb short stature63 53 Very frequent (99-80%) HP:0008921
48 infantile muscular hypotonia63 HP:0008947
49 midface retrusion63 53 Frequent (79-30%) HP:0011800
50 short femoral neck63 HP:0100864
51 chronic otitis media53 Very frequent (99-80%)
52 dental crowding53 Frequent (79-30%)
53 dental malocclusion53 Frequent (79-30%)
54 dysarthria53 Occasional (29-5%)
55 joint stiffness53 Occasional (29-5%)
56 death in infancy53 Occasional (29-5%)
57 wormian bones53 Very frequent (99-80%)
58 abnormality of the ilium53 Frequent (79-30%)
59 obstructive sleep apnea53 Frequent (79-30%)
60 diaphyseal thickening53 Frequent (79-30%)
61 joint hyperflexibility53 Frequent (79-30%)
62 bowing of the long bones53 Frequent (79-30%)
63 narrow sacroiliac notch53 Frequent (79-30%)
64 disproportionate short-limb short stature53 Very frequent (99-80%)
65 abnormality of the elbow53 Frequent (79-30%)

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 21645

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 Achondroplasia26 24 FGFR3

Anatomical Context for Achondroplasia

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MalaCards organs/tissues related to Achondroplasia:

35
Bone, Brain, Testes, Lung, Spinal cord, Bone marrow, Occipital lobe

FMA organs/tissues related to Achondroplasia:

17
Long bone

Animal Models for Achondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Achondroplasia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8FGFR1, FGFR2, FGFR3, MAP2K1, PTH1R, SOX9
2MP:00053778.8FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, SOX9
3MP:00053808.8FGF3, FGFR1, FGFR2, MAP2K1, PTH1R, SOX9
4MP:00053828.5FGFR1, FGFR2, FGFR3, MAP2K1, NPPC, PTH1R
5MP:00053898.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, NPPC
6MP:00028737.9COMP, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
7MP:00053717.7COMP, FGF3, FGFR1, FGFR2, FGFR3, NPPC
8MP:00053787.4COMP, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
9MP:00053906.6COMP, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1

Publications for Achondroplasia

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Articles related to Achondroplasia:

(show top 50)    (show all 598)
idTitleAuthorsYear
1
Early impairment of somatosensory evoked potentials in very young children with achondroplasia with foramen magnum stenosis. (27633930)
2016
2
Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report. (26136890)
2015
3
Bilateral humeral lengthening in achondroplasia with unilateral external fixators: is it safe and does it improve daily life? (26530664)
2015
4
Acute paraparesis as consequence of lumbar bending in achondroplasia. (23842926)
2014
5
Low bone density in achondroplasia. (24664201)
2014
6
Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. (25249421)
2014
7
Respiratory difficulties and breathing disorders in achondroplasia. (23523391)
2013
8
Bilateral ossiculoplasty in 1 case of achondroplasia. (24653923)
2013
9
The prevalence of thoracolumbar kyphosis in achondroplasia: a systematic review. (22442656)
2012
10
Growth references for height, weight, and head circumference for Argentine children with achondroplasia. (20938683)
2011
11
Surgical management of pelvic organ prolapse in a woman with achondroplasia. (20664444)
2010
12
Achondroplasia. (18328977)
2008
13
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. (18266238)
2008
14
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. (17154237)
2007
15
Laminectomies and achondroplasia: does body mass index influence surgical outcomes? (17431909)
2007
16
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
17
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. (16411219)
2006
18
Dynamic lower extremity alignment in children with achondroplasia. (16791073)
2006
19
Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia. (16434832)
2006
20
The achondroplasia mutation does not alter the dimerization energetics of the fibroblast growth factor receptor 3 transmembrane domain. (16634636)
2006
21
An unusual presentation of achondroplasia. Case report. (16370285)
2005
22
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
23
Survey of the present status of sleep-disordered breathing in children with achondroplasia Part I. A questionnaire survey. (15763281)
2005
24
Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial. (16299871)
2005
25
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. (15517832)
2004
26
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. (12816345)
2003
27
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. (12921294)
2003
28
Anaesthetic management of a patient with achondroplasia. (12846715)
2003
29
Molecular basis for the treatment of achondroplasia. (14671399)
2003
30
Deformities of the elbow in achondroplasia. (12188484)
2002
31
Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. (10932008)
2000
32
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia. (11059551)
2000
33
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. (10696568)
2000
34
Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia. (10759489)
2000
35
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. (10200283)
1999
36
Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. (10592476)
1999
37
Genotype phenotype correlation in achondroplasia and hypochondroplasia. (9853502)
1998
38
Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets. (9115628)
1996
39
Sleep and upper airway obstruction in children with achondroplasia. (8917243)
1996
40
Achondroplasia with XXY karyotype. (8062443)
1994
41
Cognitive skills in achondroplasia. (8267016)
1993
42
Achondroplasia: unusual bone abnormalities of the cervical spine. (1635629)
1992
43
Growth hormone therapy in achondroplasia. (1632435)
1992
44
Radiographic features of the bones of the hand and wrist in achondroplasia: report of case. (1939806)
1991
45
Kyphosis and lumbar stenosis in achondroplasia. (3240265)
1988
46
The unreliability of metacarpo-phalangeal profile (MPP) in the diagnosis of achondroplasia. (3240251)
1988
47
Metacarpophalangeal relations in 21 Danish patients with achondroplasia. (3342645)
1988
48
Nonrandom association of a type II procollagen genotype with achondroplasia. (2991928)
1985
49
Achondroplasia and obstructive sleep apnea: correction of apnea and abnormal sleep-entrained growth hormone release by tracheostomy. (4041579)
1985
50
Long-term neurological sequelae in achondroplasia. (6510432)
1984

Variations for Achondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

69
id Symbol AA change Variation ID SNP ID
1FGFR3p.Gly375CysVAR_004154rs75790268
2FGFR3p.Gly380ArgVAR_004155rs28931614
3FGFR3p.Lys650MetVAR_004161rs121913105

Clinvar genetic disease variations for Achondroplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg)SNVPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
2FGFR3NM_000142.4(FGFR3): c.1123G> T (p.Gly375Cys)SNVPathogenicrs75790268GRCh37Chr 4, 1806104: 1806104
3FGFR3NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys)SNVPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
4FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)SNV, HaplotypePathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
5FGFR3NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys)SNVPathogenicrs121913114GRCh37Chr 4, 1803657: 1803657
6FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)SNV, HaplotypePathogenicrs28933068GRCh37Chr 4, 1807371: 1807371

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 28)
idSuper pathwaysScoreTop Affiliating Genes
19.6FGFR1, MAP2K1
29.3FGFR1, FGFR2, FGFR3
3
Show member pathways
9.3FGFR1, FGFR2, FGFR3
49.3FGFR1, FGFR2, FGFR3
59.1FGFR1, FGFR3, SOX9
6
Show member pathways
9.0FGF3, FGFR1, FGFR2, FGFR3
7
Show member pathways
9.0FGF3, FGFR1, FGFR2, FGFR3
8
Show member pathways
9.0FGF3, FGFR1, FGFR2, FGFR3
99.0FGF3, FGFR1, FGFR2, FGFR3
108.9FGFR1, FGFR2, FGFR3, MAP2K1
11
Show member pathways
8.9FGFR1, FGFR2, FGFR3, MAP2K1
12
Show member pathways
8.9FGFR1, FGFR2, FGFR3, MAP2K1
138.9FGFR1, FGFR2, FGFR3, MAP2K1
148.9FGFR1, FGFR2, FGFR3, MAP2K1
15
Show member pathways
8.9FGFR1, FGFR2, FGFR3, MAP2K1
16
Show member pathways
8.9FGF3, FGFR1, FGFR2, MAP2K1
178.7FGFR1, FGFR2, FGFR3, SOX9
188.6FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
19
Show member pathways
8.6FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
20
Show member pathways
8.6FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
21
Show member pathways
8.6FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
228.6FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
238.6FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
24
Show member pathways
8.6ACAN, FGFR1, FGFR2, FGFR3, MAP2K1
258.4ACAN, FGFR1, FGFR3, PTH1R, SOX9
26
Show member pathways
8.4BMP8B, FGFR1, FGFR2, FGFR3, MAP2K1
27
Show member pathways
8.1BMP8B, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
287.8COMP, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1

GO Terms for genes affiliated with Achondroplasia

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055767.5ACAN, COMP, FGF3, FGFR1, FGFR2, FGFR3

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.3FGFR1, FGFR2
2bone morphogenesisGO:006034910.2FGFR2, FGFR3
3mesenchymal cell differentiationGO:004876210.2FGFR1, FGFR2
4lacrimal gland developmentGO:003280810.2FGFR2, SOX9
5positive regulation of cardiac muscle cell proliferationGO:006004510.2FGFR1, FGFR2
6cell maturationGO:004846910.2FGFR1, PTH1R
7positive regulation of cell cycleGO:004578710.2FGFR1, FGFR2
8chondrocyte developmentGO:000206310.1ACAN, SOX9
9prostate gland morphogenesisGO:006051210.1FGFR2, SOX9
10branching involved in salivary gland morphogenesisGO:006044510.1FGFR1, FGFR2
11otic vesicle formationGO:003091610.1FGFR2, SOX9
12ventricular zone neuroblast divisionGO:002184710.0FGFR1, FGFR2
13limb bud formationGO:006017410.0FGFR2, SOX9
14bone mineralizationGO:003028210.0FGFR2, FGFR3, PTH1R
15ERK1 and ERK2 cascadeGO:007037110.0MAP2K1, SOX9
16epithelial to mesenchymal transitionGO:000183710.0FGFR2, SOX9
17midbrain developmentGO:00309019.9FGFR1, FGFR2
18positive regulation of phospholipase activityGO:00105189.8FGFR1, FGFR2, FGFR3
19lung-associated mesenchyme developmentGO:00604849.8FGFR1, FGFR2
20protein autophosphorylationGO:00467779.8FGFR1, FGFR2, FGFR3
21positive regulation of MAPK cascadeGO:00434109.7FGFR1, FGFR2, FGFR3
22phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.7FGF3, FGFR1, FGFR2, FGFR3
23phosphatidylinositol phosphorylationGO:00468549.6FGF3, FGFR1, FGFR2, FGFR3
24regulation of phosphatidylinositol 3-kinase signalingGO:00140669.6FGF3, FGFR1, FGFR2, FGFR3
25phosphatidylinositol-mediated signalingGO:00480159.6FGF3, FGFR1, FGFR2, FGFR3
26orbitofrontal cortex developmentGO:00217699.5FGFR1, FGFR2
27fibroblast growth factor receptor signaling pathwayGO:00085439.5FGF3, FGFR1, FGFR2, FGFR3
28regulation of multicellular organism growthGO:00400149.5FGFR2, NPPC
29positive regulation of mesenchymal cell proliferationGO:00020539.5FGFR1, FGFR2, SOX9
30negative regulation of gene expressionGO:00106299.4FGFR1, MAP2K1, SOX9
31positive regulation of ERK1 and ERK2 cascadeGO:00703749.3FGFR2, FGFR3, MAP2K1
32chondrocyte differentiationGO:00020629.3FGFR1, FGFR3, PTH1R, SOX9
33positive regulation of GTPase activityGO:00435479.2FGF3, FGFR1, FGFR2, FGFR3
34ossificationGO:00015039.2BMP8B, NPPC, PTH1R, SOX9
35peptidyl-tyrosine phosphorylationGO:00181089.1FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
36negative regulation of cell proliferationGO:00082858.9MAP2K1, NPPC, PTH1R, SOX9
37MAPK cascadeGO:00001658.9FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
38extracellular matrix organizationGO:00301988.8ACAN, COMP, SOX9
39positive regulation of cell proliferationGO:00082848.0FGF3, FGFR1, FGFR2, FGFR3, PTH1R, SOX9
40skeletal system developmentGO:00015017.0ACAN, BMP8B, COMP, FGFR1, FGFR3, PTH1R

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.9FGFR1, FGFR2, FGFR3
21-phosphatidylinositol-3-kinase activityGO:00163039.5FGF3, FGFR1, FGFR2, FGFR3
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.4FGF3, FGFR1, FGFR2, FGFR3
4fibroblast growth factor bindingGO:00171349.4FGFR1, FGFR2, FGFR3
5Ras guanyl-nucleotide exchange factor activityGO:00050889.0FGF3, FGFR1, FGFR2, FGFR3
6heparin bindingGO:00082018.8COMP, FGFR1, FGFR2
7protein tyrosine kinase activityGO:00047138.3FGF3, FGFR1, FGFR2, FGFR3, MAP2K1

Sources for Achondroplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
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