MCID: ACH004
MIFTS: 65

Achondroplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

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, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Achondroplasia:

Name: Achondroplasia 49 10 11 68 21 45 22 23 47 12 51 24 65 36 67
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


Classifications:



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


External Ids:

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

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: 8/4/2011

MalaCards based summary: Achondroplasia, also known as ach, is related to hypochondroplasia and crouzon syndrome, 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 Bladder cancer and Articular Cartilage Extracellular Matrix. Affiliated tissues include long bone, bone and brain, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

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

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...

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.

Wikipedia:68 Achondroplasia /eɪˌkɒndrɵˈpleɪziə/ is a common cause of dwarfism. It occurs as a sporadic... more...

GeneReviews summary for achondroplasia

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 138)
idRelated DiseaseScoreTop Affiliating Genes
1hypochondroplasia30.3FGF3, FGFR1, FGFR2, FGFR3, NPPC, SHOX
2crouzon syndrome29.9FGFR1, FGFR2, FGFR3
3pfeiffer syndrome29.6FGFR1, FGFR2, FGFR3
4thanatophoric dysplasia, type i29.0COMP, FGFR1, FGFR2, FGFR3, PTH1R
5dwarfism10.6
6saddan10.6
7skeletal dysplasias10.5
8skeletal dysplasia10.5
9cervicitis10.4
10sleep apnea10.4
11spinal stenosis10.4
12obstructive sleep apnea10.4
13hydrocephalus10.4
14acanthosis nigricans10.4
15achondroplasia and severe combined immunodeficiency10.4
16mucopolysaccharidosis iva10.3
17mucopolysaccharidosis iv10.3
18secondary syphilis10.3
19bone development disease10.3
20osteochondrodysplasia10.3
21sleep disorder10.3
22down syndrome10.3
23pulmonary hypertension10.2
24craniosynostosis10.2
25achondroplasia and swiss type agammaglobulinemia10.2
26acromesomelic dysplasia, maroteaux type10.2FGFR3, NPPC
27porphyria10.2
28langer mesomelic dysplasia10.2FGFR3, SHOX
29pseudoachondroplasia10.2
30neurofibromatosis10.2
31synostosis10.2
32osteopetrosis10.2
33distal arthrogryposis10.1COMP, FGFR3
34cataract10.1ACAN, COMP
35achondrogenesis, type ii or hypochondrogenesis10.1ACAN, COMP
36spondyloepiphyseal dysplasia with congenital joint dislocations10.1ACAN, FGFR3
37acute cervicitis10.1FGFR3, NPPC, SHOX
38synovial chondromatosis, familial with dwarfism10.1FGFR1, FGFR3
39transient cerebral ischemia10.1ACAN, COMP
40chondrodysplasia punctata, rhizomelic, type 110.1
41x-linked chondrodysplasia punctata10.1
42chondrodysplasia punctata 2, x-linked10.1
43epidermolysis bullosa, pretibial10.1FGFR3, PTH1R
44hyperandrogenism10.1ACAN, COMP
45crouzon syndrome with acanthosis nigricans10.1
46pelvic lipomatosis10.1
47osteogenesis imperfecta10.1
48achondrogenesis10.1
49lipomatosis10.1
50megalencephaly10.1

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 58)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 anteverted nares hallmark (90%) HP:0000463
3 abnormality of the ribs hallmark (90%) HP:0000772
4 abnormality of the metaphyses hallmark (90%) HP:0000944
5 brachydactyly syndrome hallmark (90%) HP:0001156
6 frontal bossing hallmark (90%) HP:0002007
7 skeletal dysplasia hallmark (90%) HP:0002652
8 genu varum hallmark (90%) HP:0002970
9 hyperlordosis hallmark (90%) HP:0003307
10 depressed nasal bridge hallmark (90%) HP:0005280
11 limb undergrowth hallmark (90%) HP:0009826
12 abnormality of the teeth typical (50%) HP:0000164
13 malar flattening typical (50%) HP:0000272
14 conductive hearing impairment typical (50%) HP:0000405
15 narrow chest typical (50%) HP:0000774
16 hyperhidrosis typical (50%) HP:0000975
17 muscular hypotonia typical (50%) HP:0001252
18 joint hypermobility typical (50%) HP:0001382
19 intrauterine growth retardation typical (50%) HP:0001511
20 obesity typical (50%) HP:0001513
21 apnea typical (50%) HP:0002104
22 ventriculomegaly typical (50%) HP:0002119
23 kyphosis typical (50%) HP:0002808
24 abnormal form of the vertebral bodies typical (50%) HP:0003312
25 long thorax typical (50%) HP:0100818
26 hydrocephalus occasional (7.5%) HP:0000238
27 acanthosis nigricans occasional (7.5%) HP:0000956
28 sudden cardiac death occasional (7.5%) HP:0001645
29 neurological speech impairment occasional (7.5%) HP:0002167
30 elbow dislocation occasional (7.5%) HP:0003042
31 spinal canal stenosis occasional (7.5%) HP:0003416
32 autosomal dominant inheritance HP:0000006
33 hydrocephalus HP:0000238
34 malar flattening HP:0000272
35 recurrent otitis media HP:0000403
36 conductive hearing impairment HP:0000405
37 brachydactyly syndrome HP:0001156
38 motor delay HP:0001270
39 megalencephaly HP:0001355
40 limited elbow extension HP:0001377
41 frontal bossing HP:0002007
42 brain stem compression HP:0002512
43 small foramen magnum HP:0002677
44 generalized joint laxity HP:0002761
45 upper airway obstruction HP:0002781
46 lumbar hyperlordosis HP:0002938
47 genu varum HP:0002970
48 flared metaphysis HP:0003015
49 limited hip extension HP:0003093
50 trident hand HP:0004060
51 depressed nasal bridge HP:0005280
52 spinal stenosis with reduced interpedicular distance HP:0005733
53 lumbar kyphosis in infancy HP:0008414
54 rhizomelia HP:0008905
55 neonatal short-limb short stature HP:0008921
56 infantile muscular hypotonia HP:0008947
57 hypoplasia of midface HP:0011800
58 short femoral neck HP:0100864

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 24

Interventional clinical trials:

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 Safety and Tolerability of BMN 111 Administered to Healthy Adult VolunteersCompletedNCT01590446Phase 1
3C-Type Natriuretic Peptide and AchondroplasiaCompletedNCT01541306
4Issues Surrounding Prenatal Genetic Testing for AchondroplasiaCompletedNCT00001536
5A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With SomatropinCompletedNCT01435629
6Special Survey for Long Term ApplicationCompletedNCT01516229
7Simultaneous Lengthening of Bilateral Femora and Tibiae in Achondroplastic PatientsCompletedNCT01328418
8Study of Skeletal Disorders and Short StatureCompletedNCT00001754
9A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With AchondroplasiaEnrolling by invitationNCT01603095
10Achondroplasia Natural History Multicenter Clinical StudyNot yet recruitingNCT02597881

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 24 FGFR3

Anatomical Context for Achondroplasia

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MalaCards organs/tissues related to Achondroplasia:

33
Bone, Brain, Lung, Bone marrow, Spinal cord, Occipital lobe, Pituitary

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 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.4ACAN, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
2MP:00053818.3ACAN, FGFR1, FGFR2, FGFR3, MAP2K1, PTH1R
3MP:00053828.0ACAN, FGFR1, FGFR2, FGFR3, MAP2K1, NPPC
4MP:00053897.9BMP8B, FGF3, FGFR2, FGFR3, MAP2K1, NPPC
5MP:00028737.8ACAN, COMP, FGF3, FGFR1, FGFR2, FGFR3
6MP:00053807.7BMP8B, FGF3, FGFR1, FGFR2, MAP2K1, PTH1R
7MP:00053717.6ACAN, COMP, FGF3, FGFR1, FGFR2, FGFR3
8MP:00036317.4ACAN, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
9MP:00053907.2ACAN, COMP, FGF3, FGFR1, FGFR2, FGFR3
10MP:00107686.6ACAN, BMP8B, FGF3, FGFR1, FGFR2, FGFR3
11MP:00053786.0ACAN, BMP8B, COMP, FGF3, FGFR1, FGFR2

Publications for Achondroplasia

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Articles related to Achondroplasia:

(show top 50)    (show all 556)
idTitleAuthorsYear
1
Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report. (26136890)
2015
2
Acute paraparesis as consequence of lumbar bending in achondroplasia. (23842926)
2014
3
FGFR3 mutation causes abnormal membranous ossification in achondroplasia. (24419316)
2014
4
Low bone density in achondroplasia. (24664201)
2014
5
Respiratory difficulties and breathing disorders in achondroplasia. (23523391)
2013
6
Bilateral ossiculoplasty in 1 case of achondroplasia. (24653923)
2013
7
Achondroplasia associated with bilateral keratoconus. (23259098)
2012
8
De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report. (22935513)
2012
9
Growth references for height, weight, and head circumference for Argentine children with achondroplasia. (20938683)
2011
10
Functional performance in young Australian children with achondroplasia. (21838822)
2011
11
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. (21225355)
2011
12
Callus features of regenerate fracture cases in femoral lengthening in achondroplasia. (19572129)
2010
13
Achondroplasia. (18328977)
2008
14
Ischemic brain damage induced after adenotonsillectomy in achondroplasia. (18439482)
2008
15
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. (17154237)
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
Multiplier method for prediction of adult height in patients with achondroplasia. (15958911)
2005
19
An unusual presentation of achondroplasia. Case report. (16370285)
2005
20
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
21
Management of disabilities associated with achondroplasia. (14767713)
2004
22
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. (15517832)
2004
23
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. (12816345)
2003
24
Living with achondroplasia in an average-sized world: an assessment of quality of life. (12884421)
2003
25
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. (12921294)
2003
26
Three-dimensional sonographic aspects in the antenatal diagnosis of achondroplasia. (11489233)
2001
27
Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. (10932008)
2000
28
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia. (11059551)
2000
29
Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations. (9949360)
1999
30
Japanese sisters with Pfeiffer syndrome and achondroplasia: a mutation analysis. (9780920)
1998
31
Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans. (9124710)
1997
32
Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets. (9115628)
1996
33
Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. (8923856)
1996
34
Achondroplasia is defined by recurrent G380R mutations of FGFR3. (7847369)
1995
35
Cervicomedullary compression in achondroplasia. (8207526)
1994
36
Cognitive skills in achondroplasia. (8267016)
1993
37
Achondroplasia: unusual bone abnormalities of the cervical spine. (1635629)
1992
38
Growth hormone therapy in achondroplasia. (1632435)
1992
39
Foramen magnum decompression in an infant with homozygous achondroplasia. Case report. (2909672)
1989
40
Achondroplasia in sibs of normal parents. (3236371)
1988
41
Kyphosis and lumbar stenosis in achondroplasia. (3240265)
1988
42
The unreliability of metacarpo-phalangeal profile (MPP) in the diagnosis of achondroplasia. (3240251)
1988
43
Birth prevalence and mutation rate of achondroplasia in the Italian Multicentre Monitoring System for Birth Defects. (3071354)
1988
44
Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. (3559799)
1987
45
Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction. (3602395)
1987
46
Nonrandom association of a type II procollagen genotype with achondroplasia. (2991928)
1985
47
Achondroplasia and obstructive sleep apnea: correction of apnea and abnormal sleep-entrained growth hormone release by tracheostomy. (4041579)
1985
48
Long-term neurological sequelae in achondroplasia. (6510432)
1984
49
Achondroplasia associated with obstructive sleep apnea. (6625996)
1983
50
Probable case of achondroplasia-hypochondroplasia compound. (4461068)
1974

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 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8FGFR3, MAP2K1
29.6ACAN, COMP
39.4FGFR1, MAP2K1
4
Show member pathways
9.4FGF3, FGFR2, FGFR3
5
Angiogenesis (CST)
Show member pathways
9.1FGF3, FGFR2, FGFR3
69.1FGFR1, FGFR2, FGFR3
79.1FGFR1, FGFR2, FGFR3
89.1FGFR1, FGFR2, FGFR3
99.1FGFR1, FGFR2, FGFR3
108.9ACAN, FGFR1, FGFR3, PTH1R
11
Show member pathways
8.8FGF3, FGFR1, FGFR2, FGFR3
12
Show member pathways
8.8FGF3, FGFR1, FGFR2, FGFR3
13
Show member pathways
8.8FGF3, FGFR1, FGFR2, FGFR3
14
Show member pathways
8.8FGF3, FGFR1, FGFR2, FGFR3
15
Show member pathways
8.8FGF3, FGFR1, FGFR2, FGFR3
16
Show member pathways
8.7FGFR1, FGFR2, FGFR3, MAP2K1
17
Show member pathways
8.7FGFR1, FGFR2, FGFR3, MAP2K1
188.7FGFR1, FGFR2, FGFR3, MAP2K1
19
Show member pathways
8.7FGFR1, FGFR2, FGFR3, MAP2K1
208.7FGFR1, FGFR2, FGFR3, MAP2K1
21
Show member pathways
8.7FGF3, FGFR1, FGFR2, MAP2K1
22
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
238.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
24
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
258.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
26
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
278.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
28
Show member pathways
8.3ACAN, FGFR1, FGFR2, FGFR3, MAP2K1
29
Show member pathways
8.0ACAN, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
307.9COMP, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
31
Show member pathways
7.6BMP8B, 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 matrixGO:00310128.8ACAN, COMP, FGFR2
2extracellular regionGO:00055767.6ACAN, COMP, FGF3, FGFR1, FGFR2, FGFR3

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

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1response to axon injuryGO:004867810.4FGFR3, MAP2K1
2lens fiber cell developmentGO:007030710.4FGFR2, FGFR3
3negative regulation of mitotic nuclear divisionGO:004583910.4FGFR2, FGFR3
4positive regulation of cell divisionGO:005178110.4FGF3, FGFR2
5positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.3FGFR1, FGFR3
6otic vesicle formationGO:003091610.3FGF3, FGFR2
7bone morphogenesisGO:006034910.2FGFR2, FGFR3
8organ inductionGO:000175910.2FGF3, FGFR1
9regulation of multicellular organism growthGO:004001410.2FGFR2, NPPC
10orbitofrontal cortex developmentGO:002176910.1FGFR1, FGFR2
11ventricular zone neuroblast divisionGO:002184710.1FGFR1, FGFR2
12fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.1FGFR1, FGFR2
13cell maturationGO:004846910.1FGFR1, PTH1R
14positive regulation of mesenchymal cell proliferationGO:000205310.1FGFR1, FGFR2
15positive regulation of cardiac muscle cell proliferationGO:006004510.1FGFR1, FGFR2
16midbrain developmentGO:003090110.1FGFR1, FGFR2
17lung-associated mesenchyme developmentGO:006048410.1FGFR1, FGFR2
18positive regulation of cell cycleGO:004578710.0FGFR1, FGFR2
19mesenchymal cell differentiationGO:004876210.0FGFR1, FGFR2
20branching involved in salivary gland morphogenesisGO:006044510.0FGFR1, FGFR2
21bone mineralizationGO:00302829.8FGFR2, FGFR3, PTH1R
22positive regulation of MAPK cascadeGO:00434109.7FGFR1, FGFR2, FGFR3
23positive regulation of phospholipase activityGO:00105189.7FGFR1, FGFR2, FGFR3
24protein autophosphorylationGO:00467779.6FGFR1, FGFR2, FGFR3
25chondrocyte differentiationGO:00020629.5FGFR1, FGFR3, PTH1R
26phosphatidylinositol-mediated signalingGO:00480159.3FGF3, FGFR1, FGFR2, FGFR3
27ossificationGO:00015039.3BMP8B, NPPC, PTH1R
28negative regulation of cell proliferationGO:00082859.2FGFR2, FGFR3, MAP2K1, NPPC, PTH1R
29protein phosphorylationGO:00064689.1FGFR1, FGFR2, FGFR3, MAP2K1
30peptidyl-tyrosine phosphorylationGO:00181089.1FGFR1, FGFR2, FGFR3, MAP2K1
31positive regulation of cell proliferationGO:00082848.9FGF3, FGFR1, FGFR2, FGFR3, PTH1R
32MAPK cascadeGO:00001658.8FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
33activation of MAPKK activityGO:00001868.8FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
34Ras protein signal transductionGO:00072658.7FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
35insulin receptor signaling pathwayGO:00082868.7FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
36fibroblast growth factor receptor signaling pathwayGO:00085438.7FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
37Fc-epsilon receptor signaling pathwayGO:00380958.7FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
38neurotrophin TRK receptor signaling pathwayGO:00480118.7FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
39epidermal growth factor receptor signaling pathwayGO:00071738.5FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
40axon guidanceGO:00074118.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
41small GTPase mediated signal transductionGO:00072648.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
42innate immune responseGO:00450878.3FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
43vascular endothelial growth factor receptor signaling pathwayGO:00480108.1FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
44skeletal system developmentGO:00015017.2ACAN, BMP8B, COMP, FGFR1, FGFR3, PTH1R

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.7FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.6FGFR1, FGFR2, FGFR3
3heparin bindingGO:00082019.1COMP, FGFR1, FGFR2
4protein tyrosine kinase activityGO:00047138.7FGFR1, FGFR2, FGFR3, MAP2K1
5protein kinase activityGO:00046728.4FGFR1, 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