MCID: ACH004
MIFTS: 64

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 crouzon syndrome with acanthosis nigricans, 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 brain, 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 108)
idRelated DiseaseScoreTop Affiliating Genes
1saddan33.8FGFR3, SPRY2
2crouzon syndrome with acanthosis nigricans29.6COMP, FGFR2, FGFR3
3thanatophoric dysplasia, type ii29.2FGF3, FGFR2, FGFR3
4thanatophoric dysplasia, type i28.2FGF3, FGFR2, FGFR3, NPPC, SHOX
5hypochondroplasia26.5ACAN, BMP8B, COMP, FGF3, FGFR2, FGFR3
6achondroplasia and severe combined immunodeficiency12.2
7achondroplasia and swiss type agammaglobulinemia12.0
8chondrodysplasia punctata, rhizomelic, type 111.1
9x-linked chondrodysplasia punctata10.9
10chondrodysplasia punctata 2, x-linked10.9
11dwarfism10.8
12epiphyseal chondrodysplasia, miura type10.5FGFR3, NPPC
13pseudoachondroplasia10.4
14myopathy with extrapyramidal signs10.4ACAN, FGFR3
15plagiocephaly and x-linked mental retardation10.4FGFR2, FGFR3
16flna-related periventricular nodular heterotopia10.4FGFR2, FGFR3
17bladder cancer, somatic10.4FGFR2, FGFR3
18hypogonadotropic hypogonadism 2 with or without anosmia10.4FGFR2, FGFR3
19cyclotropia10.4FGFR2, FGFR3
20apert syndrome10.4FGFR2, FGFR3
21poland syndrome10.4FGFR2, FGFR3
22diverticulitis of colon10.3FGFR2, FGFR3
23opiate dependence10.3ACAN, COMP
24cataract10.3ACAN, COMP
25familial atrial fibrillation10.3COMP, FGFR3
26antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.3FGFR2, FGFR3
27smed strudwick type10.3ACAN, COMP
28albright's hereditary osteodystrophy10.3FGFR3, NPPC, SHOX
29stickler syndrome10.2ACAN, COMP
30vulvar melanoma10.2ACAN, COMP
31beare-stevenson cutis gyrata syndrome10.1FGFR2, FGFR3
32spinal stenosis10.1
33sleep apnea10.1
34cervicitis10.1
35obstructive sleep apnea10.1
36sleep disorder10.1
37hydrocephalus10.1
38acanthosis nigricans10.1
39tenosynovial giant cell tumor10.1FGFR2, FGFR3
40skeletal dysplasias10.0
41skeletal dysplasia10.0
42gingival fibromatosis10.0ACAN, SOX9
43down syndrome10.0
44pulmonary hypertension9.9
45craniosynostosis9.9
46hydrocephalus, nonsyndromic, autosomal recessive9.9
47osteopetrosis9.9
48synostosis9.9
49neurofibromatosis9.9
50ischemic bone disease9.9ACAN, SOX9

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, Brain, Breast, Liver, T cells, Prostate, Thyroid

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 577)
idTitleAuthorsYear
1
Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia. (26770560)
2015
2
Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report. (26136890)
2015
3
Acute paraparesis as consequence of lumbar bending in achondroplasia. (23842926)
2014
4
FGFR3 mutation causes abnormal membranous ossification in achondroplasia. (24419316)
2014
5
Low bone density in achondroplasia. (24664201)
2014
6
Respiratory difficulties and breathing disorders in achondroplasia. (23523391)
2013
7
Bilateral ossiculoplasty in 1 case of achondroplasia. (24653923)
2013
8
Achondroplasia associated with bilateral keratoconus. (23259098)
2012
9
De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report. (22935513)
2012
10
Growth references for height, weight, and head circumference for Argentine children with achondroplasia. (20938683)
2011
11
Functional performance in young Australian children with achondroplasia. (21838822)
2011
12
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. (21225355)
2011
13
Callus features of regenerate fracture cases in femoral lengthening in achondroplasia. (19572129)
2010
14
Achondroplasia. (18328977)
2008
15
Ischemic brain damage induced after adenotonsillectomy in achondroplasia. (18439482)
2008
16
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. (17154237)
2007
17
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
18
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. (16411219)
2006
19
Multiplier method for prediction of adult height in patients with achondroplasia. (15958911)
2005
20
An unusual presentation of achondroplasia. Case report. (16370285)
2005
21
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
22
Management of disabilities associated with achondroplasia. (14767713)
2004
23
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. (15517832)
2004
24
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. (12816345)
2003
25
Living with achondroplasia in an average-sized world: an assessment of quality of life. (12884421)
2003
26
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. (12921294)
2003
27
Three-dimensional sonographic aspects in the antenatal diagnosis of achondroplasia. (11489233)
2001
28
Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. (10932008)
2000
29
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia. (11059551)
2000
30
Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations. (9949360)
1999
31
Japanese sisters with Pfeiffer syndrome and achondroplasia: a mutation analysis. (9780920)
1998
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

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