ACH
MCID: ACH004
MIFTS: 78

Achondroplasia (ACH) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
Download this MalaCard

Summaries for Achondroplasia

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 achondroplastic dwarfism, is related to thanatophoric dysplasia and acanthosis nigricans, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, frontal bossing/prominent forehead and depressed nasal bridge. An important gene associated with Achondroplasia is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are Signaling by FGFR3 mutants and Endochondral Ossification. The compounds thalidomide and pazopanib have been mentioned in the context of this disorder. Affiliated tissues include long bone, bone and brain, and related mouse phenotypes are tumorigenesis and craniofacial.

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

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

Wikipedia:65 Achondroplasia /e??k?ndr??ple?zi?/ is a common cause of dwarfism. It occurs as a sporadic mutation in... more...

Description from OMIM:46 100800

GeneReviews summary for achondroplasia

Aliases & Classifications for Achondroplasia

About this section
Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Achondroplasia, Aliases & Descriptions:

Name: Achondroplasia 8 9 65 19 42 20 22 21 46 10 44 48 62
Achondroplastic Dwarfism 42 21 62
Osteosclerosis Congenita 8 65 62
Chondrodystrophia 8 65 62
Chondrodystrophy 42 44 62
 
Ach 65 42 21
Chondrodystrophy Syndrome 65 62
Congenital Osteosclerosis 65 62
Dwarf, Achondroplastic 65 21
Achondroplastic Physique 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
achondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Elderly


External Ids:

Disease Ontology8 DOID:4480
NCIt39 C34345
OMIM46 100800
MeSH34 D000130
MESH via Orphanet35 D000130
ICD10 via Orphanet26 Q77.4
UMLS via Orphanet63 C0001080
ICD1025 Q77.4

Related Diseases for Achondroplasia

About this section

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

(show top 50)    (show all 126)
idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia31.2FGFR2, FGFR3
2acanthosis nigricans30.9FGFR2, FGFR3
3hypochondroplasia30.6FGFR3, FGFR1, FGF3, FGFR2
4dwarfism30.4FGFR3, FGFR2, NPPC, FGFR1
5crouzon syndrome30.1FGFR1, FGFR3, FGFR2
6synostosis30.1FGFR2, FGFR1, FGFR3
7craniosynostosis29.9FGFR1, FGFR3, FGFR4, FGFR2
8leukemia29.5FGFR1, FGFR3, FGFR4, FGFR2
9saddan10.5
10osteochondroma10.4FGFR3
11beare-stevenson cutis gyrata syndrome10.4FGFR2
12antley-bixler syndrome10.4FGFR2
13spinal stenosis10.4
14cervicitis10.4
15sleep apnea10.4
16osteoglophonic dysplasia10.4FGFR1
17otospondylomegaepiphyseal dysplasia10.4
18hydrocephalus10.4
19obstructive sleep apnea10.4
20schwartz jampel syndrome type 110.3
21achondroplasia and severe combined immunodeficiency10.3
22skeletal dysplasias10.3
23hypertension10.3
24down syndrome10.3
25ladd syndrome10.3FGFR2, FGFR3
26strabismus10.3FGFR2, FGFR3
27chondrodysplasia punctata 2, x-linked10.2
28syndactyly10.2FGFR2, FGFR3
29pulmonary hypertension10.2
30sleep disorder10.2
31acute intermittent porphyria10.2
32porphyria10.2
33infectious mononucleosis10.2FGFR1, FGFR2
34kniest dysplasia10.2
35hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.2
36short rib-polydactyly syndrome type 210.2
37spondyloepiphyseal dysplasia congenita10.2
38neurofibromatosis10.2
39pseudoachondroplasia10.2
40achondroplasia and swiss type agammaglobulinemia10.2
41short stature10.2
42grade iii astrocytoma10.2FGFR4, FGFR2
43transitional cell carcinoma10.1FGFR2, FGFR3
44osteopetrosis10.1
45osteosclerosis10.1
46bladder carcinoma10.1FGFR2, FGFR3
47cleft palate10.1FGFR2, FGFR1
48rhizomelic chondrodysplasia punctata type 110.1
49pelvic lipomatosis10.1
50achondrogenesis10.1

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to achondroplasia

Symptoms for Achondroplasia

About this section

Symptoms by clinical synopsis from OMIM:

100800

Clinical features from OMIM:

100800

Symptoms:

48 (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 62)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 otitis media hallmark (90%) HP:0000388
3 anteverted nares hallmark (90%) HP:0000463
4 abnormality of the ribs hallmark (90%) HP:0000772
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 brachydactyly syndrome hallmark (90%) HP:0001156
7 frontal bossing hallmark (90%) HP:0002007
8 skeletal dysplasia hallmark (90%) HP:0002652
9 genu varum hallmark (90%) HP:0002970
10 hyperlordosis hallmark (90%) HP:0003307
11 short stature hallmark (90%) HP:0004322
12 depressed nasal bridge hallmark (90%) HP:0005280
13 limb undergrowth hallmark (90%) HP:0009826
14 abnormality of the teeth typical (50%) HP:0000164
15 malar flattening typical (50%) HP:0000272
16 conductive hearing impairment typical (50%) HP:0000405
17 narrow chest typical (50%) HP:0000774
18 hyperhidrosis typical (50%) HP:0000975
19 muscular hypotonia typical (50%) HP:0001252
20 joint hypermobility typical (50%) HP:0001382
21 intrauterine growth retardation typical (50%) HP:0001511
22 obesity typical (50%) HP:0001513
23 apnea typical (50%) HP:0002104
24 ventriculomegaly typical (50%) HP:0002119
25 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
26 kyphosis typical (50%) HP:0002808
27 abnormal form of the vertebral bodies typical (50%) HP:0003312
28 long thorax typical (50%) HP:0100818
29 hydrocephalus occasional (7.5%) HP:0000238
30 acanthosis nigricans occasional (7.5%) HP:0000956
31 limitation of joint mobility occasional (7.5%) HP:0001376
32 sudden cardiac death occasional (7.5%) HP:0001645
33 neurological speech impairment occasional (7.5%) HP:0002167
34 elbow dislocation occasional (7.5%) HP:0003042
35 spinal canal stenosis occasional (7.5%) HP:0003416
36 autosomal dominant inheritance HP:0000006
37 hydrocephalus HP:0000238
38 malar flattening HP:0000272
39 recurrent otitis media HP:0000403
40 conductive hearing impairment HP:0000405
41 brachydactyly syndrome HP:0001156
42 motor delay HP:0001270
43 megalencephaly HP:0001355
44 limited elbow extension HP:0001377
45 frontal bossing HP:0002007
46 brain stem compression HP:0002512
47 small foramen magnum HP:0002677
48 generalized joint laxity HP:0002761
49 upper airway obstruction HP:0002781
50 lumbar hyperlordosis HP:0002938
51 genu varum HP:0002970
52 flared metaphyses HP:0003015
53 limited hip extension HP:0003093
54 trident hand HP:0004060
55 depressed nasal bridge HP:0005280
56 spinal stenosis with reduced interpedicular distance HP:0005733
57 lumbar kyphosis in infancy HP:0008414
58 rhizomelia HP:0008905
59 neonatal short-limb short stature HP:0008921
60 infantile muscular hypotonia HP:0008947
61 midface retrusion HP:0011800
62 short femoral neck HP:0100864

Drugs & Therapeutics for Achondroplasia

About this section

Drug clinical trials:

Search ClinicalTrials for Achondroplasia

Search NIH Clinical Center for Achondroplasia

Genetic Tests for Achondroplasia

About this section

Genetic tests related to Achondroplasia:

id Genetic test Affiliating Genes
1 Achondroplasia20 22 FGFR3

Anatomical Context for Achondroplasia

About this section

MalaCards organs/tissues related to Achondroplasia:

32
Bone, Brain, Lung, Bone marrow, Spinal cord, Skin, Testis, Testes, Myeloid, Occipital lobe, Pituitary

FMA organs/tissues related to Achondroplasia:

14
Long bone

Animal Models for Achondroplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Achondroplasia:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1FGFR3, FGFR4, FGFR2
2MP:00053828.5NPPC, FGFR2, FGFR1, FGFR3
3MP:00028738.5FGFR3, FGF3, FGFR2
4MP:00053778.3FGFR3, FGFR1, FGF3, FGFR2
5MP:00030128.2FGFR3, FGFR1, FGF3, FGFR2
6MP:00053897.9NPPC, FGFR2, FGFR4, FGF3, FGFR3
7MP:00053717.9FGFR3, FGFR1, FGF3, FGFR2, NPPC
8MP:00053907.8NPPC, FGFR2, FGF3, FGFR1, FGFR3
9MP:00036317.5NPPC, FGFR2, FGF3, FGFR1, FGFR3
10MP:00053787.3NPPC, FGFR2, FGFR4, FGF3, FGFR1, FGFR3
11MP:00107687.2NPPC, FGFR2, FGFR4, FGF3, FGFR1, FGFR3

Publications for Achondroplasia

About this section

Articles related to Achondroplasia:

(show top 50)    (show all 533)
idTitleAuthorsYear
1
Acute paraparesis as consequence of lumbar bending in achondroplasia. (23842926)
2014
2
FGFR3 mutation causes abnormal membranous ossification in achondroplasia. (24419316)
2014
3
Low bone density in achondroplasia. (24664201)
2014
4
Respiratory difficulties and breathing disorders in achondroplasia. (23523391)
2013
5
Bilateral ossiculoplasty in 1 case of achondroplasia. (24653923)
2013
6
Achondroplasia associated with bilateral keratoconus. (23259098)
2012
7
De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report. (22935513)
2012
8
Growth references for height, weight, and head circumference for Argentine children with achondroplasia. (20938683)
2011
9
Functional performance in young Australian children with achondroplasia. (21838822)
2011
10
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. (21225355)
2011
11
Callus features of regenerate fracture cases in femoral lengthening in achondroplasia. (19572129)
2010
12
Achondroplasia. (18328977)
2008
13
Ischemic brain damage induced after adenotonsillectomy in achondroplasia. (18439482)
2008
14
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. (17154237)
2007
15
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
16
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. (16411219)
2006
17
Multiplier method for prediction of adult height in patients with achondroplasia. (15958911)
2005
18
An unusual presentation of achondroplasia. Case report. (16370285)
2005
19
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
20
Management of disabilities associated with achondroplasia. (14767713)
2004
21
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. (15517832)
2004
22
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. (12816345)
2003
23
Living with achondroplasia in an average-sized world: an assessment of quality of life. (12884421)
2003
24
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. (12921294)
2003
25
Three-dimensional sonographic aspects in the antenatal diagnosis of achondroplasia. (11489233)
2001
26
Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. (10932008)
2000
27
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia. (11059551)
2000
28
Reoperation for spinal restenosis in achondroplasia. (10780694)
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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

64
id Symbol AA change Variation ID SNP ID
1FGFR3p.Gly375CysVAR_004154
2FGFR3p.Gly380ArgVAR_004155rs28931614
3FGFR3p.Lys650MetVAR_004161

Clinvar genetic disease variations for Achondroplasia:

6
id Gene Name 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

About this section
Expression patterns in normal tissues for genes affiliated with Achondroplasia

Search GEO for disease gene expression data for Achondroplasia.

Pathways for genes affiliated with Achondroplasia

About this section

Pathways related to Achondroplasia according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4FGFR3, FGFR1
29.4FGFR3, FGFR1
39.1FGFR2, FGFR4, FGFR3
49.0FGFR2, FGFR1, FGFR3
58.9FGFR1, FGFR4, FGFR2
68.5FGFR3, FGFR1, FGFR4, FGFR2
7
Show member pathways
8.5FGFR2, FGFR4, FGFR1, FGFR3
8
Show member pathways
8.5FGFR2, FGFR4, FGFR1, FGFR3
9
Show member pathways
8.5FGFR2, FGFR4, FGFR1, FGFR3
10
Show member pathways
8.5FGFR3, FGFR1, FGFR4, FGFR2
11
Show member pathways
8.5FGFR2, FGFR4, FGFR1, FGFR3
128.5FGFR3, FGFR1, FGFR4, FGFR2
13
Show member pathways
8.5FGFR3, FGFR1, FGFR4, FGFR2
14
Show member pathways
8.5FGFR2, FGFR4, FGFR1, FGFR3
158.5FGFR2, FGFR4, FGFR1, FGFR3
16
Show member pathways
8.5FGFR2, FGFR4, FGFR1, FGFR3
17
Show member pathways
8.5FGFR2, FGFR4, FGFR1, FGFR3
188.5FGFR2, FGFR4, FGFR1, FGFR3
19
Show member pathways
8.5FGFR3, FGFR1, FGFR4, FGFR2
20
Show member pathways
8.5FGFR3, FGFR1, FGFR4, FGFR2
21
Show member pathways
8.5FGFR2, FGFR4, FGFR1, FGFR3
22
Show member pathways
8.5FGFR2, FGFR4, FGFR1, FGFR3
23
Show member pathways
8.5FGFR2, FGFR4, FGFR1, FGFR3
24
Show member pathways
8.5FGFR3, FGFR1, FGFR4, FGFR2
25
Show member pathways
8.5FGFR2, FGFR4, FGFR1, FGFR3
268.2FGFR2, FGF3, FGFR1, FGFR3
27
Show member pathways
Signaling Pathways in Glioblastoma37
8.2FGFR3, FGFR1, FGF3, FGFR2
28
Show member pathways
7.6FGFR3, FGFR1, FGF3, FGFR4, FGFR2
297.6FGFR3, FGFR1, FGF3, FGFR4, FGFR2
30
Show member pathways
7.6FGFR3, FGFR1, FGF3, FGFR4, FGFR2
31
Show member pathways
7.6FGFR3, FGFR1, FGF3, FGFR4, FGFR2
32
Show member pathways
7.6FGFR3, FGFR1, FGF3, FGFR4, FGFR2
33
Show member pathways
7.6FGFR3, FGFR1, FGF3, FGFR4, FGFR2
34
Show member pathways
7.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3
35
Show member pathways
7.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3
36
Show member pathways
7.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3
37
Show member pathways
7.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3
38
Show member pathways
7.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3
39
Show member pathways
7.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3
407.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3
41
Show member pathways
7.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3
42
Show member pathways
7.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3
43
Show member pathways
7.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3
44
Show member pathways
7.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3
45
Show member pathways
MAPK signaling pathway37
7.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3

Compounds for genes affiliated with Achondroplasia

About this section

Compounds related to Achondroplasia according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1thalidomide44 50 61 1112.9FGFR2, FGFR3
2pazopanib50 1110.8FGFR3, FGFR1
3regorafenib50 1110.7FGFR1, FGFR2
4sulfate44 2410.7FGFR3, FGFR2
5chondroitin sulfate44 2410.7FGFR2, FGFR1
6suramin44 28 1111.6FGFR1, FGFR2
7paraffin449.4FGFR3, FGFR4, FGFR2
8bromodeoxyuridine449.4FGFR1, FGFR2
9su5402449.4FGFR2, FGFR1, FGFR3
10phenylalanine449.4FGFR2, FGFR1, FGFR3
11lysine449.3FGFR2, FGFR1, FGFR3
12arginine449.3FGFR2, FGFR4, FGFR3
13heparan sulfate44 2410.3FGFR2, FGFR4, FGFR1
14genistein44 28 61 2 24 1114.2FGFR1, FGFR2, NPPC
15thymidine44 2410.2FGFR1, FGFR2, NPPC
16adenylate449.2NPPC, FGFR2, FGFR1
17testosterone44 61 24 1112.2FGFR1, FGFR2, NPPC
18phosphatidylinositol449.1FGFR1, FGFR4, FGFR2
19nitric oxide44 24 1111.0FGFR1, FGFR2, NPPC
20glutamate449.0FGFR3, FGFR1, FGFR2
21adp44 28 2411.0FGFR2, FGFR4, FGFR3
22agar448.9FGFR2, FGF3, FGFR1
23su 5402618.9FGFR3, FGFR2, FGFR4, FGFR1
24pd 161570618.9FGFR2, FGFR4, FGFR1, FGFR3
25fiin 1 hydrochloride618.9FGFR2, FGFR4, FGFR1, FGFR3
26pd 17307444 619.9FGFR2, FGFR4, FGFR1, FGFR3
27palifermin44 119.9FGFR2, FGFR4, FGFR1, FGFR3
28ponatinib50 119.9FGFR3, FGFR1, FGFR4, FGFR2
29phosphotyrosine448.9FGFR3, FGFR1, FGFR4, FGFR2
30threonine448.8FGFR3, FGFR1, FGFR2, NPPC
31cysteine448.8NPPC, FGFR2, FGFR1, FGFR3
32steroid448.8FGFR1, FGF3, FGFR2
33lipid448.8NPPC, FGFR2, FGFR1, FGFR3
34Adenosine triphosphate24 119.8FGFR3, FGFR4, FGFR2
35serine448.8FGFR3, FGFR1, FGFR2, NPPC
36calcium44 50 24 1111.6NPPC, FGFR2, FGFR1, FGFR3
37oligonucleotide448.6FGFR3, FGFR1, FGF3, FGFR2
38tyrosine448.3NPPC, FGFR2, FGFR4, FGFR1, FGFR3
39vegf448.0FGFR2, FGFR4, FGF3, FGFR1, FGFR3
40heparin44 28 24 1110.9FGFR1, FGF3, FGFR4, FGFR2, NPPC

GO Terms for genes affiliated with Achondroplasia

About this section

Cellular components related to Achondroplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160238.7FGFR2, FGFR1, FGFR3
2integral component of plasma membraneGO:0058878.5FGFR3, FGFR1, FGFR4, FGFR2
3extracellular regionGO:0055767.5FGFR3, FGFR1, FGF3, FGFR4, FGFR2

Biological processes related to Achondroplasia according to GeneCards/GeneDecks:

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:07030710.0FGFR3, FGFR2
2negative regulation of mitosisGO:04583910.0FGFR2, FGFR3
3alveolar secondary septum developmentGO:0611449.9FGFR3, FGFR4
4bone morphogenesisGO:0603499.9FGFR3, FGFR2
5positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.8FGFR1, FGFR3
6negative regulation of epithelial cell proliferationGO:0506809.8FGFR3, FGFR2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.8FGFR1, FGFR2
8ventricular zone neuroblast divisionGO:0218479.8FGFR1, FGFR2
9regulation of multicellular organism growthGO:0400149.8NPPC, FGFR2
10mesenchymal cell differentiationGO:0487629.8FGFR1, FGFR2
11positive regulation of canonical Wnt signaling pathwayGO:0902639.8FGFR2, FGFR3
12lung-associated mesenchyme developmentGO:0604849.7FGFR1, FGFR2
13branching involved in salivary gland morphogenesisGO:0604459.7FGFR1, FGFR2
14positive regulation of cardiac muscle cell proliferationGO:0600459.7FGFR1, FGFR2
15skeletal system morphogenesisGO:0487059.7FGFR1, FGFR2
16positive regulation of cell cycleGO:0457879.7FGFR2, FGFR1
17chondrocyte differentiationGO:0020629.7FGFR1, FGFR3
18midbrain developmentGO:0309019.7FGFR1, FGFR2
19positive regulation of mesenchymal cell proliferationGO:0020539.7FGFR1, FGFR2
20ureteric bud developmentGO:0016579.6FGFR1, FGFR2
21otic vesicle formationGO:0309169.6FGF3, FGFR2
22inner ear morphogenesisGO:0424729.5FGFR1, FGFR2
23MAPK cascadeGO:0001659.5FGFR3, FGFR1
24positive regulation of ERK1 and ERK2 cascadeGO:0703749.5FGFR3, FGFR4, FGFR2
25skeletal system developmentGO:0015019.4FGFR3, FGFR1
26positive regulation of phospholipase activityGO:0105189.4FGFR3, FGFR1, FGFR2
27post-embryonic developmentGO:0097919.4FGFR2, NPPC
28positive regulation of cell divisionGO:0517819.4FGF3, FGFR2
29positive regulation of MAPK cascadeGO:0434109.4FGFR2, FGFR1, FGFR3
30cell-cell signalingGO:0072679.1FGFR2, FGF3, FGFR3
31cell migrationGO:0164779.0FGFR1, FGFR4
32negative regulation of transcription from RNA polymerase II promoterGO:0001229.0FGFR2, FGFR1, FGFR3
33organ inductionGO:0017598.9FGFR1, FGF3, FGFR4
34peptidyl-tyrosine phosphorylationGO:0181088.9FGFR3, FGFR1, FGFR4, FGFR2
35protein autophosphorylationGO:0467778.9FGFR2, FGFR4, FGFR1, FGFR3
36phosphatidylinositol-mediated signalingGO:0480158.1FGFR3, FGFR1, FGF3, FGFR4, FGFR2
37insulin receptor signaling pathwayGO:0082868.1FGFR2, FGFR4, FGF3, FGFR1, FGFR3
38fibroblast growth factor receptor signaling pathwayGO:0085438.1FGFR3, FGFR1, FGF3, FGFR4, FGFR2
39Fc-epsilon receptor signaling pathwayGO:0380958.1FGFR2, FGFR4, FGF3, FGFR1, FGFR3
40epidermal growth factor receptor signaling pathwayGO:0071738.1FGFR2, FGFR4, FGF3, FGFR1, FGFR3
41neurotrophin TRK receptor signaling pathwayGO:0480118.1FGFR2, FGFR4, FGF3, FGFR1, FGFR3
42positive regulation of cell proliferationGO:0082848.1FGFR2, FGFR4, FGF3, FGFR1, FGFR3
43innate immune responseGO:0450878.0FGFR2, FGFR4, FGF3, FGFR1, FGFR3

Molecular functions related to Achondroplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428038.9FGFR1, FGFR2, NPPC
2heparin bindingGO:0082018.8FGFR1, FGFR4, FGFR2
3fibroblast growth factor-activated receptor activityGO:0050078.6FGFR3, FGFR1, FGFR4, FGFR2
4fibroblast growth factor bindingGO:0171348.5FGFR2, FGFR4, FGFR1, FGFR3
5protein tyrosine kinase activityGO:0047138.5FGFR2, FGFR4, FGFR1, FGFR3
6ATP bindingGO:0055248.2FGFR2, FGFR4, FGFR1, FGFR3

Products for genes affiliated with Achondroplasia

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Achondroplasia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet