ACH
MCID: ACH004
MIFTS: 78

Achondroplasia (ACH) malady

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

Summaries for Achondroplasia

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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: Achondroplasia, also known as ACH, is related to hypochondroplasia and thanatophoric dysplasia, and has symptoms including acanthosis nigricans, rachidian/spine canal stenosis and intrauterine growth retardation. 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 lung, and related mouse phenotypes are tumorigenesis and craniofacial.

Disease Ontology:9 An osteochondrodysplasia that results in dwarfism which has material basis in abnormal ossification of cartilage in located in long bone.

Genetics Home Reference:22 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:66 Achondroplasia /e??k?ndr??ple?zi?/ is a common cause of dwarfism. It occurs as a sporadic mutation in... more...

Description from OMIM:48 100800

GeneReviews summary for achondroplasia

Aliases & Classifications for Achondroplasia

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9Disease Ontology, 10diseasecard, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 41NCIt, 59SNOMED-CT, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet, 26ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
achondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Elderly


Aliases & Descriptions:

achondroplasia 9 10 66 20 44 21 23 22 48 11 46 50 63
ach 66 44 22
osteosclerosis congenita 9 66
achondroplastic dwarfism 44 22
dwarf, achondroplastic 66 22
chondrodystrophia 9 66
chondrodystrophy 44 46
congenital anomaly of cartilage 63
congenital osteosclerosis 66
chondrodystrophy syndrome 66
achondrogenesis, type ib 63
achondroplastic physique 9


External Ids:

Disease Ontology9 DOID:4480
MeSH36 D000130
OMIM48 100800
NCIt41 C34345
ICD10 via Orphanet27 Q77.4
SNOMED-CT via Orphanet60 86268005
UMLS via Orphanet64 C0001080
MESH via Orphanet37 D000130
ICD1026 Q77.4

Related Diseases for Achondroplasia

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18GeneCards, 19GeneDecks
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Diseases related to Achondroplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 123)
idRelated DiseaseScoreTop Affiliating Genes
1hypochondroplasia30.9FGFR2, FGF3, FGFR1, FGFR3
2thanatophoric dysplasia30.9FGFR3, FGFR2
3dwarfism30.7NPPC, FGFR2, FGFR1, FGFR3
4acanthosis nigricans30.6FGFR2, FGFR3
5skeletal dysplasias30.4NPPC, FGFR2, FGFR1, FGFR3
6craniosynostosis30.1FGFR2, FGFR4, FGFR1, FGFR3
7crouzon syndrome30.1FGFR2, FGFR1, FGFR3
8synostosis30.1FGFR3, FGFR1, FGFR2
9leukemia29.8FGFR3, FGFR1, FGFR4, FGFR2
10saddan10.5
11cervicitis10.4
12sleep apnea10.4
13obstructive sleep apnea10.4
14spinal stenosis10.4
15hydrocephalus10.4
16otospondylomegaepiphyseal dysplasia10.3
17achondroplasia and severe combined immunodeficiency10.3
18hypertension10.3
19schwartz jampel syndrome type 110.2
20down syndrome10.2
21sleep disorder10.2
22acute intermittent porphyria10.2
23porphyria10.2
24hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.2
25short rib-polydactyly syndrome type 210.2
26neurofibromatosis10.1
27spondyloepiphyseal dysplasia congenita10.1
28achondroplasia and swiss type agammaglobulinemia10.1
29thanatophoric dysplasia type 110.1
30short stature10.1
31osteopetrosis10.1
32osteosclerosis10.1
33osteochondroma10.1FGFR3
34beare-stevenson cutis gyrata syndrome10.1FGFR2
35antley-bixler syndrome10.1FGFR2
36osteoglophonic dysplasia10.1FGFR1
37chondrodysplasia punctata 2, x-linked10.1
38rhizomelic chondrodysplasia punctata type 110.1
39ladd syndrome10.1FGFR3, FGFR2
40strabismus10.1FGFR3, FGFR2
41pelvic lipomatosis10.1
42pseudoachondroplasia10.1
43achondrogenesis10.1
44lipomatosis10.1
45megalencephaly10.1
46syndactyly10.1FGFR3, FGFR2
47infectious mononucleosis10.0FGFR1, FGFR2
48anaplastic astrocytoma10.0FGFR2, FGFR4
49transitional cell carcinoma10.0FGFR2, FGFR3
50bladder carcinoma10.0FGFR3, FGFR2

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to achondroplasia

Symptoms for Achondroplasia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

100800

Clinical features from OMIM:

100800

Symptoms:

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

Drugs & Therapeutics for Achondroplasia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Achondroplasia

Drug clinical trials:

Search ClinicalTrials for Achondroplasia

Search NIH Clinical Center for Achondroplasia

Search CenterWatch for Achondroplasia

Genetic Tests for Achondroplasia

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21GeneTests, 23GTR
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Genetic tests related to Achondroplasia:

id Genetic test Affiliating Genes
1 Achondroplasia21 23 FGFR3

Anatomical Context for Achondroplasia

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Achondroplasia:

34
Bone, Lung, Brain, Bone marrow, Spinal cord, Skin, Pituitary, Testis, Testes, Myeloid

FMA organs/tissues related to Achondroplasia:

15
Long bone

Animal Models for Achondroplasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Achondroplasia:

38 (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

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53PubMed
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Articles related to Achondroplasia:

(show top 50)    (show all 514)
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
Respiratory difficulties and breathing disorders in achondroplasia. (23523391)
2013
4
Achondroplasia associated with bilateral keratoconus. (23259098)
2012
5
De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report. (22935513)
2012
6
Growth references for height, weight, and head circumference for Argentine children with achondroplasia. (20938683)
2011
7
Functional performance in young Australian children with achondroplasia. (21838822)
2011
8
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. (21225355)
2011
9
Callus features of regenerate fracture cases in femoral lengthening in achondroplasia. (19572129)
2010
10
Achondroplasia. (18328977)
2008
11
Ischemic brain damage induced after adenotonsillectomy in achondroplasia. (18439482)
2008
12
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. (17154237)
2007
13
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
14
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. (16411219)
2006
15
Multiplier method for prediction of adult height in patients with achondroplasia. (15958911)
2005
16
An unusual presentation of achondroplasia. Case report. (16370285)
2005
17
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
18
Management of disabilities associated with achondroplasia. (14767713)
2004
19
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. (15517832)
2004
20
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. (12816345)
2003
21
Living with achondroplasia in an average-sized world: an assessment of quality of life. (12884421)
2003
22
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. (12921294)
2003
23
Three-dimensional sonographic aspects in the antenatal diagnosis of achondroplasia. (11489233)
2001
24
Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. (10932008)
2000
25
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia. (11059551)
2000
26
Reoperation for spinal restenosis in achondroplasia. (10780694)
2000
27
Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations. (9949360)
1999
28
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. (10200283)
1999
29
Japanese sisters with Pfeiffer syndrome and achondroplasia: a mutation analysis. (9780920)
1998
30
Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans. (9124710)
1997
31
Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets. (9115628)
1996
32
Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. (8923856)
1996
33
Achondroplasia is defined by recurrent G380R mutations of FGFR3. (7847369)
1995
34
Cervicomedullary compression in achondroplasia. (8207526)
1994
35
Cognitive skills in achondroplasia. (8267016)
1993
36
Achondroplasia: unusual bone abnormalities of the cervical spine. (1635629)
1992
37
Growth hormone therapy in achondroplasia. (1632435)
1992
38
Radiographic features of the bones of the hand and wrist in achondroplasia: report of case. (1939806)
1991
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

65
id Symbol AA change Variation ID SNP ID
1FGFR3p.Gly375CysVAR_004154
2FGFR3p.Gly380ArgVAR_004155rs28931614
3FGFR3p.Lys650MetVAR_004161

Clinvar genetic disease variations for Achondroplasia:

1
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
6SLC26A2NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter)single nucleotide variantPathogenicrs104893919GRCh37Chr 5, 149357747: 149357747
7SLC26A2NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp)single nucleotide variantPathogenicrs104893920GRCh37Chr 5, 149360429: 149360429
8SLC26A2NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val)single nucleotide variantPathogenicrs104893916GRCh37Chr 5, 149361189: 149361189
9SLC26A2NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del)deletionPathogenicrs121908077GRCh37Chr 5, 149360176: 149360178

Expression for genes affiliated with Achondroplasia

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 5Cell Signaling Technology, 54QIAGEN, 62Tocris Bioscience, 55R&D Systems, 52PharmGKB, 58SinoBiological, 61Thomson Reuters
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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 Glioblastoma39
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 pathway39
7.6FGFR2, FGFR4, FGF3, FGFR1, FGFR3

Compounds for genes affiliated with Achondroplasia

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46Novoseek, 52PharmGKB, 62Tocris Bioscience, 12DrugBank, 25HMDB, 30IUPHAR, 3BitterDB
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Compounds related to Achondroplasia according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1thalidomide46 52 62 1212.9FGFR2, FGFR3
2pazopanib52 1210.8FGFR3, FGFR1
3regorafenib52 1210.7FGFR1, FGFR2
4sulfate46 2510.7FGFR3, FGFR2
5chondroitin sulfate46 2510.7FGFR2, FGFR1
6suramin46 30 1211.6FGFR1, FGFR2
7paraffin469.4FGFR3, FGFR4, FGFR2
8bromodeoxyuridine469.4FGFR1, FGFR2
9su5402469.4FGFR2, FGFR1, FGFR3
10phenylalanine469.4FGFR2, FGFR1, FGFR3
11lysine469.3FGFR2, FGFR1, FGFR3
12arginine469.3FGFR2, FGFR4, FGFR3
13heparan sulfate46 2510.3FGFR2, FGFR4, FGFR1
14genistein46 30 62 3 25 1214.2FGFR1, FGFR2, NPPC
15thymidine46 2510.2FGFR1, FGFR2, NPPC
16adenylate469.2NPPC, FGFR2, FGFR1
17testosterone46 62 25 1212.2FGFR1, FGFR2, NPPC
18phosphatidylinositol469.1FGFR1, FGFR4, FGFR2
19nitric oxide46 25 1211.0FGFR1, FGFR2, NPPC
20glutamate469.0FGFR3, FGFR1, FGFR2
21adp46 30 2511.0FGFR2, FGFR4, FGFR3
22agar468.9FGFR2, FGF3, FGFR1
23su 5402628.9FGFR3, FGFR2, FGFR4, FGFR1
24pd 161570628.9FGFR2, FGFR4, FGFR1, FGFR3
25fiin 1 hydrochloride628.9FGFR2, FGFR4, FGFR1, FGFR3
26pd 17307446 629.9FGFR2, FGFR4, FGFR1, FGFR3
27palifermin46 129.9FGFR2, FGFR4, FGFR1, FGFR3
28ponatinib52 129.9FGFR3, FGFR1, FGFR4, FGFR2
29phosphotyrosine468.9FGFR3, FGFR1, FGFR4, FGFR2
30threonine468.8FGFR3, FGFR1, FGFR2, NPPC
31cysteine468.8NPPC, FGFR2, FGFR1, FGFR3
32steroid468.8FGFR1, FGF3, FGFR2
33lipid468.8NPPC, FGFR2, FGFR1, FGFR3
34Adenosine triphosphate25 129.8FGFR3, FGFR4, FGFR2
35serine468.8FGFR3, FGFR1, FGFR2, NPPC
36calcium46 52 25 1211.6NPPC, FGFR2, FGFR1, FGFR3
37oligonucleotide468.6FGFR3, FGFR1, FGF3, FGFR2
38tyrosine468.3NPPC, FGFR2, FGFR4, FGFR1, FGFR3
39vegf468.0FGFR2, FGFR4, FGF3, FGFR1, FGFR3
40heparin46 30 25 1210.9FGFR1, FGF3, FGFR4, FGFR2, NPPC

GO Terms for genes affiliated with Achondroplasia

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17Gene Ontology
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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

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Sources for Achondroplasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet