ACH
MCID: ACH004
MIFTS: 83

Achondroplasia (ACH) malady

Bone diseases, Fetal diseases categories

Summaries for Achondroplasia

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: 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 FGFR1c and Klotho ligand binding and activation and FGFR1b ligand binding and activation. The compounds estrogen and SU4984 have been mentioned in the context of this disorder. Affiliated tissues include long bone, bone and lung, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

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

Description from OMIM:46 100800

GeneReviews summary for achondroplasia

Aliases & Classifications for Achondroplasia

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8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: 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


Aliases & Descriptions:

achondroplasia 8 9 63 19 42 20 22 21 46 10 44 48 60
ach 63 42 21
osteosclerosis congenita 8 63
achondroplastic dwarfism 42 21
dwarf, achondroplastic 63 21
chondrodystrophia 8 63
chondrodystrophy 42 44
congenital anomaly of cartilage 60
congenital osteosclerosis 63
chondrodystrophy syndrome 63
achondrogenesis, type ib 60
achondroplastic physique 8


External Ids:

Disease Ontology8 DOID:4480
OMIM46 100800
MeSH34 D000130
NCIt39 C34345
ICD10 via Orphanet26 Q77.4
SNOMED-CT via Orphanet57 86268005
UMLS via Orphanet61 C0001080
MESH via Orphanet35 D000130
ICD1025 Q77.4

Related Diseases for Achondroplasia

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17GeneCards, 18GeneDecks
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Diseases related to Achondroplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 330)
idRelated DiseaseScoreTop Affiliating Genes
1hypochondroplasia31.0SHOX, FGFR2, FGF3, FGFR1, FGFR3
2thanatophoric dysplasia30.7COMP, FGFR2, FGFR3, PTH1R
3dwarfism30.6COMP, COL2A1, SOX9, NPPC, SHOX, MAP2K1
4pseudoachondroplasia30.1ACAN, COMP
5craniosynostosis30.1FGFR2, FGFR1, FGFR3, FGFR4, FGF9, MSX2
6pancreatitis30.0MAPK10
7adenocarcinoma30.0NPPC, MAP2K1, FGFR2, FGFR1, F2RL2
8crouzon syndrome30.0MSX2, FGFR3, FGFR1, FGFR2
9breast cancer30.0MAPK10, FGFR2, FGF3, FGFR1, PTH1R
10synostosis30.0MSX2, FGFR3, FGFR1, FGFR2
11osteochondrodysplasia29.9PTH1R, FGFR3, SOX9, COMP
12osteosarcoma29.9PTH1R, MAPK10, MAP2K1, SOX9
13ovarian cancer29.9MAP2K1, MAPK10, FGFR2, FGF3, F2RL2
14hepatocellular carcinoma29.9MAP2K1, FGFR2, FGF3, FGFR1, FGFR4, F2RL2
15prostate cancer29.9MAP2K1, MAPK10, FGFR2, FGFR1, PTH1R
16pancreatic cancer29.9COMP, MAP2K1, MAPK10, FGFR2, FGFR1, FGFR4
17multiple epiphyseal dysplasia29.8ACAN, COMP
18muenke syndrome29.8FGFR3, FGFR1, FGFR2
19osteogenesis imperfecta29.8COL2A1, FGFR3, PTH1R
20leukemia29.8MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3, FGFR4
21thyroid cancer29.6FGFR2, MAPK10
22retinoblastoma29.6MAP2K1, MAPK10, FGFR2, FGF3, FGFR3
23achondrogenesis type ib10.7
24saddan10.4
25alzheimer's disease10.4
26neuronitis10.4
27spinal stenosis10.3
28cervicitis10.3
29hydrocephalus10.3
30acanthosis nigricans10.3
31otospondylomegaepiphyseal dysplasia10.3
32achondroplasia and severe combined immunodeficiency10.3
33diastrophic dysplasia10.2
34hypertension10.2
35schwartz jampel syndrome type 110.2
36glaucoma10.2
37down syndrome10.2
38sleep disorder10.2
39hirschsprung's disease10.1
40dementia10.1
41prostatitis10.1
42endplate acetylcholinesterase deficiency10.1
43acute intermittent porphyria10.1
44acute porphyria10.1
45porphyria10.1
46hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.1
47short rib-polydactyly syndrome type 210.1
48neurofibromatosis10.1
49spondyloepiphyseal dysplasia congenita10.1
50achondroplasia and swiss type agammaglobulinemia10.1

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to achondroplasia

Clinical Features for Achondroplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

100800

Clinical synopsis from OMIM:

100800

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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Genetic tests related to Achondroplasia:

id Genetic test Affiliating Genes
1 Achondroplasia20 22 FGFR3

Anatomical Context for Achondroplasia

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Achondroplasia:

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

FMA organs/tissues related to Achondroplasia:

14
Long bone

Animal Models for Achondroplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Achondroplasia:

36 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.6COL2A1, FGFR2, FGFR3, FGFR4, FGF9, ACAN
2MP:00053799.6BMP8B, MAP2K1, FGFR2, FGFR1, MSX2, SPRY2
3MP:00053719.4SPRY2, COMP, COL2A1, NPPC, FGF3, FGF9
4MP:00053699.4COMP, SOX9, FGFR1, FGF9, ACAN, MSX2
5MP:00107719.4MAP2K1, FGFR2, FGFR1, FGF9, MSX2
6MP:00053899.3NPPC, BMP8B, MAP2K1, FGFR2, FGF3, FGFR3
7MP:00053779.3COL2A1, SOX9, MAP2K1, FGF3, FGFR3, FGF9
8MP:00053919.2COL2A1, SOX9, MAP2K1, FGFR2, FGFR1, FGFR3
9MP:00053809.1COL2A1, SOX9, BMP8B, MAP2K1, FGFR2, FGF3
10MP:00053859.0COL2A1, SOX9, MAP2K1, MAPK10, FGFR2, FGFR1
11MP:00028739.0COMP, COL2A1, SOX9, MAP2K1, FGFR2, FGF3
12MP:00053848.9BMP8B, MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3
13MP:00053868.9COMP, COL2A1, SOX9, MAPK10, FGFR2, FGF3
14MP:00053908.9FGFR2, NPPC, SOX9, COL2A1, COMP, FGF3
15MP:00053878.9COMP, COL2A1, SOX9, BMP8B, FGFR2, FGFR1
16MP:00053828.8FGFR2, MAP2K1, NPPC, SOX9, COL2A1, FGFR1
17MP:00036318.8COL2A1, SOX9, NPPC, MAP2K1, MAPK10, FGFR2
18MP:00053818.7FGFR1, FGFR2, MAP2K1, SOX9, COL2A1, FGFR3
19MP:00053768.6SOX9, NPPC, MAP2K1, MAPK10, FGFR2, FGFR3
20MP:00107688.3FGFR2, MAP2K1, BMP8B, NPPC, SOX9, COL2A1
21MP:00053787.9FGFR2, MAP2K1, BMP8B, NPPC, SOX9, COL2A1

Publications for Achondroplasia

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50PubMed
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Articles related to Achondroplasia:

(show top 50)    (show all 518)
idTitleAuthorsYear
1
FGFR3 mutation causes abnormal membranous ossification in achondroplasia. (24419316)
2014
2
Respiratory difficulties and breathing disorders in achondroplasia. (23523391)
2013
3
New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. (23740942)
2013
4
Increased sacral uptake on a bone scan with SPECT/CT in a patient with achondroplasia: normal or abnormal? (23868929)
2013
5
Achondroplasia and periodontal disease. (22628982)
2012
6
FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. (21324899)
2011
7
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. (19622626)
2009
8
Editorial. Achondroplasia. (19795958)
2009
9
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. (18698630)
2008
10
Otolaryngologic manifestations of achondroplasia. (17372080)
2007
11
Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. (16572633)
2006
12
Posterior osteotomy and instrumentation for thoracolumbar kyphosis in patients with achondroplasia. (16924200)
2006
13
Orthodontic management of achondroplasia. (16909171)
2006
14
The sagging rope sign in achondroplasia--different from Perthes' disease. (16775711)
2006
15
Morphometric determinants of the sagittal dimensions of the cervical spinal canal in achondroplasia: an analysis of the reliability of the Torg ratio. (17021417)
2006
16
Aspects of achondroplasia in the skulls of dwarf transgenic mice: a cephalometric study. (16463380)
2006
17
Survey of the present status of sleep-disordered breathing in children with achondroplasia Part I. A questionnaire survey. (15763281)
2005
18
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. (15517832)
2004
19
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis. (15221641)
2004
20
Living with achondroplasia: attitudes toward population screening and correlation with quality of life. (14663838)
2003
21
Deformities of the elbow in achondroplasia. (12188484)
2002
22
Severe pulmonary hypertension in an infant with achondroplasia. (11589938)
2001
23
Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. (10932008)
2000
24
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia. (11059551)
2000
25
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. (11186940)
2000
26
Effects of lower-leg lengthening on bone mineral density and soft tissue composition of legs in a patient with achondroplasia. (11052467)
2000
27
Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. (10445347)
1999
28
Japanese sisters with Pfeiffer syndrome and achondroplasia: a mutation analysis. (9780920)
1998
29
Achondroplasia: molecular study of 28 patients]. (9611730)
1998
30
1997 Albert Lasker Award for Special Achievement in Medical Science. Observations over 50 years concerning intestinal polyposis, Marfan syndrome and achondroplasia. (9334707)
1997
31
Prevention of fixed, angular kyphosis in achondroplasia. (9591973)
1997
32
Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems. (8779333)
1996
33
Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia]. (8949408)
1996
34
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. (8599935)
1996
35
Achondroplasia. (8920380)
1996
36
Craniocervical stenosis and apnea spells in a 2-month-old baby with achondroplasia. (8576562)
1995
37
Surgical intervention in achondroplasia. (7762574)
1995
38
Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. (7649548)
1995
39
Health supervision for children with achondroplasia. American Academy of Pediatrics Committee on Genetics. (7862491)
1995
40
Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. (7887429)
1995
41
Achondroplasia with XXY karyotype. (8062443)
1994
42
Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia. (1909491)
1991
43
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. (1670752)
1991
44
Bes, Aesop and Morgante: reflections of achondroplasia. (2190719)
1990
45
Human achondroplasia: defective mitochondrial oxidative energy metabolism may produce the pathophysiology. (2560262)
1989
46
Relevant principles in the management of spinal disorders in achondroplasia. (3240264)
1988
47
The skull in achondroplasia. (3240239)
1988
48
Otologic impairments in achondroplasia: a nosologic assessment. (3240244)
1988
49
A case report of achondroplasia. (3100179)
1986
50
Presumed homozygous achondroplasia. A review and report of a further case. (6359101)
1983

Genetic Variations for Achondroplasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Achondroplasia:

62
id Symbol AA change Variation ID SNP ID
1FGFR3p.Gly375CysVAR_004154
2FGFR3p.Gly380ArgVAR_004155rs28931614
3FGFR3p.Lys650MetVAR_004161

Expression for genes affiliated with Achondroplasia

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1BioGPS, 15Gene 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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53Reactome, 51QIAGEN, 52R&D Systems, 4Cell Signaling Technology, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 49PharmGKB, 59Tocris Bioscience, 55SinoBiological
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Pathways related to Achondroplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2FGFR1, FGFR4
2
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10.2FGF3, FGFR2
3
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10.2FGFR2, MAP2K1
4
Hide members
10.0FGFR1, MAP2K1, COL2A1
510.0ACAN, COL2A1, COMP
610.0FGFR2, FGFR1, FGFR3, FGFR4
710.0FGFR2, FGFR1, FGFR3, FGFR4
810.0FGFR2, FGFR1, FGFR3, FGFR4
9
Hide members
10.0FGFR2, FGFR1, FGFR3, FGFR4
1010.0FGFR2, FGFR1, FGFR3, FGFR4
119.9FGFR2, FGFR1, FGFR4, SPRY2
12
Hide members
9.9MAP2K1, MAPK10, F2RL2
139.8MAP2K1, FGF3, FGFR1, FGF9
14
Hide members
9.8FGFR4, FGFR3, FGFR1, FGFR2, MAP2K1
15
Hide members
9.8MAP2K1, FGFR2, FGFR1, FGFR3, FGFR4
16
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9.8FGFR4, FGFR3, FGFR1, FGFR2, MAPK10
17
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9.8MAPK10, FGFR2, FGFR1, FGFR3, FGFR4
18
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9.8FGFR2, FGFR1, FGFR3, FGFR4, MAPK10
19
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9.8COMP, COL2A1, MAP2K1, MAPK10
20
Hide members
9.6FGFR2, FGF3, FGFR1, FGFR3, FGFR4, FGF9
21
Hide members
9.6FGFR2, FGF3, FGFR1, FGFR3, FGFR4, FGF9
22
Hide members
9.6FGFR2, FGF3, FGFR1, FGFR3, FGFR4, FGF9
239.6COL2A1, SOX9, FGFR2, FGFR1, FGFR3, MSX2
24
Hide members
9.6COL2A1, MAP2K1, FGFR2, FGFR1, FGFR3, FGFR4
25
Hide members
9.6MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3, FGFR4
26
Hide members
9.6MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3, FGFR4
27
Hide members
9.6MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3, FGFR4
28
Hide members
9.6MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3, FGFR4
29
Hide members
9.6MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3, FGFR4
30
Hide members
9.6MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3, FGFR4
31
Hide members
9.6MAP2K1, MAPK10, FGFR2, FGFR1, FGFR3, FGFR4
329.5COL2A1, SOX9, FGFR1, FGFR3, ACAN, PTH1R
33
Hide members
9.4FGF9, MAP2K1, FGFR2, FGF3, FGFR1, FGFR3
34
Hide members
9.4MAP2K1, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
35
Hide members
9.4MAP2K1, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
36
Hide members
9.4MAP2K1, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
37
Hide members
9.4MAPK10, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
389.3MAP2K1, MAPK10, FGFR2, FGF3, FGFR1, FGFR3
39
Hide members
9.3MAP2K1, FGFR2, FGF3, FGFR1, FGFR3, FGF9
40
Hide members
9.2COL2A1, SOX9, MAP2K1, MAPK10, FGFR2, FGFR1
41
Development FGF-family signaling
Hide members
9.2MAP2K1, MAPK10, FGFR2, FGF3, FGFR1, FGFR3
42
Hide members
9.2MAP2K1, MAPK10, FGFR2, FGF3, FGFR1, FGFR3
43
Hide members
9.2MAP2K1, MAPK10, FGFR2, FGF3, FGFR1, FGFR3
44
Hide members
9.2MAP2K1, MAPK10, FGFR2, FGF3, FGFR1, FGFR3
45
Hide members
9.2MAP2K1, MAPK10, FGFR2, FGF3, FGFR1, FGFR3
469.1COMP, COL2A1, MAP2K1, FGFR2, FGF3, FGFR1
479.0MAP2K1, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
48
Hide members
9.0COL2A1, MAP2K1, FGFR2, FGF3, FGFR1, FGFR3
49
Hide members
9.0MAP2K1, MAPK10, FGFR2, FGF3, FGFR1, FGFR3
50
Hide members
8.6COL2A1, MAP2K1, FGFR2, FGF3, FGFR1, FGFR3

Compounds for genes affiliated with Achondroplasia

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 2BitterDB
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Compounds related to Achondroplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1estrogen4410.6SHOX
2SU49841110.6FGFR1, FGFR2
3su54024410.5FGFR1, FGFR2, FGFR3
4glutamate4410.5F2RL2
5heparin44 28 11 2413.5FGF9, FGF3
6pd 1615705910.4FGFR2, FGFR4, FGFR3, FGFR1
7fiin 1 hydrochloride5910.4FGFR2, FGFR1, FGFR3, FGFR4
8su 54025910.4FGFR1, FGFR2, FGFR3, FGFR4
9pd 17307444 5911.4FGFR2, FGFR1, FGFR3, FGFR4
10palifermin44 1111.4FGFR2, FGFR4, FGFR3, FGFR1
11Ponatinib 1110.4FGFR1, FGFR3, FGFR4, FGFR2
12pentosidine4410.4COMP, ACAN, COL2A1
13procollagen4410.3ACAN, COL2A1
14heparan sulfate44 2411.2ACAN, FGFR1, FGFR2, FGFR4
15alginate4410.2COMP, ACAN, SOX9, COL2A1
16pge24410.2ACAN, F2RL2, PTH1R
17imatinib44 49 1112.2MAP2K1, MAPK10, FGFR1, FGFR3
18chondroitin sulfate44 2411.1SOX9, FGFR2, FGFR1, ACAN, COMP
19glyceraldehyde 3-phosphate4410.1SOX9, ACAN, FGFR1, FGFR2
20sulfate44 2411.1FGFR3, COMP, COL2A1, FGFR2, ACAN
21agar4410.1FGFR1, FGFR2, MAP2K1, FGF3
22glycosaminoglycan4410.1ACAN, FGFR2, COMP, COL2A1, SOX9
23ribonucleic acid4410.1FGFR2, SOX9, FGFR1, PTH1R
24serine4410.1COL2A1, PTH1R, SOX9, MAP2K1, FGFR3
25vitamin d4410.0FGFR2, PTH1R, COMP, COL2A1, ACAN
26dexamethasone44 49 28 1113.0ACAN, COL2A1, PTH1R, MAP2K1, NPPC
27pd 98,0594410.0ACAN, FGFR1, FGFR2, MAPK10, MAP2K1
28phosphotyrosine4410.0FGFR4, FGFR3, MAP2K1, MAPK10, FGFR2, FGFR1
29lysine4410.0FGFR3, FGFR2, MAP2K1, COL2A1, FGFR1
30genistein44 28 59 2 11 2415.0FGFR2, FGFR1, NPPC, MAP2K1, MAPK10
31paclitaxel44 49 1112.0FGFR2, MAPK10, MAP2K1
32forskolin44 49 1112.0FGFR1, NPPC, PTH1R, MAPK10, MAP2K1
3312-o-tetradecanoylphorbol 13-acetate449.9MAPK10, FGFR2, FGFR1, MAP2K1
34adenylate449.9NPPC, FGFR1, PTH1R, MAPK10, FGFR2
35thymidine44 2410.9PTH1R, NPPC, FGFR1, MAP2K1, MAPK10, FGFR2
36proline449.9SOX9, PTH1R, ACAN, FGFR2, COMP, MAP2K1
37nitric oxide44 11 2411.9PTH1R, MAP2K1, COL2A1, ACAN, FGFR1, NPPC
38oligonucleotide449.9FGF3, MSX2, FGFR1, FGFR3, COMP, COL2A1
39sb 20358044 5910.9ACAN, FGFR1, MAPK10, MAP2K1
40histamine44 28 2411.8NPPC, MAP2K1, FGFR1, MAPK10
41threonine449.8PTH1R, FGFR3, FGFR1, FGFR2, MAP2K1, NPPC
42cysteine449.8FGFR3, FGFR1, FGFR2, MAP2K1, NPPC, COL2A1
43suramin44 28 1111.7FGFR2, MAPK10, FGFR1
44steroid449.6MSX2, COMP, SOX9, SHOX, PTH1R, MAP2K1
45testosterone44 59 11 2412.6FGFR1, MAP2K1, NPPC, SOX9, FGFR2
46glucose449.6FGFR1, MAP2K1, COMP, FGFR2, F2RL2, TKTL1
47tyrosine449.4FGFR1, FGFR2, FGFR3, FGFR4, NPPC, MAPK10
48retinoic acid44 2410.3ACAN, FGFR1, FGFR2, MAPK10, MAP2K1, NPPC
49vegf449.3SOX9, MAP2K1, MAPK10, FGFR2, FGF3, FGFR3
50calcium44 49 11 2411.6COL2A1, BMP8B, MAPK10, F2RL2, FGF9, FGFR3

GO Terms for genes affiliated with Achondroplasia

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16Gene Ontology
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Cellular components related to Achondroplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:01602310.1FGFR3, FGFR1, FGFR2
2integral to plasma membraneGO:0058879.3FGFR2, FGFR1, FGFR3, FGFR4, F2RL2, PTH1R
3extracellular regionGO:0055768.6ACAN, COMP, COL2A1, NPPC, FGFR2, FGF3

Biological processes related to Achondroplasia according to GeneCards/GeneDecks:

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1alveolar secondary septum developmentGO:06114410.6FGFR3, FGFR4
2fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.5FGFR2, FGFR1
3ventricular zone neuroblast divisionGO:02184710.5FGFR1, FGFR2
4endochondral bone growthGO:00341610.5FGFR3, MSX2
5positive regulation of phospholipase activityGO:01051810.5FGFR3, FGFR1, FGFR2
6positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.5FGFR3, FGFR1
7negative regulation of mitosisGO:04583910.5FGFR3, FGFR2
8mesenchymal cell differentiationGO:04876210.4FGFR1, FGFR2
9otic vesicle formationGO:03091610.4SOX9, FGFR2, FGF3
10organ inductionGO:00175910.4FGF3, FGFR1, FGFR4
11limb bud formationGO:06017410.4FGFR2, SOX9, COL2A1
12lung-associated mesenchyme developmentGO:06048410.4FGF9, FGFR1, FGFR2
13lens fiber cell developmentGO:07030710.4FGFR3, FGFR2
14positive regulation of cardiac muscle cell proliferationGO:06004510.3FGF9, FGFR1, FGFR2
15peptidyl-tyrosine phosphorylationGO:01810810.3FGFR2, FGFR1, FGFR3, FGFR4
16notochord developmentGO:03090310.3SOX9, COL2A1
17positive regulation of cell divisionGO:05178110.3FGF9, FGF3, FGFR2
18positive regulation of canonical Wnt receptor signaling pathwayGO:09026310.3FGF9, FGFR3, FGFR2
19MAPK cascadeGO:00016510.3MAP2K1, FGFR1, FGFR3
20protein autophosphorylationGO:04677710.3FGFR2, FGFR1, FGFR3, FGFR4
21positive regulation of epithelial cell proliferationGO:05067910.2SOX9, FGFR2, FGF9
22positive regulation of MAPK cascadeGO:04341010.2FGFR2, FGFR1, FGFR3, FGF9
23positive regulation of ERK1 and ERK2 cascadeGO:07037410.2FGFR2, FGFR3, FGFR4, SPRY2
24positive regulation of mesenchymal cell proliferationGO:00205310.2SOX9, FGFR2, FGFR1, FGF9
25branching involved in salivary gland morphogenesisGO:06044510.2FGFR2, FGFR1
26outflow tract septum morphogenesisGO:00314810.1FGFR2, MSX2
27chondrocyte differentiationGO:00206210.1COL2A1, FGFR1, FGFR3, FGF9, PTH1R
28cartilage developmentGO:05121610.1COL2A1, SOX9, BMP8B
29ossificationGO:00150310.0SOX9, NPPC, BMP8B
30phosphatidylinositol-mediated signalingGO:04801510.0FGFR2, FGF3, FGFR1, FGFR3, FGFR4, FGF9
31inner ear morphogenesisGO:04247210.0COL2A1, FGFR2, FGFR1, FGF9, SPRY2
32sensory perception of soundGO:00760510.0SPRY2, FGFR1, COL2A1
33negative regulation of cell proliferationGO:0082859.9NPPC, MAP2K1, FGFR2, MSX2, PTH1R, SPRY2
34extracellular matrix organizationGO:0301989.9COMP, COL2A1, SOX9, ACAN
35insulin receptor signaling pathwayGO:0082869.8MAP2K1, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
36tissue homeostasisGO:0018949.8SOX9, COL2A1
37neurotrophin TRK receptor signaling pathwayGO:0480119.8MAP2K1, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
38negative regulation of apoptotic processGO:0430669.7COMP, COL2A1, SOX9, FGFR1, FGFR3, MSX2
39positive regulation of cell proliferationGO:0082849.7SOX9, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
40Fc-epsilon receptor signaling pathwayGO:0380959.6MAP2K1, MAPK10, FGFR2, FGF3, FGFR1, FGFR3
41fibroblast growth factor receptor signaling pathwayGO:0085439.6MAP2K1, FGFR2, FGF3, FGFR1, FGFR3, FGFR4
42innate immune responseGO:0450879.6MAP2K1, MAPK10, FGFR2, FGF3, FGFR1, FGFR3
43epidermal growth factor receptor signaling pathwayGO:0071739.5SOX9, MAP2K1, FGFR2, FGF3, FGFR1, FGFR3
44skeletal system developmentGO:0015019.4PTH1R, COMP, COL2A1, SOX9, BMP8B, SHOX

Molecular functions related to Achondroplasia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00500710.1FGFR4, FGFR3, FGFR1, FGFR2
2MAP kinase kinase activityGO:00470810.1MAPK10, MAP2K1
3fibroblast growth factor bindingGO:01713410.1FGFR2, FGFR1, FGFR3, FGFR4
4protein tyrosine kinase activityGO:0047139.8FGFR4, FGFR3, FGFR1, FGFR2, MAP2K1
5protein serine/threonine kinase activator activityGO:0435399.8SPRY2, MAP2K1
6heparin bindingGO:0082019.7COMP, FGFR2, FGFR1, FGFR4, FGF9
7protein bindingGO:0055158.2COMP, SOX9, SHOX, MAP2K1, MAPK10, FGFR2

Products for genes affiliated with Achondroplasia

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  • Antibodies
  • Proteins
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  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet