ACH
MCID: ACH004
MIFTS: 66

Achondroplasia (ACH) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Achondroplasia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Achondroplasia:

Name: Achondroplasia 52 11 71 23 48 24 25 54 70 27 12 50 39 13 68
Achondroplastic Dwarfism 48 25 68
Ach 48 25 70
Achondroplastic Physique 11
 
Osteosclerosis Congenita 11
Dwarf, Achondroplastic 25
Chondrodystrophia 11

Characteristics:

Orphanet epidemiological data:

54
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:

64
achondroplasia:
Inheritance: autosomal dominant inheritance
Mortality/Aging: death in infancy

GeneReviews:

23
Penetrance: penetrance is 100%, meaning that all individuals who have a single copy of one of the fgfr3 pathogenic variants giving rise to achondroplasia have the clinical manifestations of the disorder...


Classifications:



External Ids:

OMIM52 100800
Disease Ontology11 DOID:4480
ICD1030 Q77.4
MeSH39 D000130
NCIt45 C34345
Orphanet54 ORPHA15
UMLS via Orphanet69 C0001080
MESH via Orphanet40 D000130
ICD10 via Orphanet31 Q77.4
MedGen37 C0001080

Summaries for Achondroplasia

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NIH Rare Diseases:48 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 achondroplastic dwarfism, is related to saddan and crouzon syndrome with acanthosis nigricans, and has symptoms including Array, Array and Array. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Signal transduction by L1 and Angiogenesis (CST). Affiliated tissues include long bone, bone and brain, and related mouse phenotypes are digestive/alimentary and hearing/vestibular/ear.

Disease Ontology:11 An osteochondrodysplasia that results in dwarfism which has material basis in abnormal ossification of cartilage in located in long bone.

Genetics Home Reference:25 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:52 Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by... (100800) more...

UniProtKB/Swiss-Prot:70 Achondroplasia: A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands.

Wikipedia:71 Achondroplasia is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 80% of... more...

GeneReviews 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 114)
idRelated DiseaseScoreTop Affiliating Genes
1saddan32.8FGF3, FGFR1, FGFR2, FGFR3
2crouzon syndrome with acanthosis nigricans28.7FGF3, FGFR1, FGFR2, FGFR3, NPPC, SHOX
3thanatophoric dysplasia, type i27.1ACAN, BMP8B, FGF3, FGFR1, FGFR2, FGFR3
4achondroplasia and severe combined immunodeficiency12.1
5achondroplasia and swiss type agammaglobulinemia11.8
6hypochondroplasia11.6
7dwarfism11.3
8pseudoachondroplasia11.1
9short-limb skeletal dysplasia with severe combined immunodeficiency11.0
10chondrodysplasia punctata, rhizomelic, type 110.8
11chondrodysplasia punctata, x-linked dominant10.8
12x-linked chondrodysplasia punctata10.8
13hydrocephalus, nonsyndromic, autosomal recessive10.8
14mesomelia10.8
15combined oxidative phosphorylation deficiency 210.1ACAN, FGFR3
16short stature with nonspecific skeletal abnormalities10.1FGFR3, NPPC
17autism susceptibility, x-linked 210.1FGFR3, SHOX
1813q12.3 microdeletion syndrome10.1FGFR3, PTH1R, SOX9
19vulvovaginitis10.0FGFR3, PTH1R, SOX9
20antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.0FGFR2, FGFR3
21cervicitis10.0
22sleep disorder10.0
23cervical spinal canal and spinal cord meningioma10.0FGFR2, FGFR3
24t cell immunodeficiency primary10.0FGFR1, FGFR3, SOX9
25pkp1-related ectodermal dysplasia/skin fragility syndrome10.0FGFR1, FGFR2
26spinal stenosis10.0
27sleep apnea10.0
28breast intracanalicular fibroadenoma10.0FGFR1, PTH1R, SOX9
29pitx3-related anterior segment mesenchymal dysgenesis10.0FGFR1, FGFR2
30obstructive sleep apnea10.0
31acanthosis nigricans10.0
32aica-ribosiduria due to atic deficiency10.0FGFR2, FGFR3
33slti salem syndrome9.9FGFR3, NPPC, PTH1R, SOX9
34muenke syndrome9.9FGFR2, FGFR3, PTH1R
35hydrocephalus9.9
36skeletal dysplasias9.9
37skeletal dysplasia9.9
38acrofacial dysostosis, palagonia type9.9FGFR1, FGFR2
39familial porphyria cutanea tarda9.9FGFR1, FGFR2, FGFR3
40hartsfield syndrome9.9FGFR1, FGFR2, FGFR3
41pointer syndrome9.9FGFR1, FGFR2, FGFR3
42osteoglophonic dysplasia9.9FGFR1, FGFR2, FGFR3
43scaphocephaly, maxillary retrusion, and mental retardation9.9FGFR1, FGFR2, FGFR3
44apert syndrome9.9FGFR1, FGFR2, FGFR3
45cervical cancer, somatic9.9FGFR1, FGFR2, FGFR3
46robinow-sorauf syndrome9.9FGFR1, FGFR2, FGFR3
47epidemic typhus9.9FGFR1, FGFR2
48atrophy of testis9.9FGFR1, FGFR2, FGFR3
49down syndrome9.9
50hypogonadotropic hypogonadism 2 with or without anosmia9.9FGFR1, FGFR2, FGFR3

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to achondroplasia

Symptoms & Phenotypes for Achondroplasia

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Symptoms by clinical synopsis from OMIM:

100800

Clinical features from OMIM:

100800

Human phenotypes related to Achondroplasia:

 54 64 (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus64 54 Occasional (29-5%) HP:0000238
2 macrocephaly64 54 Very frequent (99-80%) HP:0000256
3 chronic otitis media64 54 Very frequent (99-80%) HP:0000389
4 conductive hearing impairment64 54 Frequent (79-30%) HP:0000405
5 anteverted nares64 54 Very frequent (99-80%) HP:0000463
6 dental crowding64 54 Frequent (79-30%) HP:0000678
7 dental malocclusion64 54 Frequent (79-30%) HP:0000689
8 abnormality of the ribs64 54 Very frequent (99-80%) HP:0000772
9 narrow chest64 54 Frequent (79-30%) HP:0000774
10 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
11 acanthosis nigricans64 54 Occasional (29-5%) HP:0000956
12 hyperhidrosis64 54 Frequent (79-30%) HP:0000975
13 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
14 dysarthria64 54 Occasional (29-5%) HP:0001260
15 joint stiffness64 54 Occasional (29-5%) HP:0001387
16 intrauterine growth retardation64 54 Frequent (79-30%) HP:0001511
17 obesity64 54 Frequent (79-30%) HP:0001513
18 death in infancy54 Occasional (29-5%)
19 sudden cardiac death64 54 Occasional (29-5%) HP:0001645
20 frontal bossing64 54 Very frequent (99-80%) HP:0002007
21 apnea54 Frequent (79-30%)
22 ventriculomegaly64 54 Frequent (79-30%) HP:0002119
23 neurological speech impairment54 Occasional (29-5%)
24 wormian bones64 54 Very frequent (99-80%) HP:0002645
25 kyphosis64 54 Frequent (79-30%) HP:0002808
26 abnormality of the ilium54 Frequent (79-30%)
27 obstructive sleep apnea64 54 Frequent (79-30%) HP:0002870
28 genu varum64 54 Very frequent (99-80%) HP:0002970
29 elbow dislocation64 54 Occasional (29-5%) HP:0003042
30 hyperlordosis64 54 Very frequent (99-80%) HP:0003307
31 abnormal form of the vertebral bodies64 54 Frequent (79-30%) HP:0003312
32 spinal canal stenosis64 54 Occasional (29-5%) HP:0003416
33 diaphyseal thickening64 54 Frequent (79-30%) HP:0005019
34 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
35 joint hyperflexibility64 54 Frequent (79-30%) HP:0005692
36 bowing of the long bones54 Frequent (79-30%)
37 narrow sacroiliac notch64 54 Frequent (79-30%) HP:0008803
38 disproportionate short-limb short stature54 Very frequent (99-80%)
39 rhizomelia64 54 Very frequent (99-80%) HP:0008905
40 neonatal short-limb short stature64 54 Very frequent (99-80%) HP:0008921
41 abnormality of the elbow54 Frequent (79-30%)
42 midface retrusion64 54 Frequent (79-30%) HP:0011800
43 long thorax64 54 Frequent (79-30%) HP:0100818
44 malar flattening64 HP:0000272
45 recurrent otitis media64 HP:0000403
46 brachydactyly syndrome64 HP:0001156
47 motor delay64 HP:0001270
48 megalencephaly64 HP:0001355
49 limited elbow extension64 HP:0001377
50 brain stem compression64 HP:0002512
51 small foramen magnum64 HP:0002677
52 generalized joint laxity64 HP:0002761
53 upper airway obstruction64 HP:0002781
54 lumbar hyperlordosis64 HP:0002938
55 flared metaphysis64 HP:0003015
56 limited hip extension64 HP:0003093
57 trident hand64 HP:0004060
58 spinal stenosis with reduced interpedicular distance64 HP:0005733
59 lumbar kyphosis in infancy64 HP:0008414
60 infantile muscular hypotonia64 HP:0008947
61 short femoral neck64 HP:0100864

MGI Mouse Phenotypes related to Achondroplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8FGFR1, FGFR2, FGFR3, MAP2K1, PTH1R, SOX9
2MP:00053778.8FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, SOX9
3MP:00028738.7FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, SOX9
4MP:00053808.7FGF3, FGFR1, FGFR2, MAP2K1, PTH1R, SOX9
5MP:00053718.5FGF3, FGFR1, FGFR2, FGFR3, NPPC, PTH1R
6MP:00053828.5FGFR1, FGFR2, FGFR3, MAP2K1, NPPC, PTH1R
7MP:00053898.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, NPPC
8MP:00053788.1FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, NPPC
9MP:00053907.3FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, NPPC

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 26
2Natriuretic AgentsPhase 21697

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With AchondroplasiaActive, not recruitingNCT02055157Phase 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 Achondroplasia27 24 FGFR3

Anatomical Context for Achondroplasia

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MalaCards organs/tissues related to Achondroplasia:

36
Bone, Brain, Lung, Spinal cord, Bone marrow, Occipital lobe, Pituitary

FMA organs/tissues related to Achondroplasia:

17
Long bone

Publications for Achondroplasia

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Articles related to Achondroplasia:

(show top 50)    (show all 613)
idTitleAuthorsYear
1
Current Care and Investigational Therapies in Achondroplasia. (28224446)
2017
2
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. (28181399)
2017
3
A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data. (28374958)
2017
4
Myxoedema in a patient with achondroplasia in rural area of Guatemala. (28280081)
2017
5
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. (28230213)
2017
6
Avascular Retinal Findings in a Child With Achondroplasia. (28297043)
2017
7
Final adult height in long-term growth hormone-treated achondroplasia patients. (28501952)
2017
8
Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature. (28497003)
2017
9
Anesthesia for Pulmonary Endarterectomy and Extracorporeal Membrane Oxygenation in a Patient With Achondroplasia. (28502457)
2017
10
The prevalence of the complications and their associated factors in humeral lengthening for achondroplasia: retrospective study of 54 cases. (28107267)
2017
11
Sleep-disordered breathing and its management in children with achondroplasia. (28239978)
2017
12
Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit. (28210519)
2017
13
Achondroplasia with Polydactyly: A Case Report. (28511523)
2017
14
Long-term follow-up of a patient with achondroplasia treated with an orthodontic approach. (28364903)
2017
15
Sleep disordered breathing in children with achondroplasia. (27830579)
2017
16
Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia. (28520086)
2017
17
Maternal administration of meclozine for the treatment of foramen magnum stenosis in transgenic mice with achondroplasia. (27767902)
2017
18
Letter to the editor: Response to two recent articles regarding achondroplasia. (26753848)
2016
19
A novel non-invasive detection method for the FGFR3 gene mutation in maternal plasma for a fetal achondroplasia diagnosis based on signal amplification by hemin-MOFs/PtNPs. (27836589)
2016
20
Functional characteristics of mesenchymal stem cells derived from the adipose tissue of a patient with achondroplasia. (27059327)
2016
21
Cognitive phenotype and language skills in children with achondroplasia. (26899672)
2016
22
Limb lengthening in achondroplasia. (27512222)
2016
23
Height Outcome of Recombinant Human Growth Hormone Treatment in Achondroplasia Children: A Meta-Analysis. (27355624)
2016
24
Multilevel thoracic ossification of the ligamentum flavum in a Hispanic woman with achondroplasia. (27140867)
2016
25
An ICF-CY-based approach to assessing self- and observer-reported functioning in young persons with achondroplasia - development of the pilot version of the Achondroplasia Personal Life Experience Scale (APLES). (27636099)
2016
26
FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset. (27370225)
2016
27
Achondroplasia. (27387628)
2016
28
Retracted: Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome. (27239358)
2016
29
Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible. (27260401)
2016
30
Effect of the achondroplasia mutation on FGFR3 dimerization and FGFR3 structural response to fgf1 and fgf2: A quantitative FRET study in osmotically derived plasma membrane vesicles. (27040652)
2016
31
Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia. (27919255)
2016
32
Prevalence of Scoliosis and Thoracolumbar Kyphosis in Patients With Achondroplasia. (27927547)
2016
33
Alternative technique in atypical spinal decompression: the use of the ultrasonic scalpel in paediatric achondroplasia. (27288205)
2016
34
The natural history of thoracolumbar kyphosis in achondroplasia. (28005181)
2016
35
Arthroscopic Treatment of Discoid Lateral Meniscus Tears in Children With Achondroplasia. (27276636)
2016
36
Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?". (26754314)
2016
37
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia. (26850935)
2016
38
Achondroplasia: Really rhizomelic? (27257098)
2016
39
Identifying spinal cord compression in achondroplasia - the role of somatosensory evoked potentials and the need for screening. (27651125)
2016
40
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. (26814021)
2016
41
The neuropsychological function of children with achondroplasia. (27605460)
2016
42
Early impairment of somatosensory evoked potentials in very young children with achondroplasia with foramen magnum stenosis. (27633930)
2016
43
Walking Out of the Curve: Thoracolumbar Kyphosis in Achondroplasia. (27636912)
2016
44
A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia. (26754866)
2016
45
C-Type Natriuretic Peptide Analog as Therapy for Achondroplasia. (26684019)
2016
46
Ventricular septal defect closure in a patient with achondroplasia. (27323297)
2016
47
Achondroplasia: Development, Pathogenesis, and Therapy. (27987249)
2016
48
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. (27506979)
2016
49
Discoid Meniscus Associated With Achondroplasia. (27135452)
2016
50
Cervicomedullary junction compression in infant with achondroplasia. (26944588)
2016

Variations for Achondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

70
id Symbol AA change Variation ID SNP ID
1FGFR3p.Gly375CysVAR_004154rs75790268
2FGFR3p.Gly380ArgVAR_004155rs28931614
3FGFR3p.Lys650MetVAR_004161rs121913105

Clinvar genetic disease variations for Achondroplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_ 000142.4(FGFR3): c.1138G> C (p.Gly380Arg)SNVPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
2FGFR3NM_ 000142.4(FGFR3): c.1123G> T (p.Gly375Cys)SNVPathogenicrs75790268GRCh37Chr 4, 1806104: 1806104
3FGFR3NM_ 001163213.1(FGFR3): c.1626C> G (p.Asn542Lys)SNVPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
4FGFR3NM_ 000142.4(FGFR3): c.1138G> A (p.Gly380Arg)SNV, HaplotypePathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
5FGFR3NM_ 000142.4(FGFR3): c.835A> T (p.Ser279Cys)SNVPathogenicrs121913114GRCh37Chr 4, 1803657: 1803657
6FGFR3NM_ 000142.4(FGFR3): c.1620C> A (p.Asn540Lys)SNV, HaplotypePathogenicrs28933068GRCh37Chr 4, 1807371: 1807371

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 32)
idSuper pathwaysScoreTop Affiliating Genes
19.5FGFR1, MAP2K1
2
Show member pathways
9.2FGFR1, FGFR2, FGFR3
39.2FGFR1, FGFR2, FGFR3
49.2FGFR1, FGFR2, FGFR3
59.1FGFR1, FGFR3, SOX9
6
Show member pathways
8.9FGF3, FGFR1, FGFR2, FGFR3
7
Show member pathways
8.9FGF3, FGFR1, FGFR2, FGFR3
8
Show member pathways
8.9FGF3, FGFR1, FGFR2, FGFR3
9
Show member pathways
8.9FGF3, FGFR1, FGFR2, FGFR3
10
Show member pathways
8.9FGF3, FGFR1, FGFR2, FGFR3
11
Show member pathways
8.9FGF3, FGFR1, FGFR2, FGFR3
12
Show member pathways
8.9FGF3, FGFR1, FGFR2, FGFR3
13
Show member pathways
8.8FGFR1, FGFR2, FGFR3, MAP2K1
148.8FGFR1, FGFR2, FGFR3, MAP2K1
158.8FGFR1, FGFR2, FGFR3, MAP2K1
16
Show member pathways
8.8FGFR1, FGFR2, FGFR3, MAP2K1
17
Show member pathways
8.8FGFR1, FGFR2, FGFR3, MAP2K1
188.8FGFR1, FGFR2, FGFR3, MAP2K1
19
Show member pathways
8.8FGFR1, FGFR2, FGFR3, MAP2K1
20
Show member pathways
8.8FGFR1, FGFR2, FGFR3, MAP2K1
218.7FGFR1, FGFR2, FGFR3, SOX9
228.5FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
23
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
248.5FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
25
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
26
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
27
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
28
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
29
Show member pathways
8.4ACAN, FGFR1, FGFR2, FGFR3, MAP2K1
308.4ACAN, FGFR1, FGFR3, PTH1R, SOX9
31
Show member pathways
7.7BMP8B, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
32
Show member pathways
7.1ACAN, BMP8B, FGFR1, FGFR2, FGFR3, MAP2K1

GO Terms for genes affiliated with Achondroplasia

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Cellular components related to Achondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055767.4ACAN, BMP8B, FGF3, FGFR1, FGFR2, FGFR3

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

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1bone morphogenesisGO:006034910.5FGFR2, FGFR3
2endochondral bone growthGO:000341610.5FGFR2, FGFR3
3cell maturationGO:004846910.4FGFR1, PTH1R
4chondrocyte developmentGO:000206310.4ACAN, SOX9
5ERK1 and ERK2 cascadeGO:007037110.3MAP2K1, SOX9
6regulation of multicellular organism growthGO:004001410.3FGFR2, NPPC
7branching involved in salivary gland morphogenesisGO:006044510.3FGFR1, FGFR2
8fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.3FGFR1, FGFR2
9epithelial to mesenchymal transitionGO:000183710.3FGFR2, SOX9
10lung-associated mesenchyme developmentGO:006048410.3FGFR1, FGFR2
11lacrimal gland developmentGO:003280810.3FGFR2, SOX9
12limb bud formationGO:006017410.3FGFR2, SOX9
13mesenchymal cell differentiationGO:004876210.3FGFR1, FGFR2
14midbrain developmentGO:003090110.3FGFR1, FGFR2
15orbitofrontal cortex developmentGO:002176910.3FGFR1, FGFR2
16otic vesicle formationGO:003091610.3FGFR2, SOX9
17positive regulation of cardiac muscle cell proliferationGO:006004510.3FGFR1, FGFR2
18positive regulation of cell cycleGO:004578710.3FGFR1, FGFR2
19prostate gland morphogenesisGO:006051210.2FGFR2, SOX9
20bone mineralizationGO:003028210.2FGFR2, FGFR3, PTH1R
21positive regulation of ERK1 and ERK2 cascadeGO:007037410.1FGFR2, FGFR3, MAP2K1
22heart developmentGO:00075079.9ACAN, MAP2K1, SOX9
23positive regulation of MAPK cascadeGO:00434109.9FGFR1, FGFR2, FGFR3
24positive regulation of phospholipase activityGO:00105189.9FGFR1, FGFR2, FGFR3
25protein autophosphorylationGO:00467779.9FGFR1, FGFR2, FGFR3
26negative regulation of gene expressionGO:00106299.8FGFR1, MAP2K1, SOX9
27positive regulation of mesenchymal cell proliferationGO:00020539.7FGFR1, FGFR2, SOX9
28fibroblast growth factor receptor signaling pathwayGO:00085439.7FGF3, FGFR1, FGFR2, FGFR3
29negative regulation of cell proliferationGO:00082859.7MAP2K1, NPPC, PTH1R, SOX9
30phosphatidylinositol phosphorylationGO:00468549.7FGF3, FGFR1, FGFR2, FGFR3
31phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.7FGF3, FGFR1, FGFR2, FGFR3
32phosphatidylinositol-mediated signalingGO:00480159.6FGF3, FGFR1, FGFR2, FGFR3
33positive regulation of GTPase activityGO:00435479.6FGF3, FGFR1, FGFR2, FGFR3
34chondrocyte differentiationGO:00020629.6FGFR1, FGFR3, PTH1R, SOX9
35ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
36regulation of phosphatidylinositol 3-kinase signalingGO:00140669.5FGF3, FGFR1, FGFR2, FGFR3
37protein phosphorylationGO:00064689.4FGFR1, FGFR2, FGFR3, MAP2K1
38MAPK cascadeGO:00001659.3FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
39ossificationGO:00015039.2BMP8B, NPPC, PTH1R, SOX9
40peptidyl-tyrosine phosphorylationGO:00181089.2FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
41positive regulation of cell proliferationGO:00082848.8FGF3, FGFR1, FGFR2, FGFR3, PTH1R, SOX9
42skeletal system developmentGO:00015017.0ACAN, BMP8B, FGFR1, FGFR3, PTH1R, SHOX

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:00171349.9FGFR1, FGFR2, FGFR3
2fibroblast growth factor-activated receptor activityGO:00050079.9FGFR1, FGFR2, FGFR3
31-phosphatidylinositol-3-kinase activityGO:00163039.6FGF3, FGFR1, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.6FGF3, FGFR1, FGFR2, FGFR3
5nucleotide bindingGO:00001669.5FGFR1, FGFR2, FGFR3, MAP2K1
6Ras guanyl-nucleotide exchange factor activityGO:00050889.4FGF3, FGFR1, FGFR2, FGFR3
7transmembrane receptor protein tyrosine kinase activityGO:00047149.2FGFR1, FGFR2, FGFR3
8protein tyrosine kinase activityGO:00047139.1FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
9protein kinase activityGO:00046728.9FGFR1, FGFR2, FGFR3, MAP2K1, SOX9

Sources for Achondroplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
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67Tumor Gene Family of Databases
68UMLS
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