MCID: ACH004
MIFTS: 66

Achondroplasia malady

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

Aliases & Classifications for Achondroplasia

About this section
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

GeneReviews:

23
Penetrance: penetrance is 100%, meaning that all individuals who have a single copy of one of the fgfr3 mutations 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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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.

MalaCards based summary: Achondroplasia, also known as achondroplastic dwarfism, is related to crouzon syndrome with acanthosis nigricans and thanatophoric dysplasia, type ii, and has symptoms including macrocephaly, anteverted nares and abnormality of the ribs. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Signal transduction by L1 and Tyrosine Kinases / Adaptors. 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.

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.

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

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

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 120)
idRelated DiseaseScoreTop Affiliating Genes
1crouzon syndrome with acanthosis nigricans28.9COMP, FGFR2, FGFR3, PTH1R
2thanatophoric dysplasia, type ii28.8FGF3, FGFR1, FGFR2, FGFR3
3hypochondroplasia28.0ACAN, BMP8B, FGF3, FGFR1, FGFR2, FGFR3
4thanatophoric dysplasia, type i27.9FGF3, FGFR1, FGFR2, FGFR3, NPPC, SHOX
5saddan12.1
6achondroplasia and severe combined immunodeficiency11.8
7achondroplasia and swiss type agammaglobulinemia11.8
8dwarfism11.3
9pseudoachondroplasia11.1
10short-limb skeletal dysplasia with severe combined immunodeficiency11.0
11chondrodysplasia punctata, rhizomelic, type 110.8
12chondrodysplasia punctata, x-linked dominant10.8
13x-linked chondrodysplasia punctata10.8
14hydrocephalus, nonsyndromic, autosomal recessive10.8
15mesomelia10.8
16epiphyseal chondrodysplasia, miura type10.4FGFR3, NPPC
17autism susceptibility, x-linked 210.4FGFR3, SHOX
18slc40a1-related hereditary hemochromatosis10.3ACAN, FGFR3
19neuropathy, distal hereditary motor, type iia10.3COMP, FGFR3
20osteopetrosis and infantile neuroaxonal dystrophy10.3FGFR1, FGFR3
21toenail dystrophy, isolated10.3FGFR3, PTH1R
22mite infestation10.3FGFR2, FGFR3
23atrioventricular septal defect10.2COMP, FGFR3
24cerebral hemorrhage10.2ACAN, COMP
25apert syndrome10.2FGFR2, FGFR3
26smed strudwick type10.2ACAN, COMP
27charcot-marie-tooth disease type 510.2FGFR3, NPPC, SHOX
28accommodative esotropia10.2FGFR2, FGFR3
29acromesomelic dysplasia10.2ACAN, COMP
30sweat gland cancer10.2ACAN, COMP
31retroperitoneal germ cell neoplasm10.1ACAN, PTH1R
32glaucomatocyclitic crisis10.1FGFR2, FGFR3
33pfn1-related amyotrophic lateral sclerosis10.1FGFR1, FGFR2
34uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis10.1FGFR1, FGFR2
35scleredema adultorum10.0FGFR2, FGFR3
36cervicitis10.0
37spinal stenosis10.0
38sleep apnea10.0
39sleep disorder10.0
40benign fibrous mesothelioma10.0PTH1R, SOX9
41obstructive sleep apnea10.0
42hydrocephalus9.9
43acanthosis nigricans9.9
44flnb-related disorders9.9FGFR1, FGFR2, FGFR3
45plasmalogens synthesis deficiency isolated9.9FGFR1, FGFR2, FGFR3
46trigonocephaly 19.9FGFR1, FGFR2, FGFR3
47skeletal dysplasias9.9
48skeletal dysplasia9.9
49bladder cancer, somatic9.9FGFR1, FGFR2, FGFR3
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:

 64 54 (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000256
2 anteverted nares64 54 hallmark (90%) Very frequent (99-80%) HP:0000463
3 abnormality of the ribs64 54 hallmark (90%) Very frequent (99-80%) HP:0000772
4 abnormality of the metaphyses64 54 hallmark (90%) Very frequent (99-80%) HP:0000944
5 brachydactyly syndrome64 hallmark (90%) HP:0001156
6 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
7 skeletal dysplasia64 hallmark (90%) HP:0002652
8 genu varum64 54 hallmark (90%) Very frequent (99-80%) HP:0002970
9 hyperlordosis64 54 hallmark (90%) Very frequent (99-80%) HP:0003307
10 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
11 limb undergrowth64 hallmark (90%) HP:0009826
12 abnormality of the teeth64 typical (50%) HP:0000164
13 malar flattening64 typical (50%) HP:0000272
14 conductive hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000405
15 narrow chest64 54 typical (50%) Frequent (79-30%) HP:0000774
16 hyperhidrosis64 54 typical (50%) Frequent (79-30%) HP:0000975
17 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
18 joint hypermobility64 typical (50%) HP:0001382
19 intrauterine growth retardation64 54 typical (50%) Frequent (79-30%) HP:0001511
20 obesity64 54 typical (50%) Frequent (79-30%) HP:0001513
21 apnea64 54 typical (50%) Frequent (79-30%) HP:0002104
22 ventriculomegaly64 54 typical (50%) Frequent (79-30%) HP:0002119
23 kyphosis64 54 typical (50%) Frequent (79-30%) HP:0002808
24 abnormal form of the vertebral bodies64 54 typical (50%) Frequent (79-30%) HP:0003312
25 long thorax64 54 typical (50%) Frequent (79-30%) HP:0100818
26 hydrocephalus64 54 occasional (7.5%) Occasional (29-5%) HP:0000238
27 acanthosis nigricans64 54 occasional (7.5%) Occasional (29-5%) HP:0000956
28 sudden cardiac death64 54 occasional (7.5%) Occasional (29-5%) HP:0001645
29 neurological speech impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0002167
30 elbow dislocation64 54 occasional (7.5%) Occasional (29-5%) HP:0003042
31 spinal canal stenosis64 54 occasional (7.5%) Occasional (29-5%) HP:0003416
32 recurrent otitis media64 HP:0000403
33 motor delay64 HP:0001270
34 megalencephaly64 HP:0001355
35 limited elbow extension64 HP:0001377
36 brain stem compression64 HP:0002512
37 small foramen magnum64 HP:0002677
38 generalized joint laxity64 HP:0002761
39 upper airway obstruction64 HP:0002781
40 lumbar hyperlordosis64 HP:0002938
41 flared metaphysis64 HP:0003015
42 limited hip extension64 HP:0003093
43 trident hand64 HP:0004060
44 spinal stenosis with reduced interpedicular distance64 HP:0005733
45 lumbar kyphosis in infancy64 HP:0008414
46 rhizomelia64 54 Very frequent (99-80%) HP:0008905
47 neonatal short-limb short stature64 54 Very frequent (99-80%) HP:0008921
48 infantile muscular hypotonia64 HP:0008947
49 midface retrusion64 54 Frequent (79-30%) HP:0011800
50 short femoral neck64 HP:0100864
51 chronic otitis media54 Very frequent (99-80%)
52 dental crowding54 Frequent (79-30%)
53 dental malocclusion54 Frequent (79-30%)
54 dysarthria54 Occasional (29-5%)
55 joint stiffness54 Occasional (29-5%)
56 death in infancy54 Occasional (29-5%)
57 wormian bones54 Very frequent (99-80%)
58 abnormality of the ilium54 Frequent (79-30%)
59 obstructive sleep apnea54 Frequent (79-30%)
60 diaphyseal thickening54 Frequent (79-30%)
61 joint hyperflexibility54 Frequent (79-30%)
62 bowing of the long bones54 Frequent (79-30%)
63 narrow sacroiliac notch54 Frequent (79-30%)
64 disproportionate short-limb short stature54 Very frequent (99-80%)
65 abnormality of the elbow54 Frequent (79-30%)

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:00053808.8FGF3, FGFR1, FGFR2, MAP2K1, PTH1R, SOX9
4MP:00053828.5FGFR1, FGFR2, FGFR3, MAP2K1, NPPC, PTH1R
5MP:00053898.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, NPPC
6MP:00028737.9COMP, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
7MP:00053717.7COMP, FGF3, FGFR1, FGFR2, FGFR3, NPPC
8MP:00053787.4COMP, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
9MP:00053906.6COMP, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1

Drugs & Therapeutics for Achondroplasia

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Drugs for Achondroplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Natriuretic Peptide, C-TypePhase 25
2Natriuretic AgentsPhase 21645

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With AchondroplasiaEnrolling by invitationNCT02055157Phase 2
2A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH)Enrolling by invitationNCT02724228Phase 2
3A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult VolunteersCompletedNCT01590446Phase 1
4C-Type Natriuretic Peptide and AchondroplasiaCompletedNCT01541306
5Issues Surrounding Prenatal Genetic Testing for AchondroplasiaCompletedNCT00001536
6A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With SomatropinCompletedNCT01435629
7Special Survey for Long Term ApplicationCompletedNCT01516229
8Simultaneous Lengthening of Bilateral Femora and Tibiae in Achondroplastic PatientsCompletedNCT01328418
9Study of Skeletal Disorders and Short StatureCompletedNCT00001754
10A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With AchondroplasiaRecruitingNCT01603095
11Achondroplasia Natural History Multicenter Clinical StudyEnrolling by invitationNCT02597881

Search NIH Clinical Center for Achondroplasia


Cochrane evidence based reviews: achondroplasia

Genetic Tests for Achondroplasia

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Genetic tests related to Achondroplasia:

id Genetic test Affiliating Genes
1 Achondroplasia27 24 FGFR3

Anatomical Context for Achondroplasia

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MalaCards organs/tissues related to Achondroplasia:

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

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 598)
idTitleAuthorsYear
1
Maternal administration of meclozine for the treatment of foramen magnum stenosis in transgenic mice with achondroplasia. (27767902)
2017
2
Sleep disordered breathing in children with achondroplasia. (27830579)
2017
3
Early impairment of somatosensory evoked potentials in very young children with achondroplasia with foramen magnum stenosis. (27633930)
2016
4
Cervicomedullary junction compression in infant with achondroplasia. (26944588)
2016
5
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
6
Alternative technique in atypical spinal decompression: the use of the ultrasonic scalpel in paediatric achondroplasia. (27288205)
2016
7
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. (26814021)
2016
8
Discoid Meniscus Associated With Achondroplasia. (27135452)
2016
9
Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible. (27260401)
2016
10
Achondroplasia: Development, Pathogenesis, and Therapy. (27987249)
2016
11
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
12
Functional characteristics of mesenchymal stem cells derived from the adipose tissue of a patient with achondroplasia. (27059327)
2016
13
Favorable Growth Hormone Treatment Response in a Young Boy with Achondroplasia. (27147792)
2016
14
A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia. (26754866)
2016
15
Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia. (27919255)
2016
16
Multilevel thoracic ossification of the ligamentum flavum in a Hispanic woman with achondroplasia. (27140867)
2016
17
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
18
Walking Out of the Curve: Thoracolumbar Kyphosis in Achondroplasia. (27636912)
2016
19
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
20
Retracted: Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome. (27239358)
2016
21
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. (27506979)
2016
22
Prevalence of Scoliosis and Thoracolumbar Kyphosis in Patients With Achondroplasia. (27927547)
2016
23
Identifying spinal cord compression in achondroplasia - the role of somatosensory evoked potentials and the need for screening. (27651125)
2016
24
Cognitive phenotype and language skills in children with achondroplasia. (26899672)
2016
25
FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset. (27370225)
2016
26
Height Outcome of Recombinant Human Growth Hormone Treatment in Achondroplasia Children: A Meta-Analysis. (27355624)
2016
27
Achondroplasia: Really rhizomelic? (27257098)
2016
28
Achondroplasia. (27387628)
2016
29
Limb lengthening in achondroplasia. (27512222)
2016
30
Ventricular septal defect closure in a patient with achondroplasia. (27323297)
2016
31
C-Type Natriuretic Peptide Analog as Therapy for Achondroplasia. (26684019)
2016
32
Letter to the editor: Response to two recent articles regarding achondroplasia. (26753848)
2016
33
The neuropsychological function of children with achondroplasia. (27605460)
2016
34
The natural history of thoracolumbar kyphosis in achondroplasia. (28005181)
2016
35
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
36
Arthroscopic Treatment of Discoid Lateral Meniscus Tears in Children With Achondroplasia. (27276636)
2016
37
Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report. (26136890)
2015
38
Bilateral humeral lengthening in achondroplasia with unilateral external fixators: is it safe and does it improve daily life? (26530664)
2015
39
Low bone mineral density in achondroplasia and hypochondroplasia. (26716907)
2015
40
Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings. (26041006)
2015
41
Achondroplasia and limb lengthening: Results in a UK cohort and review of the literature. (25829758)
2015
42
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. (25728633)
2015
43
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? (25691418)
2015
44
Achondroplasia: Current Options and Future Perspective. (26182483)
2015
45
Surgical treatment for cervicomedullary compression among infants with achondroplasia. (25686888)
2015
46
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. (26394886)
2015
47
Achondroplasia and multiple-suture craniosynostosis. (25502720)
2015
48
Prenatal diagnosis of concurrent achondroplasia and klinefelter syndrome. (25789188)
2015
49
Advances in treatment of achondroplasia and osteoarthritis. (26443596)
2015
50
Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia. (26770560)
2015

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 28)
idSuper pathwaysScoreTop Affiliating Genes
19.6FGFR1, MAP2K1
29.3FGFR1, FGFR2, FGFR3
3
Show member pathways
9.3FGFR1, FGFR2, FGFR3
49.3FGFR1, FGFR2, FGFR3
59.1FGFR1, FGFR3, SOX9
6
Show member pathways
9.0FGF3, FGFR1, FGFR2, FGFR3
7
Show member pathways
9.0FGF3, FGFR1, FGFR2, FGFR3
8
Show member pathways
9.0FGF3, FGFR1, FGFR2, FGFR3
99.0FGF3, FGFR1, FGFR2, FGFR3
108.9FGFR1, FGFR2, FGFR3, MAP2K1
11
Show member pathways
8.9FGFR1, FGFR2, FGFR3, MAP2K1
12
Show member pathways
8.9FGFR1, FGFR2, FGFR3, MAP2K1
138.9FGFR1, FGFR2, FGFR3, MAP2K1
148.9FGFR1, FGFR2, FGFR3, MAP2K1
15
Show member pathways
8.9FGFR1, FGFR2, FGFR3, MAP2K1
16
Show member pathways
8.9FGF3, FGFR1, FGFR2, MAP2K1
178.7FGFR1, FGFR2, FGFR3, SOX9
188.6FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
19
Show member pathways
8.6FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
20
Show member pathways
8.6FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
21
Show member pathways
8.6FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
228.6FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
238.6FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
24
Show member pathways
8.6ACAN, FGFR1, FGFR2, FGFR3, MAP2K1
258.4ACAN, FGFR1, FGFR3, PTH1R, SOX9
26
Show member pathways
8.4BMP8B, FGFR1, FGFR2, FGFR3, MAP2K1
27
Show member pathways
8.1BMP8B, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
287.8COMP, FGF3, 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:00055767.5ACAN, COMP, FGF3, FGFR1, FGFR2, FGFR3

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1bone morphogenesisGO:006034910.6FGFR2, FGFR3
2cell maturationGO:004846910.4FGFR1, PTH1R
3regulation of multicellular organism growthGO:004001410.4FGFR2, NPPC
4branching involved in salivary gland morphogenesisGO:006044510.3FGFR1, FGFR2
5fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.3FGFR1, FGFR2
6lung-associated mesenchyme developmentGO:006048410.3FGFR1, FGFR2
7mesenchymal cell differentiationGO:004876210.3FGFR1, FGFR2
8midbrain developmentGO:003090110.3FGFR1, FGFR2
9orbitofrontal cortex developmentGO:002176910.3FGFR1, FGFR2
10chondrocyte developmentGO:000206310.3ACAN, SOX9
11positive regulation of cardiac muscle cell proliferationGO:006004510.3FGFR1, FGFR2
12positive regulation of cell cycleGO:004578710.3FGFR1, FGFR2
13bone mineralizationGO:003028210.3FGFR2, FGFR3, PTH1R
14ERK1 and ERK2 cascadeGO:007037110.3MAP2K1, SOX9
15epithelial to mesenchymal transitionGO:000183710.2FGFR2, SOX9
16lacrimal gland developmentGO:003280810.2FGFR2, SOX9
17limb bud formationGO:006017410.2FGFR2, SOX9
18otic vesicle formationGO:003091610.2FGFR2, SOX9
19positive regulation of ERK1 and ERK2 cascadeGO:007037410.1FGFR2, FGFR3, MAP2K1
20prostate gland morphogenesisGO:006051210.1FGFR2, SOX9
21positive regulation of MAPK cascadeGO:00434109.9FGFR1, FGFR2, FGFR3
22positive regulation of phospholipase activityGO:00105189.9FGFR1, FGFR2, FGFR3
23protein autophosphorylationGO:00467779.9FGFR1, FGFR2, FGFR3
24fibroblast growth factor receptor signaling pathwayGO:00085439.7FGF3, FGFR1, FGFR2, FGFR3
25phosphatidylinositol phosphorylationGO:00468549.7FGF3, FGFR1, FGFR2, FGFR3
26phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.7FGF3, FGFR1, FGFR2, FGFR3
27phosphatidylinositol-mediated signalingGO:00480159.7FGF3, FGFR1, FGFR2, FGFR3
28negative regulation of gene expressionGO:00106299.7FGFR1, MAP2K1, SOX9
29positive regulation of GTPase activityGO:00435479.6FGF3, FGFR1, FGFR2, FGFR3
30negative regulation of cell proliferationGO:00082859.6MAP2K1, NPPC, PTH1R, SOX9
31positive regulation of mesenchymal cell proliferationGO:00020539.6FGFR1, FGFR2, SOX9
32ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
33regulation of phosphatidylinositol 3-kinase signalingGO:00140669.5FGF3, FGFR1, FGFR2, FGFR3
34chondrocyte differentiationGO:00020629.5FGFR1, FGFR3, PTH1R, SOX9
35ossificationGO:00015039.5BMP8B, NPPC, PTH1R, SOX9
36extracellular matrix organizationGO:00301989.5ACAN, COMP, SOX9
37MAPK cascadeGO:00001659.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
38peptidyl-tyrosine phosphorylationGO:00181089.3FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
39positive regulation of cell proliferationGO:00082848.8FGF3, FGFR1, FGFR2, FGFR3, PTH1R, SOX9
40skeletal system developmentGO:00015016.6ACAN, BMP8B, COMP, FGFR1, FGFR3, PTH1R

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

(show all 7)
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
5heparin bindingGO:00082019.3COMP, FGFR1, FGFR2
6protein tyrosine kinase activityGO:00047139.1FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
7Ras guanyl-nucleotide exchange factor activityGO:00050889.0FGF3, FGFR1, FGFR2, FGFR3

Sources for Achondroplasia

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2CDC
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