MCID: ACH004
MIFTS: 64

Achondroplasia malady

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

Aliases & Classifications for Achondroplasia

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Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Achondroplasia:

Name: Achondroplasia 50 11 69 22 46 23 24 13 52 68 25 12 48 37 66
Achondroplastic Dwarfism 46 24 66
Ach 46 24 68
Achondroplastic Physique 11
 
Osteosclerosis Congenita 11
Dwarf, Achondroplastic 24
Chondrodystrophia 11

Characteristics:

Orphanet epidemiological data:

52
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:

62
achondroplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 100800
Disease Ontology11 DOID:4480
ICD1028 Q77.4
MeSH37 D000130
NCIt43 C34345
Orphanet52 ORPHA15
UMLS via Orphanet67 C0001080
ICD10 via Orphanet29 Q77.4
MESH via Orphanet38 D000130
MedGen35 C0001080

Summaries for Achondroplasia

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NIH Rare Diseases:46 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 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 Bladder cancer and Signal transduction by L1. Affiliated tissues include long bone, bone and brain, and related mouse phenotypes are hearing/vestibular/ear and embryo.

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:68 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.

Genetics Home Reference:24 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:50 Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by... (100800) more...

Wikipedia:69 Achondroplasia is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 80% of... more...

GeneReviews summary 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 121)
idRelated DiseaseScoreTop Affiliating Genes
1crouzon syndrome with acanthosis nigricans29.2FGFR2, FGFR3, PTH1R
2thanatophoric dysplasia, type ii28.3FGF3, FGFR1, FGFR2, FGFR3
3thanatophoric dysplasia, type i27.2FGF3, FGFR1, FGFR2, FGFR3, NPPC, SHOX
4hypochondroplasia26.4ACAN, BMP8B, FGF3, FGFR1, FGFR2, FGFR3
5achondroplasia and severe combined immunodeficiency12.1
6saddan12.0
7achondroplasia and swiss type agammaglobulinemia12.0
8short-limb skeletal dysplasia with severe combined immunodeficiency11.2
9chondrodysplasia punctata, rhizomelic, type 111.1
10chondrodysplasia punctata, x-linked dominant10.9
11x-linked chondrodysplasia punctata10.9
12dwarfism10.8
13epiphyseal chondrodysplasia, miura type10.5FGFR3, NPPC
14pseudoachondroplasia10.4
15autism susceptibility, x-linked 210.4FGFR3, SHOX
16slc40a1-related hereditary hemochromatosis10.4ACAN, FGFR3
17osteopetrosis and infantile neuroaxonal dystrophy10.2FGFR1, FGFR3
18toenail dystrophy, isolated10.2FGFR3, PTH1R
19charcot-marie-tooth disease type 510.2FGFR3, NPPC, SHOX
20bone structure disease10.2ACAN, SOX9
21osteopathia striata with pigmentary dermopathy including white forelock10.2FGFR3, NPPC, PTH1R
22spinal stenosis10.1
23sleep apnea10.1
24cervicitis10.1
25benign fibrous mesothelioma10.1PTH1R, SOX9
26dengue hemorrhagic fever10.1ACAN, SOX9
27obstructive sleep apnea10.1
28sleep disorder10.1
29mite infestation10.1FGFR2, FGFR3
30apert syndrome10.1FGFR2, FGFR3
31hydrocephalus10.1
32acanthosis nigricans10.1
33grade iii astrocytoma10.1FGFR1, FGFR3
34accommodative esotropia10.1FGFR2, FGFR3
35skeletal dysplasias10.0
36skeletal dysplasia10.0
37retroperitoneal germ cell neoplasm10.0ACAN, PTH1R
38glaucomatocyclitic crisis10.0FGFR2, FGFR3
39down syndrome10.0
40chromosomal disease10.0ACAN, SOX9
41scleredema adultorum9.9FGFR2, FGFR3
42pulmonary hypertension9.9
43craniosynostosis9.9
44mild phosphoribosylpyrophosphate synthetase superactivity9.9FGFR3, PTH1R, SOX9
45vulvovaginal candidiasis9.9FGFR3, PTH1R, SOX9
46osteopetrosis9.9
47synostosis9.9
48neurofibromatosis9.9
49hydrocephalus, nonsyndromic, autosomal recessive9.9
50mesomelia9.9

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to achondroplasia

Symptoms for Achondroplasia

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Symptoms by clinical synopsis from OMIM:

100800

Clinical features from OMIM:

100800

Symptoms:

 52 (show all 43)
  • hydrocephalus
  • macrocephaly
  • chronic otitis media
  • conductive hearing impairment
  • anteverted nares
  • dental crowding
  • dental malocclusion
  • abnormality of the ribs
  • narrow chest
  • abnormality of the metaphyses
  • acanthosis nigricans
  • hyperhidrosis
  • muscular hypotonia
  • dysarthria
  • joint stiffness
  • intrauterine growth retardation
  • obesity
  • death in infancy
  • sudden cardiac death
  • frontal bossing
  • apnea
  • ventriculomegaly
  • neurological speech impairment
  • wormian bones
  • kyphosis
  • abnormality of the ilium
  • obstructive sleep apnea
  • genu varum
  • elbow dislocation
  • hyperlordosis
  • abnormal form of the vertebral bodies
  • spinal canal stenosis
  • diaphyseal thickening
  • depressed nasal bridge
  • joint hyperflexibility
  • bowing of the long bones
  • narrow sacroiliac notch
  • disproportionate short-limb short stature
  • rhizomelia
  • neonatal short-limb short stature
  • abnormality of the elbow
  • midface retrusion
  • long thorax

HPO human phenotypes related to Achondroplasia:

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

Drugs & Therapeutics for Achondroplasia

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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 Achondroplasia25 23 FGFR3

Anatomical Context for Achondroplasia

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MalaCards organs/tissues related to Achondroplasia:

34
Bone, Brain, Testes, Lung, Spinal cord, Bone marrow, Occipital lobe

FMA organs/tissues related to Achondroplasia:

17
Long bone

Animal Models for Achondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Achondroplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.2FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, SOX9
2MP:00053807.9FGF3, FGFR1, FGFR2, MAP2K1, PTH1R, SOX9
3MP:00053817.9FGFR1, FGFR2, FGFR3, MAP2K1, PTH1R, SOX9
4MP:00053827.9FGFR1, FGFR2, FGFR3, MAP2K1, NPPC, PTH1R
5MP:00028737.9FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, SOX9
6MP:00053897.8FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, NPPC
7MP:00053717.3FGF3, FGFR1, FGFR2, FGFR3, NPPC, PTH1R
8MP:00053907.2FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, NPPC
9MP:00053787.1FGF3, FGFR1, FGFR2, FGFR3, MAP2K1, NPPC

Publications for Achondroplasia

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Articles related to Achondroplasia:

(show top 50)    (show all 591)
idTitleAuthorsYear
1
Early impairment of somatosensory evoked potentials in very young children with achondroplasia with foramen magnum stenosis. (27633930)
2016
2
Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report. (26136890)
2015
3
Bilateral humeral lengthening in achondroplasia with unilateral external fixators: is it safe and does it improve daily life? (26530664)
2015
4
Acute paraparesis as consequence of lumbar bending in achondroplasia. (23842926)
2014
5
Low bone density in achondroplasia. (24664201)
2014
6
Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. (25249421)
2014
7
Respiratory difficulties and breathing disorders in achondroplasia. (23523391)
2013
8
Bilateral ossiculoplasty in 1 case of achondroplasia. (24653923)
2013
9
The prevalence of thoracolumbar kyphosis in achondroplasia: a systematic review. (22442656)
2012
10
Growth references for height, weight, and head circumference for Argentine children with achondroplasia. (20938683)
2011
11
Surgical management of pelvic organ prolapse in a woman with achondroplasia. (20664444)
2010
12
Achondroplasia. (18328977)
2008
13
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. (18266238)
2008
14
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. (17154237)
2007
15
Laminectomies and achondroplasia: does body mass index influence surgical outcomes? (17431909)
2007
16
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
17
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. (16411219)
2006
18
Dynamic lower extremity alignment in children with achondroplasia. (16791073)
2006
19
Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia. (16434832)
2006
20
The achondroplasia mutation does not alter the dimerization energetics of the fibroblast growth factor receptor 3 transmembrane domain. (16634636)
2006
21
An unusual presentation of achondroplasia. Case report. (16370285)
2005
22
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
23
Survey of the present status of sleep-disordered breathing in children with achondroplasia Part I. A questionnaire survey. (15763281)
2005
24
Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial. (16299871)
2005
25
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. (15517832)
2004
26
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. (12816345)
2003
27
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. (12921294)
2003
28
Anaesthetic management of a patient with achondroplasia. (12846715)
2003
29
Molecular basis for the treatment of achondroplasia. (14671399)
2003
30
Deformities of the elbow in achondroplasia. (12188484)
2002
31
Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. (10932008)
2000
32
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia. (11059551)
2000
33
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. (10696568)
2000
34
Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia. (10759489)
2000
35
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. (10200283)
1999
36
Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. (10592476)
1999
37
Genotype phenotype correlation in achondroplasia and hypochondroplasia. (9853502)
1998
38
Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets. (9115628)
1996
39
Sleep and upper airway obstruction in children with achondroplasia. (8917243)
1996
40
Achondroplasia with XXY karyotype. (8062443)
1994
41
Cognitive skills in achondroplasia. (8267016)
1993
42
Achondroplasia: unusual bone abnormalities of the cervical spine. (1635629)
1992
43
Growth hormone therapy in achondroplasia. (1632435)
1992
44
Radiographic features of the bones of the hand and wrist in achondroplasia: report of case. (1939806)
1991
45
Kyphosis and lumbar stenosis in achondroplasia. (3240265)
1988
46
The unreliability of metacarpo-phalangeal profile (MPP) in the diagnosis of achondroplasia. (3240251)
1988
47
Metacarpophalangeal relations in 21 Danish patients with achondroplasia. (3342645)
1988
48
Nonrandom association of a type II procollagen genotype with achondroplasia. (2991928)
1985
49
Achondroplasia and obstructive sleep apnea: correction of apnea and abnormal sleep-entrained growth hormone release by tracheostomy. (4041579)
1985
50
Long-term neurological sequelae in achondroplasia. (6510432)
1984

Variations for Achondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

68
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> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
2FGFR3NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
3FGFR3NM_000142.4(FGFR3): c.1123G> T (p.Gly375Cys)single nucleotide variantPathogenicrs75790268GRCh37Chr 4, 1806104: 1806104
4FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
5FGFR3NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys)single nucleotide variantPathogenicrs121913114GRCh37Chr 4, 1803657: 1803657

Expression for genes affiliated with Achondroplasia

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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 33)
idSuper pathwaysScoreTop Affiliating Genes
19.8FGFR3, MAP2K1
29.4FGFR1, MAP2K1
39.1FGFR1, FGFR2, FGFR3
4
Show member pathways
9.1FGFR1, FGFR2, FGFR3
59.1FGFR1, FGFR2, FGFR3
69.0FGFR1, FGFR3, SOX9
7
Show member pathways
8.8FGF3, FGFR1, FGFR2, FGFR3
8
Show member pathways
8.8FGF3, FGFR1, FGFR2, FGFR3
98.8FGF3, FGFR1, FGFR2, FGFR3
10
Show member pathways
8.8FGF3, FGFR1, FGFR2, FGFR3
11
Show member pathways
8.8FGF3, FGFR1, FGFR2, FGFR3
12
Show member pathways
8.7FGFR1, FGFR2, FGFR3, MAP2K1
138.7FGFR1, FGFR2, FGFR3, MAP2K1
148.7FGFR1, FGFR2, FGFR3, MAP2K1
15
Show member pathways
8.7FGFR1, FGFR2, FGFR3, MAP2K1
168.7FGFR1, FGFR2, FGFR3, MAP2K1
17
Show member pathways
8.7FGFR1, FGFR2, FGFR3, MAP2K1
18
Show member pathways
8.7FGFR1, FGFR2, FGFR3, MAP2K1
19
Show member pathways
8.7FGF3, FGFR1, FGFR2, MAP2K1
208.6FGFR1, FGFR2, FGFR3, SOX9
218.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
228.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
238.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
248.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
25
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
26
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
27
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
28
Show member pathways
8.3ACAN, FGFR1, FGFR2, FGFR3, MAP2K1
298.3ACAN, FGFR1, FGFR3, PTH1R, SOX9
30
Show member pathways
8.0ACAN, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
31
Show member pathways
7.9BMP8B, FGFR1, FGFR2, FGFR3, MAP2K1
32
Show member pathways
7.6BMP8B, FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
33
Show member pathways
7.0ACAN, 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:00055768.1ACAN, FGF3, FGFR1, FGFR2, FGFR3, NPPC

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1lacrimal gland developmentGO:003280810.2FGFR2, SOX9
2chondrocyte developmentGO:000206310.2ACAN, SOX9
3prostate gland morphogenesisGO:006051210.2FGFR2, SOX9
4fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.1FGFR1, FGFR2
5otic vesicle formationGO:003091610.1FGFR2, SOX9
6ERK1 and ERK2 cascadeGO:007037110.1MAP2K1, SOX9
7limb bud formationGO:006017410.1FGFR2, SOX9
8bone morphogenesisGO:006034910.1FGFR2, FGFR3
9mesenchymal cell differentiationGO:004876210.0FGFR1, FGFR2
10cell maturationGO:004846910.0FGFR1, PTH1R
11epithelial to mesenchymal transitionGO:000183710.0FGFR2, SOX9
12positive regulation of cardiac muscle cell proliferationGO:006004510.0FGFR1, FGFR2
13positive regulation of cell cycleGO:004578710.0FGFR1, FGFR2
14branching involved in salivary gland morphogenesisGO:00604459.9FGFR1, FGFR2
15ventricular zone neuroblast divisionGO:00218479.9FGFR1, FGFR2
16midbrain developmentGO:00309019.8FGFR1, FGFR2
17bone mineralizationGO:00302829.8FGFR2, FGFR3, PTH1R
18positive regulation of phospholipase activityGO:00105189.7FGFR1, FGFR2, FGFR3
19protein autophosphorylationGO:00467779.6FGFR1, FGFR2, FGFR3
20lung-associated mesenchyme developmentGO:00604849.6FGFR1, FGFR2
21positive regulation of MAPK cascadeGO:00434109.5FGFR1, FGFR2, FGFR3
22phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.5FGF3, FGFR1, FGFR2, FGFR3
23regulation of multicellular organism growthGO:00400149.4FGFR2, NPPC
24phosphatidylinositol phosphorylationGO:00468549.4FGF3, FGFR1, FGFR2, FGFR3
25positive regulation of mesenchymal cell proliferationGO:00020539.4FGFR1, FGFR2, SOX9
26regulation of phosphatidylinositol 3-kinase signalingGO:00140669.4FGF3, FGFR1, FGFR2, FGFR3
27orbitofrontal cortex developmentGO:00217699.4FGFR1, FGFR2
28phosphatidylinositol-mediated signalingGO:00480159.4FGF3, FGFR1, FGFR2, FGFR3
29fibroblast growth factor receptor signaling pathwayGO:00085439.3FGF3, FGFR1, FGFR2, FGFR3
30negative regulation of gene expressionGO:00106299.3FGFR1, MAP2K1, SOX9
31positive regulation of ERK1 and ERK2 cascadeGO:00703749.2FGFR2, FGFR3, MAP2K1
32chondrocyte differentiationGO:00020629.2FGFR1, FGFR3, PTH1R, SOX9
33negative regulation of cell proliferationGO:00082859.0MAP2K1, NPPC, PTH1R, SOX9
34positive regulation of GTPase activityGO:00435478.9FGF3, FGFR1, FGFR2, FGFR3
35peptidyl-tyrosine phosphorylationGO:00181088.8FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
36ossificationGO:00015038.8BMP8B, NPPC, PTH1R, SOX9
37MAPK cascadeGO:00001658.8FGF3, FGFR1, FGFR2, FGFR3, MAP2K1
38positive regulation of cell proliferationGO:00082847.9FGF3, FGFR1, FGFR2, FGFR3, PTH1R, SOX9
39skeletal system developmentGO:00015017.3ACAN, BMP8B, FGFR1, FGFR3, PTH1R, SHOX

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.7FGFR1, FGFR2, FGFR3
21-phosphatidylinositol-3-kinase activityGO:00163039.2FGF3, FGFR1, FGFR2, FGFR3
3fibroblast growth factor bindingGO:00171349.2FGFR1, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.1FGF3, FGFR1, FGFR2, FGFR3
5Ras guanyl-nucleotide exchange factor activityGO:00050888.8FGF3, FGFR1, FGFR2, FGFR3
6protein tyrosine kinase activityGO:00047138.1FGF3, FGFR1, FGFR2, FGFR3, MAP2K1

Sources for Achondroplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
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28ICD10
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65Tumor Gene Family of Databases
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