ACH
MCID: ACH004
MIFTS: 66

Achondroplasia (ACH) malady

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

Aliases & Classifications for Achondroplasia

Aliases & Descriptions for Achondroplasia:

Name: Achondroplasia 54 12 71 23 50 24 25 56 66 29 13 52 42 14 69
Achondroplastic Dwarfism 50 25 69
Ach 50 25 66
Achondroplastic Physique 12
Osteosclerosis Congenita 12
Dwarf, Achondroplastic 25
Chondrodystrophia 12

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
achondroplasia:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance


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:

OMIM 54 100800
Disease Ontology 12 DOID:4480
ICD10 33 Q77.4
MeSH 42 D000130
NCIt 47 C34345
Orphanet 56 ORPHA15
UMLS via Orphanet 70 C0001080
MESH via Orphanet 43 D000130
ICD10 via Orphanet 34 Q77.4
MedGen 40 C0001080
UMLS 69 C0001080

Summaries for Achondroplasia

NIH Rare Diseases : 50 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 joint stiffness, macrocephaly and obesity. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. The drugs Natriuretic Agents and Natriuretic Peptide, C-Type have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and lung, and related phenotypes are craniofacial and growth/size/body region

Disease Ontology : 12 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 : 54 Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by... (100800) more...

UniProtKB/Swiss-Prot : 66 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: NBK1152

Related Diseases for Achondroplasia

Diseases related to Achondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 114)
id Related Disease Score Top Affiliating Genes
1 saddan 32.8 FGF3 FGFR1 FGFR2 FGFR3
2 crouzon syndrome with acanthosis nigricans 28.7 FGF3 FGFR1 FGFR2 FGFR3 NPPC SHOX
3 thanatophoric dysplasia, type i 27.1 ACAN BMP8B FGF3 FGFR1 FGFR2 FGFR3
4 achondroplasia and severe combined immunodeficiency 12.1
5 achondroplasia and swiss type agammaglobulinemia 11.8
6 hypochondroplasia 11.6
7 dwarfism 11.3
8 pseudoachondroplasia 11.1
9 short-limb skeletal dysplasia with severe combined immunodeficiency 11.0
10 chondrodysplasia punctata, rhizomelic, type 1 10.8
11 chondrodysplasia punctata, x-linked dominant 10.8
12 x-linked chondrodysplasia punctata 10.8
13 mesomelia 10.8
14 hydrocephalus, nonsyndromic, autosomal recessive 10.8
15 combined oxidative phosphorylation deficiency 2 10.1 ACAN FGFR3
16 short stature with nonspecific skeletal abnormalities 10.1 FGFR3 NPPC
17 autism susceptibility, x-linked 2 10.1 FGFR3 SHOX
18 13q12.3 microdeletion syndrome 10.1 FGFR3 PTH1R SOX9
19 vulvovaginitis 10.0 FGFR3 PTH1R SOX9
20 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.0 FGFR2 FGFR3
21 cervicitis 10.0
22 sleep disorder 10.0
23 cervical spinal canal and spinal cord meningioma 10.0 FGFR2 FGFR3
24 t cell immunodeficiency primary 10.0 FGFR1 FGFR3 SOX9
25 pkp1-related ectodermal dysplasia/skin fragility syndrome 10.0 FGFR1 FGFR2
26 spinal stenosis 10.0
27 sleep apnea 10.0
28 breast intracanalicular fibroadenoma 10.0 FGFR1 PTH1R SOX9
29 pitx3-related anterior segment mesenchymal dysgenesis 10.0 FGFR1 FGFR2
30 acanthosis nigricans 10.0
31 obstructive sleep apnea 10.0
32 aica-ribosiduria due to atic deficiency 10.0 FGFR2 FGFR3
33 slti salem syndrome 9.9 FGFR3 NPPC PTH1R SOX9
34 muenke syndrome 9.9 FGFR2 FGFR3 PTH1R
35 hydrocephalus 9.9
36 skeletal dysplasias 9.9
37 skeletal dysplasia 9.9
38 acrofacial dysostosis, palagonia type 9.9 FGFR1 FGFR2
39 familial porphyria cutanea tarda 9.9 FGFR1 FGFR2 FGFR3
40 hartsfield syndrome 9.9 FGFR1 FGFR2 FGFR3
41 pointer syndrome 9.9 FGFR1 FGFR2 FGFR3
42 osteoglophonic dysplasia 9.9 FGFR1 FGFR2 FGFR3
43 scaphocephaly, maxillary retrusion, and mental retardation 9.9 FGFR1 FGFR2 FGFR3
44 apert syndrome 9.9 FGFR1 FGFR2 FGFR3
45 cervical cancer, somatic 9.9 FGFR1 FGFR2 FGFR3
46 robinow-sorauf syndrome 9.9 FGFR1 FGFR2 FGFR3
47 epidemic typhus 9.9 FGFR1 FGFR2
48 atrophy of testis 9.9 FGFR1 FGFR2 FGFR3
49 down syndrome 9.9
50 hypogonadotropic hypogonadism 2 with or without anosmia 9.9 FGFR1 FGFR2 FGFR3

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to Achondroplasia

Symptoms & Phenotypes for Achondroplasia

Symptoms by clinical synopsis from OMIM:

100800

Clinical features from OMIM:

100800

Human phenotypes related to Achondroplasia:

56 32 (show top 50) (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 56 32 Occasional (29-5%) HP:0001387
2 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
3 obesity 56 32 Frequent (79-30%) HP:0001513
4 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
5 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
6 hyperhidrosis 56 32 Frequent (79-30%) HP:0000975
7 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
8 dysarthria 56 32 Occasional (29-5%) HP:0001260
9 sudden cardiac death 56 32 Occasional (29-5%) HP:0001645
10 kyphosis 56 32 Frequent (79-30%) HP:0002808
11 hyperlordosis 56 32 Very frequent (99-80%) HP:0003307
12 chronic otitis media 56 32 Very frequent (99-80%) HP:0000389
13 dental malocclusion 56 32 Frequent (79-30%) HP:0000689
14 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
15 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
16 acanthosis nigricans 56 32 Occasional (29-5%) HP:0000956
17 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
18 narrow chest 56 32 Frequent (79-30%) HP:0000774
19 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
20 wormian bones 56 32 Very frequent (99-80%) HP:0002645
21 abnormal form of the vertebral bodies 56 32 Frequent (79-30%) HP:0003312
22 diaphyseal thickening 56 32 Frequent (79-30%) HP:0005019
23 ventriculomegaly 56 32 Frequent (79-30%) HP:0002119
24 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
25 rhizomelia 56 32 Very frequent (99-80%) HP:0008905
26 dental crowding 56 32 Frequent (79-30%) HP:0000678
27 conductive hearing impairment 56 32 Frequent (79-30%) HP:0000405
28 elbow dislocation 56 32 Occasional (29-5%) HP:0003042
29 genu varum 56 32 Very frequent (99-80%) HP:0002970
30 abnormality of the ribs 56 32 Very frequent (99-80%) HP:0000772
31 spinal canal stenosis 56 32 Occasional (29-5%) HP:0003416
32 obstructive sleep apnea 56 32 Frequent (79-30%) HP:0002870
33 narrow sacroiliac notch 56 32 Frequent (79-30%) HP:0008803
34 neonatal short-limb short stature 56 32 Very frequent (99-80%) HP:0008921
35 midface retrusion 56 32 Frequent (79-30%) HP:0011800
36 long thorax 56 32 Frequent (79-30%) HP:0100818
37 malar flattening 32 HP:0000272
38 megalencephaly 32 HP:0001355
39 neurological speech impairment 56 Occasional (29-5%)
40 bowing of the long bones 56 Frequent (79-30%)
41 death in infancy 56 Occasional (29-5%)
42 recurrent otitis media 32 HP:0000403
43 apnea 56 Frequent (79-30%)
44 brachydactyly syndrome 32 HP:0001156
45 abnormality of the ilium 56 Frequent (79-30%)
46 disproportionate short-limb short stature 56 Very frequent (99-80%)
47 abnormality of the elbow 56 Frequent (79-30%)
48 motor delay 32 HP:0001270
49 upper airway obstruction 32 HP:0002781
50 lumbar hyperlordosis 32 HP:0002938

MGI Mouse Phenotypes related to Achondroplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10 FGFR1 FGFR2 FGFR3 MAP2K1 NPPC PTH1R
2 growth/size/body region MP:0005378 9.97 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1 NPPC
3 digestive/alimentary MP:0005381 9.91 FGFR1 FGFR2 FGFR3 MAP2K1 PTH1R SOX9
4 embryo MP:0005380 9.88 FGF3 FGFR1 FGFR2 MAP2K1 PTH1R SOX9
5 hearing/vestibular/ear MP:0005377 9.8 SOX9 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
6 limbs/digits/tail MP:0005371 9.8 FGF3 FGFR1 FGFR2 FGFR3 NPPC PTH1R
7 normal MP:0002873 9.63 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1 SOX9
8 reproductive system MP:0005389 9.5 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1 NPPC
9 skeleton MP:0005390 9.23 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1 NPPC

Drugs & Therapeutics for Achondroplasia

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Natriuretic Agents Phase 2
2 Natriuretic Peptide, C-Type Phase 2

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Active, not recruiting NCT02055157 Phase 2
2 A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH) Enrolling by invitation NCT02724228 Phase 2
3 A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers Completed NCT01590446 Phase 1
4 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
5 Issues Surrounding Prenatal Genetic Testing for Achondroplasia Completed NCT00001536
6 A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin Completed NCT01435629
7 Special Survey for Long Term Application Completed NCT01516229
8 Simultaneous Lengthening of Bilateral Femora and Tibiae in Achondroplastic Patients Completed NCT01328418
9 Study of Skeletal Disorders and Short Stature Completed NCT00001754
10 A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Recruiting NCT01603095
11 Achondroplasia Natural History Multicenter Clinical Study Enrolling by invitation NCT02597881

Search NIH Clinical Center for Achondroplasia

Cochrane evidence based reviews: achondroplasia

Genetic Tests for Achondroplasia

Genetic tests related to Achondroplasia:

id Genetic test Affiliating Genes
1 Achondroplasia 29 24 FGFR3

Anatomical Context for Achondroplasia

MalaCards organs/tissues related to Achondroplasia:

39
Bone, Brain, Lung, Spinal Cord, Bone Marrow, Pituitary, Occipital Lobe

The Foundational Model of Anatomy Ontology organs/tissues related to Achondroplasia:

18
Long Bone

Publications for Achondroplasia

Articles related to Achondroplasia:

(show top 50) (show all 613)
id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

66
id Symbol AA change Variation ID SNP ID
1 FGFR3 p.Gly375Cys VAR_004154 rs75790268
2 FGFR3 p.Gly380Arg VAR_004155 rs28931614
3 FGFR3 p.Lys650Met VAR_004161 rs121913105

ClinVar genetic disease variations for Achondroplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
2 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
3 FGFR3 NM_000142.4(FGFR3): c.1123G> T (p.Gly375Cys) single nucleotide variant Pathogenic rs75790268 GRCh37 Chromosome 4, 1806104: 1806104
4 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
5 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
6 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh37 Chromosome 4, 1803657: 1803657

Expression for Achondroplasia

Search GEO for disease gene expression data for Achondroplasia.

Pathways for Achondroplasia

Pathways related to Achondroplasia according to GeneCards Suite gene sharing:

(show all 32)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 ACAN BMP8B FGFR1 FGFR2 FGFR3 MAP2K1
2
Show member pathways
13.36 BMP8B FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
3
Show member pathways
12.91 ACAN FGFR1 FGFR2 FGFR3 MAP2K1
4
Show member pathways
12.87 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
5
Show member pathways
12.69 FGFR1 FGFR2 FGFR3 MAP2K1
6
Show member pathways
12.68 FGF3 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.57 FGF3 FGFR1 FGFR2 FGFR3
8
Show member pathways
12.55 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
9 12.52 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
10
Show member pathways
12.44 FGF3 FGFR1 FGFR2 FGFR3
11 12.43 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
12
Show member pathways
12.36 FGFR1 FGFR2 FGFR3 MAP2K1
13 12.36 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
14
Show member pathways
12.3 FGFR1 FGFR2 FGFR3 MAP2K1
15
Show member pathways
12.26 FGF3 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.25 FGF3 FGFR1 FGFR2 FGFR3
17 12.25 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
18
Show member pathways
12.14 FGF3 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.08 FGFR1 FGFR2 FGFR3 MAP2K1
20
Show member pathways
12.07 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
21
Show member pathways
11.99 FGFR1 FGFR2 FGFR3 MAP2K1
22 11.96 FGFR1 FGFR2 FGFR3
23
Show member pathways
11.96 FGF3 FGFR1 FGFR2 FGFR3
24 11.81 FGFR1 FGFR2 FGFR3 MAP2K1
25 11.71 FGFR1 FGFR2 FGFR3
26 11.66 FGFR1 FGFR3 SOX9
27 11.6 FGFR1 FGFR2 FGFR3 MAP2K1
28 11.47 FGFR1 FGFR2 FGFR3 SOX9
29 11.37 FGFR1 FGFR2 FGFR3
30 11.07 FGFR1 FGFR2 FGFR3 MAP2K1
31 10.96 FGFR1 MAP2K1
32 10.83 ACAN FGFR1 FGFR3 PTH1R SOX9

GO Terms for Achondroplasia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.17 ACAN BMP8B FGF3 FGFR1 FGFR2 FGFR3

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

(show all 42)
id Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.98 FGFR1 FGFR2 FGFR3 MAP2K1
2 positive regulation of GTPase activity GO:0043547 9.97 FGF3 FGFR1 FGFR2 FGFR3
3 negative regulation of cell proliferation GO:0008285 9.94 MAP2K1 NPPC PTH1R SOX9
4 MAPK cascade GO:0000165 9.88 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
5 heart development GO:0007507 9.86 ACAN MAP2K1 SOX9
6 positive regulation of cell proliferation GO:0008284 9.85 FGF3 FGFR1 FGFR2 FGFR3 PTH1R SOX9
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.84 FGFR2 FGFR3 MAP2K1
8 negative regulation of gene expression GO:0010629 9.83 FGFR1 MAP2K1 SOX9
9 protein autophosphorylation GO:0046777 9.82 FGFR1 FGFR2 FGFR3
10 phosphatidylinositol-mediated signaling GO:0048015 9.81 FGF3 FGFR1 FGFR2 FGFR3
11 phosphatidylinositol phosphorylation GO:0046854 9.8 FGF3 FGFR1 FGFR2 FGFR3
12 positive regulation of MAPK cascade GO:0043410 9.78 FGFR1 FGFR2 FGFR3
13 ossification GO:0001503 9.76 BMP8B NPPC PTH1R SOX9
14 fibroblast growth factor receptor signaling pathway GO:0008543 9.73 FGF3 FGFR1 FGFR2 FGFR3
15 bone mineralization GO:0030282 9.72 FGFR2 FGFR3 PTH1R
16 peptidyl-tyrosine phosphorylation GO:0018108 9.72 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
17 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.71 FGF3 FGFR1 FGFR2 FGFR3
18 positive regulation of mesenchymal cell proliferation GO:0002053 9.7 FGFR1 FGFR2 SOX9
19 positive regulation of cell cycle GO:0045787 9.69 FGFR1 FGFR2
20 epithelial to mesenchymal transition GO:0001837 9.68 FGFR2 SOX9
21 cell maturation GO:0048469 9.68 FGFR1 PTH1R
22 midbrain development GO:0030901 9.67 FGFR1 FGFR2
23 bone morphogenesis GO:0060349 9.67 FGFR2 FGFR3
24 regulation of multicellular organism growth GO:0040014 9.66 FGFR2 NPPC
25 ERK1 and ERK2 cascade GO:0070371 9.65 MAP2K1 SOX9
26 positive regulation of cardiac muscle cell proliferation GO:0060045 9.64 FGFR1 FGFR2
27 chondrocyte development GO:0002063 9.63 ACAN SOX9
28 branching involved in salivary gland morphogenesis GO:0060445 9.63 FGFR1 FGFR2
29 limb bud formation GO:0060174 9.62 FGFR2 SOX9
30 lung-associated mesenchyme development GO:0060484 9.62 FGFR1 FGFR2
31 mesenchymal cell differentiation GO:0048762 9.61 FGFR1 FGFR2
32 endochondral bone growth GO:0003416 9.6 FGFR2 FGFR3
33 lacrimal gland development GO:0032808 9.59 FGFR2 SOX9
34 otic vesicle formation GO:0030916 9.58 FGFR2 SOX9
35 prostate gland morphogenesis GO:0060512 9.58 FGFR2 SOX9
36 orbitofrontal cortex development GO:0021769 9.57 FGFR1 FGFR2
37 ventricular zone neuroblast division GO:0021847 9.56 FGFR1 FGFR2
38 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.56 FGF3 FGFR1 FGFR2 FGFR3
39 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.54 FGFR1 FGFR2
40 positive regulation of phospholipase activity GO:0010518 9.33 FGFR1 FGFR2 FGFR3
41 chondrocyte differentiation GO:0002062 9.26 FGFR1 FGFR3 PTH1R SOX9
42 skeletal system development GO:0001501 9.17 ACAN BMP8B FGFR1 FGFR3 PTH1R SHOX

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

id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.83 FGFR1 FGFR2 FGFR3 MAP2K1 SOX9
2 nucleotide binding GO:0000166 9.76 FGFR1 FGFR2 FGFR3 MAP2K1
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.67 FGF3 FGFR1 FGFR2 FGFR3
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 FGFR1 FGFR2 FGFR3
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.56 FGF3 FGFR1 FGFR2 FGFR3
6 protein tyrosine kinase activity GO:0004713 9.55 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
7 fibroblast growth factor binding GO:0017134 9.5 FGFR1 FGFR2 FGFR3
8 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF3 FGFR1 FGFR2 FGFR3
9 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Achondroplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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