MCID: ACH004
MIFTS: 66

Achondroplasia

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

Aliases & Classifications for Achondroplasia

MalaCards integrated aliases for Achondroplasia:

Name: Achondroplasia 54 12 72 23 50 24 25 56 71 29 13 52 42 14 69
Achondroplastic Dwarfism 50 25 69
Ach 50 25 71
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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
paternal age effect
autosomal dominant with complete penetrance
80% cases new mutations
99+% of the mutations are fgfr3, g380r


HPO:

32
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:



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 thanatophoric dysplasia, type ii and crouzon syndrome with acanthosis nigricans, and has symptoms including dysarthria, ventriculomegaly and hydrocephalus. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are TGF-Beta Pathway and Phospholipase-C 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 growth/size/body region and craniofacial

UniProtKB/Swiss-Prot : 71 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 : 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 rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995). (100800)

Disease Ontology : 12 An osteochondrodysplasia that results_in dwarfism which has material basis in abnormal ossification of cartilage in located in long bone.

Wikipedia : 72 Achondroplasia is a common cause of dwarfism. It occurs as a sporadic mutation in about 80% of cases... 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 121)
id Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type ii 28.7 FGF3 FGFR1 FGFR2 FGFR3
2 crouzon syndrome with acanthosis nigricans 28.3 COMP FGFR2 FGFR3 PTH1R
3 thanatophoric dysplasia, type i 27.7 FGF3 FGFR1 FGFR2 FGFR3 NPPC SHOX
4 hypochondroplasia 26.4 ACAN BMP8B COMP FGF3 FGFR1 FGFR2
5 achondroplasia and severe combined immunodeficiency 12.1
6 saddan 12.0
7 achondroplasia and swiss type agammaglobulinemia 11.8
8 dwarfism 11.3
9 pseudoachondroplasia 11.1
10 short-limb skeletal dysplasia with severe combined immunodeficiency 11.0
11 chondrodysplasia punctata, x-linked dominant 10.8
12 x-linked chondrodysplasia punctata 10.8
13 rhizomelic chondrodysplasia punctata, type 1 10.8
14 mesomelia 10.7
15 hydrocephalus, nonsyndromic, autosomal recessive 10.7
16 atelosteogenesis, type i 10.7
17 boomerang dysplasia 10.7
18 epiphyseal chondrodysplasia, miura type 10.4 FGFR3 NPPC
19 autism susceptibility, x-linked 2 10.4 FGFR3 SHOX
20 myopathy with extrapyramidal signs 10.3 ACAN FGFR3
21 ocular hypotension 10.3 FGFR2 FGFR3
22 apert syndrome 10.3 FGFR2 FGFR3
23 charcot-marie-tooth disease type 7 10.3 FGFR3 NPPC SHOX
24 polyglucosan body disease, adult form 10.3 FGFR3 PTH1R
25 esotropia 10.2 FGFR2 FGFR3
26 breast intracanalicular fibroadenoma 10.1 FGFR3 PTH1R SOX9
27 phkg2-related phosphorylase kinase deficiency 10.1 FGFR1 FGFR2
28 angelman syndrome due to imprinting defect in 15q11-q13 10.1 FGFR3 PTH1R SOX9
29 vulvovaginitis 10.1 FGFR3 PTH1R SOX9
30 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 10.0 FGFR1 FGFR2
31 sleep disorder 10.0
32 cervicitis 10.0
33 syringobulbia 10.0 FGFR1 FGFR3 SOX9
34 spinal stenosis 10.0
35 sleep apnea 10.0
36 cerebral hemorrhage 10.0 ACAN COMP
37 obstructive sleep apnea 10.0
38 acanthosis nigricans 10.0
39 smed strudwick type 9.9 ACAN COMP
40 hydrocephalus 9.9
41 skeletal dysplasias 9.9
42 skeletal dysplasia 9.9
43 vulvar sarcoma 9.9 ACAN COMP
44 plasmalogens synthesis deficiency isolated 9.9 FGFR1 FGFR2 FGFR3
45 atrioventricular septal defect 9.9 COMP FGFR3
46 trigonocephaly 1 9.9 FGFR1 FGFR2 FGFR3
47 hypogonadotropic hypogonadism 2 with or without anosmia 9.9 FGFR1 FGFR2 FGFR3
48 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 9.9 FGFR1 FGFR2 FGFR3
49 beare-stevenson cutis gyrata syndrome 9.9 FGFR1 FGFR2 FGFR3
50 bladder cancer, somatic 9.9 FGFR1 FGFR2 FGFR3

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to Achondroplasia

Symptoms & Phenotypes for Achondroplasia

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
delayed motor development
hydrocephalus, occasional
hypotonia in infancy and early childhood
brain stem compression

Head And Neck- Face:
midface hypoplasia

Skeletal- Limbs:
rhizomelic shortening
short femoral neck
bowing of legs
metaphyseal flaring
limited elbow and hip extension

Head And Neck- Nose:
low nasal bridge

Respiratory- Airways:
upper airway obstruction

Skeletal- Skull:
jugular bulb dehiscence (in some patients)
foramen magnum stenosis

Skeletal- Pelvis:
dysplastic ilium
narrow sacroiliac groove
flat rooted acetabulae

Skeletal- Hands:
brachydactyly
trident hand

Head And Neck- Head:
frontal bossing
megalencephaly

Head And Neck- Ears:
conductive hearing loss
recurrent otitis media in infancy and childhood

Growth- Height:
short-limb dwarfism identifiable at birth
mean male adult height, 131 cm
mean female height, 124 cm

Skeletal:
generalized joint laxity

Skeletal- Spine:
lumbar kyphosis in infancy
exaggerated lumbar lordosis during childhood and adulthood
congenital spinal stenosis due to short pedicles, especially lumbar
progressive interpediculate narrowing in lumbar spine


Clinical features from OMIM:

100800

Human phenotypes related to Achondroplasia:

56 32 (show top 50) (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001260
2 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
3 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
4 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 wormian bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0002645
6 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
7 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
8 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
9 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
10 elbow dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0003042
11 genu varum 56 32 hallmark (90%) Very frequent (99-80%) HP:0002970
12 narrow chest 56 32 frequent (33%) Frequent (79-30%) HP:0000774
13 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
14 sudden cardiac death 56 32 occasional (7.5%) Occasional (29-5%) HP:0001645
15 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
16 midface retrusion 56 32 frequent (33%) Frequent (79-30%) HP:0011800
17 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
18 hyperlordosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003307
19 rhizomelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008905
20 obesity 56 32 frequent (33%) Frequent (79-30%) HP:0001513
21 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
22 dental malocclusion 56 32 frequent (33%) Frequent (79-30%) HP:0000689
23 acanthosis nigricans 56 32 occasional (7.5%) Occasional (29-5%) HP:0000956
24 hyperhidrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000975
25 dental crowding 56 32 frequent (33%) Frequent (79-30%) HP:0000678
26 obstructive sleep apnea 56 32 frequent (33%) Frequent (79-30%) HP:0002870
27 chronic otitis media 56 32 hallmark (90%) Very frequent (99-80%) HP:0000389
28 spinal canal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003416
29 narrow sacroiliac notch 56 32 frequent (33%) Frequent (79-30%) HP:0008803
30 diaphyseal thickening 56 32 frequent (33%) Frequent (79-30%) HP:0005019
31 long thorax 56 32 frequent (33%) Frequent (79-30%) HP:0100818
32 abnormal form of the vertebral bodies 56 32 frequent (33%) Frequent (79-30%) HP:0003312
33 conductive hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000405
34 abnormality of the ribs 56 32 hallmark (90%) Very frequent (99-80%) HP:0000772
35 neonatal short-limb short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0008921
36 brachydactyly 32 HP:0001156
37 lumbar hyperlordosis 32 HP:0002938
38 apnea 56 Frequent (79-30%)
39 motor delay 32 HP:0001270
40 limited elbow extension 32 HP:0001377
41 death in infancy 56 Occasional (29-5%)
42 short femoral neck 32 HP:0100864
43 malar flattening 32 HP:0000272
44 recurrent otitis media 32 HP:0000403
45 megalencephaly 32 HP:0001355
46 upper airway obstruction 32 HP:0002781
47 generalized joint laxity 32 HP:0002761
48 lumbar kyphosis in infancy 32 HP:0008414
49 trident hand 32 HP:0004060
50 brain stem compression 32 HP:0002512

MGI Mouse Phenotypes related to Achondroplasia:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.09 FGFR3 MAP2K1 NPPC PTH1R SOX9 COMP
2 craniofacial MP:0005382 10.04 FGFR1 FGFR2 FGFR3 MAP2K1 NPPC PTH1R
3 limbs/digits/tail MP:0005371 9.97 COMP FGF3 FGFR1 FGFR2 FGFR3 NPPC
4 digestive/alimentary MP:0005381 9.95 FGFR1 FGFR2 FGFR3 MAP2K1 PTH1R SOX9
5 embryo MP:0005380 9.93 FGF3 FGFR1 FGFR2 MAP2K1 PTH1R SOX9
6 hearing/vestibular/ear MP:0005377 9.88 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1 SOX9
7 nervous system MP:0003631 9.87 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1 NPPC
8 normal MP:0002873 9.8 COMP FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
9 reproductive system MP:0005389 9.7 MAP2K1 NPPC SOX9 FGF3 FGFR1 FGFR2
10 skeleton MP:0005390 9.61 MAP2K1 NPPC PTH1R SOX9 COMP FGF3
11 vision/eye MP:0005391 9.02 MAP2K1 SOX9 FGFR1 FGFR2 FGFR3

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 3,Phase 2
2 Natriuretic Peptide, C-Type Phase 3,Phase 2

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03197766 Phase 3 BMN 111;Placebo
2 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Active, not recruiting NCT02055157 Phase 2 BMN 111
3 A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH) Enrolling by invitation NCT02724228 Phase 2 BMN 111
4 A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers Completed NCT01590446 Phase 1 BMN 111;Normal Saline
5 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
6 Issues Surrounding Prenatal Genetic Testing for Achondroplasia Completed NCT00001536
7 A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin Completed NCT01435629 somatropin
8 Special Survey for Long Term Application Completed NCT01516229 somatropin
9 Simultaneous Lengthening of Bilateral Femora and Tibiae in Achondroplastic Patients Completed NCT01328418
10 Study of Skeletal Disorders and Short Stature Completed NCT00001754
11 Achondroplasia Natural History Multicenter Clinical Study Enrolling by invitation NCT02597881
12 A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Enrolling by invitation NCT01603095

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, Testes, Spinal Cord, Bone Marrow, Occipital Lobe

Publications for Achondroplasia

Articles related to Achondroplasia:

(show top 50) (show all 630)
id Title Authors Year
1
Humeral lengthening in patients with achondroplasia and in patients with post-septic shortening: comparison of procedure efficiency and safety. ( 28889181 )
2017
2
Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature. ( 28497003 )
2017
3
Clinical dosage of meclozine promotes longitudinal bone growth, bone volume, and trabecular bone quality in transgenic mice with achondroplasia. ( 28785080 )
2017
4
Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia. ( 28520086 )
2017
5
Sinus pericranii in achondroplasia: a case report and review of the literature. ( 28872565 )
2017
6
Achondroplasia with Polydactyly: A Case Report. ( 28511523 )
2017
7
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )
2017
8
A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data. ( 28374958 )
2017
9
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. ( 28230213 )
2017
10
Myxoedema in a patient with achondroplasia in rural area of Guatemala. ( 28280081 )
2017
11
Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia. ( 28819680 )
2017
12
Coincidental Finding of Twin Dentigerous Cyst in an Achondroplasia Patient. ( 28893057 )
2017
13
Final adult height in long-term growth hormone-treated achondroplasia patients. ( 28501952 )
2017
14
Long-term follow-up of a patient with achondroplasia treated with an orthodontic approach. ( 28364903 )
2017
15
Maternal administration of meclozine for the treatment of foramen magnum stenosis in transgenic mice with achondroplasia. ( 27767902 )
2017
16
Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit. ( 28210519 )
2017
17
Circulatory CNP Rescues Craniofacial Hypoplasia in Achondroplasia. ( 28644737 )
2017
18
Bilateral simultaneous total hip replacement in Achondroplasia. ( 28878547 )
2017
19
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. ( 28911208 )
2017
20
Achondroplasia with multiple supplemental supernumerary teeth and multiple talon cusps: A rare case report. ( 28702065 )
2017
21
The prevalence of the complications and their associated factors in humeral lengthening for achondroplasia: retrospective study of 54 cases. ( 28107267 )
2017
22
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years. ( 28672740 )
2017
23
Growth Modulation in Achondroplasia. ( 28719547 )
2017
24
Avascular Retinal Findings in a Child With Achondroplasia. ( 28297043 )
2017
25
Sleep disordered breathing in children with achondroplasia. ( 27830579 )
2017
26
Sleep-disordered breathing and its management in children with achondroplasia. ( 28239978 )
2017
27
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years. ( 28693116 )
2017
28
Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family. ( 28679403 )
2017
29
Two-staged Bilateral, Femoral Alignment Osteotomy with Concomitant Total Knee Arthroplasty in an Achondroplasia Patient - A Case Report. ( 28819598 )
2017
30
Current Care and Investigational Therapies in Achondroplasia. ( 28224446 )
2017
31
Reverse shoulder arthroplasty in young patient with achondroplasia - Ten year follow up: Case report. ( 28827054 )
2017
32
Anesthesia for Pulmonary Endarterectomy and Extracorporeal Membrane Oxygenation in a Patient With Achondroplasia. ( 28502457 )
2017
33
Growth charts for Australian children with achondroplasia. ( 28599087 )
2017
34
Arthroscopic knee anatomy in young achondroplasia patients. ( 28828058 )
2017
35
Cervicomedullary junction compression in infant with achondroplasia. ( 26944588 )
2016
36
Alternative technique in atypical spinal decompression: the use of the ultrasonic scalpel in paediatric achondroplasia. ( 27288205 )
2016
37
Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible. ( 27260401 )
2016
38
Achondroplasia. ( 27387628 )
2016
39
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
40
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
41
Identifying spinal cord compression in achondroplasia - the role of somatosensory evoked potentials and the need for screening. ( 27651125 )
2016
42
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
43
FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset. ( 27370225 )
2016
44
C-Type Natriuretic Peptide Analog as Therapy for Achondroplasia. ( 26684019 )
2016
45
Multilevel thoracic ossification of the ligamentum flavum in a Hispanic woman with achondroplasia. ( 27140867 )
2016
46
The natural history of thoracolumbar kyphosis in achondroplasia. ( 28005181 )
2016
47
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. ( 27506979 )
2016
48
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. ( 26814021 )
2016
49
The neuropsychological function of children with achondroplasia. ( 27605460 )
2016
50
Height Outcome of Recombinant Human Growth Hormone Treatment in Achondroplasia Children: A Meta-Analysis. ( 27355624 )
2016

Variations for Achondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

71
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
13.36 BMP8B FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
2
Show member pathways
12.91 ACAN FGFR1 FGFR2 FGFR3 MAP2K1
3
Show member pathways
12.69 FGFR1 FGFR2 FGFR3 MAP2K1
4
Show member pathways
12.68 FGF3 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.57 FGF3 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.56 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
7 12.5 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
8
Show member pathways
12.44 FGF3 FGFR1 FGFR2 FGFR3
9 12.43 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
10
Show member pathways
12.39 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
11 12.36 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
12
Show member pathways
12.35 FGFR1 FGFR2 FGFR3 MAP2K1
13 12.33 COMP FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
14
Show member pathways
12.29 FGFR1 FGFR2 FGFR3 MAP2K1
15
Show member pathways
12.25 FGF3 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.24 FGF3 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.13 FGF3 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.11 FGFR1 FGFR2 FGFR3 MAP2K1
19
Show member pathways
12.07 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
20
Show member pathways
12.06 FGFR1 FGFR2 FGFR3 MAP2K1
21
Show member pathways
11.96 FGF3 FGFR1 FGFR2 FGFR3
22 11.95 FGFR1 FGFR2 FGFR3
23 11.81 FGFR1 FGFR2 FGFR3 MAP2K1
24 11.71 FGFR1 FGFR2 FGFR3
25 11.66 FGFR1 FGFR3 SOX9
26 11.6 FGFR1 FGFR2 FGFR3 MAP2K1
27 11.47 FGFR1 FGFR2 FGFR3 SOX9
28 11.32 FGFR1 FGFR2 FGFR3
29 11.23 ACAN COMP
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 9.23 ACAN BMP8B COMP FGF3 FGFR1 FGFR2

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

(show all 37)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.94 MAP2K1 NPPC PTH1R SOX9
2 positive regulation of cell proliferation GO:0008284 9.91 FGF3 FGFR1 FGFR2 FGFR3 PTH1R SOX9
3 MAPK cascade GO:0000165 9.88 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
4 extracellular matrix organization GO:0030198 9.84 ACAN COMP SOX9
5 negative regulation of gene expression GO:0010629 9.84 FGFR1 MAP2K1 SOX9
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 FGFR2 FGFR3 MAP2K1
7 protein autophosphorylation GO:0046777 9.82 FGFR1 FGFR2 FGFR3
8 phosphatidylinositol-mediated signaling GO:0048015 9.81 FGF3 FGFR1 FGFR2 FGFR3
9 phosphatidylinositol phosphorylation GO:0046854 9.8 FGF3 FGFR1 FGFR2 FGFR3
10 positive regulation of MAPK cascade GO:0043410 9.78 FGFR1 FGFR2 FGFR3
11 ossification GO:0001503 9.76 BMP8B NPPC PTH1R SOX9
12 bone mineralization GO:0030282 9.72 FGFR2 FGFR3 PTH1R
13 peptidyl-tyrosine phosphorylation GO:0018108 9.72 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
14 fibroblast growth factor receptor signaling pathway GO:0008543 9.71 FGF3 FGFR1 FGFR2 FGFR3
15 positive regulation of mesenchymal cell proliferation GO:0002053 9.7 FGFR1 FGFR2 SOX9
16 midbrain development GO:0030901 9.67 FGFR1 FGFR2
17 positive regulation of cardiac muscle cell proliferation GO:0060045 9.67 FGFR1 FGFR2
18 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.67 FGF3 FGFR1 FGFR2 FGFR3
19 bone morphogenesis GO:0060349 9.65 FGFR2 FGFR3
20 ERK1 and ERK2 cascade GO:0070371 9.65 MAP2K1 SOX9
21 regulation of multicellular organism growth GO:0040014 9.65 FGFR2 NPPC
22 chondrocyte development GO:0002063 9.63 ACAN SOX9
23 branching involved in salivary gland morphogenesis GO:0060445 9.63 FGFR1 FGFR2
24 limb bud formation GO:0060174 9.62 FGFR2 SOX9
25 lung-associated mesenchyme development GO:0060484 9.62 FGFR1 FGFR2
26 mesenchymal cell differentiation GO:0048762 9.61 FGFR1 FGFR2
27 endochondral bone growth GO:0003416 9.6 FGFR2 FGFR3
28 lacrimal gland development GO:0032808 9.59 FGFR2 SOX9
29 otic vesicle formation GO:0030916 9.58 FGFR2 SOX9
30 prostate gland morphogenesis GO:0060512 9.58 FGFR2 SOX9
31 orbitofrontal cortex development GO:0021769 9.57 FGFR1 FGFR2
32 ventricular zone neuroblast division GO:0021847 9.56 FGFR1 FGFR2
33 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.56 FGF3 FGFR1 FGFR2 FGFR3
34 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.54 FGFR1 FGFR2
35 positive regulation of phospholipase activity GO:0010518 9.33 FGFR1 FGFR2 FGFR3
36 chondrocyte differentiation GO:0002062 9.26 FGFR1 FGFR3 PTH1R SOX9
37 skeletal system development GO:0001501 9.23 ACAN BMP8B COMP FGFR1 FGFR3 PTH1R

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 heparin binding GO:0008201 9.65 COMP FGFR1 FGFR2
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 FGFR1 FGFR2 FGFR3
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.56 FGF3 FGFR1 FGFR2 FGFR3
7 protein tyrosine kinase activity GO:0004713 9.55 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
8 fibroblast growth factor binding GO:0017134 9.5 FGFR1 FGFR2 FGFR3
9 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF3 FGFR1 FGFR2 FGFR3
10 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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