ACH
MCID: ACH004
MIFTS: 66

Achondroplasia (ACH)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Achondroplasia

MalaCards integrated aliases for Achondroplasia:

Name: Achondroplasia 57 11 24 19 42 58 75 73 28 12 53 5 14 38 71 31 33
Achondroplastic Dwarfism 19 42 75 71 33
Ach 57 19 42 73
Osteosclerosis Congenita 11 33
Achondroplastic Short Stature 33
Congenital Osteosclerosis 33
Achondroplastic Physique 11
Dwarf, Achondroplastic 42
Chondrodystrophia 11

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-9/100000 (Worldwide, Europe, France, Italy, Sweden, Spain, Denmark, Latin America, Australia, Switzerland, United Kingdom, Ukraine, North America, Cuba, Mexico, Argentina, Germany, Malta, Netherlands, Norway, Poland) 6-9/10000 (Iraq) 1-5/10000 (Iran, Islamic Republic of, Kuwait, Lebanon, Saudi Arabia, United Arab Emirates, Cameroon, Venezuela, Nigeria) 58

Age Of Onset:

Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
autosomal dominant with complete penetrance
80% cases new mutations
99+% of the mutations are fgfr3, g380r
paternal age effect


GeneReviews:

24
Penetrance Penetrance is 100%; all individuals who have an fgfr3 heterozygous pathogenic variant associated with achondroplasia have the clinical manifestations of the disorder.

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:4480
OMIM® 57 100800
MeSH 43 D000130
NCIt 49 C34345
SNOMED-CT 68 268273004
ICD10 31 Q77.4
MESH via Orphanet 44 D000130
ICD10 via Orphanet 32 Q77.4
UMLS via Orphanet 72 C0001080
Orphanet 58 ORPHA15
MedGen 40 C0001080
ICD11 33 24224082
UMLS 71 C0001080 C2930793

Summaries for Achondroplasia

MedlinePlus Genetics: 42 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.All people with achondroplasia have short stature. The average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch). Characteristic features of achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head (macrocephaly) with a prominent forehead. Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance. People with achondroplasia are generally of normal intelligence.Health problems commonly associated with achondroplasia include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections. In childhood, individuals with the condition usually develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs. Some affected people also develop abnormal front-to-back curvature of the spine (kyphosis) and back pain. A potentially serious complication of achondroplasia is spinal stenosis, which is a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord. Spinal stenosis is associated with pain, tingling, and weakness in the legs that can cause difficulty with walking. Another uncommon but serious complication of achondroplasia is hydrocephalus, which is a buildup of fluid in the brain in affected children that can lead to increased head size and related brain abnormalities.

MalaCards based summary: Achondroplasia, also known as achondroplastic dwarfism, is related to achondroplasia, severe, with developmental delay and acanthosis nigricans and hypochondroplasia. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Hormones and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include long bone, bone and spinal cord, and related phenotypes are bowing of the legs and thoracolumbar kyphosis

GARD: 19 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 (macrocephaly), small fingers, and normal intelligence. Achondroplasia can cause health complications such as interruption of breathing (apnea), obesity, recurrent ear infections, an exaggerated inward curve of the lumbar spine (lordosis). More serious problems include a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord (spinal stenosis) and a buildup of fluid in the brain (hydrocephalus). Some people with Achondroplasia may have delayed motor development early on, but cognition is normal. Achondroplasia is caused by genetic changes in the FGFR3 gene. Inheritance is autosomal dominant.

OMIM®: 57 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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. ACH is an autosomal dominant disease.

Orphanet: 58 A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

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

Wikipedia: 75 Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary... 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 410)
# Related Disease Score Top Affiliating Genes
1 achondroplasia, severe, with developmental delay and acanthosis nigricans 32.7 PTH1R NPPC FGFR3 FGFR2 FGFR1
2 hypochondroplasia 31.3 TK1 SOX9 SHOX NPPC FGFR3 FGFR2
3 hydrocephalus 30.9 IGF1 FGFR3 FGFR2 FGFR1
4 acanthosis nigricans 30.6 IGF1 FGFR3 FGFR2
5 thanatophoric dysplasia, type i 30.6 TK1 SHOX PTH1R NPPC FGFR3 FGFR2
6 nevus, epidermal 30.5 FGFR3 FGFR2 FGFR1
7 synostosis 30.4 FGFR3 FGFR2 FGFR1
8 rickets 30.3 SPP1 IGF1 BGLAP
9 turner syndrome 30.2 SHOX PAPPA IGF1
10 exostosis 30.2 SOX9 BGLAP ACAN
11 camptodactyly-tall stature-scoliosis-hearing loss syndrome 30.0 PTH1R NPPC FGFR3
12 plagiocephaly 30.0 FGFR3 FGFR2 FGFR1
13 muenke syndrome 30.0 FGFR3 FGFR2 FGFR1
14 hypogonadotropic hypogonadism 30.0 SOX9 SHOX IGF1 FGFR1
15 spondyloepimetaphyseal dysplasia, strudwick type 30.0 SHOX PTH1R FGFR3 FBN1 ACAN
16 acromesomelic dysplasia 29.9 SHOX NPPC FGFR3 ACAN
17 leri-weill dyschondrosteosis 29.9 SHOX NPPC FGFR3 ACAN
18 isolated growth hormone deficiency, type ia 29.9 SOX9 SHOX PTH1R NPPC IGF1 FGFR3
19 crouzon syndrome 29.9 NPPC FGFR3 FGFR2 FGFR1 FGF3 BGLAP
20 osteoarthritis 29.8 SOX9 IGF1 BGLAP ACAN
21 enchondromatosis, multiple, ollier type 29.8 SPP1 SOX9 PTH1R FGFR3 ACAN
22 aortic dissection 29.8 SPP1 FBN1 ACAN
23 acromesomelic dysplasia 1 29.7 SHOX NPPC IGF1 FGFR3 ACAN
24 hyperostosis 29.7 SPP1 MAP2K1 IGF1 COL1A1
25 exotropia 29.7 IGF1 FGFR2 FBN1 ACAN
26 lacrimoauriculodentodigital syndrome 29.7 FGFR3 FGFR2 FGFR1 FGF3
27 bone disease 29.7 SPP1 PTH1R IGF1 FGFR3 FGFR2 FGFR1
28 pfeiffer syndrome 29.6 TK1 FGFR3 FGFR2 FGFR1
29 ankylosis 29.5 SPP1 FGFR2 FGFR1 BGLAP
30 tooth agenesis 29.5 PTH1R FGFR2 FGFR1 FGF3 COL1A1
31 osteochondrodysplasia 29.5 SPP1 SOX9 SHOX PTH1R NPPC IGF1
32 craniosynostosis 29.4 SPP1 SOX9 FGFR3 FGFR2 FGFR1 FGF3
33 noonan syndrome 1 29.4 SHOX MAP2K1 IGF1 FGFR3 FGFR1 FBN1
34 brachydactyly 29.4 SOX9 FGFR3 FBN1 ACAN
35 disorder of sexual development 29.3 SOX9 SHOX IGF1 FGFR2
36 marfan syndrome 29.3 LOC113939944 FBN1 COL1A1
37 cleft palate, isolated 29.2 SOX9 FGFR3 FGFR2 FGFR1 FGF3 FBN1
38 brittle bone disorder 29.0 SPP1 SOX9 PTH1R IGF1 FGFR3 FBN1
39 scoliosis 28.9 SOX9 SHOX IGF1 FGFR3 FGFR2 FGFR1
40 short-limb skeletal dysplasia with severe combined immunodeficiency 11.6
41 rhizomelic chondrodysplasia punctata, type 1 11.2
42 x-linked chondrodysplasia punctata 1 11.2
43 x-linked chondrodysplasia punctata 2 11.2
44 hydrocephalus, congenital, 1 11.0
45 pseudoachondroplasia 11.0
46 mesomelia 11.0
47 spinal stenosis 10.6
48 apnea, obstructive sleep 10.5
49 sleep apnea 10.4
50 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to Achondroplasia

Symptoms & Phenotypes for Achondroplasia

Human phenotypes related to Achondroplasia:

58 30 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bowing of the legs 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002979
2 thoracolumbar kyphosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005619
3 macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000256
4 frontal bossing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002007
5 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
6 depressed nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005280
7 anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
HP:0000463
8 brachydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001156
9 lumbar hyperlordosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002938
10 obstructive sleep apnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002870
11 short long bone 58 30 Frequent (33%) Frequent (79-30%)
HP:0003026
12 short middle phalanx of finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0005819
13 limited elbow extension 58 30 Frequent (33%) Frequent (79-30%)
HP:0001377
14 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
15 central sleep apnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0010536
16 cervical spinal canal stenosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0008445
17 parietal bossing 58 30 Frequent (33%) Frequent (79-30%)
HP:0000242
18 short nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0003194
19 hip joint hypermobility 58 30 Frequent (33%) Frequent (79-30%)
HP:0045087
20 trident hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0004060
21 short proximal phalanx of finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0010241
22 functional abnormality of the middle ear 58 30 Frequent (33%) Frequent (79-30%)
HP:0011452
23 abnormal midface morphology 30 Frequent (33%) HP:0000309
24 knee joint hypermobility 30 Frequent (33%) HP:0045086
25 hydrocephalus 58 30 Occasional (7.5%) Very rare (<4-1%)
HP:0000238
26 obesity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001513
27 wide anterior fontanel 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000260
28 acanthosis nigricans 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000956
29 hypoxemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012418
30 rhizomelia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008905
31 thoracic hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005257
32 restrictive ventilatory defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002091
33 flat acetabular roof 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003180
34 narrow greater sciatic notch 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003375
35 abnormal iliac wing morphology 30 Occasional (7.5%) HP:0011867
36 megalencephaly 30 HP:0001355
37 kyphosis 58 Very frequent (99-80%)
38 recurrent otitis media 30 HP:0000403
39 motor delay 30 HP:0001270
40 conductive hearing impairment 30 HP:0000405
41 spinal canal stenosis 58 Frequent (79-30%)
42 malar flattening 30 HP:0000272
43 genu varum 30 HP:0002970
44 neonatal short-limb short stature 30 HP:0008921
45 midface retrusion 30 HP:0011800
46 abnormality of the shape of the midface 58 Frequent (79-30%)
47 upper airway obstruction 30 HP:0002781
48 brain stem compression 30 HP:0002512
49 limb undergrowth 58 Very frequent (99-80%)
50 abnormality of the wing of the ilium 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
megalencephaly
frontal bossing

Respiratory Airways:
upper airway obstruction

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

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

Head And Neck Face:
midface hypoplasia

Head And Neck Nose:
low nasal bridge

Skeletal Pelvis:
dysplastic ilium
narrow sacroiliac groove
flat rooted acetabulae

Skeletal Hands:
brachydactyly
trident hand

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

Skeletal:
generalized joint laxity

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

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

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

Clinical features from OMIM®:

100800 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Achondroplasia:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.45 ACAN BGLAP COL1A1 F2RL2 FBN1 FGFR1
2 nervous system MP:0003631 10.4 ACAN COL1A1 FBN1 FGF3 FGFR1 FGFR2
3 growth/size/body region MP:0005378 10.4 ACAN BMP8B COL1A1 FBN1 FGF3 FGFR1
4 normal MP:0002873 10.35 ACAN COL1A1 FGF3 FGFR1 FGFR2 FGFR3
5 limbs/digits/tail MP:0005371 10.35 ACAN COL1A1 FBN1 FGF3 FGFR1 FGFR2
6 endocrine/exocrine gland MP:0005379 10.32 BGLAP BMP8B COL1A1 FBN1 FGFR1 FGFR2
7 renal/urinary system MP:0005367 10.24 COL1A1 FBN1 FGFR1 FGFR2 FGFR3 IGF1
8 neoplasm MP:0002006 10.21 ACAN COL1A1 FGFR2 FGFR3 IGF1 MAP2K1
9 cardiovascular system MP:0005385 10.21 ACAN COL1A1 FBN1 FGFR1 FGFR2 IGF1
10 immune system MP:0005387 10.21 ACAN BGLAP BMP8B COL1A1 FBN1 FGF3
11 craniofacial MP:0005382 10.2 ACAN COL1A1 FBN1 FGFR1 FGFR2 FGFR3
12 hearing/vestibular/ear MP:0005377 10.19 ACAN COL1A1 FGF3 FGFR1 FGFR2 FGFR3
13 muscle MP:0005369 10.18 ACAN COL1A1 FBN1 FGFR1 FGFR2 IGF1
14 behavior/neurological MP:0005386 10.18 ACAN COL1A1 FBN1 FGF3 FGFR1 FGFR2
15 embryo MP:0005380 10.15 BMP8B COL1A1 FBN1 FGF3 FGFR1 FGFR2
16 no phenotypic analysis MP:0003012 10.14 COL1A1 FBN1 FGF3 FGFR1 FGFR2 FGFR3
17 digestive/alimentary MP:0005381 10.13 ACAN COL1A1 FGFR1 FGFR2 FGFR3 MAP2K1
18 reproductive system MP:0005389 10.13 BGLAP BMP8B COL1A1 FBN1 FGF3 FGFR1
19 adipose tissue MP:0005375 10.1 BGLAP COL1A1 FBN1 FGFR2 IGF1 PTH1R
20 skeleton MP:0005390 10.03 ACAN BGLAP COL1A1 FBN1 FGF3 FGFR1
21 respiratory system MP:0005388 10.02 ACAN COL1A1 FBN1 FGFR2 FGFR3 IGF1
22 hematopoietic system MP:0005397 9.73 BGLAP COL1A1 F2RL2 FBN1 FGFR1 FGFR2
23 mortality/aging MP:0010768 9.5 ACAN BMP8B COL1A1 FBN1 FGF3 FGFR1

Drugs & Therapeutics for Achondroplasia

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4
2 Hormone Antagonists Phase 4
3 Natriuretic Peptide, C-Type Phase 3
4
Infigratinib Approved, Investigational Phase 2 872511-34-7 53235510
5
Mometasone furoate Approved, Investigational, Vet_approved Phase 2 83919-23-7 4240 441336
6
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 2 133585-56-5, 60-18-4, 556-02-5 1153 6057
7
Resveratrol Investigational Phase 2 501-36-0 445154
8 Mitogens Phase 2
9 Platelet Aggregation Inhibitors Phase 2
10 Antioxidants Phase 2
11 Protective Agents Phase 2

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Open-label, Single Arm Phase IV Clinical Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Children With Achondroplasia Not yet recruiting NCT05353192 Phase 4 Recombinant human growth hormone
2 A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Completed NCT03197766 Phase 3 BMN 111;Placebo
3 A Phase 3, Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03424018 Phase 3 BMN 111
4 A Phase 2b, Multicenter, Double-Blind, Randomized, Placebo-controlled Trial Evaluating Efficacy and Safety of Subcutaneous Doses of TransCon CNP Administered Once Weekly for 52 Weeks in Children With Achondroplasia Followed by an Open Label Extension Period Not yet recruiting NCT05598320 Phase 2, Phase 3 TransCon CNP;Placebo for TransCon CNP
5 A Phase 2, Open-label, Sequential Cohort Dose-escalation Study of BMN 111 in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
6 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia, Age 0 to < 60 Months Completed NCT03583697 Phase 2 BMN 111;Placebo
7 Phase 2, Open-Label, Dose-Escalation and Dose-Expansion Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children With Achondroplasia: PROPEL 2 Recruiting NCT04265651 Phase 2 Infigratinib 0.016 mg/kg;Infigratinib 0.032 mg/kg;Infigratinib 0.064 mg/kg;Infigratinib 0.128 mg/kg
8 A PHASE 2 MULTIPLE DOSE, RANDOMIZED STUDY TO ASSESS THE SAFETY, TOLERABILITY, PHARMACOKINETICS AND EFFICACY OF RECIFERCEPT IN CHILDREN WITH ACHONDROPLASIA Recruiting NCT04638153 Phase 2
9 ACcomplisH China: A Phase 2, Multicenter, Randomized, Placebo-controlled, Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of Multiple Subcutaneous Doses of TransCon CNP Administered Once Weekly in Children With Achondroplasia Recruiting NCT05246033 Phase 2 TransCon CNP;Placebo for TransCon CNP
10 Phase 2, Open-Label, Long-Term, Extension (OLE) Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children With Achondroplasia: PROPEL OLE Recruiting NCT05145010 Phase 2 Infigratinib
11 A Randomized, Controlled, Open-label Clinical Trial With an Open-label Extension to Investigate the Safety of Vosoritide in Infants and Young Children With Achondroplasia at Risk of Requiring Cervicomedullary Decompression Surgery Active, not recruiting NCT04554940 Phase 2
12 A Phase 2, Open-Label, Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of BMN 111 in Children With Achondroplasia Active, not recruiting NCT02724228 Phase 2 BMN 111
13 A PHASE 2 OPEN LABEL EXTENSION STUDY TO ASSESS THE LONG-TERM SAFETY, TOLERABILITY, PHARMACOKINETICS AND EFFICACY OF RECIFERCEPT IN CHILDREN WITH ACHONDROPLASIA Active, not recruiting NCT05116046 Phase 2
14 A Phase 2 Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03989947 Phase 2 Active BMN 111: Subcutaneous injection of recommended dose of BMN 111 based on weight-band dosing once daily.
15 ACcomplisH: A Phase 2, Multicenter, Double-blind, Randomized, Placebo-controlled, Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of Subcutaneous Doses of TransCon CNP Administered Once Weekly for 52 Weeks in Prepubertal Children With Achondroplasia Followed by an Open-Label Extension Period Enrolling by invitation NCT04085523 Phase 2 TransCon CNP;Placebo for TransCon CNP;sWfI Placebo for TransCon CNP
16 Resveratrol Trial for Relief of Pain in Pseudoachondroplasia Terminated NCT03866200 Phase 2 resveratrol;Placebo
17 A Phase 1, Two-Part, Double-Blind, Placebo-Controlled Study to Evaluate Safety, Tolerability, and Pharmacokinetics of Single and Multiple Doses of BMN 111 Administered to Healthy Adult Volunteers Completed NCT01590446 Phase 1 BMN 111;Normal Saline
18 Retrospective Clinical Study to Evaluate of Cranio-vertebral Abnormalities Through Radiological Analysis in Patients With Achondroplasia Treated/Followed at the Hôpital Femme Mère Enfant Unknown status NCT04184817
19 Lifetime Impact Study for Achondroplasia (LISA) Completed NCT03872531
20 The Norwegian Adult Achondroplasia Study Completed NCT03780153
21 A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Completed NCT01603095
22 Issues Surrounding Prenatal Genetic Testing for Achondroplasia Completed NCT00001536
23 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
24 Open-label, Multicenter, Observational, Non-intervention Study to Retrospectively Evaluate the Efficacy of Norditropin® (Adult Height) in Patients With Achondroplasia/Hypochondroplasia Enrolled in the GH-1941 Study [Follow-up Survey] Completed NCT01435629 somatropin
25 Specific Survey of Norditropin® in Achondroplasia: Survey for Long-term Application Completed NCT01516229 somatropin
26 The Impact of Achondroplasia on Quality of Life, Healthcare Resource Use, Clinical, Socio-economic and Psychosocial State of the Individual. Completed NCT03449368
27 ACHieve: A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia Recruiting NCT03875534
28 Local Registry for Data Collection of Patients With Achondroplasia / Hypochondroplasia for Epidemiological, Care and Research Studies Recruiting NCT05328050
29 Prospective Clinical Assessment Study in Children With Achondroplasia: The PROPEL Trial Recruiting NCT04035811
30 Adaption and Testing of the Quality of Life in Short Stature Youth (QoLISSY) Questionnaire for Parents With Children From 0-4 Recruiting NCT05603936
31 An International, Prospective Registry Investigating the Natural History of Participants With Achondroplasia Active, not recruiting NCT03794609
32 Achondroplasia Natural History Multicenter Clinical Study Enrolling by invitation NCT02597881

Search NIH Clinical Center for Achondroplasia

Genetic Tests for Achondroplasia

Genetic tests related to Achondroplasia:

# Genetic test Affiliating Genes
1 Achondroplasia 28 FGFR3

Anatomical Context for Achondroplasia

Organs/tissues related to Achondroplasia:

FMA: Long Bone
MalaCards : Bone, Spinal Cord, Brain, Testes, Bone Marrow, Temporal Lobe, Occipital Lobe

Publications for Achondroplasia

Articles related to Achondroplasia:

(show top 50) (show all 2026)
# Title Authors PMID Year
1
Achondroplasia is defined by recurrent G380R mutations of FGFR3. 53 62 24 57 5
7847369 1995
2
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. 53 62 24 57 5
7913883 1994
3
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. 62 24 57 5
18266238 2008
4
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 53 62 57 5
16912704 2006
5
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. 53 62 57 5
16411219 2006
6
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. 53 62 57 5
15517832 2004
7
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. 53 62 57 5
7758520 1995
8
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 53 62 57 5
8078586 1994
9
Germline and somatic mosaicism in achondroplasia. 62 57 5
11186939 2000
10
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. 62 57 5
11186940 2000
11
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. 62 24 57
18698630 2008
12
Mortality in achondroplasia study: a 42-year follow-up. 62 24 57
17879967 2007
13
Weight for age charts for children with achondroplasia. 62 24 57
17764078 2007
14
Double heterozygosity in bone growth disorders: four new observations and review. 62 24 57
12923858 2003
15
Recurrence risk for sibs of children with "sporadic" achondroplasia. 62 24 57
10678665 2000
16
Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. 62 24 57
9797588 1998
17
Standard weight for height curves in achondroplasia. 62 24 57
8882783 1996
18
Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. 62 24 57
8585566 1995
19
Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. 62 24 57
7887429 1995
20
Obesity in achondroplasia. 62 24 57
3228140 1988
21
Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. 62 24 57
3425618 1987
22
Mortality in achondroplasia. 62 24 57
3631079 1987
23
Hydrocephalus and achondroplasia. A study of 25 observations. 62 24 57
7438842 1980
24
Standard growth curves for achondroplasia. 62 24 57
690757 1978
25
Achondroplasia. 62 24 57
6023888 1967
26
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. 53 62 5
17895900 2008
27
Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. 53 62 57
14702637 2004
28
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. 53 62 57
12816345 2003
29
Restrained chondrocyte proliferation and maturation with abnormal growth plate vascularization and ossification in human FGFR-3(G380R) transgenic mice. 53 62 5
10607835 2000
30
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. 53 62 5
10587515 1999
31
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. 53 62 57
10360393 1999
32
Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. 53 62 5
7649548 1995
33
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 53 62 5
7670477 1995
34
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. 53 62 57
1670752 1991
35
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. 62 57
31269546 2019
36
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. 62 5
28230213 2017
37
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 62 5
25691418 2015
38
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 62 5
25614871 2014
39
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. 62 57
23200862 2012
40
FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. 62 5
21324899 2011
41
Physical basis behind achondroplasia, the most common form of human dwarfism. 62 5
20624921 2010
42
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal. 53 62 24
19215249 2009
43
FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway. 62 57
18923003 2009
44
Skeletal dysplasia in ancient Egypt. 62 57
19006207 2008
45
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. 62 5
17256796 2007
46
Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador. 62 57
16922718 2006
47
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 62 5
16841094 2006
48
Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. 62 5
16766665 2006
49
Dwarfs in ancient Egypt. 62 57
16380966 2006
50
Recent milestones in achondroplasia research. 62 57
16353253 2006

Variations for Achondroplasia

ClinVar genetic disease variations for Achondroplasia:

5 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic
65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
2 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic
Pathogenic
16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
3 FGFR3 NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
4 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic
Pathogenic
16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
5 FGFR3 NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic
16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
6 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic
Pathogenic
16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
7 FGFR3 NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) SNV Pathogenic
441276 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
8 FGFR3 NM_000142.5(FGFR3):c.1123G>T (p.Gly375Cys) SNV Pathogenic
16330 rs75790268 GRCh37: 4:1806104-1806104
GRCh38: 4:1804377-1804377
9 FGFR3 NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) SNV Pathogenic
16328 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
10 FGFR3 NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) SNV Pathogenic
16356 rs121913114 GRCh37: 4:1803657-1803657
GRCh38: 4:1801930-1801930
11 FGFR3 NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV Pathogenic
Pathogenic
16358 rs121913116 GRCh37: 4:1801122-1801122
GRCh38: 4:1799395-1799395
12 FGFR3 NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) SNV Pathogenic
16349 rs77722678 GRCh37: 4:1807370-1807370
GRCh38: 4:1805643-1805643
13 FGFR3 NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) SNV Pathogenic
16337 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
14 FBN1 NM_000138.5:c.(?_1317)_(1837+1_1838-1)del DEL Likely Pathogenic
1332754 GRCh37:
GRCh38:
15 LOC113939944, FBN1 NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) SNV Likely Pathogenic
803097 rs1597583989 GRCh37: 15:48812873-48812873
GRCh38: 15:48520676-48520676
16 FGFR3 NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile) SNV Likely Pathogenic
1679899 GRCh37: 4:1806164-1806164
GRCh38: 4:1804437-1804437
17 FGFR3 NM_000142.5(FGFR3):c.1144G>A (p.Gly382Ser) SNV Likely Pathogenic
1332776 GRCh37: 4:1806125-1806125
GRCh38: 4:1804398-1804398
18 FGFR3 NM_000142.5(FGFR3):c.1959+6C>T SNV Uncertain Significance
1319505 GRCh37: 4:1807906-1807906
GRCh38: 4:1806179-1806179
19 FGFR3 NM_000142.5(FGFR3):c.1606A>G (p.Lys536Glu) SNV Uncertain Significance
976434 rs1721801068 GRCh37: 4:1807357-1807357
GRCh38: 4:1805630-1805630
20 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain Significance
521225 rs139773438 GRCh37: 4:1808395-1808395
GRCh38: 4:1806668-1806668
21 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain Significance
546226 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
22 FGFR3 NM_000142.5(FGFR3):c.616-6G>A SNV Uncertain Significance
255344 rs17883400 GRCh37: 4:1803341-1803341
GRCh38: 4:1801614-1801614
23 FGFR3 NM_000142.5(FGFR3):c.989C>T (p.Thr330Ile) SNV Uncertain Significance
959789 rs1721503041 GRCh37: 4:1805477-1805477
GRCh38: 4:1803750-1803750
24 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain Significance
465350 rs764892330 GRCh37: 4:1808017-1808017
GRCh38: 4:1806290-1806290
25 FGFR3 NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) SNV Uncertain Significance
282687 rs144995231 GRCh37: 4:1801143-1801143
GRCh38: 4:1799416-1799416
26 FGFR3 NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) SNV Not Provided
585087 rs761325047 GRCh37: 4:1806615-1806615
GRCh38: 4:1804888-1804888

UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

73
# 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

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 top 50) (show all 51)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 SPP1 SOX9 MAP2K1 IGF1 FGFR3 FGFR2
2 13.72 SPP1 SOX9 PTH1R MAP2K1 IGF1 FGFR3
3
Show member pathways
13.52 MAP2K1 IGF1 FGFR3 FGFR2 FGFR1 FGF3
4
Show member pathways
12.95 SPP1 MAP2K1 IGF1 FGFR3 FGFR2 FGFR1
5
Show member pathways
12.9 COL1A1 FGF3 FGFR1 FGFR2 FGFR3 IGF1
6
Show member pathways
12.83 MAP2K1 IGF1 FGFR3 FGFR2 FGFR1
7 12.75 SPP1 MAP2K1 IGF1 FGFR3 FGFR2 FGFR1
8
Show member pathways
12.69 FGF3 FGFR1 FGFR2 FGFR3 IGF1
9
Show member pathways
12.68 MAP2K1 IGF1 FGFR3 FGFR2 FGFR1
10 12.68 FGF3 FGFR1 FGFR2 FGFR3 IGF1 MAP2K1
11
Show member pathways
12.61 MAP2K1 IGF1 FGFR3 FGFR2 FGFR1
12
Show member pathways
12.54 FGFR3 FGFR2 FGFR1 FGF3
13
Show member pathways
12.46 FGF3 FGFR1 FGFR2 FGFR3 IGF1 MAP2K1
14
Show member pathways
12.4 FGFR1 FGFR2 FGFR3 MAP2K1
15 12.4 MAP2K1 FGFR3 FGFR2 FGFR1 FGF3
16
Show member pathways
12.39 MAP2K1 FGFR3 FGFR2 FGFR1 FGF3
17
Show member pathways
12.38 MAP2K1 IGF1 FGFR3 FGFR2 FGFR1 F2RL2
18
Show member pathways
12.37 FGFR3 FGFR2 FGFR1 FGF3
19
Show member pathways
12.35 SPP1 PAPPA IGF1 FBN1
20 12.27 SPP1 MAP2K1 IGF1 COL1A1
21
Show member pathways
12.25 FGFR3 FGFR2 FGFR1 FGF3
22 12.22 MAP2K1 FGFR3 FGFR2 FGFR1
23
Show member pathways
12.21 MAP2K1 FGFR3 FGFR2 FGFR1 COL1A1
24
Show member pathways
12.19 MAP2K1 FGFR3 FGFR2 FGFR1
25
Show member pathways
12.17 SPP1 FBN1 COL1A1 ACAN
26
Show member pathways
12.14 FGFR3 FGFR2 FGFR1 FGF3
27 12.13 MAP2K1 FGFR3 FGFR2 FGFR1 FGF3
28 11.93 SOX9 FGFR3 FGFR2 FGFR1
29 11.9 MAP2K1 IGF1 COL1A1
30 11.89 SPP1 SOX9 IGF1 BGLAP ACAN
31
Show member pathways
11.83 FGFR3 FGFR2 FGFR1
32 11.82 FGFR3 FGFR2 FGFR1
33 11.8 SOX9 IGF1 FGFR3 FGFR1
34 11.73 FGFR3 FGFR2 FGFR1 FBN1 COL1A1
35 11.72 FGFR3 FGFR2 FGFR1
36 11.72 FGFR1 FGFR2 FGFR3 IGF1 MAP2K1
37
Show member pathways
11.6 SPP1 SOX9 PTH1R IGF1 FGFR3 FGFR1
38 11.57 MAP2K1 FGFR3 FGFR2
40 11.48 FGFR3 FGFR2 FGFR1
41 11.45 SPP1 FGFR3 FGFR2 FGFR1 BGLAP
42 11.43 SPP1 PTH1R COL1A1 BGLAP
43 11.4 SPP1 FBN1 COL1A1
44 11.31 SPP1 PTH1R IGF1 COL1A1 BGLAP
45 11.28 FGFR3 FGFR2 COL1A1
46 11.21 SOX9 PTH1R MAP2K1 FGFR3
47 11.19 MAP2K1 FGFR3 FGFR2 FGFR1 FGF3
49 10.91 SOX9 FGFR2
50 10.81 SPP1 MAP2K1

GO Terms for Achondroplasia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.75 SPP1 PAPPA NPPC IGF1 FGFR3 FGFR2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.32 FGF3 FGFR1 FGFR2 FGFR3 IGF1 PTH1R
2 peptidyl-tyrosine phosphorylation GO:0018108 10.14 MAP2K1 FGFR3 FGFR2 FGFR1
3 positive regulation of MAPK cascade GO:0043410 10.11 FGFR3 FGFR2 FGFR1 IGF1 MAP2K1
4 ERK1 and ERK2 cascade GO:0070371 10.05 IGF1 MAP2K1 SOX9
5 chondrocyte differentiation GO:0002062 10.04 FGFR3 PTH1R SOX9
6 cellular response to transforming growth factor beta stimulus GO:0071560 10.03 SOX9 FGFR2 FBN1 COL1A1
7 fibroblast growth factor receptor signaling pathway GO:0008543 10.01 FGFR3 FGFR2 FGFR1 FGF3
8 epithelial to mesenchymal transition GO:0001837 9.97 SOX9 IGF1 FGFR2 FGFR1
9 bone mineralization GO:0030282 9.96 FGFR2 BGLAP FGFR3 PTH1R SOX9
10 skeletal system morphogenesis GO:0048705 9.92 FGFR2 FGFR1 COL1A1
11 otic vesicle formation GO:0030916 9.86 SOX9 FGFR2
12 lacrimal gland development GO:0032808 9.85 FGFR2 SOX9
13 response to macrophage colony-stimulating factor GO:0036005 9.81 BGLAP SPP1
14 positive regulation of phospholipase activity GO:0010518 9.8 FGFR3 FGFR2 FGFR1
15 prostate gland morphogenesis GO:0060512 9.67 FGFR2 SOX9
16 skeletal system development GO:0001501 9.66 FGFR1 FGFR3 IGF1 PTH1R SHOX SOX9
17 ossification GO:0001503 9.65 BGLAP BMP8B COL1A1 NPPC PTH1R SOX9
18 cellular response to endogenous stimulus GO:0071495 9.33 FGFR3 FGFR2 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.76 MAP2K1 FGFR3 FGFR2 FGFR1
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.73 FGFR3 FGFR2 FGFR1
3 fibroblast growth factor binding GO:0017134 9.43 FGFR3 FGFR2 FGFR1
4 fibroblast growth factor receptor activity GO:0005007 9.1 FGFR3 FGFR2 FGFR1

Sources for Achondroplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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