ACH
MCID: ACH004
MIFTS: 69

Achondroplasia (ACH)

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

Aliases & Classifications for Achondroplasia

MalaCards integrated aliases for Achondroplasia:

Name: Achondroplasia 58 12 77 25 54 26 60 76 38 30 13 56 6 15 41 74
Ach 58 54 26 76
Achondroplastic Dwarfism 54 26 74
Achondroplastic Physique 12
Osteosclerosis Congenita 12
Dwarf, Achondroplastic 26
Chondrodystrophia 12

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

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


HPO:

33
achondroplasia:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is 100%; all individuals who have an fgfr3 heterozygous pathogenic variant associated with achondroplasia have the clinical manifestations of the disorder...

Classifications:



Summaries for Achondroplasia

NIH Rare Diseases : 54 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 mutations in the FGFR3 gene. Inheritance is  autosomal dominant. Treatment may include medication with growth hormone, and surgery aimed to correct the spine, or bone problems, as well, as to reduce the pressure inside the brain in cases of hydrocephaly.Prognosis with achondroplasia is good except in cases of y spinal compression at the neck.

MalaCards based summary : Achondroplasia, also known as ach, is related to hypochondroplasia and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling 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 spinal cord, and related phenotypes are macrocephaly and frontal bossing

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 : 26 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 : 58 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)

UniProtKB/Swiss-Prot : 76 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. ACH is an autosomal dominant disease.

Wikipedia : 77 Achondroplasia is a genetic disorder that results in dwarfism. In those with the condition, the arms and... 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 156)
# Related Disease Score Top Affiliating Genes
1 hypochondroplasia 32.0 SHOX NPPC FGFR3 FGFR2 FGFR1 FGF3
2 spondyloepiphyseal dysplasia with congenital joint dislocations 30.2 FGFR3 COL2A1 ACAN
3 leri-weill dyschondrosteosis 30.1 FGFR3 SHOX
4 craniosynostosis 30.0 FGFR1 FGFR2 FGFR3
5 brittle bone disorder 30.0 COL2A1 FGFR3 PTH1R
6 synostosis 30.0 FGFR1 FGFR2 FGFR3
7 spondyloepiphyseal dysplasia congenita 29.9 COL2A1 COMP FGFR3
8 crouzon syndrome 29.8 FGFR1 FGFR2 FGFR3
9 thanatophoric dysplasia, type i 29.7 PTH1R FGFR3 FGFR2 FGFR1 COMP
10 scoliosis 29.7 ACAN COL2A1 FGFR3
11 pfeiffer syndrome 29.6 FGFR1 FGFR2 FGFR3
12 diastrophic dysplasia 29.5 COL2A1 COMP
13 brachydactyly 29.4 COL2A1 COMP FGFR3
14 multiple epiphyseal dysplasia 29.4 ACAN COL2A1 COMP
15 skeletal dysplasias 29.4 PTH1R NPPC FGFR3 COMP COL2A1
16 bone disease 29.0 PTH1R FGFR3 FGFR2 COL2A1 ACAN
17 osteoarthritis 29.0 ACAN SOX9 COMP COL2A1
18 achondroplasia, severe, with developmental delay and acanthosis nigricans 12.7
19 achondroplasia and severe combined immunodeficiency 12.4
20 achondroplasia and swiss type agammaglobulinemia 12.1
21 dwarfism 11.6
22 short-limb skeletal dysplasia with severe combined immunodeficiency 11.4
23 pseudoachondroplasia 11.4
24 rhizomelic chondrodysplasia punctata, type 1 11.2
25 chondrodysplasia punctata 2, x-linked dominant 11.1
26 x-linked chondrodysplasia punctata 1 11.1
27 atelosteogenesis, type i 11.0
28 boomerang dysplasia 11.0
29 hydrocephalus, congenital, 1 11.0
30 mesomelia 11.0
31 x-linked intellectual disability, shashi type 10.9
32 hydrocephalus 10.4
33 spinal stenosis 10.3
34 acromesomelic dysplasia, maroteaux type 10.3 FGFR3 NPPC
35 sleep apnea 10.3
36 acanthosis nigricans 10.3
37 hemifacial hyperplasia 10.2 FGFR2 FGFR3
38 luteoma 10.2 FGFR2 FGFR3
39 beare-stevenson cutis gyrata syndrome 10.2 FGFR2 FGFR3
40 achondrogenesis, type ia 10.2 ACAN COL2A1
41 pectus excavatum 10.2 ACAN FGFR3
42 simpson-golabi-behmel syndrome, type 1 10.2 ACAN COL2A1
43 hypertropia 10.1 FGFR2 FGFR3
44 bone chondrosarcoma 10.1 ACAN COMP
45 porphyria, acute intermittent 10.1
46 porphyria 10.1
47 down syndrome 10.1
48 pyle disease 10.1 COL2A1 PTH1R
49 pulmonary hypertension 10.1
50 exophthalmos 10.1 FGFR2 FGFR3

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to Achondroplasia

Symptoms & Phenotypes for Achondroplasia

Human phenotypes related to Achondroplasia:

60 33 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
3 hyperlordosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003307
4 chronic otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000389
5 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
6 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
7 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
8 wormian bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0002645
9 rhizomelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008905
10 genu varum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002970
11 abnormality of the ribs 60 33 hallmark (90%) Very frequent (99-80%) HP:0000772
12 neonatal short-limb short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008921
13 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
14 hyperhidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000975
15 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
16 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
17 dental malocclusion 60 33 frequent (33%) Frequent (79-30%) HP:0000689
18 narrow chest 60 33 frequent (33%) Frequent (79-30%) HP:0000774
19 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
20 abnormal form of the vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003312
21 diaphyseal thickening 60 33 frequent (33%) Frequent (79-30%) HP:0005019
22 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
23 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
24 dental crowding 60 33 frequent (33%) Frequent (79-30%) HP:0000678
25 conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000405
26 obstructive sleep apnea 60 33 frequent (33%) Frequent (79-30%) HP:0002870
27 narrow sacroiliac notch 60 33 frequent (33%) Frequent (79-30%) HP:0008803
28 midface retrusion 60 33 frequent (33%) Frequent (79-30%) HP:0011800
29 long thorax 60 33 frequent (33%) Frequent (79-30%) HP:0100818
30 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
31 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
32 sudden cardiac death 60 33 occasional (7.5%) Occasional (29-5%) HP:0001645
33 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
34 acanthosis nigricans 60 33 occasional (7.5%) Occasional (29-5%) HP:0000956
35 elbow dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0003042
36 spinal canal stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003416
37 malar flattening 33 HP:0000272
38 megalencephaly 33 HP:0001355
39 neurological speech impairment 60 Occasional (29-5%)
40 bowing of the long bones 60 Frequent (79-30%)
41 death in infancy 60 Occasional (29-5%)
42 recurrent otitis media 33 HP:0000403
43 apnea 60 Frequent (79-30%)
44 motor delay 33 HP:0001270
45 brachydactyly 33 HP:0001156
46 abnormality of the ilium 60 Frequent (79-30%)
47 disproportionate short-limb short stature 60 Very frequent (99-80%)
48 abnormality of the elbow 60 Frequent (79-30%)
49 upper airway obstruction 33 HP:0002781
50 lumbar hyperlordosis 33 HP:0002938

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
frontal bossing
megalencephaly

Respiratory Airways:
upper airway obstruction

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

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

Head And Neck Face:
midface hypoplasia

Head And Neck Nose:
low nasal bridge

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

MGI Mouse Phenotypes related to Achondroplasia:

47 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.19 COL2A1 COMP FGF3 FGFR1 FGFR2 FGFR3
2 behavior/neurological MP:0005386 10.16 COL2A1 COMP FGF3 FGFR1 FGFR2 FGFR3
3 craniofacial MP:0005382 10.14 COL2A1 FGFR1 FGFR2 FGFR3 MAP2K1 NPPC
4 homeostasis/metabolism MP:0005376 10.11 COL2A1 COMP FGFR1 FGFR2 FGFR3 MAP2K1
5 cardiovascular system MP:0005385 10.09 COL2A1 COMP FGFR1 FGFR2 MAP2K1 PTH1R
6 digestive/alimentary MP:0005381 10.07 COL2A1 FGFR1 FGFR2 FGFR3 MAP2K1 PTH1R
7 limbs/digits/tail MP:0005371 10.06 COL2A1 COMP FGF3 FGFR1 FGFR2 FGFR3
8 embryo MP:0005380 10.05 COL2A1 FGF3 FGFR1 FGFR2 MAP2K1 PTH1R
9 hearing/vestibular/ear MP:0005377 10.02 COL2A1 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
10 mortality/aging MP:0010768 10.02 COL2A1 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
11 immune system MP:0005387 9.98 COL2A1 COMP FGFR1 FGFR2 FGFR3 PTH1R
12 nervous system MP:0003631 9.97 COL2A1 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
13 normal MP:0002873 9.86 COL2A1 COMP FGF3 FGFR1 FGFR2 FGFR3
14 reproductive system MP:0005389 9.7 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1 NPPC
15 skeleton MP:0005390 9.65 COL2A1 COMP FGF3 FGFR1 FGFR2 FGFR3
16 vision/eye MP:0005391 9.17 COL2A1 FGFR1 FGFR2 FGFR3 MAP2K1 PTH1R

Drugs & Therapeutics for Achondroplasia

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

(show all 13)
# 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
3
Resveratrol Approved, Experimental, Investigational Phase 2 501-36-0 445154
4 Antineoplastic Agents, Phytogenic Phase 2
5 Platelet Aggregation Inhibitors Phase 2
6 Antirheumatic Agents Phase 2
7 Analgesics, Non-Narcotic Phase 2
8 Protective Agents Phase 2
9 Analgesics Phase 2
10 Anti-Inflammatory Agents, Non-Steroidal Phase 2
11 Antioxidants Phase 2
12 Peripheral Nervous System Agents Phase 2
13 Anti-Inflammatory Agents Phase 2

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03424018 Phase 3 BMN 111
2 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03197766 Phase 3 BMN 111;Placebo
3 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
4 A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH) Active, not recruiting NCT02724228 Phase 2 BMN 111
5 A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia Enrolling by invitation NCT03583697 Phase 2 BMN 111;Placebo
6 Resveratrol Trial for Relief of Pain in Pseudoachondroplasia Not yet recruiting NCT03866200 Phase 2 resveratrol;Placebo
7 A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers Completed NCT01590446 Phase 1 BMN 111;Normal Saline
8 A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia Recruiting NCT03875534
9 Achondroplasia Natural History Multicenter Clinical Study Enrolling by invitation NCT02597881
10 The Norwegian Adult Achondroplasia Study Active, not recruiting NCT03780153
11 Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia. Recruiting NCT03794609
12 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
13 Lifetime Impact Study for Achondroplasia Recruiting NCT03872531
14 A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Enrolling by invitation NCT01603095
15 Lifetime Impact of Achondroplasia Study in Europe-LIAISE Recruiting NCT03449368
16 A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin Completed NCT01435629 somatropin
17 Issues Surrounding Prenatal Genetic Testing for Achondroplasia Completed NCT00001536
18 Special Survey for Long Term Application Completed NCT01516229 somatropin
19 Simultaneous Lengthening of Bilateral Femora and Tibiae in Achondroplastic Patients Completed NCT01328418 Not Applicable
20 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search NIH Clinical Center for Achondroplasia

Genetic Tests for Achondroplasia

Genetic tests related to Achondroplasia:

# Genetic test Affiliating Genes
1 Achondroplasia 30 FGFR3

Anatomical Context for Achondroplasia

MalaCards organs/tissues related to Achondroplasia:

42
Bone, Brain, Spinal Cord, Smooth Muscle, Cortex, Endothelial, Testes

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

20
Long Bone

Publications for Achondroplasia

Articles related to Achondroplasia:

(show top 50) (show all 1461)
# Title Authors Year
1
Sagittal Spinopelvic Parameters in Children With Achondroplasia. ( 30587311 )
2019
2
Achondroplasia: a comprehensive clinical review. ( 30606190 )
2019
3
Successful Surgical Therapy of Gross Thoracolumbar Kyphosis in a Boy With Achondroplasia. ( 30660888 )
2019
4
Physical, Mental, and Social Problems of Adolescent and Adult Patients with Achondroplasia. ( 30706088 )
2019
5
Height growth velocity during infancy and childhood in achondroplasia. ( 30888098 )
2019
6
Whole-body and segmental analysis of body composition in adult males with achondroplasia using dual X-ray absorptiometry. ( 30889196 )
2019
7
Current knowledge of medical complications in adults with achondroplasia: a scoping review. ( 30916780 )
2019
8
Robotic surgery in patients with achondroplastic dwarfism: evaluation of risks and issues in an anatomical challenging bilateral partial nephrectomy. ( 30673980 )
2019
9
A new species and new records of Leptogium (Ach.) Gray (Collemataceae, Peltigerales) from Rio Grande do Sul State with an identification key for the genus. ( 30785500 )
2019
10
Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth. ( 29424094 )
2018
11
The Efficacy of Brace Treatment for Thoracolumbar Kyphosis in Patients with Achondroplasia. ( 29419717 )
2018
12
Skeletal Characterization of the Fgfr3 Mouse Model of Achondroplasia Using Micro-CT and MRI Volumetric Imaging. ( 29323153 )
2018
13
Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography and circulating cell-free fetal DNA analysis. ( 29380944 )
2018
14
Growth velocity and biological variables during puberty in achondroplasia. ( 29466240 )
2018
15
Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia. ( 29652901 )
2018
16
Acanthosis nigricans in achondroplasia. ( 30380187 )
2018
17
Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia. ( 29959505 )
2018
18
Natural history of 39 patients with Achondroplasia. ( 29972438 )
2018
19
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with<i>FGFR3-</i>Related Skeletal Dysplasias. ( 29170271 )
2018
20
Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia. ( 29040558 )
2018
21
The Oxygen Consumption and Metabolic Cost of Walking and Running in Adults With Achondroplasia. ( 29720948 )
2018
22
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. ( 29360984 )
2018
23
Changes in the range of motion of the lower limb joints during extensive tibial lengthening in achondroplasia. ( 29878976 )
2018
24
Acute type A aortic dissection repair in an octogenarian with achondroplasia: a case report. ( 29884976 )
2018
25
Piloting and psychometric properties of a patient-reported outcome instrument for young people with achondroplasia based on the International Classification of Functioning Disability and Health: the Achondroplasia Personal Life Experience Scale (APLES). ( 29516753 )
2018
26
Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine? ( 29872110 )
2018
27
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival. ( 29681095 )
2018
28
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort. ( 30070757 )
2018
29
Morphological and Mechanical Properties of the Human Patella Tendon in Adult Males With Achondroplasia. ( 30079026 )
2018
30
Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association. ( 30087777 )
2018
31
Achondroplasia With Congenital Onset Glaucoma, and Presumed Axenfeld-Rieger Anomaly. ( 30095606 )
2018
32
Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length. ( 30152086 )
2018
33
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants. ( 30160829 )
2018
34
Multicenter study of mortality in achondroplasia. ( 30276962 )
2018
35
Achondroplasia: Orocraniofacial Features and Orthodontic-Surgical Management Guidelines Proposal. ( 30277952 )
2018
36
Growth Hormone Treatment for Achondroplasia. ( 30378790 )
2018
37
Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia. ( 30381765 )
2018
38
Mesenchymal stem cells as adjuvant therapy for limb lengthening in achondroplasia. ( 30444751 )
2018
39
A quantitative description of self-selected walking in adults with Achondroplasia using the gait profile score. ( 30476692 )
2018
40
Optimizing CRISPR/Cas9 technology for precise correction of the Fgfr3-Gly374Arg mutation in achondroplasia in mice. ( 30487289 )
2018
41
Sustained hip flexion contracture after femoral lengthening in patients with achondroplasia. ( 30497473 )
2018
42
Surgical technique and outcomes for bilateral humeral lengthening for achondroplasia: 26-year experience. ( 30536224 )
2018
43
Screening and surgery for foramen magnum stenosis in children with achondroplasia: a large, national database analysis. ( 30554178 )
2018
44
Influence of ATD versus PMHS reference sensor inputs on computational brain response in frontal impacts to advanced combat helmet (ACH). ( 30841804 )
2018
45
Nicotinic ACh receptor α7 inhibits PDGF-induced migration of vascular smooth muscle cells by activating mitochondrial deacetylase sirtuin 3. ( 30270436 )
2018
46
The voltage-sensitive cardiac M2 muscarinic receptor modulates the inward rectification of the G protein-coupled, ACh-gated K+ current. ( 30155776 )
2018
47
β-1,3/1,4-Glucan Lichenan from Cetraria islandica (L.) ACH. induces cellular differentiation of human keratinocytes. ( 30031897 )
2018
48
Synergistic Effects of Dantrolene and Nimodipine on the Phenylephrine-Induced Contraction and ACh-Induced Relaxation in Aortic Rings from Diabetic Rats. ( 29849627 )
2018
49
Novel long-acting antagonists of muscarinic ACh receptors. ( 29498041 )
2018
50
Endogenous purines modulate K+ -evoked ACh secretion at the mouse neuromuscular junction. ( 29436006 )
2018

Variations for Achondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

76
# 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 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.1130T> G (p.Leu377Arg) single nucleotide variant no interpretation for the single variant rs267606809 GRCh38 Chromosome 4, 1804384: 1804384
2 FGFR3 NM_000142.4(FGFR3): c.1130T> G (p.Leu377Arg) single nucleotide variant no interpretation for the single variant rs267606809 GRCh37 Chromosome 4, 1806111: 1806111
3 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh38 Chromosome 4, 1801930: 1801930
4 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh37 Chromosome 4, 1803657: 1803657
5 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
6 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
7 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
8 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
9 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh38 Chromosome 4, 1801837: 1801837
10 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
11 FGFR3 NM_000142.4(FGFR3): c.1123G> T (p.Gly375Cys) single nucleotide variant Pathogenic rs75790268 GRCh38 Chromosome 4, 1804377: 1804377
12 FGFR3 NM_000142.4(FGFR3): c.1123G> T (p.Gly375Cys) single nucleotide variant Pathogenic rs75790268 GRCh37 Chromosome 4, 1806104: 1806104
13 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
14 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
15 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
16 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
17 FGFR3 NM_000142.4(FGFR3): c.1331C> T (p.Ser444Phe) single nucleotide variant not provided GRCh38 Chromosome 4, 1804888: 1804888
18 FGFR3 NM_000142.4(FGFR3): c.1331C> T (p.Ser444Phe) single nucleotide variant not provided GRCh37 Chromosome 4, 1806615: 1806615

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 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 ACAN COL2A1 FGFR1 FGFR2 FGFR3 MAP2K1
2
Show member pathways
12.88 ACAN COL2A1 FGFR1 FGFR2 FGFR3 MAP2K1
3
Show member pathways
12.72 FGFR1 FGFR2 FGFR3 MAP2K1
4
Show member pathways
12.72 FGF3 FGFR1 FGFR2 FGFR3
5 12.71 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
6
Show member pathways
12.64 FGF3 FGFR1 FGFR2 MAP2K1
7
Show member pathways
12.64 COL2A1 COMP FGF3 FGFR1 FGFR2 FGFR3
8 12.63 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
9
Show member pathways
12.6 FGF3 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.59 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
11
Show member pathways
12.57 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
12 12.42 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
13
Show member pathways
12.4 FGFR1 FGFR2 FGFR3 MAP2K1
14
Show member pathways
12.33 FGFR1 FGFR2 FGFR3 MAP2K1
15
Show member pathways
12.3 FGF3 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.29 FGF3 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.27 FGFR1 FGFR2 FGFR3 MAP2K1
18
Show member pathways
12.21 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
19
Show member pathways
12.17 FGF3 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.1 FGFR1 FGFR2 FGFR3 MAP2K1
21
Show member pathways
12.09 FGFR1 FGFR2 FGFR3 MAP2K1
22
Show member pathways
12.02 FGF3 FGFR1 FGFR2 FGFR3
23 12.01 FGFR1 FGFR2 FGFR3
24 12.01 FGFR1 FGFR2 FGFR3
25
Show member pathways
11.96 FGFR1 FGFR2 FGFR3 MAP2K1
26 11.91 ACAN COL2A1 SOX9
27 11.88 FGFR1 FGFR2 FGFR3 MAP2K1
28 11.85 FGFR1 MAP2K1 PTH1R
29 11.76 FGFR1 FGFR2 FGFR3
30 11.7 FGFR1 FGFR3 SOX9
31 11.63 FGFR1 FGFR2 FGFR3 MAP2K1
32 11.56 COL2A1 FGFR1 FGFR2 FGFR3 SOX9
33 11.44 FGFR1 FGFR2 FGFR3 MAP2K1
34 11.39 FGFR1 FGFR2 FGFR3
35 11.3 FGFR1 FGFR2 FGFR3 MAP2K1
36 11.23 ACAN COL2A1 COMP
37 10.99 FGFR1 MAP2K1
38 10.99 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
39 10.92 FGF3 FGFR1 FGFR2 FGFR3
40 10.91 ACAN COL2A1 FGFR1 FGFR3 PTH1R SOX9
41 10.75 ACAN COL2A1 FGFR1 FGFR2 FGFR3 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 matrix GO:0031012 9.33 ACAN COL2A1 COMP
2 receptor complex GO:0043235 9.26 FGFR1 FGFR2 FGFR3 PTH1R
3 extracellular region GO:0005576 9.23 ACAN COL2A1 COMP FGF3 FGFR1 FGFR2

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.97 MAP2K1 NPPC PTH1R SOX9
2 positive regulation of cell proliferation GO:0008284 9.95 FGF3 FGFR1 FGFR2 FGFR3 PTH1R SOX9
3 extracellular matrix organization GO:0030198 9.89 ACAN COL2A1 COMP SOX9
4 regulation of gene expression GO:0010468 9.88 COL2A1 COMP FGFR1
5 protein autophosphorylation GO:0046777 9.86 FGFR1 FGFR2 FGFR3
6 positive regulation of protein kinase B signaling GO:0051897 9.86 FGF3 FGFR1 FGFR2 FGFR3
7 positive regulation of MAPK cascade GO:0043410 9.85 FGFR1 FGFR2 FGFR3
8 central nervous system development GO:0007417 9.84 ACAN COL2A1 SOX9
9 phosphatidylinositol phosphorylation GO:0046854 9.81 FGF3 FGFR1 FGFR2 FGFR3
10 MAPK cascade GO:0000165 9.8 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
11 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.79 FGFR2 FGFR3 MAP2K1
12 inner ear morphogenesis GO:0042472 9.79 COL2A1 FGFR1 FGFR2
13 ossification GO:0001503 9.76 COL2A1 NPPC PTH1R SOX9
14 skeletal system morphogenesis GO:0048705 9.75 COL2A1 FGFR1 FGFR2
15 fibroblast growth factor receptor signaling pathway GO:0008543 9.73 FGF3 FGFR1 FGFR2 FGFR3
16 bone mineralization GO:0030282 9.72 FGFR2 FGFR3 PTH1R
17 peptidyl-tyrosine phosphorylation GO:0018108 9.72 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
18 cell maturation GO:0048469 9.7 FGFR1 PTH1R
19 cellular response to BMP stimulus GO:0071773 9.7 COL2A1 SOX9
20 midbrain development GO:0030901 9.7 FGFR1 FGFR2
21 positive regulation of mesenchymal cell proliferation GO:0002053 9.7 FGFR1 FGFR2 SOX9
22 bone morphogenesis GO:0060349 9.69 FGFR2 FGFR3
23 regulation of multicellular organism growth GO:0040014 9.69 FGFR2 NPPC
24 ERK1 and ERK2 cascade GO:0070371 9.69 MAP2K1 SOX9
25 endochondral ossification GO:0001958 9.68 COL2A1 FGFR3
26 cell differentiation GO:0030154 9.68 FGF3 SOX9
27 tissue homeostasis GO:0001894 9.68 COL2A1 SOX9
28 chondrocyte development GO:0002063 9.67 ACAN SOX9
29 cartilage condensation GO:0001502 9.67 ACAN COL2A1 SOX9
30 branching involved in salivary gland morphogenesis GO:0060445 9.66 FGFR1 FGFR2
31 notochord development GO:0030903 9.65 COL2A1 SOX9
32 mesenchymal cell differentiation GO:0048762 9.65 FGFR1 FGFR2
33 lung-associated mesenchyme development GO:0060484 9.65 FGFR1 FGFR2
34 endochondral bone growth GO:0003416 9.64 FGFR2 FGFR3
35 lacrimal gland development GO:0032808 9.64 FGFR2 SOX9
36 otic vesicle development GO:0071599 9.63 COL2A1 SOX9
37 otic vesicle formation GO:0030916 9.63 FGFR2 SOX9
38 negative regulation of apoptotic process GO:0043066 9.62 COMP SOX9
39 anterior head development GO:0097065 9.61 COL2A1 SOX9
40 prostate gland morphogenesis GO:0060512 9.6 FGFR2 SOX9
41 orbitofrontal cortex development GO:0021769 9.58 FGFR1 FGFR2
42 ventricular zone neuroblast division GO:0021847 9.57 FGFR1 FGFR2
43 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.56 FGF3 FGFR1 FGFR2 FGFR3
44 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.54 FGFR1 FGFR2
45 limb bud formation GO:0060174 9.54 COL2A1 FGFR2 SOX9
46 chondrocyte differentiation GO:0002062 9.35 COL2A1 FGFR1 FGFR3 PTH1R SOX9
47 positive regulation of phospholipase activity GO:0010518 9.33 FGFR1 FGFR2 FGFR3
48 skeletal system development GO:0001501 9.23 ACAN COL2A1 COMP FGFR1 FGFR3 PTH1R

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.8 FGFR1 FGFR2 FGFR3 MAP2K1
2 protein kinase activity GO:0004672 9.76 FGFR1 FGFR2 FGFR3 MAP2K1
3 heparin binding GO:0008201 9.69 COMP FGFR1 FGFR2
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.67 FGF3 FGFR1 FGFR2 FGFR3
5 extracellular matrix structural constituent GO:0005201 9.65 ACAN COL2A1 COMP
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 FGFR1 FGFR2 FGFR3
7 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.56 FGF3 FGFR1 FGFR2 FGFR3
8 protein tyrosine kinase activity GO:0004713 9.55 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
9 fibroblast growth factor binding GO:0017134 9.5 FGFR1 FGFR2 FGFR3
10 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF3 FGFR1 FGFR2 FGFR3
11 transmembrane signaling receptor activity GO:0004888 9.13 PTH1R
12 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....