ACH
MCID: ACH004
MIFTS: 68

Achondroplasia (ACH)

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

Aliases & Classifications for Achondroplasia

MalaCards integrated aliases for Achondroplasia:

Name: Achondroplasia 57 12 76 24 53 25 59 75 37 29 13 55 6 15 40 73
Ach 57 53 25 75
Achondroplastic Dwarfism 53 25 73
Achondroplastic Physique 12
Osteosclerosis Congenita 12
Dwarf, Achondroplastic 25
Chondrodystrophia 12

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

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


HPO:

32
achondroplasia:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance


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:



Summaries for Achondroplasia

NIH Rare Diseases : 53 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 TGF-Beta Pathway. The drugs Natriuretic Peptide, C-Type and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and spinal cord, and related phenotypes are macrocephaly and obesity

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

Genetics Home Reference : 25 Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.

OMIM : 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 145)
# Related Disease Score Top Affiliating Genes
1 hypochondroplasia 32.2 SHOX NPPC FGFR3 FGFR2 FGFR1 FGF3
2 spondyloepiphyseal dysplasia with congenital joint dislocations 30.3 FGFR3 ACAN
3 osteochondrodysplasia 30.0 SOX9 PTH1R FGFR3
4 craniosynostosis 30.0 FGFR3 FGFR2 FGFR1
5 synostosis 29.9 FGFR3 FGFR2 FGFR1
6 thanatophoric dysplasia, type i 29.9 PTH1R FGFR3 FGFR2 FGFR1 COMP
7 leri-weill dyschondrosteosis 29.9 SHOX FGFR3
8 skeletal dysplasias 29.8 PTH1R NPPC FGFR3 COMP
9 crouzon syndrome 29.8 FGFR3 FGFR2 FGFR1
10 osteoarthritis 29.6 SOX9 COMP ACAN
11 pfeiffer syndrome 29.5 FGFR3 FGFR2 FGFR1
12 bone disease 29.4 PTH1R FGFR3 FGFR2 ACAN
13 achondroplasia, severe, with developmental delay and acanthosis nigricans 12.7
14 achondroplasia and severe combined immunodeficiency 12.3
15 achondroplasia and swiss type agammaglobulinemia 12.1
16 dwarfism 11.6
17 short-limb skeletal dysplasia with severe combined immunodeficiency 11.4
18 pseudoachondroplasia 11.4
19 rhizomelic chondrodysplasia punctata, type 1 11.2
20 chondrodysplasia punctata 2, x-linked dominant 11.0
21 x-linked chondrodysplasia punctata 1 11.0
22 atelosteogenesis, type i 11.0
23 boomerang dysplasia 11.0
24 hydrocephalus, congenital, 1 11.0
25 mesomelia 11.0
26 hydrocephalus 10.3
27 spinal stenosis 10.3
28 sleep apnea 10.3
29 acanthosis nigricans 10.2
30 acromesomelic dysplasia, maroteaux type 10.2 NPPC FGFR3
31 porphyria, acute intermittent 10.1
32 porphyria 10.1
33 pectus excavatum 10.1 FGFR3 ACAN
34 hemifacial hyperplasia 10.1 FGFR3 FGFR2
35 metaphyseal chondrodysplasia, jansen type 10.1 PTH1R FGFR3
36 down syndrome 10.1
37 luteoma 10.1 FGFR3 FGFR2
38 beare-stevenson cutis gyrata syndrome 10.1 FGFR3 FGFR2
39 chondroblastoma 10.1 SOX9 PTH1R
40 hypertropia 10.1 FGFR3 FGFR2
41 spondyloepiphyseal dysplasia congenita 10.1
42 pulmonary hypertension 10.1
43 exophthalmos 10.0 FGFR3 FGFR2
44 chondromyxoid fibroma 10.0 SOX9 PTH1R FGFR3
45 bone deterioration disease 10.0 SOX9 ACAN
46 osteochondroma 10.0 FGFR3 FGFR1
47 bladder urothelial carcinoma 10.0 MAP2K1 FGFR3 FGFR1
48 osteopetrosis 10.0
49 bone chondrosarcoma 10.0 COMP ACAN
50 brittle bone disorder 10.0

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to Achondroplasia

Symptoms & Phenotypes for Achondroplasia

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Achondroplasia:

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
3 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
4 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
5 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
8 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
9 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
10 hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003307
11 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
12 dental malocclusion 59 32 frequent (33%) Frequent (79-30%) HP:0000689
13 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
14 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
15 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
16 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
17 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
18 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
19 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
20 wormian bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002645
21 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
22 diaphyseal thickening 59 32 frequent (33%) Frequent (79-30%) HP:0005019
23 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
24 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
25 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
26 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
27 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
28 elbow dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003042
29 genu varum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002970
30 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
31 spinal canal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003416
32 obstructive sleep apnea 59 32 frequent (33%) Frequent (79-30%) HP:0002870
33 narrow sacroiliac notch 59 32 frequent (33%) Frequent (79-30%) HP:0008803
34 neonatal short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008921
35 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
36 long thorax 59 32 frequent (33%) Frequent (79-30%) HP:0100818
37 malar flattening 32 HP:0000272
38 megalencephaly 32 HP:0001355
39 neurological speech impairment 59 Occasional (29-5%)
40 bowing of the long bones 59 Frequent (79-30%)
41 death in infancy 59 Occasional (29-5%)
42 recurrent otitis media 32 HP:0000403
43 apnea 59 Frequent (79-30%)
44 motor delay 32 HP:0001270
45 brachydactyly 32 HP:0001156
46 abnormality of the ilium 59 Frequent (79-30%)
47 disproportionate short-limb short stature 59 Very frequent (99-80%)
48 abnormality of the elbow 59 Frequent (79-30%)
49 upper airway obstruction 32 HP:0002781
50 lumbar hyperlordosis 32 HP:0002938

MGI Mouse Phenotypes related to Achondroplasia:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.09 COMP FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
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 nervous system MP:0003631 9.92 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1 NPPC
7 hearing/vestibular/ear MP:0005377 9.88 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1 SOX9
8 normal MP:0002873 9.8 COMP FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
9 reproductive system MP:0005389 9.7 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1 NPPC
10 skeleton MP:0005390 9.61 COMP FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
11 vision/eye MP:0005391 9.1 FGFR1 FGFR2 FGFR3 MAP2K1 PTH1R SOX9

Drugs & Therapeutics for Achondroplasia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Natriuretic Peptide, C-Type Phase 3,Phase 2
2 Natriuretic Agents Phase 3,Phase 2

Interventional clinical trials:

(show all 17)
# 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 Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH) Active, not recruiting NCT02724228 Phase 2 BMN 111
4 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 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 A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers Completed NCT01590446 Phase 1 BMN 111;Normal Saline
7 Achondroplasia Natural History Multicenter Clinical Study Enrolling by invitation NCT02597881
8 Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia. Recruiting NCT03794609
9 The Norwegian Adult Achondroplasia Study Recruiting NCT03780153
10 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
11 A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Enrolling by invitation NCT01603095
12 Lifetime Impact of Achondroplasia Study in Europe-LIAISE Recruiting NCT03449368
13 A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin Completed NCT01435629 somatropin
14 Issues Surrounding Prenatal Genetic Testing for Achondroplasia Completed NCT00001536
15 Special Survey for Long Term Application Completed NCT01516229 somatropin
16 Simultaneous Lengthening of Bilateral Femora and Tibiae in Achondroplastic Patients Completed NCT01328418 Not Applicable
17 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 29 FGFR3

Anatomical Context for Achondroplasia

MalaCards organs/tissues related to Achondroplasia:

41
Bone, Brain, Spinal Cord, Smooth Muscle, Lung, Heart, Testes

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

19
Long Bone

Publications for Achondroplasia

Articles related to Achondroplasia:

(show top 50) (show all 1449)
# Title Authors Year
1
Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth. ( 29424094 )
2018
2
The Efficacy of Brace Treatment for Thoracolumbar Kyphosis in Patients with Achondroplasia. ( 29419717 )
2018
3
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
4
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. ( 29360984 )
2018
5
Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography and circulating cell-free fetal DNA analysis. ( 29380944 )
2018
6
Growth velocity and biological variables during puberty in achondroplasia. ( 29466240 )
2018
7
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival. ( 29681095 )
2018
8
Acanthosis nigricans in achondroplasia. ( 30380187 )
2018
9
Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia. ( 29652901 )
2018
10
Natural history of 39 patients with Achondroplasia. ( 29972438 )
2018
11
Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia. ( 29959505 )
2018
12
Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia. ( 29040558 )
2018
13
The Oxygen Consumption and Metabolic Cost of Walking and Running in Adults With Achondroplasia. ( 29720948 )
2018
14
Changes in the range of motion of the lower limb joints during extensive tibial lengthening in achondroplasia. ( 29878976 )
2018
15
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with<i>FGFR3-</i>Related Skeletal Dysplasias. ( 29170271 )
2018
16
Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine? ( 29872110 )
2018
17
Skeletal Characterization of the Fgfr3 Mouse Model of Achondroplasia Using Micro-CT and MRI Volumetric Imaging. ( 29323153 )
2018
18
Humeral lengthening in patients with achondroplasia and in patients with post-septic shortening: comparison of procedure efficiency and safety. ( 28889181 )
2018
19
Specific force of the vastus lateralis in adults with achondroplasia. ( 29146686 )
2018
20
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort. ( 30070757 )
2018
21
Morphological and Mechanical Properties of the Human Patella Tendon in Adult Males With Achondroplasia. ( 30079026 )
2018
22
Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association. ( 30087777 )
2018
23
Achondroplasia With Congenital Onset Glaucoma, and Presumed Axenfeld-Rieger Anomaly. ( 30095606 )
2018
24
Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length. ( 30152086 )
2018
25
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants. ( 30160829 )
2018
26
Multicenter study of mortality in achondroplasia. ( 30276962 )
2018
27
Achondroplasia: Orocraniofacial Features and Orthodontic-Surgical Management Guidelines Proposal. ( 30277952 )
2018
28
Growth Hormone Treatment for Achondroplasia. ( 30378790 )
2018
29
Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia. ( 30381765 )
2018
30
Mesenchymal stem cells as adjuvant therapy for limb lengthening in achondroplasia. ( 30444751 )
2018
31
A quantitative description of self-selected walking in adults with Achondroplasia using the gait profile score. ( 30476692 )
2018
32
Optimizing CRISPR/Cas9 technology for precise correction of the Fgfr3-Gly374Arg mutation in achondroplasia in mice. ( 30487289 )
2018
33
Sustained hip flexion contracture after femoral lengthening in patients with achondroplasia. ( 30497473 )
2018
34
Acute type A aortic dissection repair in an octogenarian with achondroplasia: a case report. ( 29884976 )
2018
35
Surgical technique and outcomes for bilateral humeral lengthening for achondroplasia: 26-year experience. ( 30536224 )
2018
36
Screening and surgery for foramen magnum stenosis in children with achondroplasia: a large, national database analysis. ( 30554178 )
2018
37
A case of facioscapulohumeral muscular dystrophy and myasthenia gravis with positivity of anti-Ach receptor antibody: a fortuitous association? ( 30215155 )
2018
38
Nicotinic ACh receptor α7 inhibits PDGF-induced migration of vascular smooth muscle cells by activating mitochondrial deacetylase sirtuin 3. ( 30270436 )
2018
39
Hippocampal α7 nicotinic ACh receptors contribute to modulation of depression-like behaviour in C57BL/6J mice. ( 28264149 )
2018
40
Persistent activation of α7 nicotinic ACh receptors associated with stable induction of different desensitized states. ( 28477386 )
2018
41
The fifth subunit of the (α4β2)2 β2 nicotinic ACh receptor modulates maximal ACh responses. ( 28600847 )
2018
42
Comparison of the effects of IK,ACh, IKr, and INa block in conscious dogs with atrial fibrillation and on action potentials in remodeled atrial trabeculae. ( 28892643 )
2018
43
Muscarinic type-1 receptors contribute to IK,ACh in human atrial cardiomyocytes and are upregulated in patients with chronic atrial fibrillation. ( 29290419 )
2018
44
Streptomyces AcH 505 triggers production of a salicylic acid analogue in the fungal pathogen Heterobasidion abietinum that enhances infection of Norway spruce seedlings. ( 29350358 )
2018
45
Endogenous purines modulate K+ -evoked ACh secretion at the mouse neuromuscular junction. ( 29436006 )
2018
46
Novel long-acting antagonists of muscarinic ACh receptors. ( 29498041 )
2018
47
Synergistic Effects of Dantrolene and Nimodipine on the Phenylephrine-Induced Contraction and ACh-Induced Relaxation in Aortic Rings from Diabetic Rats. ( 29849627 )
2018
48
β-1,3/1,4-Glucan Lichenan from Cetraria islandica (L.) ACH. induces cellular differentiation of human keratinocytes. ( 30031897 )
2018
49
The voltage-sensitive cardiac M2 muscarinic receptor modulates the inward rectification of the G protein-coupled, ACh-gated K+ current. ( 30155776 )
2018
50
Successful obstetric and anaesthetic management of a pregnant woman with achondroplasia. ( 29070618 )
2017

Variations for Achondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

75
# 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.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh37 Chromosome 4, 1803657: 1803657
2 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh38 Chromosome 4, 1801930: 1801930
3 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
4 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
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 Pathogenic rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
16 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
17 FGFR3 NM_000142.4(FGFR3): c.1331C> T (p.Ser444Phe) single nucleotide variant not provided rs761325047 GRCh38 Chromosome 4, 1804888: 1804888
18 FGFR3 NM_000142.4(FGFR3): c.1331C> T (p.Ser444Phe) single nucleotide variant not provided rs761325047 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 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 ACAN BMP8B FGFR1 FGFR2 FGFR3 MAP2K1
2
Show member pathways
13.39 BMP8B FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
3
Show member pathways
12.94 ACAN FGFR1 FGFR2 FGFR3 MAP2K1
4
Show member pathways
12.72 FGFR1 FGFR2 FGFR3 MAP2K1
5
Show member pathways
12.72 COMP FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
6
Show member pathways
12.71 FGF3 FGFR1 FGFR2 FGFR3
7 12.7 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
8
Show member pathways
12.64 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
9
Show member pathways
12.63 FGF3 FGFR1 FGFR2 MAP2K1
10 12.62 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
11
Show member pathways
12.6 FGF3 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.58 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
13
Show member pathways
12.47 FGF3 FGFR1 FGFR2 FGFR3
14 12.42 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
15
Show member pathways
12.39 FGFR1 FGFR2 FGFR3 MAP2K1
16
Show member pathways
12.33 FGFR1 FGFR2 FGFR3 MAP2K1
17
Show member pathways
12.29 FGF3 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.28 FGF3 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.27 FGFR1 FGFR2 FGFR3 MAP2K1
20
Show member pathways
12.16 FGF3 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.13 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
22
Show member pathways
12.1 FGFR1 FGFR2 FGFR3 MAP2K1
23
Show member pathways
12.08 FGFR1 FGFR2 FGFR3 MAP2K1
24 12.01 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.01 FGF3 FGFR1 FGFR2 FGFR3
26 12 FGFR1 FGFR2 FGFR3
27
Show member pathways
11.89 BMP8B FGFR1 FGFR2 FGFR3 MAP2K1
28 11.88 FGFR1 FGFR2 FGFR3 MAP2K1
29 11.85 FGFR1 MAP2K1 PTH1R
30 11.76 FGFR1 FGFR2 FGFR3
31 11.7 FGFR1 FGFR3 SOX9
32 11.68 FGFR1 FGFR2 FGFR3 SOX9
33 11.63 FGFR1 FGFR2 FGFR3 MAP2K1
34 11.38 FGFR1 FGFR2 FGFR3
35 11.3 FGFR1 FGFR2 FGFR3 MAP2K1
36 11.27 FGFR1 FGFR2 FGFR3 MAP2K1
37 11.24 ACAN COMP
38 11.17 ACAN FGFR1 FGFR3 PTH1R SOX9
39 10.98 FGFR1 MAP2K1
40 10.94 FGF3 FGFR1 FGFR2 FGFR3
41 10.64 ACAN BMP8B FGFR1 FGFR2 FGFR3 MAP2K1
42 10.64 FGF3 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 receptor complex GO:0043235 9.26 FGFR1 FGFR2 FGFR3 PTH1R
2 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 41)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.99 COMP FGFR1 FGFR2 FGFR3 SOX9
2 negative regulation of cell proliferation GO:0008285 9.95 MAP2K1 NPPC PTH1R SOX9
3 positive regulation of cell proliferation GO:0008284 9.93 FGF3 FGFR1 FGFR2 FGFR3 PTH1R SOX9
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.88 FGFR1 FGFR2 FGFR3 MAP2K1
5 extracellular matrix organization GO:0030198 9.85 ACAN COMP SOX9
6 positive regulation of protein kinase B signaling GO:0051897 9.84 FGF3 FGFR1 FGFR2 FGFR3
7 protein autophosphorylation GO:0046777 9.83 FGFR1 FGFR2 FGFR3
8 positive regulation of MAPK cascade GO:0043410 9.82 FGFR1 FGFR2 FGFR3
9 negative regulation of signal transduction GO:0009968 9.81 FGFR1 FGFR2 FGFR3
10 phosphatidylinositol phosphorylation GO:0046854 9.78 FGF3 FGFR1 FGFR2 FGFR3
11 MAPK cascade GO:0000165 9.77 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
12 ossification GO:0001503 9.73 BMP8B NPPC PTH1R SOX9
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 bone mineralization GO:0030282 9.7 FGFR2 FGFR3 PTH1R
16 epithelial to mesenchymal transition GO:0001837 9.68 FGFR2 SOX9
17 positive regulation of cardiac muscle cell proliferation GO:0060045 9.68 FGFR1 FGFR2
18 cell maturation GO:0048469 9.68 FGFR1 PTH1R
19 midbrain development GO:0030901 9.68 FGFR1 FGFR2
20 bone morphogenesis GO:0060349 9.67 FGFR2 FGFR3
21 regulation of multicellular organism growth GO:0040014 9.67 FGFR2 NPPC
22 positive regulation of mesenchymal cell proliferation GO:0002053 9.67 FGFR1 FGFR2 SOX9
23 ERK1 and ERK2 cascade GO:0070371 9.66 MAP2K1 SOX9
24 cartilage condensation GO:0001502 9.65 ACAN SOX9
25 chondrocyte development GO:0002063 9.64 ACAN SOX9
26 branching involved in salivary gland morphogenesis GO:0060445 9.63 FGFR1 FGFR2
27 limb bud formation GO:0060174 9.63 FGFR2 SOX9
28 mesenchymal cell differentiation GO:0048762 9.62 FGFR1 FGFR2
29 lung-associated mesenchyme development GO:0060484 9.62 FGFR1 FGFR2
30 endochondral bone growth GO:0003416 9.61 FGFR2 FGFR3
31 lacrimal gland development GO:0032808 9.61 FGFR2 SOX9
32 otic vesicle formation GO:0030916 9.6 FGFR2 SOX9
33 prostate gland morphogenesis GO:0060512 9.58 FGFR2 SOX9
34 orbitofrontal cortex development GO:0021769 9.56 FGFR1 FGFR2
35 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.56 FGF3 FGFR1 FGFR2 FGFR3
36 ventricular zone neuroblast division GO:0021847 9.55 FGFR1 FGFR2
37 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.51 FGFR1 FGFR2
38 positive regulation of phospholipase activity GO:0010518 9.33 FGFR1 FGFR2 FGFR3
39 chondrocyte differentiation GO:0002062 9.26 FGFR1 FGFR3 PTH1R SOX9
40 skeletal system development GO:0001501 9.23 ACAN BMP8B COMP FGFR1 FGFR3 PTH1R
41 cell differentiation GO:0030154 10.04 BMP8B FGF3 FGFR1 FGFR2 FGFR3 SOX9

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.85 FGFR1 FGFR2 FGFR3 MAP2K1 SOX9
2 nucleotide binding GO:0000166 9.78 FGFR1 FGFR2 FGFR3 MAP2K1
3 transmembrane signaling receptor activity GO:0004888 9.73 FGFR1 FGFR2 FGFR3 PTH1R
4 heparin binding GO:0008201 9.67 COMP FGFR1 FGFR2
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.67 FGF3 FGFR1 FGFR2 FGFR3
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 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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