ACH
MCID: ACH004
MIFTS: 66

Achondroplasia (ACH)

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal 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 44 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 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 obesity

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.

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.

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

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 136)
# Related Disease Score Top Affiliating Genes
1 hypochondroplasia 30.6 FGF3 FGFR1 FGFR2 FGFR3 NPPC SHOX
2 spondyloepiphyseal dysplasia with congenital joint dislocations 30.2 ACAN FGFR3
3 leri-weill dyschondrosteosis 30.2 FGFR3 SHOX
4 craniosynostosis 29.5 FGFR1 FGFR2 FGFR3
5 synostosis 29.5 FGFR1 FGFR2 FGFR3
6 crouzon syndrome 29.4 FGFR1 FGFR2 FGFR3
7 pfeiffer syndrome 29.1 FGFR1 FGFR2 FGFR3
8 bone disease 28.8 ACAN FGFR2 FGFR3 PTH1R
9 osteoarthritis 28.6 ACAN COMP SOX9
10 skeletal dysplasias 28.3 COMP FGFR3 NPPC PTH1R SOX9
11 thanatophoric dysplasia, type i 28.1 COMP FGFR1 FGFR2 FGFR3 PTH1R
12 achondroplasia, severe, with developmental delay and acanthosis nigricans 12.6
13 achondroplasia and severe combined immunodeficiency 12.2
14 achondroplasia and swiss type agammaglobulinemia 11.9
15 dwarfism 11.4
16 short-limb skeletal dysplasia with severe combined immunodeficiency 11.2
17 pseudoachondroplasia 11.2
18 rhizomelic chondrodysplasia punctata, type 1 11.0
19 chondrodysplasia punctata 2, x-linked dominant 10.9
20 x-linked chondrodysplasia punctata 10.9
21 atelosteogenesis, type i 10.9
22 boomerang dysplasia 10.9
23 hydrocephalus, nonsyndromic, autosomal recessive 1 10.9
24 mesomelia 10.9
25 acromesomelic dysplasia, maroteaux type 10.6 FGFR3 NPPC
26 metaphyseal chondrodysplasia, jansen type 10.4 FGFR3 PTH1R
27 hemifacial hyperplasia 10.4 FGFR2 FGFR3
28 pectus excavatum 10.3 ACAN FGFR3
29 luteoma 10.3 FGFR2 FGFR3
30 beare-stevenson cutis gyrata syndrome 10.3 FGFR2 FGFR3
31 aging 10.2
32 cervicitis 10.1
33 hypertropia 10.1 FGFR2 FGFR3
34 chondromyxoid fibroma 10.1 FGFR3 PTH1R SOX9
35 sleep apnea 10.1
36 sleep disorder 10.1
37 exophthalmos 10.1 FGFR2 FGFR3
38 osteochondrodysplasia 10.1 FGFR3 PTH1R SOX9
39 apnea, obstructive sleep 10.1
40 spinal stenosis 10.1
41 bladder urothelial carcinoma 10.1 FGFR1 FGFR3 MAP2K1
42 acanthosis nigricans 10.1
43 radioulnar synostosis 10.0 FGFR1 FGFR2
44 hydrocephalus 10.0
45 atelosteogenesis 10.0 COMP FGFR3
46 synovial chondromatosis 10.0 FGFR1 FGFR3 SOX9
47 down syndrome 10.0
48 47, xxy 10.0
49 cartilage disease 9.9 ACAN COMP
50 transient arthritis 9.9 ACAN COMP

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 brachydactyly 32 HP:0001156
45 abnormality of the ilium 59 Frequent (79-30%)
46 disproportionate short-limb short stature 59 Very frequent (99-80%)
47 abnormality of the elbow 59 Frequent (79-30%)
48 motor delay 32 HP:0001270
49 upper airway obstruction 32 HP:0002781
50 lumbar hyperlordosis 32 HP:0002938

MGI Mouse Phenotypes related to Achondroplasia:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.09 FGF3 FGFR3 FGFR1 MAP2K1 FGFR2 COMP
2 craniofacial MP:0005382 10.04 FGFR3 FGFR1 MAP2K1 FGFR2 NPPC PTH1R
3 limbs/digits/tail MP:0005371 9.97 FGFR1 FGFR2 NPPC COMP FGF3 FGFR3
4 digestive/alimentary MP:0005381 9.95 FGFR3 FGFR1 MAP2K1 FGFR2 SOX9 PTH1R
5 embryo MP:0005380 9.93 FGF3 FGFR1 MAP2K1 FGFR2 SOX9 PTH1R
6 nervous system MP:0003631 9.92 FGF3 FGFR3 FGFR1 MAP2K1 FGFR2 SOX9
7 hearing/vestibular/ear MP:0005377 9.88 FGF3 FGFR3 FGFR1 MAP2K1 FGFR2 SOX9
8 normal MP:0002873 9.8 FGF3 FGFR3 FGFR1 MAP2K1 FGFR2 COMP
9 reproductive system MP:0005389 9.7 FGF3 FGFR3 FGFR1 MAP2K1 FGFR2 SOX9
10 skeleton MP:0005390 9.61 FGFR3 FGFR1 MAP2K1 FGFR2 NPPC COMP
11 vision/eye MP:0005391 9.1 FGFR3 FGFR1 MAP2K1 FGFR2 SOX9 PTH1R

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

Interventional clinical trials:

(show all 14)
# 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 Enrolling by invitation 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 Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers Completed NCT01590446 Phase 1 BMN 111;Normal Saline
6 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
7 A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin Completed NCT01435629 somatropin
8 Issues Surrounding Prenatal Genetic Testing for Achondroplasia Completed NCT00001536
9 Special Survey for Long Term Application Completed NCT01516229 somatropin
10 Simultaneous Lengthening of Bilateral Femora and Tibiae in Achondroplastic Patients Completed NCT01328418 Not Applicable
11 Study of Skeletal Disorders and Short Stature Completed NCT00001754
12 Lifetime Impact of Achondroplasia Study in Europe-LIAISE Recruiting NCT03449368
13 Achondroplasia Natural History Multicenter Clinical Study Enrolling by invitation NCT02597881
14 A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Enrolling by invitation NCT01603095

Search NIH Clinical Center for Achondroplasia

Cochrane evidence based reviews: achondroplasia

Genetic Tests for Achondroplasia

Genetic tests related to Achondroplasia:

# Genetic test Affiliating Genes
1 Achondroplasia 29 FGFR3

Anatomical Context for Achondroplasia

MalaCards organs/tissues related to Achondroplasia:

41
Bone, Brain, Spinal Cord, Lung, Testes, Bone Marrow, Occipital Lobe

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 673)
# Title Authors Year
1
Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine? ( 29872110 )
2018
2
Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth. ( 29424094 )
2018
3
Acute type A aortic dissection repair in an octogenarian with achondroplasia: a case report. ( 29884976 )
2018
4
The Efficacy of Brace Treatment for Thoracolumbar Kyphosis in Patients with Achondroplasia. ( 29419717 )
2018
5
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
6
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. ( 29360984 )
2018
7
Skeletal Characterization of the Fgfr3 Mouse Model of Achondroplasia Using Micro-CT and MRI Volumetric Imaging. ( 29323153 )
2018
8
Changes in the range of motion of the lower limb joints during extensive tibial lengthening in achondroplasia. ( 29878976 )
2018
9
The Oxygen Consumption and Metabolic Cost of Walking and Running in Adults With Achondroplasia. ( 29720948 )
2018
10
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with<i>FGFR3-</i>Related Skeletal Dysplasias. ( 29170271 )
2018
11
Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia. ( 29040558 )
2018
12
Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography and circulating cell-free fetal DNA analysis. ( 29380944 )
2018
13
Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia. ( 29959505 )
2018
14
Natural history of 39 patients with Achondroplasia. ( 29972438 )
2018
15
Growth velocity and biological variables during puberty in achondroplasia. ( 29466240 )
2018
16
Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia. ( 29652901 )
2018
17
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival. ( 29681095 )
2018
18
Achondroplasia: Etiology, Clinical Presentation, and Management. ( 29185944 )
2017
19
Final adult height in long-term growth hormone-treated achondroplasia patients. ( 28501952 )
2017
20
Reverse shoulder arthroplasty in young patient with achondroplasia - Ten year follow up: Case report. ( 28827054 )
2017
21
Successful obstetric and anaesthetic management of a pregnant woman with achondroplasia. ( 29070618 )
2017
22
A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data. ( 28374958 )
2017
23
Subcranial and orthognathic surgery for obstructive sleep apnea in achondroplasia. ( 29108917 )
2017
24
Occult Spinal Cord Injury after Blunt Force Trauma in a Patient with Achondroplasia: A Case Report and Review of Trauma Management Strategy. ( 29079071 )
2017
25
Bilateral simultaneous total hip replacement in Achondroplasia. ( 28878547 )
2017
26
Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature. ( 28497003 )
2017
27
A case of multivessel PTCA in achondroplasia patient. ( 29622960 )
2017
28
Coincidental Finding of Twin Dentigerous Cyst in an Achondroplasia Patient. ( 28893057 )
2017
29
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years. ( 28672740 )
2017
30
Sinus pericranii in achondroplasia: a case report and review of the literature. ( 28872565 )
2017
31
Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia. ( 28819680 )
2017
32
Successful Delivery in a Woman With Achondroplasia: A Case Report. ( 29034653 )
2017
33
Clinical dosage of meclozine promotes longitudinal bone growth, bone volume, and trabecular bone quality in transgenic mice with achondroplasia. ( 28785080 )
2017
34
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. ( 28911208 )
2017
35
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )
2017
36
Long-term follow-up of a patient with achondroplasia treated with an orthodontic approach. ( 28364903 )
2017
37
Arthroscopic knee anatomy in young achondroplasia patients. ( 28828058 )
2017
38
Maternal administration of meclozine for the treatment of foramen magnum stenosis in transgenic mice with achondroplasia. ( 27767902 )
2017
39
Growth charts for Australian children with achondroplasia. ( 28599087 )
2017
40
Spondylectomy and lateral lumbar interbody fusion for thoracolumbar kyphosis in an adult with achondroplasia: A case report. ( 29245270 )
2017
41
Two-staged Bilateral, Femoral Alignment Osteotomy with Concomitant Total Knee Arthroplasty in an Achondroplasia Patient - A Case Report. ( 28819598 )
2017
42
Leadless pacemaker implantation in achondroplastic dwarfism and recurrent cardiac implantable electronic device infections: a case report. ( 29300871 )
2017
43
Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family. ( 28679403 )
2017
44
Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit. ( 28210519 )
2017
45
Achondroplasia with multiple supplemental supernumerary teeth and multiple talon cusps: A rare case report. ( 28702065 )
2017
46
Myxoedema in a patient with achondroplasia in rural area of Guatemala. ( 28280081 )
2017
47
Sleep-disordered breathing and its management in children with achondroplasia. ( 28239978 )
2017
48
Achondroplasia with Polydactyly: A Case Report. ( 28511523 )
2017
49
The prevalence of the complications and their associated factors in humeral lengthening for achondroplasia: retrospective study of 54 cases. ( 28107267 )
2017
50
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. ( 28230213 )
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 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
2 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
3 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
4 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
5 FGFR3 NM_000142.4(FGFR3): c.1123G> T (p.Gly375Cys) single nucleotide variant Pathogenic rs75790268 GRCh37 Chromosome 4, 1806104: 1806104
6 FGFR3 NM_000142.4(FGFR3): c.1123G> T (p.Gly375Cys) single nucleotide variant Pathogenic rs75790268 GRCh38 Chromosome 4, 1804377: 1804377
7 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
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.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
10 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh38 Chromosome 4, 1801837: 1801837
11 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
12 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
13 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh37 Chromosome 4, 1803657: 1803657
14 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh38 Chromosome 4, 1801930: 1801930

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 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ACAN BMP8B FGFR1 FGFR2 FGFR3 MAP2K1
2
Show member pathways
13.35 BMP8B FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
3
Show member pathways
12.92 ACAN FGFR1 FGFR2 FGFR3 MAP2K1
4
Show member pathways
12.71 COMP FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
5
Show member pathways
12.7 FGFR1 FGFR2 FGFR3 MAP2K1
6
Show member pathways
12.7 FGF3 FGFR1 FGFR2 FGFR3
7 12.69 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
8
Show member pathways
12.63 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
9
Show member pathways
12.62 FGF3 FGFR1 FGFR2 MAP2K1
10 12.61 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
11
Show member pathways
12.58 FGF3 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.55 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
13
Show member pathways
12.44 FGF3 FGFR1 FGFR2 FGFR3
14 12.39 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
15
Show member pathways
12.37 FGFR1 FGFR2 FGFR3 MAP2K1
16
Show member pathways
12.32 FGFR1 FGFR2 FGFR3 MAP2K1
17
Show member pathways
12.28 FGF3 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.27 FGF3 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.18 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
20
Show member pathways
12.16 FGF3 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.08 FGFR1 FGFR2 FGFR3 MAP2K1
22 12 FGFR1 FGFR2 FGFR3
23 11.99 FGFR1 FGFR2 FGFR3
24
Show member pathways
11.99 FGF3 FGFR1 FGFR2 FGFR3
25 11.9 FGFR1 FGFR2 FGFR3 MAP2K1
26
Show member pathways
11.89 BMP8B FGFR1 FGFR2 FGFR3 MAP2K1
27 11.83 FGFR1 MAP2K1 PTH1R
28 11.74 FGFR1 FGFR2 FGFR3
29
Show member pathways
11.74 FGFR1 FGFR2 FGFR3 MAP2K1
30 11.68 FGFR1 FGFR3 SOX9
31 11.63 FGFR1 FGFR2 FGFR3 SOX9
32 11.37 FGFR1 FGFR2 FGFR3
33 11.27 FGFR1 FGFR2 FGFR3 MAP2K1
34 11.22 ACAN COMP
35 11.17 ACAN FGFR1 FGFR3 PTH1R SOX9
36 10.97 FGFR1 MAP2K1
37 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 extracellular region GO:0005576 9.56 ACAN BMP8B COMP FGF3 FGFR1 FGFR2
2 receptor complex GO:0043235 8.92 FGFR1 FGFR2 FGFR3 PTH1R

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.96 MAP2K1 NPPC PTH1R SOX9
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.9 FGFR1 FGFR2 FGFR3 MAP2K1
3 positive regulation of cell proliferation GO:0008284 9.88 FGF3 FGFR1 FGFR2 FGFR3 PTH1R SOX9
4 extracellular matrix organization GO:0030198 9.85 ACAN COMP SOX9
5 positive regulation of protein kinase B signaling GO:0051897 9.85 FGF3 FGFR1 FGFR2 FGFR3
6 MAPK cascade GO:0000165 9.85 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
7 protein autophosphorylation GO:0046777 9.84 FGFR1 FGFR2 FGFR3
8 positive regulation of MAPK cascade GO:0043410 9.83 FGFR1 FGFR2 FGFR3
9 negative regulation of signal transduction GO:0009968 9.83 FGFR1 FGFR2 FGFR3
10 central nervous system development GO:0007417 9.81 ACAN FGFR1 FGFR2 SOX9
11 positive regulation of kinase activity GO:0033674 9.79 FGFR1 FGFR2 FGFR3
12 phosphatidylinositol phosphorylation GO:0046854 9.78 FGF3 FGFR1 FGFR2 FGFR3
13 ossification GO:0001503 9.73 BMP8B NPPC PTH1R SOX9
14 peptidyl-tyrosine phosphorylation GO:0018108 9.72 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
15 bone mineralization GO:0030282 9.71 FGFR2 FGFR3 PTH1R
16 positive regulation of cardiac muscle cell proliferation GO:0060045 9.68 FGFR1 FGFR2
17 cell maturation GO:0048469 9.68 FGFR1 PTH1R
18 bone morphogenesis GO:0060349 9.67 FGFR2 FGFR3
19 ERK1 and ERK2 cascade GO:0070371 9.67 MAP2K1 SOX9
20 regulation of multicellular organism growth GO:0040014 9.67 FGFR2 NPPC
21 positive regulation of mesenchymal cell proliferation GO:0002053 9.67 FGFR1 FGFR2 SOX9
22 fibroblast growth factor receptor signaling pathway GO:0008543 9.67 FGF3 FGFR1 FGFR2 FGFR3
23 limb bud formation GO:0060174 9.65 FGFR2 SOX9
24 branching involved in salivary gland morphogenesis GO:0060445 9.64 FGFR1 FGFR2
25 mesenchymal cell differentiation GO:0048762 9.64 FGFR1 FGFR2
26 lung-associated mesenchyme development GO:0060484 9.63 FGFR1 FGFR2
27 endochondral bone growth GO:0003416 9.62 FGFR2 FGFR3
28 otic vesicle formation GO:0030916 9.62 FGFR2 SOX9
29 lacrimal gland development GO:0032808 9.59 FGFR2 SOX9
30 prostate gland morphogenesis GO:0060512 9.58 FGFR2 SOX9
31 orbitofrontal cortex development GO:0021769 9.57 FGFR1 FGFR2
32 ventricular zone neuroblast division GO:0021847 9.56 FGFR1 FGFR2
33 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.56 FGF3 FGFR1 FGFR2 FGFR3
34 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.52 FGFR1 FGFR2
35 positive regulation of phospholipase activity GO:0010518 9.33 FGFR1 FGFR2 FGFR3
36 chondrocyte differentiation GO:0002062 9.26 FGFR1 FGFR3 PTH1R SOX9
37 skeletal system development GO:0001501 9.23 ACAN BMP8B COMP FGFR1 FGFR3 PTH1R
38 multicellular organism development GO:0007275 10.11 BMP8B FGF3 FGFR1 FGFR2 FGFR3 SHOX
39 cell differentiation GO:0030154 10.06 BMP8B FGF3 FGFR1 FGFR2 FGFR3 SOX9
40 negative regulation of apoptotic process GO:0043066 10 COMP FGFR1 FGFR2 FGFR3 SOX9

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.83 FGFR1 FGFR2 FGFR3 MAP2K1 SOX9
2 nucleotide binding GO:0000166 9.81 FGFR1 FGFR2 FGFR3 MAP2K1
3 transmembrane signaling receptor activity GO:0004888 9.8 FGFR1 FGFR2 FGFR3 PTH1R
4 heparin binding GO:0008201 9.7 COMP FGFR1 FGFR2
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.67 FGF3 FGFR1 FGFR2 FGFR3
6 MAP kinase kinase kinase activity GO:0004709 9.65 FGFR1 FGFR2 FGFR3
7 mitogen-activated protein kinase kinase binding GO:0031434 9.63 FGFR1 FGFR2 FGFR3
8 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 FGFR1 FGFR2 FGFR3
9 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.56 FGF3 FGFR1 FGFR2 FGFR3
10 protein tyrosine kinase activity GO:0004713 9.55 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
11 fibroblast growth factor binding GO:0017134 9.5 FGFR1 FGFR2 FGFR3
12 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF3 FGFR1 FGFR2 FGFR3
13 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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