MCID: HYP042
MIFTS: 57

Hypochondroplasia malady

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

Aliases & Classifications for Hypochondroplasia

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Aliases & Descriptions for Hypochondroplasia:

Name: Hypochondroplasia 51 11 70 23 47 24 25 53 69 26 12 49 13
Hch 47 25 69
 
Hypochondrodysplasia 25

Characteristics:

Orphanet epidemiological data:

53
hypochondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

63
hypochondroplasia:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: because of evidence that the height range in hypochondroplasia may overlap that of the normal population, individuals with hypochondroplasia may not be recognized as having a skeletal dysplasia unless an astute physician recognizes their disproportionate short stature. however, there have been no reports of individuals with an fgfr3 mutation without demonstrable radiographic changes compatible with hypochondroplasia or one of the other phenotypes known to be associated with mutations in this gene (see genetically related disorders)...


Classifications:



External Ids:

OMIM51 146000
Disease Ontology11 DOID:0080041
Orphanet53 ORPHA429
ICD10 via Orphanet30 Q77.4
UMLS via Orphanet68 C0410529
MedGen36 C0410529

Summaries for Hypochondroplasia

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NIH Rare Diseases:47 Hypochondroplasia is a form dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion. Last updated: 4/29/2011

MalaCards based summary: Hypochondroplasia, also known as hch, is related to thanatophoric dysplasia, type i and achondroplasia, and has symptoms including brachydactyly syndrome, short toe and skeletal dysplasia. An important gene associated with Hypochondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Endochondral Ossification and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, temporal lobe and skin, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Disease Ontology:11 An osteochondrodysplasia that has material basis in mutation in the FGFR3 gene which affects ossification of cartilage and results in short limb dwarfism.

Genetics Home Reference:25 Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.

OMIM:51 Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and... (146000) more...

UniProtKB/Swiss-Prot:69 Hypochondroplasia: Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.

Wikipedia:70 Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the... more...

GeneReviews for NBK1477

Related Diseases for Hypochondroplasia

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Diseases related to Hypochondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia, type i26.7FGF3, FGFR1, FGFR2, FGFR3, NPPC, SHOX
2achondroplasia11.3
3autism susceptibility, x-linked 210.2FGFR3, SHOX
4osteopathia striata with pigmentary dermopathy including white forelock10.2FGFR3, NPPC
5mite infestation10.1FGFR2, FGFR3
6epiphyseal chondrodysplasia, miura type10.1FGFR3, NPPC
7apert syndrome10.1FGFR2, FGFR3
8accommodative esotropia10.1FGFR2, FGFR3
9crouzon syndrome with acanthosis nigricans10.0FGFR2, FGFR3
10acanthosis nigricans10.0
11glaucomatocyclitic crisis10.0FGFR2, FGFR3
12breast cancer10.0
13scleredema adultorum10.0FGFR2, FGFR3
14skeletal dysplasias9.9
15skeletal dysplasia9.9
16osteopetrosis and infantile neuroaxonal dystrophy9.9FGFR1, FGFR3
17syphilitic myelopathy9.9FGFR1, FGFR3
18charcot-marie-tooth disease type 59.8FGFR3, NPPC, SHOX
19dwarfism9.8
20grade iii astrocytoma9.8FGFR1, FGFR3
21pfn1-related amyotrophic lateral sclerosis9.8FGFR1, FGFR2
22hepatitis c virus9.7
23hepatitis9.7
24motor neuron disease9.7
25hepatitis c9.7
26neuronitis9.7
27serous conjunctivitis except viral9.7FGFR2, FGFR3
28uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis9.7FGFR1, FGFR2
29hidradenitis9.7FGFR1, SHOX
30muenke syndrome9.7
31retinoblastoma9.7
32insulin-like growth factor i9.7
33leri-weill dyschondrosteosis9.7
34spinal stenosis9.7
35down syndrome9.7
36epilepsy9.7
37focal epilepsy9.7
38turner syndrome9.7
39adult astrocytic tumour9.6FGFR1, FGFR3
40y-linked disease9.6FGFR2, FGFR3
41myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.5FGFR1, FGFR2
42flnb-related disorders9.5FGFR1, FGFR2, FGFR3
43plasmalogens synthesis deficiency isolated9.5FGFR1, FGFR2, FGFR3
44trigonocephaly 19.5FGFR1, FGFR2, FGFR3
45bladder cancer, somatic9.5FGFR1, FGFR2, FGFR3
46hypogonadotropic hypogonadism 2 with or without anosmia9.4FGFR1, FGFR2, FGFR3
47central nervous system leukemia9.4FGFR1, FGFR2, FGFR3
48antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.4FGFR1, FGFR2, FGFR3
49beare-stevenson cutis gyrata syndrome9.4FGFR1, FGFR2, FGFR3
50ischemic bone disease9.4FGFR1, FGFR2, FGFR3

Graphical network of the top 20 diseases related to Hypochondroplasia:



Diseases related to hypochondroplasia

Symptoms for Hypochondroplasia

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Symptoms by clinical synopsis from OMIM:

146000

Clinical features from OMIM:

146000

Human phenotypes related to Hypochondroplasia:

 63 53 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly syndrome63 53 hallmark (90%) Very frequent (99-80%) HP:0001156
2 short toe63 53 hallmark (90%) Very frequent (99-80%) HP:0001831
3 skeletal dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002652
4 micromelia63 53 hallmark (90%) Very frequent (99-80%) HP:0002983
5 abnormal form of the vertebral bodies63 53 hallmark (90%) Very frequent (99-80%) HP:0003312
6 short stature63 hallmark (90%) HP:0004322
7 joint hypermobility63 typical (50%) HP:0001382
8 abnormality of pelvic girdle bone morphology63 53 typical (50%) Frequent (79-30%) HP:0002644
9 abnormality of the femur63 53 typical (50%) Frequent (79-30%) HP:0002823
10 genu varum63 53 typical (50%) Frequent (79-30%) HP:0002970
11 abnormality of the elbow63 53 typical (50%) Frequent (79-30%) HP:0009811
12 macrocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000256
13 intellectual disability63 53 occasional (7.5%) Occasional (29-5%) HP:0001249
14 apnea63 occasional (7.5%) HP:0002104
15 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
16 osteoarthritis63 53 occasional (7.5%) Occasional (29-5%) HP:0002758
17 hyperlordosis63 53 occasional (7.5%) Occasional (29-5%) HP:0003307
18 spinal canal stenosis63 53 occasional (7.5%) Occasional (29-5%) HP:0003416
19 cognitive impairment63 occasional (7.5%) HP:0100543
20 malar flattening63 HP:0000272
21 limited elbow extension63 HP:0001377
22 frontal bossing63 HP:0002007
23 lumbar hyperlordosis63 HP:0002938
24 flared metaphysis63 HP:0003015
25 short long bone63 HP:0003026
26 aplasia/hypoplasia of the extremities63 HP:0009815
27 childhood onset short-limb short stature63 53 Very frequent (99-80%) HP:0011405
28 abnormality of the metaphyses53 Frequent (79-30%)
29 joint hyperflexibility53 Frequent (79-30%)
30 bowing of the long bones53 Occasional (29-5%)
31 sleep apnea53 Occasional (29-5%)

Drugs & Therapeutics for Hypochondroplasia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormone AntagonistsPhase 212778
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 212767
3HormonesPhase 213979
4Natriuretic Peptide, C-Type5
5Natriuretic Agents1645

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated at Least 3 Years or Until Near Final Height, When Applicable, in Comparison With a Historic Cohort of Non-treaActive, not recruitingNCT01111019Phase 2
2C-Type Natriuretic Peptide and AchondroplasiaCompletedNCT01541306
3A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With SomatropinCompletedNCT01435629
4Study of Skeletal Disorders and Short StatureCompletedNCT00001754

Search NIH Clinical Center for Hypochondroplasia

Genetic Tests for Hypochondroplasia

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Genetic tests related to Hypochondroplasia:

id Genetic test Affiliating Genes
1 Hypochondroplasia26 24 FGFR3

Anatomical Context for Hypochondroplasia

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MalaCards organs/tissues related to Hypochondroplasia:

35
Bone, Temporal lobe, Skin, Bone marrow

Animal Models for Hypochondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Hypochondroplasia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9FGFR1, FGFR2, FGFR3, NPPC
2MP:00053778.9FGF3, FGFR1, FGFR2, FGFR3
3MP:00030128.9FGF3, FGFR1, FGFR2, FGFR3
4MP:00053718.4FGF3, FGFR1, FGFR2, FGFR3, NPPC
5MP:00053898.3FGF3, FGFR1, FGFR2, FGFR3, NPPC
6MP:00053907.6FGF3, FGFR1, FGFR2, FGFR3, NPPC

Publications for Hypochondroplasia

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Articles related to Hypochondroplasia:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. (26814021)
2016
2
Low bone mineral density in achondroplasia and hypochondroplasia. (26716907)
2015
3
Growth hormone treatment in patients with hypochondroplasia. (25531227)
2014
4
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? (25505998)
2014
5
Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K). (23614116)
2013
6
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review. (24411048)
2013
7
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. (23045425)
2012
8
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. (23149434)
2012
9
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. (22137367)
2012
10
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). (21873755)
2011
11
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. (21225389)
2011
12
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. (20226364)
2010
13
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. (21510009)
2010
14
Distraction osteogenesis of the lower extremity in patients with achondroplasia/hypochondroplasia treated with transplantation of culture-expanded bone marrow cells and platelet-rich plasma. (17717461)
2007
15
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
16
Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between dyschondrosteosis, Turner syndrome, and hypochondroplasia. (16796318)
2006
17
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. (16418051)
2005
18
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
19
Disproportionate stature but normal height in hypochondroplasia. (15909185)
2005
20
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. (12476453)
2003
21
Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia]. (15022403)
2003
22
The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. (12733711)
2003
23
Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia. (11297088)
2001
24
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. (11071087)
2000
25
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. (11015576)
2000
26
Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia. (10890199)
2000
27
Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia. (9932857)
1999
28
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. (10405653)
1999
29
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. (10360393)
1999
30
Genotype phenotype correlation in achondroplasia and hypochondroplasia. (9853502)
1998
31
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. (9452043)
1998
32
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. (10215410)
1998
33
Comparison of clinical-radiological and molecular findings in hypochondroplasia. (9450868)
1998
34
Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. (9372781)
1997
35
Clinical and genetic heterogeneity of hypochondroplasia. (8880574)
1996
36
Confirmatory linkage of hypochondroplasia to chromosome arm 4p. (7677163)
1995
37
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. (7670477)
1995
38
A common FGFR3 gene mutation in hypochondroplasia. (8589686)
1995
39
Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients. (1879059)
1991
40
Molecular genetics of hypochondroplasia. (1678996)
1991
41
The frequency of mental retardation in hypochondroplasia. (1956068)
1991
42
Prenatal diagnosis of hypochondroplasia. (3911194)
1985
43
An autosomal recessive bone dysplasia syndrome resembling hypochondroplasia. (4039054)
1985
44
Multiple exostotic hypochondroplasia: syndrome of combined hypochondroplasia and multiple exostoses. (6332296)
1984
45
Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. (7298674)
1981
46
Hypochondroplasia: clinical and radiological aspects in 39 cases. (472320)
1979
47
Hypochondroplasia. (727810)
1978
48
Hypochondroplasia. (1158967)
1975
49
The genetic entity of hypochondroplasia. (4838890)
1974
50
Hypochondroplasia. A report of five kindreds. (5783850)
1969

Variations for Hypochondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:

69
id Symbol AA change Variation ID SNP ID
1FGFR3p.Ile538ValVAR_004157rs80053154
2FGFR3p.Asn540LysVAR_004158rs28933068
3FGFR3p.Asn540ThrVAR_004159rs77722678
4FGFR3p.Asn540SerVAR_018389rs77722678
5FGFR3p.Lys650GlnVAR_018390rs78311289

Clinvar genetic disease variations for Hypochondroplasia:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys)SNVPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
2FGFR3NM_000142.4(FGFR3): c.1619A> C (p.Asn540Thr)SNVPathogenicrs77722678GRCh37Chr 4, 1807370: 1807370
3FGFR3NM_000142.4(FGFR3): c.1612A> G (p.Ile538Val)SNVPathogenicrs80053154GRCh37Chr 4, 1807363: 1807363
4FGFR3NM_000142.4(FGFR3): c.1950G> T (p.Lys650Asn)SNVPathogenicrs28928868GRCh37Chr 4, 1807891: 1807891
5FGFR3NM_000142.4(FGFR3): c.1950G> C (p.Lys650Asn)SNVPathogenicrs28928868GRCh37Chr 4, 1807891: 1807891
6FGFR3NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln)SNVPathogenicrs78311289GRCh37Chr 4, 1807889: 1807889
7FGFR3NM_000142.4(FGFR3): c.1619A> G (p.Asn540Ser)SNVPathogenicrs77722678GRCh37Chr 4, 1807370: 1807370
8FGFR3NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys)SNVPathogenicrs121913114GRCh37Chr 4, 1803657: 1803657
9FGFR3NM_000142.4(FGFR3): c.833A> G (p.Tyr278Cys)SNVPathogenicrs121913115GRCh37Chr 4, 1803655: 1803655
10FGFR3NM_000142.4(FGFR3): c.251C> T (p.Ser84Leu)SNVPathogenicrs121913116GRCh37Chr 4, 1801122: 1801122
11FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)SNV, HaplotypePathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
12FGFR3NM_000142.4(FGFR3): c.344A> T (p.Gln115Leu)SNVPathogenicrs587778769GRCh37Chr 4, 1801215: 1801215
13NP_000133.1: p.Gly65Argundetermined variantPathogenicChr na, -1: -1
14FGFR3NM_000142.4(FGFR3): c.791C> T (p.Thr264Met)SNVPathogenicrs587778773GRCh37Chr 4, 1803613: 1803613
15FGFR3NM_000142.4(FGFR3): c.1024G> T (p.Gly342Cys)SNVPathogenicrs587778775GRCh37Chr 4, 1805512: 1805512
16FGFR3NM_000142.4(FGFR3): c.1142T> A (p.Val381Glu)SNVPathogenicrs587778776GRCh37Chr 4, 1806123: 1806123
17FGFR3NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr)SNVPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
18FGFR3NM_000142.4(FGFR3): c.597C> T (p.His199=)SNVPathogenicrs587778801GRCh37Chr 4, 1803245: 1803245
19NM_000142.4: c.783A> CSNVPathogenicChr na, -1: -1
20FGFR3NM_000142.4(FGFR3): c.801G> T (p.Leu267=)SNVPathogenicrs587778811GRCh37Chr 4, 1803623: 1803623
21FGFR3NM_000142.4(FGFR3): c.970C> G (p.Leu324Val)SNVPathogenicrs587778816GRCh37Chr 4, 1805458: 1805458
22FGFR3NM_000142.4(FGFR3): c.983A> T (p.Asn328Ile)SNVPathogenicrs587778817GRCh37Chr 4, 1805471: 1805471

Expression for genes affiliated with Hypochondroplasia

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Search GEO for disease gene expression data for Hypochondroplasia.

Pathways for genes affiliated with Hypochondroplasia

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Pathways related to Hypochondroplasia according to GeneCards Suite gene sharing:

(show all 30)
idSuper pathwaysScoreTop Affiliating Genes
19.2FGFR1, FGFR3
29.2FGFR1, FGFR3
39.0FGFR1, FGFR2
48.6FGFR1, FGFR2, FGFR3
58.6FGFR1, FGFR2, FGFR3
68.6FGFR1, FGFR2, FGFR3
7
Show member pathways
8.6FGFR1, FGFR2, FGFR3
88.6FGFR1, FGFR2, FGFR3
9
Show member pathways
8.6FGFR1, FGFR2, FGFR3
10
Show member pathways
8.6FGFR1, FGFR2, FGFR3
118.6FGFR1, FGFR2, FGFR3
128.6FGFR1, FGFR2, FGFR3
13
Show member pathways
8.6FGFR1, FGFR2, FGFR3
14
Show member pathways
8.6FGFR1, FGFR2, FGFR3
15
Show member pathways
8.5FGF3, FGFR1, FGFR2
16
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
17
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
18
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
19
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
20
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
21
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
22
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
238.1FGF3, FGFR1, FGFR2, FGFR3
24
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
258.1FGF3, FGFR1, FGFR2, FGFR3
268.1FGF3, FGFR1, FGFR2, FGFR3
278.1FGF3, FGFR1, FGFR2, FGFR3
288.1FGF3, FGFR1, FGFR2, FGFR3
29
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
30
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3

GO Terms for genes affiliated with Hypochondroplasia

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055767.6FGF3, FGFR1, FGFR2, FGFR3, NPPC

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

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1bone mineralizationGO:003028210.0FGFR2, FGFR3
2positive regulation of cell divisionGO:00517819.9FGF3, FGFR2
3bone morphogenesisGO:00603499.9FGFR2, FGFR3
4fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
5chondrocyte differentiationGO:00020629.8FGFR1, FGFR3
6post-embryonic developmentGO:00097919.8FGFR2, NPPC
7mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
8positive regulation of cardiac muscle cell proliferationGO:00600459.6FGFR1, FGFR2
9positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
10skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
11branching involved in salivary gland morphogenesisGO:00604459.5FGFR1, FGFR2
12positive regulation of mesenchymal cell proliferationGO:00020539.5FGFR1, FGFR2
13ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
14ureteric bud developmentGO:00016579.5FGFR1, FGFR2
15inner ear morphogenesisGO:00424729.4FGFR1, FGFR2
16midbrain developmentGO:00309019.4FGFR1, FGFR2
17cell-cell signalingGO:00072679.3FGF3, FGFR2, FGFR3
18lung-associated mesenchyme developmentGO:00604849.2FGFR1, FGFR2
19skeletal system developmentGO:00015019.2FGFR1, FGFR3, SHOX
20positive regulation of phospholipase activityGO:00105189.1FGFR1, FGFR2, FGFR3
21protein autophosphorylationGO:00467779.1FGFR1, FGFR2, FGFR3
22regulation of multicellular organism growthGO:00400149.0FGFR2, NPPC
23positive regulation of MAPK cascadeGO:00434109.0FGFR1, FGFR2, FGFR3
24orbitofrontal cortex developmentGO:00217698.9FGFR1, FGFR2
25phosphatidylinositol-3-phosphate biosynthetic processGO:00360928.8FGF3, FGFR1, FGFR2, FGFR3
26phosphatidylinositol phosphorylationGO:00468548.7FGF3, FGFR1, FGFR2, FGFR3
27regulation of phosphatidylinositol 3-kinase signalingGO:00140668.7FGF3, FGFR1, FGFR2, FGFR3
28phosphatidylinositol-mediated signalingGO:00480158.7FGF3, FGFR1, FGFR2, FGFR3
29fibroblast growth factor receptor signaling pathwayGO:00085438.6FGF3, FGFR1, FGFR2, FGFR3
30peptidyl-tyrosine phosphorylationGO:00181088.6FGF3, FGFR1, FGFR2, FGFR3
31MAPK cascadeGO:00001658.3FGF3, FGFR1, FGFR2, FGFR3
32positive regulation of GTPase activityGO:00435478.2FGF3, FGFR1, FGFR2, FGFR3
33positive regulation of cell proliferationGO:00082848.1FGF3, FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.2FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171348.7FGFR1, FGFR2, FGFR3
31-phosphatidylinositol-3-kinase activityGO:00163038.5FGF3, FGFR1, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469348.4FGF3, FGFR1, FGFR2, FGFR3
5Ras guanyl-nucleotide exchange factor activityGO:00050888.1FGF3, FGFR1, FGFR2, FGFR3
6protein tyrosine kinase activityGO:00047137.8FGF3, FGFR1, FGFR2, FGFR3

Sources for Hypochondroplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet