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 49 10 11 68 21 45 22 23 47 12 51 67 24
Hch 68 45 23 67
 
Hypochondrodysplasia 68 23

Characteristics:

Orphanet epidemiological data:

51
hypochondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

61
hypochondroplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 146000
Disease Ontology10 DOID:0080041
Orphanet51 429
UMLS via Orphanet66 C0410529
ICD10 via Orphanet28 Q77.4
MedGen34 C0410529

Summaries for Hypochondroplasia

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NIH Rare Diseases:45 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 achondroplasia and leukemia, and has symptoms including short stature, abnormal form of the vertebral bodies and micromelia. An important gene associated with Hypochondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Endochondral Ossification. Affiliated tissues include bone, liver and thyroid, and related mouse phenotypes are no phenotypic analysis and hearing/vestibular/ear.

Disease Ontology:10 An osteochondrodysplasia that has material basis in mutation in the FGFR3 gene which affects ossification of cartilage and results in short limb dwarfism.

UniProtKB/Swiss-Prot:67 Hypochondroplasia: Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.

Genetics Home Reference:23 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:49 Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and... (146000) more...

Wikipedia:68 Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the... more...

GeneReviews summary 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 125)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia10.4
2leukemia10.2
3adenoma10.2
4lupus erythematosus10.2
5hepatocellular carcinoma10.1
6zollinger-ellison syndrome10.1
7artery disease10.1
8oral squamous cell carcinoma10.1
9sarcoma10.1
10cerebritis10.1
11pituitary adenoma10.1
12mycetoma10.1
13nonalcoholic steatohepatitis10.1
14epiphyseal chondrodysplasia, miura type10.1FGFR3, NPPC
15adult astrocytic tumour10.1FGFR1, FGFR3
16skeleto cardiac syndrome with thrombocytopenia10.1FGFR3, NPPC
17sex differentiation disease10.0FGFR1, SHOX
18colorectal cancer10.0
19systemic lupus erythematosus10.0
20lung cancer10.0
21hiv-110.0
22breast cancer10.0
23coronary artery disease10.0
24leprosy10.0
25alzheimer disease10.0
26polycystic liver disease10.0
27gastroesophageal reflux10.0
28cerebral amyloid angiopathy10.0
29metachromatic leukodystrophy10.0
30becker muscular dystrophy10.0
31peripheral vascular disease10.0
32bronchiolitis obliterans10.0
33chronic lymphocytic leukemia10.0
34cutaneous leishmaniasis10.0
35limbal stem cell deficiency10.0
36liver disease10.0
37peripheral t-cell lymphoma10.0
38pulmonary fibrosis10.0
39silicosis10.0
40cutaneous lupus erythematosus10.0
41cervical dystonia10.0
42autism spectrum disorder10.0
43lymphoma10.0
44common cold10.0
45leukodystrophy10.0
46meconium aspiration syndrome10.0
47corneal neovascularization10.0
48cardiac tamponade10.0
49myopia10.0
50arachnoiditis10.0

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

Symptoms:

 51 (show all 21)
  • abnormal vertebral size/shape
  • short limbs/micromelia/brachymelia
  • short hand/brachydactyly
  • short foot/brachydactyly of toes
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • elbow anomalies(excluding luxation)
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • genu varum
  • metaphyseal anomaly
  • hyperextensible joints/articular hyperlaxity
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • lordosis
  • scoliosis
  • rachidian/spine canal stenosis
  • apnea/sleep apnea
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • bowed diaphysis/diaphyses/long bones
  • osteoarthritis

HPO human phenotypes related to Hypochondroplasia:

(show all 31)
id Description Frequency HPO Source Accession
1 short stature hallmark (90%) HP:0004322
2 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
3 micromelia hallmark (90%) HP:0002983
4 skeletal dysplasia hallmark (90%) HP:0002652
5 short toe hallmark (90%) HP:0001831
6 brachydactyly syndrome hallmark (90%) HP:0001156
7 abnormality of the elbow typical (50%) HP:0009811
8 genu varum typical (50%) HP:0002970
9 abnormality of the femur typical (50%) HP:0002823
10 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
11 joint hypermobility typical (50%) HP:0001382
12 cognitive impairment occasional (7.5%) HP:0100543
13 spinal canal stenosis occasional (7.5%) HP:0003416
14 hyperlordosis occasional (7.5%) HP:0003307
15 osteoarthritis occasional (7.5%) HP:0002758
16 scoliosis occasional (7.5%) HP:0002650
17 apnea occasional (7.5%) HP:0002104
18 intellectual disability occasional (7.5%) HP:0001249
19 macrocephaly occasional (7.5%) HP:0000256
20 childhood onset short-limb short stature HP:0011405
21 aplasia/hypoplasia of the extremities HP:0009815
22 short long bone HP:0003026
23 flared metaphysis HP:0003015
24 genu varum HP:0002970
25 lumbar hyperlordosis HP:0002938
26 abnormality of pelvic girdle bone morphology HP:0002644
27 frontal bossing HP:0002007
28 limited elbow extension HP:0001377
29 brachydactyly syndrome HP:0001156
30 malar flattening HP:0000272
31 macrocephaly HP:0000256

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 210002
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 29988
3HormonesPhase 211748
4Natriuretic Peptide, C-Type5
5Natriuretic Agents1403

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 Hypochondroplasia22 FGFR3

Anatomical Context for Hypochondroplasia

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MalaCards organs/tissues related to Hypochondroplasia:

33
Bone, Liver, Thyroid, Lung, B cells, Cortex, Monocytes

Animal Models for Hypochondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Hypochondroplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.6FGF3, FGFR1, FGFR2, FGFR3
2MP:00053778.1FGF3, FGFR1, FGFR2, FGFR3
3MP:00053828.1FGFR1, FGFR2, FGFR3, NPPC
4MP:00053717.9FGF3, FGFR1, FGFR2, FGFR3, NPPC
5MP:00053897.8FGF3, FGFR1, FGFR2, FGFR3, NPPC
6MP:00036317.7FGF3, FGFR1, FGFR2, FGFR3, NPPC
7MP:00053907.6FGF3, FGFR1, FGFR2, FGFR3, NPPC

Publications for Hypochondroplasia

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Articles related to Hypochondroplasia:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
Association of Neighborhood Walkability With Change in Overweight, Obesity, and Diabetes. (27218630)
2016
2
Hypercalcemia and diffuse osteolytic lesions in a 45-year-old patient with myeloid sarcoma with megakaryocytic differentiation. (27124159)
2016
3
Epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation. (25690953)
2015
4
Opposing roles for JNK and Aurora A in regulating the association of WDR62 with spindle microtubules. (25501809)
2015
5
Clinical characteristics of connective tissue disease-associated interstitial lung disease in 1044 Chinese patients. (26447566)
2015
6
Intra- and Inter-session Reliability of Static and Dynamic Postural Control in Participants with and without Patellofemoral Pain Syndrome. (26839452)
2015
7
A sustained increase in plasma NEFA upregulates the Toll-like receptor network in human muscle. (24337154)
2014
8
Polymyositis in solid organ transplant recipients receiving tacrolimus. (25130930)
2014
9
Crescentic glomerulonephritis in a child with Heiner syndrome. (26388600)
2014
10
Management of bladder dysfunction in Wolfram syndrome with Mitrofanoff appendicovesicostomy: long-term follow-up. (25783330)
2014
11
Neurocognitive improvement after carotid artery stenting in patients with chronic internal carotid artery occlusion: a prospective, controlled, single-center study. (24643000)
2014
12
Ulcerative colitis in a child with partial trisomy 16. (23643844)
2013
13
Indices of onchocerciasis transmission by different members of the Simulium damnosum complex conflict with the paradigm of forest and savanna parasite strains. (22995985)
2013
14
Cutaneous leukocytoclastic vasculitis associated with letrozole. (23676512)
2013
15
Efficacy and safety of the intravitreal treatment of diabetic macular edema with pegaptanib: a 12-month follow-up. (23698213)
2013
16
Epidemiology of dermatofibrosarcoma protuberans in Alberta, Canada, from 1988 to 2007. (22691126)
2012
17
Caries and periodontal disease in patients with Parkinson's disease. (21950532)
2011
18
Role of ERG1 isoforms in modulation of ERG1 channel trafficking and function. (20574821)
2010
19
B cell-targeted therapies for systemic lupus erythematosus: an update on clinical trial data. (20297867)
2010
20
Recombinant anti-CD20 antibody fragments for small-animal PET imaging of B-cell lymphomas. (19690034)
2009
21
The role of ubiquitin in NF-kappaB regulatory pathways. (19489733)
2009
22
Detailed analysis of p53 pathway defects in fludarabine-refractory chronic lymphocytic leukemia (CLL): dissecting the contribution of 17p deletion, TP53 mutation, p53-p21 dysfunction, and miR34a in a prospective clinical trial. (19643983)
2009
23
Regulation of glucose transporter 3 surface expression by the AMP-activated protein kinase mediates tolerance to glutamate excitation in neurons. (19261894)
2009
24
Transcriptional restriction of human immunodeficiency virus type 1 gene expression in undifferentiated primary monocytes. (19211771)
2009
25
Adrenomedullin expression is up-regulated by acute hypobaric hypoxia in the cerebral cortex of the adult rat. (18371176)
2008
26
High incidence of t (11; 18)/API2-MALT1 and BCL10 aberrant nuclear expression in pulmonary mucosa-associated lymphoid tissue lymphomas]. (19080537)
2008
27
Nucleoside reverse transcriptase inhibitors prevent HIV protease inhibitor-induced atherosclerosis by ubiquitination and degradation of protein kinase C. (16822947)
2006
28
Mobile D-loops are a preferred substrate for the Bloom's syndrome helicase. (16670433)
2006
29
Vitrectomy with complete posterior hyaloid removal for ischemic central retinal vein occlusion: series of cases. (15943889)
2005
30
Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein. (15751970)
2005
31
CD209L (L-SIGN) is a receptor for severe acute respiratory syndrome coronavirus. (15496474)
2004
32
The expression of CD19 in 210 cases of childhood acute leukemia and its significance]. (15144712)
2004
33
Gene expression of immunologically important factors in blood cells, milk cells, and mammary tissue of cows. (12647960)
2003
34
Relative influence of epileptic seizures and of epilepsy syndrome on cognitive function. (12886976)
2003
35
Discitis associated with pregnancy and spinal anesthesia. (11812710)
2002
36
The c-myc oncogene: use of a biological prognostic marker as a potential target for gene therapy in melanoma. (12550114)
2002
37
The role of EGF-R expression on patient survival in lung cancer: a systematic review with meta-analysis. (12412692)
2002
38
The regulation of apoptosis by Bcl-2, bcl-X(L), Bcl-2alpha and Bax in chronic liver disease]. (11798540)
2000
39
A standardized feeding regimen for hypertrophic pyloric stenosis decreases length of hospitalization and hospital costs. (10917297)
2000
40
Amplification and overexpression of the MDM4 (MDMX) gene from 1q32 in a subset of malignant gliomas without TP53 mutation or MDM2 amplification. (10626796)
1999
41
Pathological case of the month. Recurrent respiratory papillomatosis. (9559722)
1998
42
Regulation of tyrosine hydroxylase gene expression during transdifferentiation of striatal neurons: changes in transcription factors binding the AP-1 site. (9763463)
1998
43
Hinge-bending motions in annexins: molecular dynamics and essential dynamics of apo-annexin V and of calcium bound annexin V and I. (9862208)
1998
44
A small region in phosducin inhibits G-protein betagamma-subunit function. (9305633)
1997
45
Characterization of epidermal growth factor receptor in human endometrial cells in culture. (7932377)
1994
46
Julia Pastrana, the nondescript: an example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia. (8213906)
1993
47
Screening method for beta-lactamase substrate profiles. (1610546)
1992
48
Apparently silent somatotroph adenomas. (1792191)
1991
49
Long-term combined rIFN-alpha-2a and zidovudine therapy for HIV-associated Kaposi's sarcoma: clinical consequences and side effects. (2258633)
1990
50
Rheumatoid nodulosis: a continuum of extra-articular rheumatoid disease. (515770)
1979

Variations for Hypochondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:

67
id Symbol AA change Variation ID SNP ID
1FGFR3p.Ile538ValVAR_004157
2FGFR3p.Asn540LysVAR_004158rs28933068
3FGFR3p.Asn540ThrVAR_004159
4FGFR3p.Asn540SerVAR_018389
5FGFR3p.Lys650GlnVAR_018390

Clinvar genetic disease variations for Hypochondroplasia:

5 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
2FGFR3NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
3FGFR3NM_000142.4(FGFR3): c.1619A> C (p.Asn540Thr)single nucleotide variantPathogenicrs77722678GRCh37Chr 4, 1807370: 1807370
4FGFR3NM_000142.4(FGFR3): c.1612A> G (p.Ile538Val)single nucleotide variantPathogenicrs80053154GRCh37Chr 4, 1807363: 1807363
5FGFR3NM_000142.4(FGFR3): c.1950G> T (p.Lys650Asn)single nucleotide variantPathogenicrs28928868GRCh37Chr 4, 1807891: 1807891
6FGFR3NM_000142.4(FGFR3): c.1950G> C (p.Lys650Asn)single nucleotide variantPathogenicrs28928868GRCh37Chr 4, 1807891: 1807891
7FGFR3NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln)single nucleotide variantPathogenicrs78311289GRCh37Chr 4, 1807889: 1807889
8FGFR3NM_000142.4(FGFR3): c.1619A> G (p.Asn540Ser)single nucleotide variantPathogenicrs77722678GRCh37Chr 4, 1807370: 1807370
9FGFR3NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys)single nucleotide variantPathogenicrs121913114GRCh37Chr 4, 1803657: 1803657
10FGFR3NM_000142.4(FGFR3): c.833A> G (p.Tyr278Cys)single nucleotide variantPathogenicrs121913115GRCh37Chr 4, 1803655: 1803655
11FGFR3NM_000142.4(FGFR3): c.251C> T (p.Ser84Leu)single nucleotide variantPathogenicrs121913116GRCh37Chr 4, 1801122: 1801122
12FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
13FGFR3NM_000142.4(FGFR3): c.344A> T (p.Gln115Leu)single nucleotide variantPathogenicrs587778769GRCh37Chr 4, 1801215: 1801215
14NP_000133.1: p.Gly65Argundetermined variantPathogenic
15FGFR3NM_000142.4(FGFR3): c.791C> T (p.Thr264Met)single nucleotide variantPathogenicrs587778773GRCh37Chr 4, 1803613: 1803613
16FGFR3NM_000142.4(FGFR3): c.1024G> T (p.Gly342Cys)single nucleotide variantPathogenicrs587778775GRCh37Chr 4, 1805512: 1805512
17FGFR3NM_000142.4(FGFR3): c.1142T> A (p.Val381Glu)single nucleotide variantPathogenicrs587778776GRCh37Chr 4, 1806123: 1806123
18FGFR3NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr)single nucleotide variantPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
19FGFR3NM_000142.4(FGFR3): c.597C> T (p.His199=)single nucleotide variantPathogenicrs587778801GRCh37Chr 4, 1803245: 1803245
20NM_000142.4: c.783A> Csingle nucleotide variantPathogenic
21FGFR3NM_000142.4(FGFR3): c.801G> T (p.Leu267=)single nucleotide variantPathogenicrs587778811GRCh37Chr 4, 1803623: 1803623
22FGFR3NM_000142.4(FGFR3): c.970C> G (p.Leu324Val)single nucleotide variantPathogenicrs587778816GRCh37Chr 4, 1805458: 1805458
23FGFR3NM_000142.4(FGFR3): c.983A> T (p.Asn328Ile)single nucleotide variantPathogenicrs587778817GRCh37Chr 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 31)
idSuper pathwaysScoreTop Affiliating Genes
19.5FGFR1, FGFR3
29.5FGFR1, FGFR3
39.3FGFR1, FGFR2
4
Show member pathways
8.9FGFR1, FGFR2, FGFR3
5
Show member pathways
8.9FGFR1, FGFR2, FGFR3
6
Show member pathways
8.9FGFR1, FGFR2, FGFR3
78.9FGFR1, FGFR2, FGFR3
88.9FGFR1, FGFR2, FGFR3
98.9FGFR1, FGFR2, FGFR3
10
Show member pathways
8.9FGFR1, FGFR2, FGFR3
11
Show member pathways
8.9FGFR1, FGFR2, FGFR3
128.9FGFR1, FGFR2, FGFR3
13
Show member pathways
8.9FGFR1, FGFR2, FGFR3
14
Show member pathways
8.8FGF3, FGFR1, FGFR2
15
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
16
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
17
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
18
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
19
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
20
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
21
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
22
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
23
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
24
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
25
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
268.4FGF3, FGFR1, FGFR2, FGFR3
278.4FGF3, FGFR1, FGFR2, FGFR3
288.4FGF3, FGFR1, FGFR2, FGFR3
298.4FGF3, FGFR1, FGFR2, FGFR3
30
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
31
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3

GO Terms for genes affiliated with Hypochondroplasia

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.0FGFR1, FGFR2
2lung-associated mesenchyme developmentGO:006048410.0FGFR1, FGFR2
3positive regulation of MAPK cascadeGO:00434109.9FGFR2, FGFR3
4positive regulation of cell divisionGO:00517819.9FGF3, FGFR2
5positive regulation of cell cycleGO:00457879.9FGFR1, FGFR2
6positive regulation of mesenchymal cell proliferationGO:00020539.9FGFR1, FGFR2
7positive regulation of cardiac muscle cell proliferationGO:00600459.9FGFR1, FGFR2
8positive regulation of ERK1 and ERK2 cascadeGO:00703749.8FGFR2, FGFR3
9skeletal system morphogenesisGO:00487059.8FGFR1, FGFR2
10bone morphogenesisGO:00603499.8FGFR2, FGFR3
11bone mineralizationGO:00302829.8FGFR2, FGFR3
12branching involved in salivary gland morphogenesisGO:00604459.8FGFR1, FGFR2
13positive regulation of phospholipase activityGO:00105189.6FGFR1, FGFR2, FGFR3
14regulation of multicellular organism growthGO:00400149.5FGFR2, NPPC
15protein autophosphorylationGO:00467779.4FGFR1, FGFR2, FGFR3
16lung developmentGO:00303249.3FGFR1, FGFR2
17orbitofrontal cortex developmentGO:00217699.3FGFR1, FGFR2
18Ras protein signal transductionGO:00072659.3FGFR1, FGFR2, FGFR3
19positive regulation of cell proliferationGO:00082849.2FGF3, FGFR1, FGFR3
20activation of MAPKK activityGO:00001869.1FGF3, FGFR1, FGFR2
21post-embryonic developmentGO:00097919.1FGFR2, NPPC
22axon guidanceGO:00074119.0FGFR1, FGFR2, FGFR3
23regulation of phosphatidylinositol 3-kinase signalingGO:00140669.0FGF3, FGFR1, FGFR2, FGFR3
24phosphatidylinositol-mediated signalingGO:00480159.0FGF3, FGFR1, FGFR2, FGFR3
25phosphatidylinositol-3-phosphate biosynthetic processGO:00360928.9FGF3, FGFR1, FGFR2, FGFR3
26epidermal growth factor receptor signaling pathwayGO:00071738.9FGF3, FGFR1, FGFR2, FGFR3
27fibroblast growth factor receptor signaling pathwayGO:00085438.9FGF3, FGFR1, FGFR2, FGFR3
28MAPK cascadeGO:00001658.8FGF3, FGFR1, FGFR2, FGFR3
29vascular endothelial growth factor receptor signaling pathwayGO:00480108.7FGF3, FGFR1, FGFR2, FGFR3
30insulin receptor signaling pathwayGO:00082868.7FGF3, FGFR1, FGFR2, FGFR3
31neurotrophin TRK receptor signaling pathwayGO:00480118.3FGF3, FGFR1, FGFR2, FGFR3
32innate immune responseGO:00450878.1FGF3, FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.9FGFR2, FGFR3
2protein tyrosine kinase activityGO:00047138.4FGF3, FGFR1, FGFR2, FGFR3

Sources for Hypochondroplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet