MCID: HYP042
MIFTS: 56

Hypochondroplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Hypochondroplasia

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Hypochondroplasia:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM49 146000
Disease Ontology10 DOID:0080041
Orphanet51 429
ICD10 via Orphanet28 Q77.4
UMLS via Orphanet66 C0410529
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 muenke syndrome, 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 FGF signaling pathway and FGFR3 mutant receptor activation. Affiliated tissues include bone, temporal lobe and skin, 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.

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...

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

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

GeneReviews summary for hypochondroplasia

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 65)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia30.1FGF3, FGFR1, FGFR2, FGFR3, NPPC, SHOX
2muenke syndrome29.9FGFR1, FGFR2, FGFR3
3thanatophoric dysplasia, type i29.9FGFR1, FGFR2, FGFR3
4acanthosis nigricans10.4
5skeletal dysplasias10.3
6skeletal dysplasia10.3
7dwarfism10.3
8breast cancer10.2
9langer mesomelic dysplasia10.2FGFR3, SHOX
10von economo's disease10.1FGFR2, FGFR3
11beare-stevenson cutis gyrata syndrome10.1FGFR2, FGFR3
12barbiturate abuse10.1FGFR2, FGFR3
13gonococcal iridocyclitis10.1FGFR2, FGFR3
14hepatitis c virus10.1
15hepatitis10.1
16motor neuron disease10.1
17hepatitis c10.1
18neuronitis10.1
19synovial chondromatosis, familial with dwarfism10.1FGFR1, FGFR3
20multiple symmetrical lipomatosis10.1FGFR2, FGFR3
21alzheimer disease type 110.0FGFR3, GHR
22osteodysplasia familial anderson type10.0FGFR1, FGFR3
23gliosarcoma10.0FGFR1, FGFR3
24pfeiffer syndrome type 1, 2 and 310.0FGFR1, FGFR2
25central retinal artery occlusion10.0FGFR2, FGFR3
26retinoblastoma10.0
27insulin-like growth factor i10.0
28leri-weill dyschondrosteosis10.0
29terminal osseous dysplasia10.0
30spinal stenosis10.0
31down syndrome10.0
32swayback10.0
33secondary syphilis10.0
34bone development disease10.0
35focal epilepsy10.0
36osteochondrodysplasia10.0
37turner syndrome10.0
38spinocerebellar ataxia 510.0FGFR1, FGFR2
39slc16a1-related hyperinsulinism10.0FGFR2, FGFR3, SHOX
40skeleto cardiac syndrome with thrombocytopenia9.9FGFR3, NPPC
41grade iii astrocytoma9.9FGFR1, FGFR3
42tympanic membrane disease9.9GHR, SHOX
43lupus erythematosus9.9FGFR1, FGFR2
44flna-related periventricular nodular heterotopia9.9FGFR1, FGFR2, FGFR3
45plagiocephaly and x-linked mental retardation9.9FGFR1, FGFR2, FGFR3
46osteoglophonic dysplasia9.9FGFR1, FGFR2, FGFR3
47jackson-weiss syndrome9.9FGFR1, FGFR2, FGFR3
48neonatal abstinence syndrome9.9FGFR1, FGFR2, FGFR3
49testicular brenner tumor9.9FGFR1, FGFR2, FGFR3
50acrodermatitis9.9FGFR1, 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

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 32)
id Description Frequency HPO Source Accession
1 brachydactyly syndrome hallmark (90%) HP:0001156
2 short toe hallmark (90%) HP:0001831
3 skeletal dysplasia hallmark (90%) HP:0002652
4 micromelia hallmark (90%) HP:0002983
5 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
6 short stature hallmark (90%) HP:0004322
7 joint hypermobility typical (50%) HP:0001382
8 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
9 abnormality of the femur typical (50%) HP:0002823
10 genu varum typical (50%) HP:0002970
11 abnormality of the elbow typical (50%) HP:0009811
12 macrocephaly occasional (7.5%) HP:0000256
13 intellectual disability occasional (7.5%) HP:0001249
14 apnea occasional (7.5%) HP:0002104
15 scoliosis occasional (7.5%) HP:0002650
16 osteoarthritis occasional (7.5%) HP:0002758
17 hyperlordosis occasional (7.5%) HP:0003307
18 spinal canal stenosis occasional (7.5%) HP:0003416
19 cognitive impairment occasional (7.5%) HP:0100543
20 autosomal dominant inheritance HP:0000006
21 macrocephaly HP:0000256
22 malar flattening HP:0000272
23 brachydactyly syndrome HP:0001156
24 limited elbow extension HP:0001377
25 frontal bossing HP:0002007
26 abnormality of pelvic girdle bone morphology HP:0002644
27 lumbar hyperlordosis HP:0002938
28 genu varum HP:0002970
29 flared metaphysis HP:0003015
30 short long bone HP:0003026
31 aplasia/hypoplasia of the extremities HP:0009815
32 childhood onset short-limb short stature HP:0011405

Drugs & Therapeutics for Hypochondroplasia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Natriuretic Peptide, C-Type4

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 24 FGFR3

Anatomical Context for Hypochondroplasia

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MalaCards organs/tissues related to Hypochondroplasia:

33
Bone, Temporal lobe, Skin, Bone marrow

Animal Models for Hypochondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Hypochondroplasia:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.9FGF3, FGFR1, FGFR2, FGFR3
2MP:00053778.9FGF3, FGFR1, FGFR2, FGFR3
3MP:00053678.7FGFR1, FGFR2, FGFR3, GHR
4MP:00053828.5FGFR1, FGFR2, FGFR3, NPPC
5MP:00053897.8FGF3, FGFR2, FGFR3, GHR, NPPC
6MP:00053907.5FGF3, FGFR1, FGFR2, FGFR3, GHR, NPPC
7MP:00053717.5FGF3, FGFR1, FGFR2, FGFR3, GHR, NPPC
8MP:00107687.4FGF3, FGFR1, FGFR2, FGFR3, GHR, NPPC
9MP:00053787.3FGF3, FGFR1, FGFR2, FGFR3, GHR, NPPC
10MP:00036317.2FGF3, FGFR1, FGFR2, FGFR3, GHR, NPPC

Publications for Hypochondroplasia

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Articles related to Hypochondroplasia:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis. (26555758)
2015
2
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. (25809207)
2015
3
Growth hormone treatment in patients with hypochondroplasia. (25531227)
2014
4
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. (25387261)
2014
5
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. (24839128)
2014
6
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? (25505998)
2014
7
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. (23726269)
2013
8
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. (23045425)
2012
9
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. (23149434)
2012
10
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. (23165795)
2012
11
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. (20453470)
2010
12
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. (20226364)
2010
13
Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. (20890030)
2010
14
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. (17256796)
2007
15
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
16
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
17
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. (16354969)
2006
18
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. (16912704)
2006
19
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. (16418051)
2005
20
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
21
Medial temporal lobe dysgenesis in hypochondroplasia. (16222682)
2005
22
Disproportionate stature but normal height in hypochondroplasia. (15909185)
2005
23
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. (12794698)
2003
24
Hypochondroplasia and stature within normal limits: another family with an Asn540-to-Ser mutation in the fibroblast growth factor receptor 3 gene. (12707965)
2003
25
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. (11754059)
2001
26
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. (11071087)
2000
27
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. (10482885)
1999
28
Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia. (9932857)
1999
29
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. (10405653)
1999
30
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. (9869286)
1998
31
Genotype phenotype correlation in achondroplasia and hypochondroplasia. (9853502)
1998
32
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. (9452043)
1998
33
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. (10215410)
1998
34
Comparison of clinical-radiological and molecular findings in hypochondroplasia. (9450868)
1998
35
FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients. (9554479)
1998
36
Confirmatory linkage of hypochondroplasia to chromosome arm 4p. (7677163)
1995
37
Possible genetic heterogeneity in hypochondroplasia. (7666407)
1995
38
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. (7702086)
1995
39
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. (8012398)
1994
40
Hypochondroplasia (20301650)
1993
41
Basilar impression in a child with hypochondroplasia. (2029297)
1991
42
Growth of children with hypochondroplasia treated with growth hormone for up to three years. (1806487)
1991
43
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
44
Growth and growth hormone therapy in hypochondroplasia. (2239275)
1990
45
Achondroplasia-hypochondroplasia complex. (3591840)
1987
46
Prenatal diagnosis of hypochondroplasia. (3911194)
1985
47
The radiographic manifestations of hypochondroplasia. (421428)
1979
48
Probable case of achondroplasia-hypochondroplasia compound. (4461068)
1974
49
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. (4697848)
1973
50
Hypochondroplasia. A report of five kindreds. (5783850)
1969

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 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3FGFR1, FGFR2
2
Show member pathways
9.1FGF3, FGFR2, FGFR3
39.0FGFR1, FGFR2, FGFR3
49.0FGFR1, FGFR2, FGFR3
59.0FGFR1, FGFR2, FGFR3
69.0FGFR1, FGFR2, FGFR3
79.0FGFR1, FGFR2, FGFR3
8
Show member pathways
9.0FGFR1, FGFR2, FGFR3
99.0FGFR1, FGFR2, FGFR3
10
Show member pathways
9.0FGFR1, FGFR2, FGFR3
11
Angiogenesis (CST)
Show member pathways
9.0FGFR1, FGFR2, FGFR3
12
Show member pathways
9.0FGFR1, FGFR2, FGFR3
139.0FGFR1, FGFR3, GHR
14
Show member pathways
8.9FGF3, FGFR1, FGFR2
15
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3
16
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3
17
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3
188.5FGF3, FGFR1, FGFR2, FGFR3
19
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3
20
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3
21
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3
228.5FGF3, FGFR1, FGFR2, FGFR3
23
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3
248.5FGF3, FGFR1, FGFR2, FGFR3
25
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3
26
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3
27
Show member pathways
8.5FGF3, FGFR1, FGFR2, FGFR3
288.0FGF3, FGFR1, FGFR2, FGFR3, GHR
29
Show member pathways
8.0FGF3, FGFR1, FGFR2, FGFR3, GHR

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:00055767.2FGF3, FGFR1, FGFR2, FGFR3, GHR, NPPC

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

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1JAK-STAT cascadeGO:000725910.3FGFR3, GHR
2lens fiber cell developmentGO:007030710.2FGFR2, FGFR3
3negative regulation of mitotic nuclear divisionGO:004583910.2FGFR2, FGFR3
4positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.2FGFR1, FGFR3
5positive regulation of cell divisionGO:005178110.2FGF3, FGFR2
6positive regulation of tyrosine phosphorylation of Stat3 proteinGO:004251710.1FGFR3, GHR
7positive regulation of cell differentiationGO:004559710.1FGFR3, GHR
8otic vesicle formationGO:003091610.1FGF3, FGFR2
9organ inductionGO:000175910.1FGF3, FGFR1
10bone morphogenesisGO:006034910.1FGFR2, FGFR3
11orbitofrontal cortex developmentGO:002176910.1FGFR1, FGFR2
12ventricular zone neuroblast divisionGO:002184710.1FGFR1, FGFR2
13fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.1FGFR1, FGFR2
14positive regulation of mesenchymal cell proliferationGO:000205310.0FGFR1, FGFR2
15positive regulation of cardiac muscle cell proliferationGO:006004510.0FGFR1, FGFR2
16midbrain developmentGO:003090110.0FGFR1, FGFR2
17lung-associated mesenchyme developmentGO:006048410.0FGFR1, FGFR2
18bone mineralizationGO:003028210.0FGFR2, FGFR3
19positive regulation of cell cycleGO:004578710.0FGFR1, FGFR2
20mesenchymal cell differentiationGO:004876210.0FGFR1, FGFR2
21branching involved in salivary gland morphogenesisGO:006044510.0FGFR1, FGFR2
22ureteric bud developmentGO:00016579.9FGFR1, FGFR2
23chondrocyte differentiationGO:00020629.8FGFR1, FGFR3
24inner ear morphogenesisGO:00424729.6FGFR1, FGFR2
25skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
26positive regulation of MAPK cascadeGO:00434109.5FGFR1, FGFR2, FGFR3
27positive regulation of phospholipase activityGO:00105189.5FGFR1, FGFR2, FGFR3
28protein autophosphorylationGO:00467779.4FGFR1, FGFR2, FGFR3
29peptidyl-tyrosine phosphorylationGO:00181089.4FGFR1, FGFR2, FGFR3
30skeletal system developmentGO:00015019.3FGFR1, FGFR3, SHOX
31negative regulation of cell proliferationGO:00082859.2FGFR2, FGFR3, NPPC
32regulation of multicellular organism growthGO:00400149.1FGFR2, GHR, NPPC
33phosphatidylinositol-mediated signalingGO:00480159.0FGF3, FGFR1, FGFR2, FGFR3
34positive regulation of cell proliferationGO:00082849.0FGF3, FGFR1, FGFR2, FGFR3
35MAPK cascadeGO:00001658.9FGF3, FGFR1, FGFR2, FGFR3
36activation of MAPKK activityGO:00001868.9FGF3, FGFR1, FGFR2, FGFR3
37Ras protein signal transductionGO:00072658.9FGF3, FGFR1, FGFR2, FGFR3
38insulin receptor signaling pathwayGO:00082868.9FGF3, FGFR1, FGFR2, FGFR3
39fibroblast growth factor receptor signaling pathwayGO:00085438.9FGF3, FGFR1, FGFR2, FGFR3
40Fc-epsilon receptor signaling pathwayGO:00380958.8FGF3, FGFR1, FGFR2, FGFR3
41neurotrophin TRK receptor signaling pathwayGO:00480118.8FGF3, FGFR1, FGFR2, FGFR3
42epidermal growth factor receptor signaling pathwayGO:00071738.6FGF3, FGFR1, FGFR2, FGFR3
43axon guidanceGO:00074118.5FGF3, FGFR1, FGFR2, FGFR3
44small GTPase mediated signal transductionGO:00072648.5FGF3, FGFR1, FGFR2, FGFR3
45innate immune responseGO:00450878.4FGF3, FGFR1, FGFR2, FGFR3
46vascular endothelial growth factor receptor signaling pathwayGO:00480108.2FGF3, FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.5FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.5FGFR1, FGFR2, FGFR3
3protein tyrosine kinase activityGO:00047139.0FGFR1, FGFR2, FGFR3
4protein homodimerization activityGO:00428038.0FGFR1, FGFR2, GHR, NPPC

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