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 52 11 71 23 48 24 25 54 70 27 12 50 13
Hch 48 25 70
 
Hypochondrodysplasia 25

Characteristics:

Orphanet epidemiological data:

54
hypochondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
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:

OMIM52 146000
Disease Ontology11 DOID:0080041
Orphanet54 ORPHA429
ICD10 via Orphanet31 Q77.4
UMLS via Orphanet69 C0410529
MedGen37 C0410529

Summaries for Hypochondroplasia

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NIH Rare Diseases:48 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 Decreased human cytomegalovirus (HCMV) strain AD169 replication and craniofacial.

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.

UniProtKB/Swiss-Prot:70 Hypochondroplasia: Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.

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

Wikipedia:71 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 & Phenotypes for Hypochondroplasia

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Symptoms by clinical synopsis from OMIM:

146000

Clinical features from OMIM:

146000

Human phenotypes related to Hypochondroplasia:

 64 54 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly syndrome64 54 hallmark (90%) Very frequent (99-80%) HP:0001156
2 short toe64 54 hallmark (90%) Very frequent (99-80%) HP:0001831
3 skeletal dysplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0002652
4 micromelia64 54 hallmark (90%) Very frequent (99-80%) HP:0002983
5 abnormal form of the vertebral bodies64 54 hallmark (90%) Very frequent (99-80%) HP:0003312
6 short stature64 hallmark (90%) HP:0004322
7 joint hypermobility64 typical (50%) HP:0001382
8 abnormality of pelvic girdle bone morphology64 54 typical (50%) Frequent (79-30%) HP:0002644
9 abnormality of the femur64 54 typical (50%) Frequent (79-30%) HP:0002823
10 genu varum64 54 typical (50%) Frequent (79-30%) HP:0002970
11 abnormality of the elbow64 54 typical (50%) Frequent (79-30%) HP:0009811
12 macrocephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000256
13 intellectual disability64 54 occasional (7.5%) Occasional (29-5%) HP:0001249
14 apnea64 occasional (7.5%) HP:0002104
15 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
16 osteoarthritis64 54 occasional (7.5%) Occasional (29-5%) HP:0002758
17 hyperlordosis64 54 occasional (7.5%) Occasional (29-5%) HP:0003307
18 spinal canal stenosis64 54 occasional (7.5%) Occasional (29-5%) HP:0003416
19 cognitive impairment64 occasional (7.5%) HP:0100543
20 malar flattening64 HP:0000272
21 limited elbow extension64 HP:0001377
22 frontal bossing64 HP:0002007
23 lumbar hyperlordosis64 HP:0002938
24 flared metaphysis64 HP:0003015
25 short long bone64 HP:0003026
26 aplasia/hypoplasia of the extremities64 HP:0009815
27 childhood onset short-limb short stature64 54 Very frequent (99-80%) HP:0011405
28 abnormality of the metaphyses54 Frequent (79-30%)
29 joint hyperflexibility54 Frequent (79-30%)
30 bowing of the long bones54 Occasional (29-5%)
31 sleep apnea54 Occasional (29-5%)

GenomeRNAi Phenotypes related to Hypochondroplasia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00248-A9.4FGFR1, FGFR2, FGFR3

MGI Mouse Phenotypes related to Hypochondroplasia according to GeneCards Suite gene sharing:

41
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

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 Hypochondroplasia27 24 FGFR3

Anatomical Context for Hypochondroplasia

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MalaCards organs/tissues related to Hypochondroplasia:

36
Bone, Temporal lobe, Skin, Bone marrow

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
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3. (27507911)
2016
3
Criteria for radiologic diagnosis of hypochondroplasia in neonates. (26867606)
2016
4
Low bone mineral density in achondroplasia and hypochondroplasia. (26716907)
2015
5
Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis. (26555758)
2015
6
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. (25809207)
2015
7
Growth hormone treatment in patients with hypochondroplasia. (25531227)
2014
8
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? (25505998)
2014
9
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. (25387261)
2014
10
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. (24839128)
2014
11
Homozygous N540K hypochondroplasia--first report: radiological and clinical features. (24715719)
2014
12
Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome? (24630288)
2014
13
An association of hypochondroplasia and immune deficiency. (24756051)
2014
14
Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort. (25323764)
2014
15
Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia. (25183602)
2014
16
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
17
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review. (24411048)
2013
18
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. (23726269)
2013
19
Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. (23459260)
2013
20
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. (23045425)
2012
21
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. (23149434)
2012
22
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. (22137367)
2012
23
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. (23165795)
2012
24
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. (22903874)
2012
25
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. (22302603)
2012
26
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. (22888019)
2012
27
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). (21873755)
2011
28
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. (21225389)
2011
29
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. (20226364)
2010
30
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. (21510009)
2010
31
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
32
Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. (20890030)
2010
33
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. (17895900)
2008
34
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? (18583390)
2008
35
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
36
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. (17256796)
2007
37
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
38
Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between dyschondrosteosis, Turner syndrome, and hypochondroplasia. (16796318)
2006
39
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. (16354969)
2006
40
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. (16912704)
2006
41
Prenatal diagnosis of hypochondroplasia: report of two cases. (16575888)
2006
42
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. (16418051)
2005
43
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
44
Disproportionate stature but normal height in hypochondroplasia. (15909185)
2005
45
Medial temporal lobe dysgenesis in hypochondroplasia. (16222682)
2005
46
Retinoblastoma and hypochondroplasia: a case report of two germline mutations arising simultaneously. (16020314)
2005
47
Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. (15345118)
2004
48
Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period. (14755409)
2004
49
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. (12476453)
2003
50
Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia]. (15022403)
2003

Variations for Hypochondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:

70
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:003028210.2FGFR2, FGFR3
2bone morphogenesisGO:006034910.2FGFR2, FGFR3
3positive regulation of cell divisionGO:005178110.1FGF3, FGFR2
4chondrocyte differentiationGO:000206210.0FGFR1, FGFR3
5post-embryonic developmentGO:000979110.0FGFR2, NPPC
6regulation of multicellular organism growthGO:004001410.0FGFR2, NPPC
7branching involved in salivary gland morphogenesisGO:00604459.8FGFR1, FGFR2
8fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
9inner ear morphogenesisGO:00424729.8FGFR1, FGFR2
10lung-associated mesenchyme developmentGO:00604849.8FGFR1, FGFR2
11mesenchymal cell differentiationGO:00487629.8FGFR1, FGFR2
12midbrain developmentGO:00309019.8FGFR1, FGFR2
13orbitofrontal cortex developmentGO:00217699.8FGFR1, FGFR2
14positive regulation of cardiac muscle cell proliferationGO:00600459.8FGFR1, FGFR2
15positive regulation of cell cycleGO:00457879.8FGFR1, FGFR2
16positive regulation of mesenchymal cell proliferationGO:00020539.7FGFR1, FGFR2
17cell-cell signalingGO:00072679.7FGF3, FGFR2, FGFR3
18skeletal system morphogenesisGO:00487059.5FGFR1, FGFR2
19skeletal system developmentGO:00015019.3FGFR1, FGFR3, SHOX
20positive regulation of MAPK cascadeGO:00434109.3FGFR1, FGFR2, FGFR3
21positive regulation of phospholipase activityGO:00105189.3FGFR1, FGFR2, FGFR3
22protein autophosphorylationGO:00467779.2FGFR1, FGFR2, FGFR3
23ureteric bud developmentGO:00016579.0FGFR1, FGFR2
24ventricular zone neuroblast divisionGO:00218479.0FGFR1, FGFR2
25fibroblast growth factor receptor signaling pathwayGO:00085438.9FGF3, FGFR1, FGFR2, FGFR3
26MAPK cascadeGO:00001658.9FGF3, FGFR1, FGFR2, FGFR3
27peptidyl-tyrosine phosphorylationGO:00181088.8FGF3, FGFR1, FGFR2, FGFR3
28phosphatidylinositol phosphorylationGO:00468548.8FGF3, FGFR1, FGFR2, FGFR3
29phosphatidylinositol-3-phosphate biosynthetic processGO:00360928.8FGF3, FGFR1, FGFR2, FGFR3
30phosphatidylinositol-mediated signalingGO:00480158.8FGF3, FGFR1, FGFR2, FGFR3
31positive regulation of cell proliferationGO:00082848.8FGF3, FGFR1, FGFR2, FGFR3
32positive regulation of GTPase activityGO:00435478.8FGF3, FGFR1, FGFR2, FGFR3
33regulation of phosphatidylinositol 3-kinase signalingGO:00140668.7FGF3, FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:00171349.2FGFR1, FGFR2, FGFR3
2fibroblast growth factor-activated receptor activityGO:00050079.2FGFR1, FGFR2, FGFR3
31-phosphatidylinositol-3-kinase activityGO:00163038.7FGF3, FGFR1, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469348.7FGF3, FGFR1, FGFR2, FGFR3
5protein tyrosine kinase activityGO:00047138.6FGF3, FGFR1, FGFR2, FGFR3
6Ras guanyl-nucleotide exchange factor activityGO:00050888.1FGF3, FGFR1, FGFR2, FGFR3

Sources for Hypochondroplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
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32ICD9CM
33IUPHAR
34KEGG
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41MGI
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63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet