HCH
MCID: HYP042
MIFTS: 57

Hypochondroplasia (HCH) 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 of skeletal disease characterized by very short stature. hypochondroplasia is similar to achondroplasia, but the features tend to be milder. people with hypochondroplasia usually have very short stature, large head, accentuated lordosis, short arms and legs, and broad, short hands and feet. other features include a limited range of motion in the elbows, lordosis, and bowed legs. uncommon symptoms may include learning difficulties and convulsions. hypochondroplasia is caused by mutations in the fgfr3 gene and is inherited in an autosomal dominant fashion. treatment is symptomatic and may include surgery (laminectomy and decompression) to treat lumbar (low back) spinal stenosis (nerve compression caused by the the spine defects), physical therapy, and medication. trials of growth hormone treatment in hypochondroplasia have shown good results in a few cases. last updated: 3/17/2017

MalaCards based summary: Hypochondroplasia, also known as HCH, is related to muenke syndrome and thanatophoric dysplasia, type i, and has symptoms including Array, Array and Array. 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.

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...

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

Wikipedia:71 Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in... 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 56)
idRelated DiseaseScoreTop Affiliating Genes
1muenke syndrome29.6FGFR2, FGFR3
2thanatophoric dysplasia, type i28.3FGF3, FGFR1, FGFR2, FGFR3, NPPC, SHOX
3achondroplasia11.3
4autism susceptibility, x-linked 210.1FGFR3, SHOX
5short stature with nonspecific skeletal abnormalities10.1FGFR3, NPPC
6antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.1FGFR2, FGFR3
7dykes markes harper syndrome10.1FGFR3, SHOX
8cervical spinal canal and spinal cord meningioma10.1FGFR2, FGFR3
9aica-ribosiduria due to atic deficiency10.1FGFR2, FGFR3
10acanthosis nigricans10.1
11lingual-facial-buccal dyskinesia10.0FGFR2, FGFR3
12slti salem syndrome10.0FGFR3, NPPC
13leg dermatosis10.0FGFR2, FGFR3
14breast cancer10.0
15t cell immunodeficiency primary10.0FGFR1, FGFR3
16autosomal genetic disease10.0FGFR2, FGFR3
17pkp1-related ectodermal dysplasia/skin fragility syndrome9.9FGFR1, FGFR2
18sp7-related osteogenesis imperfecta9.9FGFR2, FGFR3, SHOX
19pitx3-related anterior segment mesenchymal dysgenesis9.9FGFR1, FGFR2
20hypoparathyroidism9.9FGFR2, FGFR3
21acrofacial dysostosis, palagonia type9.9FGFR1, FGFR2
22ovarian epithelial cancer9.9FGFR1, FGFR3
23skeletal dysplasias9.9
24skeletal dysplasia9.9
25epidemic typhus9.9FGFR1, FGFR2
26early myoclonic encephalopathy9.9FGFR1, FGFR3
27dwarfism9.8
28familial porphyria cutanea tarda9.8FGFR1, FGFR2, FGFR3
29hartsfield syndrome9.8FGFR1, FGFR2, FGFR3
30pointer syndrome9.8FGFR1, FGFR2, FGFR3
31osteoglophonic dysplasia9.8FGFR1, FGFR2, FGFR3
32scaphocephaly, maxillary retrusion, and mental retardation9.8FGFR1, FGFR2, FGFR3
33apert syndrome9.8FGFR1, FGFR2, FGFR3
34cervical cancer, somatic9.8FGFR1, FGFR2, FGFR3
35robinow-sorauf syndrome9.8FGFR1, FGFR2, FGFR3
36bone structure disease9.8FGFR1, FGFR2, FGFR3
37atrophy of testis9.8FGFR1, FGFR2, FGFR3
38hypogonadotropic hypogonadism 2 with or without anosmia9.8FGFR1, FGFR2, FGFR3
39cutaneous leishmaniasis9.8FGFR1, FGFR2, FGFR3
40hepatitis c virus9.7
41hepatitis9.7
42motor neuron disease9.7
43hepatitis c9.7
44neuronitis9.7
45taeniasis9.7FGF3, FGFR1, FGFR2
46pancreatic cystadenoma9.7FGFR1, FGFR2
47retinoblastoma9.7
48insulin-like growth factor i9.7
49leri-weill dyschondrosteosis9.7
50spinal stenosis9.7

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:

 54 64 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly64 54 Occasional (29-5%) HP:0000256
2 abnormality of the metaphyses64 54 Frequent (79-30%) HP:0000944
3 brachydactyly syndrome64 54 Very frequent (99-80%) HP:0001156
4 intellectual disability64 54 Occasional (29-5%) HP:0001249
5 short toe64 54 Very frequent (99-80%) HP:0001831
6 abnormality of pelvic girdle bone morphology64 54 Frequent (79-30%) HP:0002644
7 scoliosis64 54 Occasional (29-5%) HP:0002650
8 skeletal dysplasia64 54 Very frequent (99-80%) HP:0002652
9 osteoarthritis64 54 Occasional (29-5%) HP:0002758
10 abnormality of the femur64 54 Frequent (79-30%) HP:0002823
11 genu varum64 54 Frequent (79-30%) HP:0002970
12 micromelia64 54 Very frequent (99-80%) HP:0002983
13 hyperlordosis64 54 Occasional (29-5%) HP:0003307
14 abnormal form of the vertebral bodies64 54 Very frequent (99-80%) HP:0003312
15 spinal canal stenosis64 54 Occasional (29-5%) HP:0003416
16 joint hyperflexibility64 54 Frequent (79-30%) HP:0005692
17 bowing of the long bones54 Occasional (29-5%)
18 abnormality of the elbow64 54 Frequent (79-30%) HP:0009811
19 sleep apnea64 54 Occasional (29-5%) HP:0010535
20 childhood onset short-limb short stature64 54 Very frequent (99-80%) HP:0011405
21 malar flattening64 HP:0000272
22 limited elbow extension64 HP:0001377
23 frontal bossing64 HP:0002007
24 lumbar hyperlordosis64 HP:0002938
25 flared metaphysis64 HP:0003015
26 short long bone64 HP:0003026
27 aplasia/hypoplasia of the extremities64 HP:0009815

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 213180
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 213168
3HormonesPhase 214415
4Natriuretic Peptide, C-Type6
5Natriuretic Agents1697

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 116)
idTitleAuthorsYear
1
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. (28181399)
2017
2
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3. (27507911)
2016
3
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. (26814021)
2016
4
Criteria for radiologic diagnosis of hypochondroplasia in neonates. (26867606)
2016
5
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. (25809207)
2015
6
Low bone mineral density in achondroplasia and hypochondroplasia. (26716907)
2015
7
Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis. (26555758)
2015
8
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. (25387261)
2014
9
An association of hypochondroplasia and immune deficiency. (24756051)
2014
10
Growth hormone treatment in patients with hypochondroplasia. (25531227)
2014
11
Homozygous N540K hypochondroplasia--first report: radiological and clinical features. (24715719)
2014
12
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? (25505998)
2014
13
Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome? (24630288)
2014
14
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. (24839128)
2014
15
Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia. (25183602)
2014
16
Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort. (25323764)
2014
17
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. (23726269)
2013
18
Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. (23459260)
2013
19
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review. (24411048)
2013
20
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
21
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. (23165795)
2012
22
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. (23045425)
2012
23
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. (22137367)
2012
24
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. (22302603)
2012
25
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. (22888019)
2012
26
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. (22903874)
2012
27
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. (23149434)
2012
28
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). (21873755)
2011
29
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. (21225389)
2011
30
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. (20226364)
2010
31
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. (21510009)
2010
32
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
33
Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. (20890030)
2010
34
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. (17895900)
2008
35
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? (18583390)
2008
36
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
37
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. (17256796)
2007
38
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. (16912704)
2006
39
Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between dyschondrosteosis, Turner syndrome, and hypochondroplasia. (16796318)
2006
40
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
41
Prenatal diagnosis of hypochondroplasia: report of two cases. (16575888)
2006
42
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. (16354969)
2006
43
Disproportionate stature but normal height in hypochondroplasia. (15909185)
2005
44
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
45
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. (16418051)
2005
46
Medial temporal lobe dysgenesis in hypochondroplasia. (16222682)
2005
47
Retinoblastoma and hypochondroplasia: a case report of two germline mutations arising simultaneously. (16020314)
2005
48
Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. (15345118)
2004
49
Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period. (14755409)
2004
50
The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. (12733711)
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)SNVPathogenic/ Likely pathogenicrs78311289GRCh37Chr 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_ 001163213.1(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 variantPathogenic
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> CSNVPathogenic
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 32)
idSuper pathwaysScoreTop Affiliating Genes
19.2FGFR1, FGFR3
29.2FGFR1, FGFR3
39.0FGFR1, FGFR2
4
Show member pathways
8.6FGFR1, FGFR2, FGFR3
5
Show member pathways
8.6FGFR1, FGFR2, FGFR3
68.6FGFR1, FGFR2, FGFR3
78.6FGFR1, 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
12
Show member pathways
8.6FGFR1, FGFR2, FGFR3
138.6FGFR1, FGFR2, FGFR3
148.6FGFR1, FGFR2, FGFR3
15
Show member pathways
8.6FGFR1, FGFR2, FGFR3
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
23
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
24
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
25
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
268.1FGF3, FGFR1, FGFR2, FGFR3
27
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
28
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
29
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
30
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
318.1FGF3, FGFR1, FGFR2, FGFR3
32
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 34)
idNameGO IDScoreTop Affiliating Genes
1bone mineralizationGO:003028210.2FGFR2, FGFR3
2bone morphogenesisGO:006034910.2FGFR2, FGFR3
3endochondral bone growthGO:000341610.2FGFR2, FGFR3
4positive regulation of cell divisionGO:005178110.1FGF3, FGFR2
5chondrocyte differentiationGO:000206210.0FGFR1, FGFR3
6post-embryonic developmentGO:000979110.0FGFR2, NPPC
7regulation of multicellular organism growthGO:004001410.0FGFR2, NPPC
8branching involved in salivary gland morphogenesisGO:00604459.8FGFR1, FGFR2
9fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
10inner ear morphogenesisGO:00424729.8FGFR1, FGFR2
11lung-associated mesenchyme developmentGO:00604849.8FGFR1, FGFR2
12mesenchymal cell differentiationGO:00487629.8FGFR1, FGFR2
13midbrain developmentGO:00309019.8FGFR1, FGFR2
14orbitofrontal cortex developmentGO:00217699.8FGFR1, FGFR2
15positive regulation of cardiac muscle cell proliferationGO:00600459.8FGFR1, FGFR2
16positive regulation of cell cycleGO:00457879.8FGFR1, FGFR2
17positive regulation of mesenchymal cell proliferationGO:00020539.7FGFR1, FGFR2
18cell-cell signalingGO:00072679.7FGF3, FGFR2, FGFR3
19skeletal system morphogenesisGO:00487059.5FGFR1, FGFR2
20skeletal system developmentGO:00015019.3FGFR1, FGFR3, SHOX
21positive regulation of MAPK cascadeGO:00434109.3FGFR1, FGFR2, FGFR3
22positive regulation of phospholipase activityGO:00105189.3FGFR1, FGFR2, FGFR3
23protein autophosphorylationGO:00467779.2FGFR1, FGFR2, FGFR3
24ureteric bud developmentGO:00016579.0FGFR1, FGFR2
25ventricular zone neuroblast divisionGO:00218479.0FGFR1, FGFR2
26fibroblast growth factor receptor signaling pathwayGO:00085438.9FGF3, FGFR1, FGFR2, FGFR3
27MAPK cascadeGO:00001658.9FGF3, FGFR1, FGFR2, FGFR3
28peptidyl-tyrosine phosphorylationGO:00181088.8FGF3, FGFR1, FGFR2, FGFR3
29phosphatidylinositol phosphorylationGO:00468548.8FGF3, FGFR1, FGFR2, FGFR3
30phosphatidylinositol-3-phosphate biosynthetic processGO:00360928.8FGF3, FGFR1, FGFR2, FGFR3
31phosphatidylinositol-mediated signalingGO:00480158.8FGF3, FGFR1, FGFR2, FGFR3
32positive regulation of cell proliferationGO:00082848.8FGF3, FGFR1, FGFR2, FGFR3
33positive regulation of GTPase activityGO:00435478.8FGF3, FGFR1, FGFR2, FGFR3
34regulation of phosphatidylinositol 3-kinase signalingGO:00140668.7FGF3, FGFR1, FGFR2, FGFR3

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:00171349.3FGFR1, FGFR2, FGFR3
2fibroblast growth factor-activated receptor activityGO:00050079.3FGFR1, FGFR2, FGFR3
3nucleotide bindingGO:00001669.3FGFR1, FGFR2, FGFR3
4protein kinase activityGO:00046729.2FGFR1, FGFR2, FGFR3
51-phosphatidylinositol-3-kinase activityGO:00163038.8FGF3, FGFR1, FGFR2, FGFR3
6phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469348.8FGF3, FGFR1, FGFR2, FGFR3
7protein tyrosine kinase activityGO:00047138.7FGF3, FGFR1, FGFR2, FGFR3
8transmembrane receptor protein tyrosine kinase activityGO:00047148.6FGFR1, FGFR2, FGFR3
9Ras guanyl-nucleotide exchange factor activityGO:00050888.6FGF3, FGFR1, FGFR2, FGFR3

Sources for Hypochondroplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
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27GTR
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