HCH
MCID: HYP042
MIFTS: 70

Hypochondroplasia (HCH) malady

Bone diseases, Fetal diseases categories

Summaries for Hypochondroplasia

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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: Hypochondroplasia, also known as HCH, is related to achondroplasia and thanatophoric dysplasia, and has symptoms including hyperextensible joints/articular hyperlaxity, short foot/brachydactyly of toes and femur anomaly/absence/agenesis/hypoplasia/bifurcation. An important gene associated with Hypochondroplasia is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. The compounds paclitaxel and heparin have been mentioned in the context of this disorder. Affiliated tissues include bone, temporal lobe and skin, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Disease Ontology:8 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:21 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.

Wikipedia:63 Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the... more...

Description from OMIM:46 146000

GeneReviews summary for hypochondroplasia

Aliases & Classifications for Hypochondroplasia

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8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
hypochondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

hypochondroplasia 8 9 63 19 42 20 22 21 46 10 44 48
hch 63 42 21
hypochondrodysplasia 63 21
hhh syndrome 60


External Ids:

Disease Ontology8 DOID:0080041
OMIM46 146000
ICD10 via Orphanet26 Q77.4
SNOMED-CT via Orphanet57 205468002
UMLS via Orphanet61 C0410529

Related Diseases for Hypochondroplasia

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17GeneCards, 18GeneDecks
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Diseases related to Hypochondroplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia31.1FGFR2, FGF3, FGFR3
2thanatophoric dysplasia30.5FGFR2, FGFR3
3breast cancer30.3FGFR2, FGF3, FGFR1, FGF2, TK1
4acanthosis nigricans30.3IGF1, FGFR2, FGFR3
5dwarfism30.1FGFR3, FGFR1, FGFR2, IGF1, SHOX
6muenke syndrome29.9FGFR3, FGFR1, FGFR2
7turner syndrome29.9IGF1, SHOX
8retinoblastoma29.9ATF2, FGFR2, FGF3, FGFR3
9ornithine translocase deficiency10.5
10osteochondroma10.0FGFR3
11hepatitis c10.0
12neuronitis10.0
13hair disease10.0
14hepatitis10.0
15motor neuron disease10.0
16osteoglophonic dysplasia10.0FGFR1
17hyperparathyroidism10.0FGF3
18cervical cancer10.0FGFR3
19thyroid cancer10.0FGFR2
20beare-stevenson cutis gyrata syndrome10.0FGFR2
21meningioma10.0FGFR2
22lung cancer10.0IGF1
23noonan syndrome10.0IGF1
24antley-bixler syndrome10.0FGFR2
25growth retardation-mild developmental delay-chronic hepatitis syndrome10.0IGF1
26ovarian cancer10.0FGF3, FGFR2
27ladd syndrome10.0FGFR3, FGFR2
28endometrial carcinoma10.0FGF3, FGFR2
29syndactyly10.0FGFR3, FGFR2
30infectious mononucleosis10.0FGFR1, FGFR2
31cleft lip10.0FGFR1
32colon cancer10.0IGF1
33fgfr-related craniosynostosis syndromes10.0FGFR2, FGFR1, FGFR3
34jackson-weiss syndrome10.0FGFR2, FGFR1, FGFR3
35acrocephalosyndactylia10.0FGFR3, FGFR1, FGFR2
36saethre-chotzen syndrome10.0FGFR3, FGFR1, FGFR2
37hypogonadism10.0FGFR1, IGF1
38stomach cancer10.0FGFR2, FGF3, FGFR3
39synostosis10.0FGFR3, FGFR1, FGFR2
40cleft palate10.0FGFR1, FGFR2
41developmental disabilities10.0FGFR3, FGFR1, FGFR2
42skeletal dysplasias10.0SHOX, FGFR2, FGFR1, FGFR3
43adenocarcinoma10.0TK1, FGFR1, FGFR2
44adenoma10.0FGFR1, FGF3, IGF1
45teratocarcinoma10.0FGF2, FGFR2
46alzheimer's disease10.0FGFR3, FGFR1, ATF2
47bladder carcinoma10.0FGFR2, FGFR3, FGF2
48short stature10.0FGFR3, IGF1, SHOX
49intermittent claudication10.0FGF2
50kaposi's sarcoma10.0FGF2, FGF3, FGFR2

Graphical network of the top 20 diseases related to Hypochondroplasia:



Diseases related to hypochondroplasia

Clinical Features for Hypochondroplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

146000

Clinical synopsis from OMIM:

146000

Symptoms:

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

Drugs & Therapeutics for Hypochondroplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hypochondroplasia

Drug clinical trials:

Search ClinicalTrials for Hypochondroplasia

Search NIH Clinical Center for Hypochondroplasia

Search CenterWatch for Hypochondroplasia

Genetic Tests for Hypochondroplasia

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20GeneTests, 22GTR
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Genetic tests related to Hypochondroplasia:

id Genetic test Affiliating Genes
1 Hypochondroplasia20 22 FGFR3

Anatomical Context for Hypochondroplasia

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32MalaCards
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MalaCards organs/tissues related to Hypochondroplasia:

32
Bone, Temporal lobe, Skin, Bone marrow

Animal Models for Hypochondroplasia or affiliated genes

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36MGI
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Publications for Hypochondroplasia

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50PubMed
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Articles related to Hypochondroplasia:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
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
2
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review. (24411048)
2013
3
Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. (23459260)
2013
4
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. (23045425)
2012
5
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. (23165795)
2012
6
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. (22903874)
2012
7
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. (22137367)
2012
8
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. (22302603)
2012
9
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. (22888019)
2012
10
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. (21225389)
2011
11
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? (18583390)
2008
12
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
13
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. (16354969)
2006
14
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. (16912704)
2006
15
Medial temporal lobe dysgenesis in hypochondroplasia. (16222682)
2005
16
Disproportionate stature but normal height in hypochondroplasia. (15909185)
2005
17
Retinoblastoma and hypochondroplasia: a case report of two germline mutations arising simultaneously. (16020314)
2005
18
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. (11754059)
2001
19
Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia. (11297088)
2001
20
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. (11071087)
2000
21
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. (11015576)
2000
22
Clinical and radiographic features of a family with hypochondroplasia owing to a novel asn540ser mutation in the fibroblast growth factor receptor 3 gene. (10777366)
2000
23
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. (10482885)
1999
24
Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia. (9932857)
1999
25
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. (10360393)
1999
26
Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus. (10564875)
1999
27
Achondroplasia-hypochondroplasia complex in a newborn infant. (10360392)
1999
28
Growth hormone therapy in hypochondroplasia. (10102069)
1999
29
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. (9869286)
1998
30
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. (10215410)
1998
31
Comparison of clinical-radiological and molecular findings in hypochondroplasia. (9450868)
1998
32
FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients. (9554479)
1998
33
Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. (9372781)
1997
34
Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia]. (8949408)
1996
35
Possible genetic heterogeneity in hypochondroplasia. (7666407)
1995
36
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. (7702086)
1995
37
A common FGFR3 gene mutation in hypochondroplasia. (8589686)
1995
38
Hypochondroplasia (20301650)
1993
39
Growth of children with hypochondroplasia treated with growth hormone for up to three years. (1806487)
1991
40
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
41
Achondroplasia-hypochondroplasia complex. (3591840)
1987
42
Prenatal diagnosis of hypochondroplasia. (3911194)
1985
43
The radiographic manifestations of hypochondroplasia. (421428)
1979
44
Hypochondroplasia: clinical and radiological aspects in 39 cases. (472320)
1979
45
Hypochondroplasia. (727810)
1978
46
Hypochondroplasia. (1098822)
1975
47
Hypochondroplasia. (1158967)
1975
48
Probable case of achondroplasia-hypochondroplasia compound. (4461068)
1974
49
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. (4697848)
1973
50
Hypochondroplasia. (5564166)
1971

Genetic Variations for Hypochondroplasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hypochondroplasia:

62
id Symbol AA change Variation ID SNP ID
1FGFR3p.Ile538ValVAR_004157
2FGFR3p.Asn540LysVAR_004158rs28933068
3FGFR3p.Asn540ThrVAR_004159
4FGFR3p.Asn540SerVAR_018389
5FGFR3p.Lys650GlnVAR_018390

Expression for genes affiliated with Hypochondroplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypochondroplasia

Search GEO for disease gene expression data for Hypochondroplasia.

Pathways for genes affiliated with Hypochondroplasia

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Sources:
51QIAGEN, 37NCBI BioSystems Database, 59Tocris Bioscience, 52R&D Systems, 49PharmGKB, 53Reactome, 29KEGG, 4Cell Signaling Technology, 12EMD Millipore
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Pathways related to Hypochondroplasia according to GeneCards/GeneDecks:

(show all 48)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8FGFR3, FGFR2
2
Hide members
9.7FGF2, FGFR3
39.6FGF2, FGFR1
49.6FGF2, FGFR1
59.6FGF2, FGFR2
6
Hide members
9.5FGFR2, ATF2
7
Hide members
9.5FGFR2, ATF2
89.4FGFR2, FGFR1, FGFR3
9
Hide members
9.4FGFR2, FGFR1, FGFR3
109.4FGFR3, FGFR1, FGFR2
11
Hide members
9.4FGFR3, FGFR1, FGFR2
12
Hide members
9.3FGF2, FGF3, FGFR2
13
Hide members
9.2ATF2, FGFR2, FGF3
14
Hide members
9.2FGFR1, FGFR2, ATF2
159.1IGF1, FGFR1, FGF2
16
Hide members
9.0FGFR2, FGF3, FGFR1, FGFR3
17
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
188.9FGFR2, FGFR1, FGFR3, FGF2
198.9FGF2, FGFR3, FGFR1, FGFR2
208.9FGFR2, FGFR1, FGFR3, FGF2
218.9FGF2, FGFR3, FGFR1, FGFR2
228.8FGF2, FGFR3, FGFR1, IGF1
238.8FGF2, FGFR1, FGF3, IGF1
24
Hide members
8.6FGFR2, FGF3, FGFR1, FGFR3, FGF2
25
Hide members
8.6FGFR2, FGF3, FGFR1, FGFR3, FGF2
26
Hide members
8.6FGFR2, FGF3, FGFR1, FGFR3, FGF2
27
Hide members
8.6FGFR2, FGF3, FGFR1, FGFR3, FGF2
28
Hide members
8.6FGFR2, FGF3, FGFR1, FGFR3, FGF2
298.6FGFR2, FGF3, FGFR1, FGFR3, FGF2
30
Hide members
8.6FGFR2, FGF3, FGFR1, FGFR3, FGF2
31
Hide members
8.6FGFR2, FGF3, FGFR1, FGFR3, FGF2
32
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8.6FGFR2, FGF3, FGFR1, FGFR3, FGF2
33
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8.4IGF1, FGFR2, FGFR1, FGFR3, FGF2
34
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8.4IGF1, FGFR2, FGFR1, FGFR3, FGF2
35
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8.4IGF1, FGFR2, FGFR1, FGFR3, FGF2
36
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8.3ATF2, IGF1, FGFR2, FGFR1, FGFR3
37
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8.3ATF2, IGF1, FGFR2, FGFR1, FGFR3
38
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8.1FGF2, FGFR3, FGFR1, FGF3, FGFR2, IGF1
39
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8.1IGF1, FGFR2, FGF3, FGFR1, FGFR3, FGF2
408.1IGF1, FGFR2, FGF3, FGFR1, FGFR3, FGF2
41
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8.1IGF1, FGFR2, FGF3, FGFR1, FGFR3, FGF2
42
Development FGF-family signaling
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8.1ATF2, FGFR2, FGF3, FGFR1, FGFR3, FGF2
43
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8.1ATF2, FGFR2, FGF3, FGFR1, FGFR3, FGF2
44
Hide members
7.9ATF2, FGF2, FGFR3, FGFR1, FGFR2, IGF1
45
Hide members
7.9ATF2, IGF1, FGFR2, FGFR1, FGFR3, FGF2
46
Hide members
7.9ATF2, IGF1, FGFR2, FGFR1, FGFR3, FGF2
477.5ATF2, IGF1, FGFR2, FGF3, FGFR1, FGFR3
48
Hide members
7.5ATF2, IGF1, FGFR2, FGF3, FGFR1, FGFR3

Compounds for genes affiliated with Hypochondroplasia

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Hypochondroplasia according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1paclitaxel44 49 1112.4FGFR2
2heparin44 28 11 2413.4FGF3
3SU49841110.1FGFR1, FGFR2
4sucrose octasulfate44 1111.0FGF2, FGFR2
5su66684410.0FGF2, FGFR1
6chlorate449.9FGFR1, FGF2
7sodium chlorate449.9FGFR1, FGF2
8cmdb7449.9FGF2, IGF1
9rhodostomin449.9FGF2, IGF1
10pd 161570599.8FGFR2, FGFR1, FGFR3
11fiin 1 hydrochloride599.8FGFR2, FGFR1, FGFR3
12su 5402599.8FGFR2, FGFR1, FGFR3
13palifermin44 1110.8FGFR2, FGFR1, FGFR3
14Ponatinib 119.8FGFR3, FGFR1, FGFR2
15Regorafenib119.8FGFR2, FGFR1
165-methylthioadenosine449.8FGF2, FGFR2
17steroid449.8FGF3, FGFR2, SHOX
18estrogen449.8TK1, SHOX
19thalidomide44 49 59 1112.6FGFR2, FGFR3, FGF2
20chondroitin sulfate44 2410.6FGF2, FGFR1, FGFR2
21bromodeoxyuridine449.5FGF2, FGFR1, FGFR2
22heparan sulfate44 2410.5FGF2, FGFR1, FGFR2
23phenylalanine449.4FGFR3, FGFR1, FGFR2
24su5402449.4FGF2, FGFR3, FGFR1, FGFR2
25pd 17307444 5910.4FGFR2, FGFR1, FGFR3, FGF2
26agar449.3FGFR2, FGF3, FGFR1, FGF2
27phosphotyrosine449.3ATF2, FGFR2, FGFR1, FGFR3
2812-o-tetradecanoylphorbol 13-acetate449.2FGFR1, FGFR2, ATF2
29ganciclovir44 1110.1TK1, FGF2, FGFR2
30suramin44 28 1111.1FGF2, FGFR1, FGFR2, IGF1
31calcitriol44 59 11 2412.1FGF2, IGF1, ATF2
32ribonucleic acid449.1IGF1, FGFR2, FGFR1
33genistein44 28 59 2 11 2414.0IGF1, FGFR2, FGFR1, FGF2
34sb 20358044 5910.0ATF2, IGF1, FGFR1, FGF2
35h2o2448.9ATF2, FGFR2, FGFR1, FGF2
36oligonucleotide448.9ATF2, FGFR2, FGF3, FGFR1, FGFR3
37pd 98,059448.6ATF2, IGF1, FGFR2, FGFR1, FGF2
38vegf448.5IGF1, FGFR2, FGF3, FGFR1, FGFR3, FGF2
39retinoic acid44 249.5FGF2, FGFR1, FGFR2, IGF1, ATF2
40phosphatidylinositol448.4FGF2, FGFR1, FGFR2, IGF1
41thymidine44 249.3IGF1, FGFR2, FGFR1, FGF2, TK1
42glucose448.3ATF2, IGF1, FGFR2, FGFR1, TKTL1
43tyrosine447.9ATF2, IGF1, FGFR2, FGFR1, FGFR3, TK1
44calcium44 49 11 2410.5ATF2, FGFR2, FGFR1, FGFR3, TKTL1, TK1
45serine447.5ATF2, IGF1, FGFR2, FGFR1, FGFR3, FGF2

GO Terms for genes affiliated with Hypochondroplasia

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16Gene Ontology
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Cellular components related to Hypochondroplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.4FGFR3, FGFR1, FGFR2
2extracellular regionGO:0055767.8FGF2, FGFR3, FGFR1, FGF3, FGFR2, IGF1

Biological processes related to Hypochondroplasia according to GeneCards/GeneDecks:

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.2FGFR3, FGFR1
2substantia nigra developmentGO:02176210.1FGFR3, FGF2
3negative regulation of mitosisGO:04583910.1FGFR2, FGFR3
4lens fiber cell developmentGO:07030710.1FGFR2, FGFR3
5fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.1FGFR2, FGFR1
6ventricular zone neuroblast divisionGO:02184710.1FGFR2, FGFR1
7mesenchymal cell differentiationGO:04876210.0FGFR2, FGFR1
8otic vesicle formationGO:03091610.0FGFR2, FGF3
9bone morphogenesisGO:06034910.0FGFR2, FGFR3
10lung-associated mesenchyme developmentGO:06048410.0FGFR2, FGFR1
11branching involved in salivary gland morphogenesisGO:06044510.0FGFR1, FGFR2
12positive regulation of phospholipase C activityGO:01086310.0FGFR1, FGF2
13positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.9FGF2, FGFR3
14lung lobe morphogenesisGO:0604639.9FGFR2, IGF1
15prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:0605279.9IGF1, FGFR2
16response to axon injuryGO:0486789.9FGFR3, FGF2
17skeletal system morphogenesisGO:0487059.9FGFR2, FGFR1
18positive regulation of cerebellar granule cell precursor proliferationGO:0219409.9IGF1, FGF2
19positive regulation of cell cycleGO:0457879.8FGFR2, FGFR1
20positive regulation of phospholipase activityGO:0105189.8FGFR3, FGFR1, FGFR2
21chondrocyte differentiationGO:0020629.8FGFR1, FGFR3
22glial cell differentiationGO:0100019.8FGF2, IGF1
23peptidyl-tyrosine phosphorylationGO:0181089.8FGFR2, FGFR1, FGFR3
24midbrain developmentGO:0309019.8FGFR2, FGFR1
25organ inductionGO:0017599.7FGF3, FGFR1, FGF2
26ureteric bud developmentGO:0016579.7FGFR1, FGFR2
27protein autophosphorylationGO:0467779.7FGFR3, FGFR1, FGFR2
28regulation of multicellular organism growthGO:0400149.7IGF1, FGFR2
29positive regulation of cell divisionGO:0517819.6FGF2, FGF3, FGFR2
30positive regulation of cardiac muscle cell proliferationGO:0600459.6FGFR2, FGFR1, FGF2
31positive regulation of ERK1 and ERK2 cascadeGO:0703749.6FGF2, FGFR3, FGFR2
32digestive tract developmentGO:0485659.5TK1, FGFR2
33lung alveolus developmentGO:0482869.4FGFR2, IGF1
34positive regulation of mesenchymal cell proliferationGO:0020539.4FGFR1, FGFR2
35skeletal system developmentGO:0015019.4FGFR3, FGFR1, IGF1, SHOX
36positive regulation of MAPK cascadeGO:0434109.3FGFR3, FGFR1, FGFR2, IGF1
37insulin receptor signaling pathwayGO:0082869.0FGFR2, FGF3, FGFR1, FGFR3, FGF2
38fibroblast growth factor receptor signaling pathwayGO:0085439.0FGFR2, FGF3, FGFR1, FGFR3, FGF2
39Fc-epsilon receptor signaling pathwayGO:0380959.0FGFR2, FGF3, FGFR1, FGFR3, FGF2
40epidermal growth factor receptor signaling pathwayGO:0071739.0FGFR2, FGF3, FGFR1, FGFR3, FGF2
41neurotrophin TRK receptor signaling pathwayGO:0480119.0FGF2, FGFR3, FGFR1, FGF3, FGFR2
42phosphatidylinositol-mediated signalingGO:0480158.5FGF2, FGFR3, FGFR1, FGF3, FGFR2, IGF1
43positive regulation of cell proliferationGO:0082848.5IGF1, FGFR2, FGF3, FGFR1, FGFR3, FGF2
44innate immune responseGO:0450878.5ATF2, FGFR2, FGF3, FGFR1, FGFR3, FGF2

Molecular functions related to Hypochondroplasia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:0050079.5FGFR3, FGFR1, FGFR2
2protein tyrosine kinase activityGO:0047139.5FGFR2, FGFR1, FGFR3
3fibroblast growth factor receptor bindingGO:0051049.4FGF2, FGF3
4heparin bindingGO:0082019.2FGF2, FGFR1, FGFR2
5fibroblast growth factor bindingGO:0171349.1FGF2, FGFR3, FGFR1, FGFR2
6growth factor activityGO:0080839.1IGF1, FGF3, FGF2
7protein bindingGO:0055157.2SHOX, IGF1, FGFR2, FGF3, FGFR1, FGFR3

Products for genes affiliated with Hypochondroplasia

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Sources for Hypochondroplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet