HCH
MCID: HYP042
MIFTS: 62

Hypochondroplasia (HCH) malady

Bone, Fetal categories

Summaries for Hypochondroplasia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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NIH Rare Diseases:43 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 abnormal vertebral size/shape, short limbs/micromelia/brachymelia and short hand/brachydactyly. 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 marrow, skin and temporal lobe, 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:64 Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the... more...

Description from OMIM:47 146000

GeneReviews summary for hypochondroplasia

Aliases & Classifications for Hypochondroplasia

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hypochondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

hypochondroplasia 8 9 64 19 43 20 22 21 47 10 45 49
hch 64 43 21
hypochondrodysplasia 64 21
hhh syndrome 19 61
mitochondrial ornithine transporter deficiency 19


External Ids:

Disease Ontology8 DOID:0080041
OMIM47 146000
ICD10 via Orphanet26 Q77.4
SNOMED-CT via Orphanet58 205468002
UMLS via Orphanet62 C0410529

Related Diseases for Hypochondroplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia31.1FGFR3, FGFR2, FGF3
2thanatophoric dysplasia30.5FGFR3, FGFR2
3acanthosis nigricans30.3IGF1, FGFR2, FGFR3
4short stature30.3FGFR3, SHOX, IGF1
5dwarfism30.1IGF1, FGFR2, FGFR1, FGFR3, SHOX
6muenke syndrome29.9FGFR1, FGFR3, FGFR2
7turner syndrome29.9SHOX, IGF1
8skeletal dysplasias29.9SHOX, FGFR2, FGFR1, FGFR3
9ornithine translocase deficiency10.6
10n syndrome10.1
11char syndrome10.1
12hepatitis a10.0
13osteochondroma10.0FGFR3
14osteoglophonic dysplasia10.0FGFR1
15hyperparathyroidism10.0FGF3
16cervical cancer10.0FGFR3
17thyroid cancer10.0FGFR2
18beare-stevenson cutis gyrata syndrome10.0FGFR2
19meningioma10.0FGFR2
20lung cancer10.0IGF1
21noonan syndrome10.0IGF1
22antley-bixler syndrome10.0FGFR2
23ovarian cancer10.0FGFR2, FGF3
24ladd syndrome10.0FGFR3, FGFR2
25endometrial carcinoma10.0FGFR2, FGF3
26syndactyly10.0FGFR2, FGFR3
27infectious mononucleosis10.0FGFR1, FGFR2
28cleft lip10.0FGFR1
29colon cancer10.0IGF1
30jackson-weiss syndrome10.0FGFR3, FGFR1, FGFR2
31fgfr-related craniosynostosis syndromes10.0FGFR3, FGFR1, FGFR2
32acrocephalosyndactylia10.0FGFR3, FGFR1, FGFR2
33saethre-chotzen syndrome10.0FGFR1, FGFR3, FGFR2
34hypogonadism10.0IGF1, FGFR1
35stomach cancer10.0FGFR2, FGFR3, FGF3
36synostosis10.0FGFR2, FGFR1, FGFR3
37cleft palate10.0FGFR2, FGFR1
38developmental disabilities10.0FGFR3, FGFR1, FGFR2
39adenocarcinoma10.0FGFR2, FGFR1, TK1
40adenoma10.0FGF3, IGF1, FGFR1
41teratocarcinoma10.0FGFR2, FGF2
42alzheimer's disease10.0ATF2, FGFR1, FGFR3
43fg syndrome10.0
44spinal stenosis10.0
45leri weill dyschondrosteosis10.0
46mental retardation10.0
47bladder carcinoma10.0FGF2, FGFR3, FGFR2
48intermittent claudication10.0FGF2
49kaposi's sarcoma10.0FGFR2, FGF3, FGF2
50glioblastoma multiforme10.0FGFR2, FGF2, FGFR1

Graphical network of the top 20 diseases related to Hypochondroplasia:



Diseases related to hypochondroplasia

Clinical Features for Hypochondroplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

146000

Clinical synopsis from OMIM:

146000

Symptoms:

49 (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

Drugs & Therapeutics for Hypochondroplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hypochondroplasia:

id Genetic test Affiliating Genes
1 Hypochondroplasia20 22 FGFR3

Anatomical Context for Hypochondroplasia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hypochondroplasia:

33
Bone marrow, Skin, Temporal lobe, Occipital lobe

Animal Models for Hypochondroplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hypochondroplasia

Sources:
51PubMed
See all sources

Articles related to Hypochondroplasia:

(show top 50)    (show all 101)
idTitleAuthorsYear
1
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. (23726269)
2013
2
Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation. (23649205)
2013
3
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
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
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
7
Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. (20890030)
2010
8
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. (21510009)
2010
9
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? (18583390)
2008
10
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. (17256796)
2007
11
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
12
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. (16912704)
2006
13
Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between dyschondrosteosis, Turner syndrome, and hypochondroplasia. (16796318)
2006
14
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
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
Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. (15345118)
2004
19
Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period. (14755409)
2004
20
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. (12794698)
2003
21
Hypochondroplasia and stature within normal limits: another family with an Asn540-to-Ser mutation in the fibroblast growth factor receptor 3 gene. (12707965)
2003
22
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. (11754059)
2001
23
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. (11071087)
2000
24
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. (11015576)
2000
25
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. (10405653)
1999
26
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. (10360393)
1999
27
Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus. (10564875)
1999
28
Growth hormone therapy in hypochondroplasia. (10102069)
1999
29
Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity. (10361991)
1999
30
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. (9869286)
1998
31
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. (10215410)
1998
32
Comparison of clinical-radiological and molecular findings in hypochondroplasia. (9450868)
1998
33
Genotype and phenotype in hypochondroplasia. (9672519)
1998
34
Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. (9372781)
1997
35
Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene. (8702125)
1996
36
Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia]. (8949408)
1996
37
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. (8723101)
1996
38
Confirmatory linkage of hypochondroplasia to chromosome arm 4p. (7677163)
1995
39
Possible genetic heterogeneity in hypochondroplasia. (7666407)
1995
40
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. (7670477)
1995
41
A common FGFR3 gene mutation in hypochondroplasia. (8589686)
1995
42
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
43
Molecular genetics of hypochondroplasia. (1678996)
1991
44
The frequency of mental retardation in hypochondroplasia. (1956068)
1991
45
Achondroplasia-hypochondroplasia complex. (3591840)
1987
46
An autosomal recessive bone dysplasia syndrome resembling hypochondroplasia. (4039054)
1985
47
Hypochondroplasia: clinical and radiological aspects in 39 cases. (472320)
1979
48
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. (458831)
1979
49
Hypochondroplasia. (727810)
1978
50
Probable case of achondroplasia-hypochondroplasia compound. (4461068)
1974

Genetic Variations for Hypochondroplasia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hypochondroplasia:

63
id Symbol AA change Variation SNP ID
1FGFR3p.Ile538ValVAR_004157
2FGFR3p.Asn540LysVAR_004158rs28933068
3FGFR3p.Asn540ThrVAR_004159
4FGFR3p.Asn540SerVAR_018389
5FGFR3p.Lys650GlnVAR_018390

Expression for genes affiliated with Hypochondroplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 38NCBI BioSystems Database, 50PharmGKB, 53R&D Systems, 60Tocris Bioscience, 54Reactome, 30KEGG, 4Cell Signaling Technology, 12EMD Millipore
See all sources

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
9.7FGFR3, FGF2
39.6FGF2, FGFR1
49.6FGFR1, FGF2
59.6FGFR2, FGF2
6
Hide members
9.5ATF2, FGFR2
7
Hide members
9.5ATF2, FGFR2
89.4FGFR2, FGFR3, FGFR1
9
Hide members
9.4FGFR2, FGFR1, FGFR3
109.4FGFR3, FGFR2, FGFR1
11
Hide members
9.4FGFR1, FGFR2, FGFR3
12
Hide members
9.3FGF3, FGFR2, FGF2
13
Hide members
9.2ATF2, FGFR2, FGF3
14
Hide members
9.2FGFR1, ATF2, FGFR2
159.1FGF2, FGFR1, IGF1
16
Hide members
9.0FGFR1, FGF3, FGFR3, FGFR2
178.9FGFR2, FGF2, FGFR3, FGFR1
18
Hide members
8.9FGF2, FGFR3, FGFR1, FGFR2
198.9FGFR3, FGF2, FGFR2, FGFR1
208.9FGFR3, FGFR1, FGFR2, FGF2
218.9FGFR1, FGFR3, FGF2, FGFR2
228.8FGFR3, FGFR1, IGF1, FGF2
238.8FGF3, FGF2, FGFR1, IGF1
24
Hide members
8.6FGF2, FGFR3, FGFR1, FGF3, FGFR2
258.6FGF3, FGFR1, FGFR2, FGFR3, FGF2
26
Hide members
8.6FGF3, FGFR1, FGFR3, FGF2, FGFR2
27
Hide members
8.6FGF2, FGFR1, FGFR3, FGFR2, FGF3
28
Hide members
8.6FGFR3, FGFR2, FGF2, FGF3, FGFR1
29
Hide members
8.6FGF2, FGF3, FGFR2, FGFR3, FGFR1
30
Hide members
8.6FGFR1, FGF3, FGFR2, FGFR3, FGF2
31
Hide members
8.6FGFR3, FGFR1, FGF3, FGF2, FGFR2
32
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8.6FGFR1, FGF2, FGFR3, FGF3, FGFR2
33
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8.4IGF1, FGFR1, FGFR3, FGF2, FGFR2
34
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8.4FGFR3, FGF2, FGFR1, FGFR2, IGF1
35
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8.4FGFR3, FGFR1, IGF1, FGFR2, FGF2
36
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8.3FGFR2, FGFR1, FGFR3, IGF1, ATF2
37
Hide members
8.3FGFR2, IGF1, ATF2, FGFR1, FGFR3
38
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8.1FGF3, IGF1, FGFR3, FGFR1, FGF2, FGFR2
39
Hide members
8.1FGF2, FGFR3, FGFR1, FGF3, FGFR2, IGF1
408.1IGF1, FGFR2, FGF3, FGFR1, FGFR3, FGF2
41
Hide members
8.1FGFR2, FGF2, FGFR3, FGFR1, FGF3, IGF1
42
Development FGF-family signaling
Hide members
8.1FGFR3, ATF2, FGFR1, FGFR2, FGF3, FGF2
43
Hide members
8.1FGF2, FGF3, FGFR1, FGFR2, ATF2, FGFR3
44
Hide members
7.9FGF2, FGFR3, FGFR1, FGFR2, ATF2, IGF1
45
Hide members
7.9FGFR2, FGF2, ATF2, IGF1, FGFR3, FGFR1
46
Hide members
7.9ATF2, IGF1, FGFR1, FGFR2, FGF2, FGFR3
477.5FGF2, ATF2, IGF1, FGFR2, FGF3, FGFR3
48
Hide members
7.5FGFR3, ATF2, FGF2, FGFR1, FGF3, IGF1

Compounds for genes affiliated with Hypochondroplasia

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Hypochondroplasia according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1paclitaxel45 50 1112.4FGFR2
2heparin45 29 11 2413.4FGF3
3SU49841110.1FGFR1, FGFR2
4sucrose octasulfate45 1111.0FGF2, FGFR2
5su66684510.0FGF2, FGFR1
6chlorate459.9FGFR1, FGF2
7sodium chlorate459.9FGFR1, FGF2
8cmdb7459.9FGF2, IGF1
9rhodostomin459.9FGF2, IGF1
10pd 161570609.8FGFR2, FGFR1, FGFR3
11fiin 1 hydrochloride609.8FGFR2, FGFR1, FGFR3
12su 5402609.8FGFR2, FGFR1, FGFR3
13palifermin45 1110.8FGFR2, FGFR1, FGFR3
14Ponatinib 119.8FGFR3, FGFR1, FGFR2
15Regorafenib119.8FGFR2, FGFR1
165-methylthioadenosine459.8FGF2, FGFR2
17steroid459.8FGF3, FGFR2, SHOX
18estrogen459.8TK1, SHOX
19thalidomide45 50 60 1112.6FGFR2, FGFR3, FGF2
20chondroitin sulfate45 2410.6FGF2, FGFR1, FGFR2
21bromodeoxyuridine459.5FGF2, FGFR1, FGFR2
22heparan sulfate45 2410.5FGF2, FGFR1, FGFR2
23phenylalanine459.4FGFR3, FGFR1, FGFR2
24su5402459.4FGF2, FGFR3, FGFR1, FGFR2
25pd 17307445 6010.4FGFR2, FGFR1, FGFR3, FGF2
26agar459.3FGFR2, FGF3, FGFR1, FGF2
27phosphotyrosine459.3ATF2, FGFR2, FGFR1, FGFR3
2812-o-tetradecanoylphorbol 13-acetate459.2FGFR1, FGFR2, ATF2
29ganciclovir45 1110.1TK1, FGF2, FGFR2
30suramin45 29 1111.1FGF2, FGFR1, FGFR2, IGF1
31calcitriol45 60 11 2412.1FGF2, IGF1, ATF2
32ribonucleic acid459.1IGF1, FGFR2, FGFR1
33genistein45 29 60 2 11 2414.0IGF1, FGFR2, FGFR1, FGF2
34sb 20358045 6010.0ATF2, IGF1, FGFR1, FGF2
35h2o2458.9ATF2, FGFR2, FGFR1, FGF2
36oligonucleotide458.9ATF2, FGFR2, FGF3, FGFR1, FGFR3
37pd 98,059458.6ATF2, IGF1, FGFR2, FGFR1, FGF2
38vegf458.5IGF1, FGFR2, FGF3, FGFR1, FGFR3, FGF2
39retinoic acid45 249.5FGF2, FGFR1, FGFR2, IGF1, ATF2
40phosphatidylinositol458.4FGF2, FGFR1, FGFR2, IGF1
41thymidine45 249.3IGF1, FGFR2, FGFR1, FGF2, TK1
42glucose458.3ATF2, IGF1, FGFR2, FGFR1, TKTL1
43tyrosine457.9ATF2, IGF1, FGFR2, FGFR1, FGFR3, TK1
44calcium45 50 11 2410.5ATF2, FGFR2, FGFR1, FGFR3, TKTL1, TK1
45serine457.5ATF2, IGF1, FGFR2, FGFR1, FGFR3, FGF2

GO Terms for genes affiliated with Hypochondroplasia

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypochondroplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet