HCH
MCID: HYP042
MIFTS: 69

Hypochondroplasia (HCH) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Hypochondroplasia

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 lordosis, scoliosis and rachidian/spine canal stenosis. An important gene associated with Hypochondroplasia is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are FGF signaling pathway and Glypican 1 network. The compounds pazopanib and su6668 have been mentioned in the context of this disorder. Affiliated tissues include bone, temporal lobe and skin, and related mouse phenotypes are no phenotypic analysis and renal/urinary system.

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:65 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

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8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


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 65 19 43 20 22 21 47 10 45 49
hch 65 43 21
hypochondrodysplasia 65 21
hhh syndrome 62


External Ids:

Disease Ontology8 DOID:0080041
OMIM47 146000
ICD10 via Orphanet26 Q77.4
SNOMED-CT via Orphanet59 205468002
UMLS via Orphanet63 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 63)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia31.2FGFR3, FGF3, FGFR2
2thanatophoric dysplasia30.7FGFR3, FGFR2
3short stature30.4FGFR3, SHOX, IGF1
4acanthosis nigricans30.4IGF1, FGFR2, FGFR3
5skeletal dysplasias30.3SHOX, FGFR2, FGFR1, FGFR3
6breast cancer30.2TK1, FGFR2, FGF3, FGFR1, FGF2
7dwarfism30.1IGF1, SHOX, FGFR2, FGFR1, FGFR3
8turner syndrome30.1IGF1, SHOX
9muenke syndrome30.0FGFR2, FGFR1, FGFR3
10retinoblastoma30.0FGFR3, FGF3, FGFR2
11osteochondroma10.1FGFR3
12osteoglophonic dysplasia10.1FGFR1
13beare-stevenson cutis gyrata syndrome10.1FGFR2
14antley-bixler syndrome10.1FGFR2
15klinefelter's syndrome10.1FGFR1
16ladd syndrome10.1FGFR2, FGFR3
17infectious mononucleosis10.1FGFR2, FGFR1
18strabismus10.1FGFR3, FGFR2
19syndactyly10.1FGFR2, FGFR3
20fgfr-related craniosynostosis syndromes10.0FGFR2, FGFR1, FGFR3
21jackson-weiss syndrome10.0FGFR2, FGFR1, FGFR3
22acrocephalosyndactylia10.0FGFR3, FGFR1, FGFR2
23saethre-chotzen syndrome10.0FGFR3, FGFR1, FGFR2
24synostosis10.0FGFR3, FGFR1, FGFR2
25growth retardation-mild developmental delay-chronic hepatitis syndrome10.0IGF1, SHOX, FGFR3
26hepatitis c10.0
27neuronitis10.0
28hepatitis10.0
29motor neuron disease10.0
30hepatitis c virus10.0
31developmental disabilities10.0FGFR3, FGFR1, FGFR2
32hypogonadism10.0FGFR1, IGF1
33cleft palate10.0FGFR1, FGFR2
34spinal stenosis10.0
35down syndrome10.0
36leri weill dyschondrosteosis10.0
37mental retardation10.0
38proliferative diabetic retinopathy10.0IGF1, FGF2
39kaposi's sarcoma10.0FGF2, FGF3, FGFR2
40bladder carcinoma10.0FGFR3, FGF2, FGFR2
41teratocarcinoma10.0FGF2, FGFR2
42diabetic retinopathy10.0IGF1, FGF2
43astrocytoma10.0FGF2, FGFR1, FGFR2
44pituitary adenoma10.0IGF1, FGFR2, FGF2
45osteoarthritis10.0FGF2, FGFR1, IGF1
46myeloproliferative disorder9.9FGF2, FGFR1
47crouzon syndrome9.9FGFR2, FGFR1, FGF2, FGFR3
48brain cancer9.9FGF2, FGFR1, TK1
49craniosynostosis9.9FGFR2, FGFR1, FGF2, FGFR3
50chondrosarcoma9.9FGFR2, FGFR1, FGF2, FGFR3

Graphical network of the top 20 diseases related to Hypochondroplasia:



Diseases related to hypochondroplasia

Symptoms for Hypochondroplasia

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

146000

Clinical features from OMIM:

146000

Symptoms:

49 (show all 21)
  • lordosis
  • scoliosis
  • rachidian/spine canal stenosis
  • apnea/sleep apnea
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • bowed diaphysis/diaphyses/long bones
  • osteoarthritis
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hyperextensible joints/articular hyperlaxity
  • metaphyseal anomaly
  • 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
  • abnormal vertebral size/shape

Drugs & Therapeutics for Hypochondroplasia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hypochondroplasia

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Hypochondroplasia:

33
Bone, Temporal lobe, Skin, Bone marrow

Animal Models for Hypochondroplasia or affiliated genes

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37MGI
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Publications for Hypochondroplasia

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52PubMed
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Articles related to Hypochondroplasia:

(show top 50)    (show all 99)
idTitleAuthorsYear
1
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. (23726269)
2013
2
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. (23149434)
2012
3
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. (23165795)
2012
4
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
5
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. (20226364)
2010
6
Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. (20890030)
2010
7
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. (17895900)
2008
8
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. (17256796)
2007
9
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
10
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
11
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. (16354969)
2006
12
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. (16912704)
2006
13
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. (16418051)
2005
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
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. (12794698)
2003
18
Hypochondroplasia and stature within normal limits: another family with an Asn540-to-Ser mutation in the fibroblast growth factor receptor 3 gene. (12707965)
2003
19
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. (11754059)
2001
20
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. (11071087)
2000
21
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. (10482885)
1999
22
Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia. (9932857)
1999
23
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. (10405653)
1999
24
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. (9869286)
1998
25
Genotype phenotype correlation in achondroplasia and hypochondroplasia. (9853502)
1998
26
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. (9452043)
1998
27
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. (10215410)
1998
28
Comparison of clinical-radiological and molecular findings in hypochondroplasia. (9450868)
1998
29
FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients. (9554479)
1998
30
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. (9055906)
1996
31
Clinical and genetic heterogeneity of hypochondroplasia. (8880574)
1996
32
Confirmatory linkage of hypochondroplasia to chromosome arm 4p. (7677163)
1995
33
Possible genetic heterogeneity in hypochondroplasia. (7666407)
1995
34
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. (7702086)
1995
35
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. (7670477)
1995
36
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. (8012398)
1994
37
Hypochondroplasia (20301650)
1993
38
Basilar impression in a child with hypochondroplasia. (2029297)
1991
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
Growth and growth hormone therapy in hypochondroplasia. (2239275)
1990
42
Hypochondroplasia: radiological diagnosis and differential diagnosis. (3240246)
1988
43
Achondroplasia-hypochondroplasia complex. (3591840)
1987
44
Prenatal diagnosis of hypochondroplasia. (3911194)
1985
45
The radiographic manifestations of hypochondroplasia. (421428)
1979
46
Hypochondroplasia. (1098822)
1975
47
Probable case of achondroplasia-hypochondroplasia compound. (4461068)
1974
48
The genetic entity of hypochondroplasia. (4838890)
1974
49
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. (4697848)
1973
50
Hypochondroplasia. A report of five kindreds. (5783850)
1969

Variations for Hypochondroplasia

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:

64
id Symbol AA change Variation ID SNP ID
1FGFR3p.Ile538ValVAR_004157
2FGFR3p.Asn540LysVAR_004158rs28933068
3FGFR3p.Asn540ThrVAR_004159
4FGFR3p.Asn540SerVAR_018389
5FGFR3p.Lys650GlnVAR_018390

Clinvar genetic disease variations for Hypochondroplasia:

1 (show all 24)
id Gene Name Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
2FGFR3NM_000142.4(FGFR3): c.1620C> G (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
3FGFR3NM_000142.4(FGFR3): c.1619A> C (p.Asn540Thr)single nucleotide variantPathogenicrs77722678GRCh37Chr 4, 1807370: 1807370
4FGFR3NM_000142.4(FGFR3): c.1612A> G (p.Ile538Val)single nucleotide variantPathogenicrs80053154GRCh37Chr 4, 1807363: 1807363
5FGFR3NM_000142.4(FGFR3): c.1950G> T (p.Lys650Asn)single nucleotide variantPathogenicrs28928868GRCh37Chr 4, 1807891: 1807891
6FGFR3NM_000142.4(FGFR3): c.1950G> C (p.Lys650Asn)single nucleotide variantPathogenicrs28928868GRCh37Chr 4, 1807891: 1807891
7FGFR3NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln)single nucleotide variantPathogenicrs78311289GRCh37Chr 4, 1807889: 1807889
8FGFR3NM_000142.4(FGFR3): c.1619A> G (p.Asn540Ser)single nucleotide variantPathogenicrs77722678GRCh37Chr 4, 1807370: 1807370
9FGFR3FGFR3, LYS652GLNundetermined variantPathogenic
10FGFR3NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys)single nucleotide variantPathogenicrs121913114GRCh37Chr 4, 1803657: 1803657
11FGFR3NM_000142.4(FGFR3): c.833A> G (p.Tyr278Cys)single nucleotide variantPathogenicrs121913115GRCh37Chr 4, 1803655: 1803655
12FGFR3NM_000142.4(FGFR3): c.251C> T (p.Ser84Leu)single nucleotide variantPathogenicrs121913116GRCh37Chr 4, 1801122: 1801122
13FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
14FGFR3NM_000142.4(FGFR3): c.344A> T (p.Gln115Leu)single nucleotide variantPathogenicGRCh37Chr 4, 1801215: 1801215
15FGFR3NP_000133.1: p.Gly65Argundetermined variantPathogenic
16FGFR3NM_000142.4(FGFR3): c.791C> T (p.Thr264Met)single nucleotide variantPathogenicGRCh37Chr 4, 1803613: 1803613
17FGFR3NM_000142.4(FGFR3): c.1024G> T (p.Gly342Cys)single nucleotide variantPathogenicGRCh37Chr 4, 1805512: 1805512
18FGFR3NM_000142.4(FGFR3): c.1142T> A (p.Val381Glu)single nucleotide variantPathogenicGRCh37Chr 4, 1806123: 1806123
19FGFR3NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr)single nucleotide variantPathogenicGRCh37Chr 4, 1807890: 1807890
20FGFR3NM_000142.4(FGFR3): c.597C> T (p.His199=)single nucleotide variantPathogenicGRCh37Chr 4, 1803245: 1803245
21FGFR3NM_000142.4: c.783A> Csingle nucleotide variantPathogenic
22FGFR3NM_000142.4(FGFR3): c.801G> T (p.Leu267=)single nucleotide variantPathogenicGRCh37Chr 4, 1803623: 1803623
23FGFR3NM_000142.4(FGFR3): c.970C> G (p.Leu324Val)single nucleotide variantPathogenicGRCh37Chr 4, 1805458: 1805458
24FGFR3NM_000142.4(FGFR3): c.983A> T (p.Asn328Ile)single nucleotide variantPathogenicGRCh37Chr 4, 1805471: 1805471

Expression for genes affiliated with Hypochondroplasia

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2BioGPS, 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:
50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 5Cell Signaling Technology, 51PharmGKB, 61Tocris Bioscience, 53QIAGEN, 54R&D Systems, 55Reactome, 57SinoBiological, 30KEGG
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Pathways related to Hypochondroplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6FGFR1, FGFR2
29.5FGF2, FGFR1
39.5FGFR1, FGF2
49.5FGFR1, FGF2
5
Show member pathways
Angiogenesis38
9.5FGFR2, FGF2
6
Show member pathways
9.3FGFR2, FGFR1, FGFR3
79.3FGFR3, FGFR2, FGFR1
89.3FGFR3, FGFR1, FGFR2
9
Show member pathways
9.3FGFR3, FGFR1, FGFR2
10
Show member pathways
9.2FGFR1, FGF2, FGFR3
118.9FGF2, FGFR1, IGF1
128.9FGFR2, FGF2, IGF1
13
Show member pathways
8.8FGFR1, FGFR3, FGF2, FGFR2
148.8FGFR1, FGF2, FGFR3, FGFR2
158.8FGFR3, FGF2, FGFR1, FGFR2
168.8FGFR3, FGFR2, FGFR1, FGF2
17
Show member pathways
8.7FGFR2, FGFR3, FGFR1, IGF1
18
Show member pathways
8.7FGFR1, FGFR3, IGF1, FGFR2
198.6FGFR1, FGF2, FGFR3, IGF1
208.5FGFR1, FGF2, IGF1, FGF3
21
Show member pathways
8.4FGFR1, FGFR3, FGFR2, FGF3, FGF2
22
Show member pathways
8.4FGF2, FGF3, FGFR3, FGFR1, FGFR2
23
Show member pathways
8.4FGF2, FGFR1, FGF3, FGFR2, FGFR3
24
Show member pathways
8.4FGFR2, FGF3, FGFR1, FGF2, FGFR3
25
Show member pathways
8.4FGFR2, FGF2, FGFR1, FGF3, FGFR3
26
Show member pathways
MAPK signaling pathway38
8.4FGF3, FGFR2, FGF2, FGFR1, FGFR3
27
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGF2, FGFR3
288.4FGFR3, FGF3, FGF2, FGFR2, FGFR1
29
Show member pathways
8.4FGF3, FGFR1, FGF2, FGFR3, FGFR2
30
Show member pathways
8.4FGFR3, FGFR2, FGF3, FGFR1, FGF2
31
Show member pathways
8.4FGF3, FGF2, FGFR1, FGFR3, FGFR2
32
Show member pathways
8.1FGF2, FGFR2, FGFR1, IGF1, FGFR3
33
Show member pathways
8.1FGFR1, FGF2, FGFR2, FGFR3, IGF1
34
Show member pathways
8.1FGF2, FGFR1, IGF1, FGFR3, FGFR2
35
Show member pathways
8.1IGF1, FGFR2, FGFR1, FGF2, FGFR3
36
Show member pathways
8.1IGF1, FGFR2, FGFR3, FGF2, FGFR1
37
Show member pathways
8.1FGFR2, IGF1, FGFR3, FGF2, FGFR1
38
Show member pathways
8.1FGF2, IGF1, FGFR3, FGFR1, FGFR2
39
Show member pathways
8.1FGFR3, IGF1, FGFR2, FGFR1, FGF2
40
Show member pathways
8.1FGFR3, FGF2, IGF1, FGFR2, FGFR1
41
Show member pathways
8.1IGF1, FGFR3, FGF2, FGFR1, FGFR2
427.8FGF2, FGF3, FGFR2, IGF1, FGFR1, FGFR3
43
Show member pathways
7.8FGFR2, FGFR1, FGF3, FGF2, FGFR3, IGF1
44
Show member pathways
7.8IGF1, FGF3, FGFR3, FGF2, FGFR1, FGFR2
45
Show member pathways
7.8FGFR1, FGF3, FGFR2, IGF1, FGF2, FGFR3
46
Show member pathways
Signaling Pathways in Glioblastoma38
7.8FGF3, FGFR1, FGF2, FGFR2, IGF1, FGFR3
47
Show member pathways
7.8FGF2, FGFR3, FGF3, FGFR1, FGFR2, IGF1
48
Show member pathways
7.8FGFR2, FGFR3, FGF2, FGFR1, FGF3, IGF1
49
Show member pathways
7.8FGF3, IGF1, FGFR2, FGFR1, FGF2, FGFR3
507.8FGF3, FGFR3, IGF1, FGFR2, FGFR1, FGF2

Compounds for genes affiliated with Hypochondroplasia

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51PharmGKB, 11DrugBank, 45Novoseek, 61Tocris Bioscience, 24HMDB, 29IUPHAR, 3BitterDB
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Compounds related to Hypochondroplasia according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1pazopanib51 1111.1FGFR3, FGFR1
2su6668459.9FGF2, FGFR1
3sucrose octasulfate45 1110.9FGFR2, FGF2
4chlorate459.9FGFR1, FGF2
5sodium chlorate459.9FGFR1, FGF2
6regorafenib51 1110.9FGFR2, FGFR1
75-methylthioadenosine459.8FGFR2, FGF2
8pd 161570619.7FGFR2, FGFR1, FGFR3
9fiin 1 hydrochloride619.7FGFR2, FGFR1, FGFR3
10su 5402619.7FGFR2, FGFR1, FGFR3
11rhodostomin459.7IGF1, FGF2
12palifermin45 1110.7FGFR2, FGFR1, FGFR3
13cmdb7459.7IGF1, FGF2
14ponatinib51 1110.7FGFR3, FGFR1, FGFR2
15phenylalanine459.6FGFR3, FGFR1, FGFR2
16thalidomide45 51 61 1112.5FGFR2, FGF2, FGFR3
17phosphotyrosine459.5FGFR2, FGFR1, FGFR3
18chondroitin sulfate45 2410.5FGFR2, FGFR1, FGF2
19alginate459.4FGF2, IGF1
20bromodeoxyuridine459.4FGF2, FGFR1, FGFR2
21heparan sulfate45 2410.4FGFR2, FGFR1, FGF2
22ganciclovir45 1110.4TK1, FGFR2, FGF2
23polysaccharide459.3FGF2, FGFR1, FGFR2
24paclitaxel45 51 1111.3FGFR2, FGFR1, FGF2
25lysine459.3FGFR3, FGFR1, FGFR2
26ribonucleic acid459.3IGF1, FGFR2, FGFR1
27oligonucleotide459.2FGFR2, FGF3, FGFR1, FGFR3
28su5402459.2FGFR3, FGF2, FGFR1, FGFR2
29pd 17307445 6110.2FGFR2, FGFR1, FGF2, FGFR3
30sb 20358045 6110.2IGF1, FGFR1, FGF2
31agar459.1FGF2, FGFR1, FGF3, FGFR2
32paraffin459.1FGFR3, FGF2, FGFR2
33heparin45 29 24 1112.1FGFR2, FGF3, FGFR1, FGF2
34clonidine45 51 29 1112.0IGF1, FGF2
35ly294002459.0FGF2, FGFR1, IGF1
36suramin45 29 1110.9IGF1, FGFR2, FGFR1, FGF2
37pd 98,059458.9IGF1, FGFR2, FGFR1, FGF2
38genistein45 29 61 3 24 1113.8IGF1, FGFR2, FGFR1, FGF2
39phosphatidylinositol458.8FGF2, FGFR1, FGFR2, IGF1
40steroid458.7IGF1, SHOX, FGFR2, FGF3, FGFR1
41retinoic acid45 249.6FGF2, FGFR1, FGFR2, IGF1
42thymidine45 249.4IGF1, TK1, FGFR2, FGFR1, FGF2
43glucose458.3IGF1, TKTL1, FGFR2, FGFR1
44vegf458.2IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3
45serine458.0IGF1, TK1, FGFR2, FGFR1, FGF2, FGFR3
46estrogen458.0IGF1, SHOX, TK1, FGFR2, FGFR1, FGF2
47tyrosine458.0IGF1, TK1, FGFR2, FGFR1, FGF2, FGFR3
48calcium45 51 24 1110.9TKTL1, TK1, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Hypochondroplasia

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.3FGFR3, FGFR1, FGFR2
2extracellular regionGO:0055767.5FGFR3, FGF2, FGFR1, FGF3, FGFR2, IGF1

Biological processes related to Hypochondroplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.1FGFR1, FGFR3
2lens fiber cell developmentGO:07030710.1FGFR2, FGFR3
3negative regulation of mitosisGO:04583910.1FGFR3, FGFR2
4fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.0FGFR1, FGFR2
5bone morphogenesisGO:06034910.0FGFR3, FGFR2
6ventricular zone neuroblast divisionGO:02184710.0FGFR1, FGFR2
7otic vesicle formationGO:03091610.0FGFR2, FGF3
8mesenchymal cell differentiationGO:04876210.0FGFR2, FGFR1
9lung-associated mesenchyme developmentGO:06048410.0FGFR1, FGFR2
10branching involved in salivary gland morphogenesisGO:06044510.0FGFR1, FGFR2
11response to axon injuryGO:04867810.0FGF2, FGFR3
12positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.9FGFR3, FGF2
13positive regulation of phospholipase C activityGO:0108639.9FGFR1, FGF2
14chondrocyte differentiationGO:0020629.9FGFR3, FGFR1
15skeletal system morphogenesisGO:0487059.9FGFR2, FGFR1
16positive regulation of cell cycleGO:0457879.9FGFR2, FGFR1
17midbrain developmentGO:0309019.8FGFR1, FGFR2
18positive regulation of mesenchymal cell proliferationGO:0020539.8FGFR2, FGFR1
19digestive tract developmentGO:0485659.8TK1, FGFR2
20lung lobe morphogenesisGO:0604639.8IGF1, FGFR2
21prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:0605279.8IGF1, FGFR2
22ureteric bud developmentGO:0016579.8FGFR1, FGFR2
23positive regulation of cerebellar granule cell precursor proliferationGO:0219409.7FGF2, IGF1
24positive regulation of phospholipase activityGO:0105189.7FGFR3, FGFR1, FGFR2
25negative regulation of epithelial cell proliferationGO:0506809.7FGFR3, FGFR2
26substantia nigra developmentGO:0217629.7FGF2, FGFR3
27positive regulation of canonical Wnt signaling pathwayGO:0902639.7FGFR3, FGFR2
28peptidyl-tyrosine phosphorylationGO:0181089.7FGFR3, FGFR1, FGFR2
29glial cell differentiationGO:0100019.7IGF1, FGF2
30regulation of multicellular organism growthGO:0400149.7IGF1, FGFR2
31lung alveolus developmentGO:0482869.6FGFR2, IGF1
32protein autophosphorylationGO:0467779.6FGFR3, FGFR1, FGFR2
33cell-cell signalingGO:0072679.6FGFR3, FGF3, FGFR2
34organ inductionGO:0017599.6FGF3, FGFR1, FGF2
35positive regulation of ERK1 and ERK2 cascadeGO:0703749.6FGFR3, FGF2, FGFR2
36positive regulation of cell divisionGO:0517819.5FGFR2, FGF3, FGF2
37positive regulation of cardiac muscle cell proliferationGO:0600459.5FGF2, FGFR1, FGFR2
38positive regulation of smooth muscle cell proliferationGO:0486619.5FGFR2, IGF1
39positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.3FGFR1, IGF1
40skeletal system developmentGO:0015019.2IGF1, SHOX, FGFR1, FGFR3
41positive regulation of MAPK cascadeGO:0434109.1IGF1, FGFR2, FGFR1, FGFR3
42positive regulation of osteoblast differentiationGO:0456699.0FGF2, IGF1
43insulin receptor signaling pathwayGO:0082868.8FGFR2, FGF3, FGFR1, FGF2, FGFR3
44fibroblast growth factor receptor signaling pathwayGO:0085438.8FGFR2, FGF3, FGFR1, FGF2, FGFR3
45Fc-epsilon receptor signaling pathwayGO:0380958.8FGFR3, FGF2, FGFR1, FGF3, FGFR2
46epidermal growth factor receptor signaling pathwayGO:0071738.8FGFR2, FGF3, FGFR1, FGF2, FGFR3
47neurotrophin TRK receptor signaling pathwayGO:0480118.8FGFR3, FGF2, FGFR1, FGF3, FGFR2
48innate immune responseGO:0450878.8FGFR2, FGF3, FGFR1, FGF2, FGFR3
49phosphatidylinositol-mediated signalingGO:0480158.2FGFR3, FGF2, FGFR1, FGF3, FGFR2, IGF1
50positive regulation of cell proliferationGO:0082848.2IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3

Molecular functions related to Hypochondroplasia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:0050079.4FGFR2, FGFR1, FGFR3
2protein tyrosine kinase activityGO:0047139.4FGFR3, FGFR1, FGFR2
3fibroblast growth factor receptor bindingGO:0051049.3FGF2, FGF3
4heparin bindingGO:0082019.1FGFR2, FGFR1, FGF2
5fibroblast growth factor bindingGO:0171348.9FGFR3, FGF2, FGFR1, FGFR2
6growth factor activityGO:0080838.9FGF2, FGF3, IGF1
7protein bindingGO:0055157.4SHOX, FGFR2, FGF3, FGFR1, FGF2, FGFR3

Products for genes affiliated with Hypochondroplasia

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Sources for Hypochondroplasia

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet