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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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 based summary: 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 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:46 146000

GeneReviews summary for hypochondroplasia

Aliases & Classifications for Hypochondroplasia

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hypochondroplasia, Aliases & Descriptions:

Name: Hypochondroplasia 8 9 65 19 42 20 22 21 46 10 44 48
Hch 65 42 21
 
Hypochondrodysplasia 65 21


Classifications:

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


External Ids:

Disease Ontology8 DOID:0080041
OMIM46 146000
ICD10 via Orphanet26 Q77.4
UMLS via Orphanet63 C0410529

Related Diseases for Hypochondroplasia

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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
1achondroplasia31.4FGFR3, FGF3, FGFR2
2thanatophoric dysplasia31.1FGFR3, FGFR2
3short stature30.5FGFR3, SHOX, IGF1
4acanthosis nigricans30.5IGF1, FGFR2, FGFR3
5turner syndrome30.3IGF1, SHOX
6muenke syndrome30.2FGFR2, FGFR1, FGFR3
7retinoblastoma30.1FGFR3, FGF3, FGFR2
8dwarfism29.9IGF1, SHOX, FGFR2, FGFR1, FGFR3
9breast cancer29.6TK1, FGFR2, FGF3, FGFR1, FGF2
10osteochondroma10.5FGFR3
11osteoglophonic dysplasia10.5FGFR1
12beare-stevenson cutis gyrata syndrome10.4FGFR2
13antley-bixler syndrome10.4FGFR2
14klinefelter's syndrome10.4FGFR1
15ladd syndrome10.3FGFR2, FGFR3
16infectious mononucleosis10.3FGFR2, FGFR1
17strabismus10.3FGFR3, FGFR2
18skeletal dysplasias10.2
19syndactyly10.2FGFR2, FGFR3
20fgfr-related craniosynostosis syndromes10.1FGFR2, FGFR1, FGFR3
21jackson-weiss syndrome10.1FGFR2, FGFR1, FGFR3
22acrocephalosyndactylia10.1FGFR3, FGFR1, FGFR2
23saethre-chotzen syndrome10.1FGFR3, FGFR1, FGFR2
24synostosis10.1FGFR3, FGFR1, FGFR2
25developmental disabilities10.1FGFR3, FGFR1, FGFR2
26hypogonadism10.1FGFR1, IGF1
27cleft palate10.0FGFR1, FGFR2
28hepatitis10.0
29motor neuron disease10.0
30hepatitis c10.0
31neuronitis10.0
32hepatitis c virus10.0
33spinal stenosis10.0
34down syndrome10.0
35focal epilepsy10.0
36leri weill dyschondrosteosis10.0
37mental retardation10.0
38skeletal dysplasia multi-gene panels10.0SHOX, FGFR2, FGFR1, FGFR3
39proliferative diabetic retinopathy10.0IGF1, FGF2
40kaposi's sarcoma9.9FGF2, FGF3, FGFR2
41bladder carcinoma9.9FGFR3, FGF2, FGFR2
42teratocarcinoma9.9FGF2, FGFR2
43diabetic retinopathy9.9IGF1, FGF2
44astrocytoma9.8FGF2, FGFR1, FGFR2
45pituitary adenoma9.8IGF1, FGFR2, FGF2
46osteoarthritis9.8FGF2, FGFR1, IGF1
47bone marrow cancer9.8FGF2, FGFR1
48crouzon syndrome9.8FGFR2, FGFR1, FGF2, FGFR3
49brain cancer9.8FGF2, FGFR1, TK1
50craniosynostosis9.8FGFR2, FGFR1, FGF2, FGFR3

Graphical network of the top 20 diseases related to Hypochondroplasia:



Diseases related to hypochondroplasia

Symptoms for Hypochondroplasia

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Symptoms by clinical synopsis from OMIM:

146000

Clinical features from OMIM:

146000

Symptoms:

48 (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

HPO human phenotypes related to Hypochondroplasia:

(show all 33)
id Description Frequency HPO Source Accession
1 brachydactyly syndrome hallmark (90%) HP:0001156
2 short toe hallmark (90%) HP:0001831
3 skeletal dysplasia hallmark (90%) HP:0002652
4 micromelia hallmark (90%) HP:0002983
5 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
6 short stature hallmark (90%) HP:0004322
7 abnormality of the metaphyses typical (50%) HP:0000944
8 joint hypermobility typical (50%) HP:0001382
9 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
10 abnormality of the femur typical (50%) HP:0002823
11 genu varum typical (50%) HP:0002970
12 abnormality of the elbow typical (50%) HP:0009811
13 intellectual disability occasional (7.5%) HP:0001249
14 macrocephaly occasional (7.5%) HP:0000256
15 apnea occasional (7.5%) HP:0002104
16 scoliosis occasional (7.5%) HP:0002650
17 osteoarthritis occasional (7.5%) HP:0002758
18 hyperlordosis occasional (7.5%) HP:0003307
19 spinal canal stenosis occasional (7.5%) HP:0003416
20 cognitive impairment occasional (7.5%) HP:0100543
21 autosomal dominant inheritance HP:0000006
22 macrocephaly HP:0000256
23 malar flattening HP:0000272
24 brachydactyly syndrome HP:0001156
25 limited elbow extension HP:0001377
26 frontal bossing HP:0002007
27 abnormality of pelvic girdle bone morphology HP:0002644
28 lumbar hyperlordosis HP:0002938
29 genu varum HP:0002970
30 flared metaphyses HP:0003015
31 short long bones HP:0003026
32 aplasia/hypoplasia of the extremities HP:0009815
33 childhood onset short-limb short stature HP:0011405

Drugs & Therapeutics for Hypochondroplasia

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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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Genetic tests related to Hypochondroplasia:

id Genetic test Affiliating Genes
1 Hypochondroplasia20 22 FGFR3

Anatomical Context for Hypochondroplasia

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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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Publications for Hypochondroplasia

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Articles related to Hypochondroplasia:

(show top 50)    (show all 105)
idTitleAuthorsYear
1
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. (25387261)
2014
2
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. (24839128)
2014
3
Homozygous N540K hypochondroplasia--first report: radiological and clinical features. (24715719)
2014
4
Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome? (24630288)
2014
5
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. (23726269)
2013
6
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. (23045425)
2012
7
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. (23149434)
2012
8
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
9
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. (20226364)
2010
10
Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. (20890030)
2010
11
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. (17895900)
2008
12
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. (17256796)
2007
13
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
14
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
15
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. (16354969)
2006
16
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. (16912704)
2006
17
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. (16418051)
2005
18
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
19
Medial temporal lobe dysgenesis in hypochondroplasia. (16222682)
2005
20
Disproportionate stature but normal height in hypochondroplasia. (15909185)
2005
21
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. (12794698)
2003
22
Hypochondroplasia and stature within normal limits: another family with an Asn540-to-Ser mutation in the fibroblast growth factor receptor 3 gene. (12707965)
2003
23
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. (11754059)
2001
24
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. (11071087)
2000
25
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. (10482885)
1999
26
Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia. (9932857)
1999
27
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. (10405653)
1999
28
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. (9869286)
1998
29
Genotype phenotype correlation in achondroplasia and hypochondroplasia. (9853502)
1998
30
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. (9452043)
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
FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients. (9554479)
1998
34
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. (9055906)
1996
35
Confirmatory linkage of hypochondroplasia to chromosome arm 4p. (7677163)
1995
36
Possible genetic heterogeneity in hypochondroplasia. (7666407)
1995
37
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. (7702086)
1995
38
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. (8012398)
1994
39
Hypochondroplasia (20301650)
1993
40
Basilar impression in a child with hypochondroplasia. (2029297)
1991
41
Growth of children with hypochondroplasia treated with growth hormone for up to three years. (1806487)
1991
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
Growth and growth hormone therapy in hypochondroplasia. (2239275)
1990
44
Achondroplasia-hypochondroplasia complex. (3591840)
1987
45
Prenatal diagnosis of hypochondroplasia. (3911194)
1985
46
The radiographic manifestations of hypochondroplasia. (421428)
1979
47
Hypochondroplasia. (1098822)
1975
48
Probable case of achondroplasia-hypochondroplasia compound. (4461068)
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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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:

6 (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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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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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
Angiogenesis37
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 pathway37
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 Glioblastoma37
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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Compounds related to Hypochondroplasia according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1pazopanib50 1111.1FGFR3, FGFR1
2su6668449.9FGF2, FGFR1
3sucrose octasulfate44 1110.9FGFR2, FGF2
4chlorate449.9FGFR1, FGF2
5sodium chlorate449.9FGFR1, FGF2
6regorafenib50 1110.9FGFR2, FGFR1
75-methylthioadenosine449.8FGFR2, FGF2
8pd 161570619.7FGFR2, FGFR1, FGFR3
9fiin 1 hydrochloride619.7FGFR2, FGFR1, FGFR3
10su 5402619.7FGFR2, FGFR1, FGFR3
11rhodostomin449.7IGF1, FGF2
12palifermin44 1110.7FGFR2, FGFR1, FGFR3
13cmdb7449.7IGF1, FGF2
14ponatinib50 1110.7FGFR3, FGFR1, FGFR2
15phenylalanine449.6FGFR3, FGFR1, FGFR2
16thalidomide44 50 61 1112.5FGFR2, FGF2, FGFR3
17phosphotyrosine449.5FGFR2, FGFR1, FGFR3
18chondroitin sulfate44 2410.5FGFR2, FGFR1, FGF2
19alginate449.4FGF2, IGF1
20bromodeoxyuridine449.4FGF2, FGFR1, FGFR2
21heparan sulfate44 2410.4FGFR2, FGFR1, FGF2
22ganciclovir44 1110.4TK1, FGFR2, FGF2
23polysaccharide449.3FGF2, FGFR1, FGFR2
24paclitaxel44 50 1111.3FGFR2, FGFR1, FGF2
25lysine449.3FGFR3, FGFR1, FGFR2
26ribonucleic acid449.3IGF1, FGFR2, FGFR1
27oligonucleotide449.2FGFR2, FGF3, FGFR1, FGFR3
28su5402449.2FGFR3, FGF2, FGFR1, FGFR2
29pd 17307444 6110.2FGFR2, FGFR1, FGF2, FGFR3
30sb 20358044 6110.2IGF1, FGFR1, FGF2
31agar449.1FGF2, FGFR1, FGF3, FGFR2
32paraffin449.1FGFR3, FGF2, FGFR2
33heparin44 28 24 1112.1FGFR2, FGF3, FGFR1, FGF2
34clonidine44 50 28 1112.0IGF1, FGF2
35ly294002449.0FGF2, FGFR1, IGF1
36suramin44 28 1110.9IGF1, FGFR2, FGFR1, FGF2
37pd 98,059448.9IGF1, FGFR2, FGFR1, FGF2
38genistein44 28 61 2 24 1113.8IGF1, FGFR2, FGFR1, FGF2
39phosphatidylinositol448.8FGF2, FGFR1, FGFR2, IGF1
40steroid448.7IGF1, SHOX, FGFR2, FGF3, FGFR1
41retinoic acid44 249.6FGF2, FGFR1, FGFR2, IGF1
42thymidine44 249.4IGF1, TK1, FGFR2, FGFR1, FGF2
43glucose448.3IGF1, TKTL1, FGFR2, FGFR1
44vegf448.2IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3
45serine448.0IGF1, TK1, FGFR2, FGFR1, FGF2, FGFR3
46estrogen448.0IGF1, SHOX, TK1, FGFR2, FGFR1, FGF2
47tyrosine448.0IGF1, TK1, FGFR2, FGFR1, FGF2, FGFR3
48calcium44 50 24 1110.9TKTL1, TK1, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Hypochondroplasia

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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

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet