MCID: HYP042
MIFTS: 70

Hypochondroplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Hypochondroplasia

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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 based summary: Hypochondroplasia, also known as hch, is related to achondroplasia and acanthosis nigricans, and has symptoms including brachydactyly syndrome, short toe and skeletal dysplasia. An important gene associated with Hypochondroplasia is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are FGF signaling pathway and Syndecan-4-mediated signaling events. 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:10 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:23 Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.

OMIM:47 Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and... (146000) more...

Wikipedia:65 Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the... more...

GeneReviews summary for hypochondroplasia

Aliases & Classifications for Hypochondroplasia

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 65Wikipedia, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hypochondroplasia, Aliases & Descriptions:

Name: Hypochondroplasia 47 10 11 65 21 43 22 23 12 45 49 24
Hch 65 43 23
 
Hypochondrodysplasia 65 23


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 (Europe); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM47 146000
Disease Ontology10 DOID:0080041
Orphanet49 429
ICD10 via Orphanet28 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 64)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia31.2FGF3, FGFR2, FGFR3
2acanthosis nigricans30.5FGFR3, FGFR2, IGF1
3breast cancer30.3FGFR2, FGF2, TK1, FGFR1, FGF3
4dwarfism30.2FGFR3, FGFR1, SHOX, IGF1, FGFR2
5thanatophoric dysplasia, type i30.1FGFR3, FGFR2
6turner syndrome30.0SHOX, IGF1
7muenke syndrome30.0FGFR2, FGFR1, FGFR3
8retinoblastoma30.0FGFR2, FGFR3, FGF3
9skeletal dysplasias10.2
10osteochondroma10.1FGFR3
11osteoglophonic dysplasia10.1FGFR1
12beare-stevenson cutis gyrata syndrome10.0FGFR2
13antley-bixler syndrome10.0FGFR2
14hepatitis c virus10.0
15hepatitis10.0
16motor neuron disease10.0
17hepatitis c10.0
18neuronitis10.0
19klinefelter's syndrome10.0FGFR1
20ladd syndrome10.0FGFR3, FGFR2
21pfeiffer syndrome10.0FGFR1, FGFR2
22strabismus10.0FGFR3, FGFR2
23syndactyly10.0FGFR3, FGFR2
24fgfr-related craniosynostosis syndromes10.0FGFR3, FGFR2, FGFR1
25jackson-weiss syndrome10.0FGFR3, FGFR1, FGFR2
26acrocephalosyndactylia10.0FGFR1, FGFR2, FGFR3
27saethre-chotzen syndrome10.0FGFR2, FGFR3, FGFR1
28synostosis10.0FGFR2, FGFR3, FGFR1
29developmental disabilities10.0FGFR1, FGFR3, FGFR2
30insulin-like growth factor i10.0
31leri-weill dyschondrosteosis10.0
32spinal stenosis10.0
33down syndrome10.0
34focal epilepsy10.0
35mental retardation10.0
36hypogonadism10.0IGF1, FGFR1
37cleft palate, isolated10.0FGFR2, FGFR1
38skeletal dysplasia multi-gene panels10.0FGFR2, FGFR3, SHOX, FGFR1
39microvascular complications of diabetes 110.0FGF2, IGF1
40bladder cancer, somatic10.0FGFR2, FGFR3, FGF2
41kaposi sarcoma10.0FGF3, FGF2, FGFR2
42teratocarcinoma10.0FGFR2, FGF2
43microvascular complications of diabetes 510.0IGF1, FGF2
44astrocytoma10.0FGF2, FGFR2, FGFR1
45pituitary adenoma10.0FGFR2, IGF1, FGF2
46osteoarthritis10.0IGF1, FGFR1, FGF2
47bone marrow cancer10.0FGF2, FGFR1
48apert syndrome10.0FGF2, FGFR1, FGFR3, FGFR2
49crouzon syndrome10.0FGF2, FGFR2, FGFR3, FGFR1
50brain cancer10.0TK1, FGFR1, FGF2

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:

 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

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 Hypochondroplasia22 24 FGFR3

Anatomical Context for Hypochondroplasia

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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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Publications for Hypochondroplasia

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Articles related to Hypochondroplasia:

(show top 50)    (show all 109)
idTitleAuthorsYear
1
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. (25809207)
2015
2
Growth hormone treatment in patients with hypochondroplasia. (25531227)
2014
3
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. (25387261)
2014
4
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. (24839128)
2014
5
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? (25505998)
2014
6
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. (23726269)
2013
7
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. (23045425)
2012
8
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. (23149434)
2012
9
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. (23165795)
2012
10
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
11
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. (20226364)
2010
12
Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. (20890030)
2010
13
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. (17256796)
2007
14
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
15
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
16
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. (16354969)
2006
17
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. (16912704)
2006
18
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. (16418051)
2005
19
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
20
Medial temporal lobe dysgenesis in hypochondroplasia. (16222682)
2005
21
Disproportionate stature but normal height in hypochondroplasia. (15909185)
2005
22
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. (12794698)
2003
23
Hypochondroplasia and stature within normal limits: another family with an Asn540-to-Ser mutation in the fibroblast growth factor receptor 3 gene. (12707965)
2003
24
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. (11754059)
2001
25
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. (11071087)
2000
26
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. (10482885)
1999
27
Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia. (9932857)
1999
28
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. (10405653)
1999
29
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. (9869286)
1998
30
Genotype phenotype correlation in achondroplasia and hypochondroplasia. (9853502)
1998
31
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. (9452043)
1998
32
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. (10215410)
1998
33
Comparison of clinical-radiological and molecular findings in hypochondroplasia. (9450868)
1998
34
FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients. (9554479)
1998
35
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. (9055906)
1996
36
Confirmatory linkage of hypochondroplasia to chromosome arm 4p. (7677163)
1995
37
Possible genetic heterogeneity in hypochondroplasia. (7666407)
1995
38
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. (7702086)
1995
39
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. (8012398)
1994
40
Hypochondroplasia (20301650)
1993
41
Basilar impression in a child with hypochondroplasia. (2029297)
1991
42
Growth of children with hypochondroplasia treated with growth hormone for up to three years. (1806487)
1991
43
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
44
Growth and growth hormone therapy in hypochondroplasia. (2239275)
1990
45
Achondroplasia-hypochondroplasia complex. (3591840)
1987
46
Prenatal diagnosis of hypochondroplasia. (3911194)
1985
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:

7 (show all 24)
id Gene Variation 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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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
29.5FGFR1, FGF2
39.5FGF2, FGFR1
49.5FGF2, FGFR1
5
Show member pathways
Angiogenesis38
9.5FGF2, FGFR2
69.3FGFR3, FGFR1, FGFR2
7
Show member pathways
9.3FGFR3, FGFR1, FGFR2
8
Show member pathways
9.3FGFR3, FGFR1, FGFR2
99.3FGFR2, FGFR1, FGFR3
10
Show member pathways
9.2FGFR3, FGF2, FGFR1
118.9IGF1, FGFR1, FGF2
128.9IGF1, FGFR2, FGF2
138.8FGFR2, FGFR1, FGF2, FGFR3
148.8FGFR2, FGFR1, FGF2, FGFR3
158.8FGFR2, FGFR1, FGF2, FGFR3
16
Show member pathways
8.8FGFR3, FGF2, FGFR1, FGFR2
17
Show member pathways
8.7FGFR3, FGFR1, FGFR2, IGF1
18
Show member pathways
8.7IGF1, FGFR2, FGFR1, FGFR3
198.6FGFR3, FGF2, FGFR1, IGF1
208.5IGF1, FGF3, FGFR1, FGF2
21
Show member pathways
8.4FGFR2, FGF3, FGFR1, FGF2, FGFR3
22
Show member pathways
MAPK signaling pathway38
8.4FGFR2, FGF3, FGFR1, FGF2, FGFR3
23
Show member pathways
8.4FGFR2, FGF3, FGFR1, FGF2, FGFR3
24
Show member pathways
8.4FGFR2, FGF3, FGFR1, FGF2, FGFR3
25
Show member pathways
8.4FGFR2, FGF3, FGFR1, FGF2, FGFR3
26
Show member pathways
8.4FGFR2, FGF3, FGFR1, FGF2, FGFR3
27
Show member pathways
8.4FGFR2, FGF3, FGFR1, FGF2, FGFR3
28
Show member pathways
8.4FGFR2, FGF3, FGFR1, FGF2, FGFR3
29
Show member pathways
8.4FGFR2, FGF3, FGFR1, FGF2, FGFR3
30
Show member pathways
8.4FGFR2, FGF3, FGFR1, FGF2, FGFR3
318.4FGFR3, FGF2, FGFR1, FGF3, FGFR2
32
Show member pathways
8.1FGF2, FGFR1, FGFR2, IGF1, FGFR3
33
Show member pathways
8.1FGFR3, FGF2, FGFR1, FGFR2, IGF1
34
Show member pathways
8.1IGF1, FGFR2, FGFR1, FGF2, FGFR3
35
Show member pathways
8.1FGFR3, FGF2, FGFR1, FGFR2, IGF1
36
Show member pathways
8.1IGF1, FGFR2, FGFR1, FGF2, FGFR3
37
Show member pathways
8.1IGF1, FGFR2, FGFR1, FGF2, FGFR3
38
Show member pathways
8.1IGF1, FGFR2, FGFR1, FGF2, FGFR3
39
Show member pathways
8.1IGF1, FGFR2, FGFR1, FGF2, FGFR3
40
Show member pathways
8.1IGF1, FGFR2, FGFR1, FGF2, FGFR3
41
Show member pathways
8.1IGF1, FGFR2, FGFR1, FGF2, FGFR3
42
Show member pathways
7.8IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3
43
Show member pathways
7.8IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3
447.8IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3
45
Show member pathways
Signaling Pathways in Glioblastoma38
7.8IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3
46
Show member pathways
7.8IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3
47
Show member pathways
7.8IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3
48
Show member pathways
7.8FGFR3, FGF2, FGFR1, FGF3, FGFR2, IGF1
497.8IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3
50
Show member pathways
7.8IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3

Compounds for genes affiliated with Hypochondroplasia

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Compounds related to Hypochondroplasia according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1pazopanib51 1311.1FGFR1, FGFR3
2su6668459.9FGFR1, FGF2
3sucrose octasulfate45 1310.9FGF2, FGFR2
4sodium chlorate459.9FGFR1, FGF2
5chlorate459.9FGF2, FGFR1
6regorafenib51 1310.9FGFR1, FGFR2
75-methylthioadenosine459.8FGF2, FGFR2
8fiin 1 hydrochloride619.7FGFR1, FGFR3, FGFR2
9su 5402619.7FGFR3, FGFR1, FGFR2
10pd 161570619.7FGFR2, FGFR1, FGFR3
11cmdb7459.7IGF1, FGF2
12palifermin45 1310.7FGFR3, FGFR1, FGFR2
13rhodostomin459.7IGF1, FGF2
14ponatinib51 1310.7FGFR2, FGFR3, FGFR1
15phenylalanine459.6FGFR3, FGFR1, FGFR2
16thalidomide45 51 61 1312.6FGFR3, FGFR2, FGF2
17phosphotyrosine459.5FGFR1, FGFR2, FGFR3
18chondroitin sulfate45 2610.5FGFR2, FGFR1, FGF2
19alginate459.4FGF2, IGF1
20bromodeoxyuridine459.4FGFR1, FGF2, FGFR2
21heparan sulfate45 2610.4FGFR1, FGF2, FGFR2
22ganciclovir45 1310.4TK1, FGF2, FGFR2
23polysaccharide459.3FGF2, FGFR2, FGFR1
24paclitaxel45 51 1311.3FGFR2, FGFR1, FGF2
25lysine459.3FGFR2, FGFR3, FGFR1
26ribonucleic acid459.3FGFR1, FGFR2, IGF1
27oligonucleotide459.2FGFR3, FGFR1, FGFR2, FGF3
28su5402459.2FGFR3, FGF2, FGFR1, FGFR2
29pd 17307445 6110.2FGFR1, FGF2, FGFR2, FGFR3
30sb 20358045 6110.2FGF2, FGFR1, IGF1
31agar459.1FGF2, FGFR1, FGF3, FGFR2
32paraffin459.1FGF2, FGFR3, FGFR2
33heparin45 30 26 1312.1FGFR1, FGF2, FGFR2, FGF3
34clonidine45 51 30 1312.0IGF1, FGF2
35ly294002459.0FGFR1, IGF1, FGF2
36suramin45 30 1310.9FGFR1, IGF1, FGFR2, FGF2
37pd 98,059458.9FGFR2, IGF1, FGF2, FGFR1
38genistein45 30 61 3 26 1313.8FGF2, FGFR1, FGFR2, IGF1
39phosphatidylinositol458.8FGFR1, FGF2, IGF1, FGFR2
40steroid458.7IGF1, SHOX, FGFR2, FGF3, FGFR1
41retinoic acid45 269.6FGFR1, FGFR2, IGF1, FGF2
42thymidine45 269.4FGFR1, IGF1, TK1, FGFR2, FGF2
43glucose458.3TKTL1, IGF1, FGFR1, FGFR2
44vegf458.2FGFR1, FGFR3, FGF2, FGF3, FGFR2, IGF1
45serine458.0TK1, FGF2, FGFR1, FGFR2, FGFR3, IGF1
46tyrosine458.0FGFR1, FGF2, TK1, FGFR2, FGFR3, IGF1
47estrogen458.0FGF2, IGF1, FGFR1, FGFR2, TK1, SHOX
48calcium45 51 26 1310.9TK1, FGFR3, FGFR1, FGFR2, TKTL1

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:00160239.3FGFR3, FGFR1, FGFR2
2extracellular regionGO:00055767.5FGFR3, 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:009008010.1FGFR3, FGFR1
2lens fiber cell developmentGO:007030710.1FGFR2, FGFR3
3negative regulation of mitosisGO:004583910.1FGFR3, FGFR2
4fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.0FGFR1, FGFR2
5bone morphogenesisGO:006034910.0FGFR3, FGFR2
6ventricular zone neuroblast divisionGO:002184710.0FGFR2, FGFR1
7otic vesicle formationGO:003091610.0FGFR2, FGF3
8mesenchymal cell differentiationGO:004876210.0FGFR2, FGFR1
9lung-associated mesenchyme developmentGO:006048410.0FGFR1, FGFR2
10branching involved in salivary gland morphogenesisGO:006044510.0FGFR2, FGFR1
11response to axon injuryGO:004867810.0FGF2, FGFR3
12positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.9FGF2, FGFR3
13positive regulation of phospholipase C activityGO:00108639.9FGFR1, FGF2
14chondrocyte differentiationGO:00020629.9FGFR3, FGFR1
15skeletal system morphogenesisGO:00487059.9FGFR1, FGFR2
16positive regulation of cell cycleGO:00457879.9FGFR2, FGFR1
17midbrain developmentGO:00309019.8FGFR2, FGFR1
18positive regulation of mesenchymal cell proliferationGO:00020539.8FGFR1, FGFR2
19digestive tract developmentGO:00485659.8FGFR2, TK1
20lung lobe morphogenesisGO:00604639.8FGFR2, IGF1
21prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:00605279.8IGF1, FGFR2
22ureteric bud developmentGO:00016579.8FGFR2, FGFR1
23positive regulation of cerebellar granule cell precursor proliferationGO:00219409.7FGF2, IGF1
24positive regulation of phospholipase activityGO:00105189.7FGFR2, FGFR1, FGFR3
25negative regulation of epithelial cell proliferationGO:00506809.7FGFR3, FGFR2
26substantia nigra developmentGO:00217629.7FGF2, FGFR3
27peptidyl-tyrosine phosphorylationGO:00181089.7FGFR3, FGFR1, FGFR2
28glial cell differentiationGO:00100019.7IGF1, FGF2
29regulation of multicellular organism growthGO:00400149.7FGFR2, IGF1
30lung alveolus developmentGO:00482869.6FGFR2, IGF1
31protein autophosphorylationGO:00467779.6FGFR1, FGFR3, FGFR2
32cell-cell signalingGO:00072679.6FGFR2, FGF3, FGFR3
33organ inductionGO:00017599.6FGF2, FGFR1, FGF3
34positive regulation of ERK1 and ERK2 cascadeGO:00703749.6FGF2, FGFR3, FGFR2
35positive regulation of cell divisionGO:00517819.5FGF3, FGF2, FGFR2
36positive regulation of cardiac muscle cell proliferationGO:00600459.5FGF2, FGFR1, FGFR2
37positive regulation of smooth muscle cell proliferationGO:00486619.5FGFR2, IGF1
38positive regulation of canonical Wnt signaling pathwayGO:00902639.4FGFR3, FGFR2
39positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.3IGF1, FGFR1
40positive regulation of osteoblast differentiationGO:00456699.3IGF1, FGF2
41skeletal system developmentGO:00015019.2IGF1, SHOX, FGFR1, FGFR3
42positive regulation of MAPK cascadeGO:00434109.1FGFR1, IGF1, FGFR2, FGFR3
43insulin receptor signaling pathwayGO:00082868.8FGFR3, FGF3, FGFR1, FGF2, FGFR2
44fibroblast growth factor receptor signaling pathwayGO:00085438.8FGF3, FGFR1, FGFR3, FGFR2, FGF2
45Fc-epsilon receptor signaling pathwayGO:00380958.8FGFR3, FGFR1, FGFR2, FGF3, FGF2
46epidermal growth factor receptor signaling pathwayGO:00071738.8FGF3, FGFR2, FGFR1, FGF2, FGFR3
47neurotrophin TRK receptor signaling pathwayGO:00480118.8FGFR3, FGF2, FGFR1, FGF3, FGFR2
48innate immune responseGO:00450878.8FGF3, FGFR1, FGFR3, FGF2, FGFR2
49phosphatidylinositol-mediated signalingGO:00480158.2FGF3, FGFR2, IGF1, FGFR1, FGFR3, FGF2
50positive regulation of cell proliferationGO:00082848.2IGF1, 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:00050079.4FGFR2, FGFR1, FGFR3
2protein tyrosine kinase activityGO:00047139.4FGFR3, FGFR1, FGFR2
3fibroblast growth factor receptor bindingGO:00051049.3FGF2, FGF3
4heparin bindingGO:00082019.1FGFR2, FGFR1, FGF2
5fibroblast growth factor bindingGO:00171348.9FGFR3, FGF2, FGFR1, FGFR2
6growth factor activityGO:00080838.9FGF2, FGF3, IGF1
7protein bindingGO:00055157.4SHOX, FGFR2, FGF3, FGFR1, FGF2, FGFR3

Products for genes affiliated with Hypochondroplasia

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Sources for Hypochondroplasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet