MCID: HYP042
MIFTS: 61

Hypochondroplasia malady

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

Aliases & Classifications for Hypochondroplasia

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Hypochondroplasia, Aliases & Descriptions:

Name: Hypochondroplasia 45 9 10 63 19 41 20 21 11 43 47 22
Hch 63 41 21
 
Hypochondrodysplasia 63 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
hypochondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 146000
Disease Ontology9 DOID:0080041
Orphanet47 429
ICD10 via Orphanet26 Q77.4
UMLS via Orphanet61 C0410529

Summaries for Hypochondroplasia

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NIH Rare Diseases:41 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:9 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.

OMIM:45 Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and... (146000) more...

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

GeneReviews summary for hypochondroplasia

Related Diseases for Hypochondroplasia

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

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia31.4FGF3, FGFR2, FGFR3
2acanthosis nigricans30.7FGFR3, FGFR2, IGF1
3thanatophoric dysplasia, type i30.5FGFR3, FGFR2
4turner syndrome30.3SHOX, IGF1
5muenke syndrome30.2FGFR2, FGFR1, FGFR3
6retinoblastoma30.0FGFR2, FGFR3, FGF3
7dwarfism29.9FGFR3, FGFR1, SHOX, IGF1, FGFR2
8breast cancer29.6FGFR2, FGF2, TK1, FGFR1, FGF3
9osteochondroma10.5FGFR3
10osteoglophonic dysplasia10.5FGFR1
11beare-stevenson cutis gyrata syndrome10.4FGFR2
12antley-bixler syndrome10.4FGFR2
13klinefelter's syndrome10.4FGFR1
14ladd syndrome10.3FGFR3, FGFR2
15strabismus10.3FGFR3, FGFR2
16pfeiffer syndrome10.3FGFR1, FGFR2
17skeletal dysplasias10.2
18syndactyly10.2FGFR3, FGFR2
19prostatic hypertrophy10.2FGFR1, FGFR2
20fgfr-related craniosynostosis syndromes10.1FGFR3, FGFR2, FGFR1
21jackson-weiss syndrome10.1FGFR3, FGFR1, FGFR2
22acrocephalosyndactylia10.1FGFR1, FGFR2, FGFR3
23saethre-chotzen syndrome10.1FGFR2, FGFR3, FGFR1
24synostosis10.1FGFR2, FGFR3, FGFR1
25developmental disabilities10.1FGFR1, FGFR3, FGFR2
26hypogonadism10.1IGF1, FGFR1
27hepatitis c virus10.0
28hepatitis10.0
29motor neuron disease10.0
30hepatitis c10.0
31neuronitis10.0
32cleft palate, isolated10.0FGFR2, FGFR1
33insulin-like growth factor i10.0
34leri-weill dyschondrosteosis10.0
35spinal stenosis10.0
36down syndrome10.0
37focal epilepsy10.0
38mental retardation10.0
39skeletal dysplasia multi-gene panels10.0FGFR2, FGFR3, SHOX, FGFR1
40microvascular complications of diabetes 110.0FGF2, IGF1
41bladder cancer, somatic9.9FGFR2, FGFR3, FGF2
42kaposi sarcoma9.9FGF3, FGF2, FGFR2
43teratocarcinoma9.9FGFR2, FGF2
44microvascular complications of diabetes 59.9IGF1, FGF2
45pituitary adenoma9.8FGFR2, IGF1, FGF2
46astrocytoma9.8FGF2, FGFR2, FGFR1
47osteoarthritis9.8IGF1, FGFR1, FGF2
48bone marrow cancer9.8FGF2, FGFR1
49apert syndrome9.8FGF2, FGFR1, FGFR3, FGFR2
50crouzon syndrome9.8FGF2, FGFR2, FGFR3, FGFR1

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:

 47 (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:

31
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:

62
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 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 Suite gene sharing:

(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
Angiogenesis36
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 pathway36
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 Glioblastoma36
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 Suite gene sharing:

(show all 48)
idCompoundScoreTop Affiliating Genes
1pazopanib49 1211.1FGFR3, FGFR1
2su6668439.9FGF2, FGFR1
3sucrose octasulfate43 1210.9FGFR2, FGF2
4chlorate439.9FGFR1, FGF2
5sodium chlorate439.9FGFR1, FGF2
6regorafenib49 1210.9FGFR2, FGFR1
75-methylthioadenosine439.8FGFR2, FGF2
8pd 161570599.7FGFR2, FGFR1, FGFR3
9fiin 1 hydrochloride599.7FGFR2, FGFR1, FGFR3
10su 5402599.7FGFR2, FGFR1, FGFR3
11rhodostomin439.7IGF1, FGF2
12palifermin43 1210.7FGFR2, FGFR1, FGFR3
13cmdb7439.7IGF1, FGF2
14ponatinib49 1210.7FGFR3, FGFR1, FGFR2
15phenylalanine439.6FGFR3, FGFR1, FGFR2
16thalidomide43 49 59 1212.5FGFR2, FGF2, FGFR3
17phosphotyrosine439.5FGFR2, FGFR1, FGFR3
18chondroitin sulfate43 2410.5FGFR2, FGFR1, FGF2
19alginate439.4FGF2, IGF1
20bromodeoxyuridine439.4FGF2, FGFR1, FGFR2
21heparan sulfate43 2410.4FGFR2, FGFR1, FGF2
22ganciclovir43 1210.4TK1, FGFR2, FGF2
23polysaccharide439.3FGF2, FGFR1, FGFR2
24paclitaxel43 49 1211.3FGFR2, FGFR1, FGF2
25lysine439.3FGFR3, FGFR1, FGFR2
26ribonucleic acid439.3IGF1, FGFR2, FGFR1
27oligonucleotide439.2FGFR2, FGF3, FGFR1, FGFR3
28su5402439.2FGFR3, FGF2, FGFR1, FGFR2
29pd 17307443 5910.2FGFR2, FGFR1, FGF2, FGFR3
30sb 20358043 5910.2IGF1, FGFR1, FGF2
31agar439.1FGF2, FGFR1, FGF3, FGFR2
32paraffin439.1FGFR3, FGF2, FGFR2
33heparin43 28 24 1212.1FGFR2, FGF3, FGFR1, FGF2
34clonidine43 49 28 1212.0IGF1, FGF2
35ly294002439.0FGF2, FGFR1, IGF1
36suramin43 28 1210.9IGF1, FGFR2, FGFR1, FGF2
37pd 98,059438.9IGF1, FGFR2, FGFR1, FGF2
38genistein43 28 59 2 24 1213.8IGF1, FGFR2, FGFR1, FGF2
39phosphatidylinositol438.8FGF2, FGFR1, FGFR2, IGF1
40steroid438.7IGF1, SHOX, FGFR2, FGF3, FGFR1
41retinoic acid43 249.6FGF2, FGFR1, FGFR2, IGF1
42thymidine43 249.4IGF1, TK1, FGFR2, FGFR1, FGF2
43glucose438.3IGF1, TKTL1, FGFR2, FGFR1
44vegf438.2IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3
45serine438.0IGF1, TK1, FGFR2, FGFR1, FGF2, FGFR3
46estrogen438.0IGF1, SHOX, TK1, FGFR2, FGFR1, FGF2
47tyrosine438.0IGF1, TK1, FGFR2, FGFR1, FGF2, FGFR3
48calcium43 49 24 1210.9TKTL1, TK1, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Hypochondroplasia

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Cellular components related to Hypochondroplasia according to GeneCards Suite gene sharing:

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 Suite gene sharing:

(show top 50)    (show all 56)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.1FGFR1, FGFR3
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:002184710.0FGFR1, FGFR2
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:006044510.0FGFR1, FGFR2
11response to axon injuryGO:004867810.0FGF2, FGFR3
12positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.9FGFR3, FGF2
13positive regulation of phospholipase C activityGO:00108639.9FGFR1, FGF2
14chondrocyte differentiationGO:00020629.9FGFR3, FGFR1
15skeletal system morphogenesisGO:00487059.9FGFR2, FGFR1
16positive regulation of cell cycleGO:00457879.9FGFR2, FGFR1
17midbrain developmentGO:00309019.8FGFR1, FGFR2
18positive regulation of mesenchymal cell proliferationGO:00020539.8FGFR2, FGFR1
19digestive tract developmentGO:00485659.8TK1, FGFR2
20lung lobe morphogenesisGO:00604639.8IGF1, FGFR2
21prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:00605279.8IGF1, FGFR2
22ureteric bud developmentGO:00016579.8FGFR1, FGFR2
23positive regulation of cerebellar granule cell precursor proliferationGO:00219409.7FGF2, IGF1
24positive regulation of phospholipase activityGO:00105189.7FGFR3, FGFR1, FGFR2
25negative regulation of epithelial cell proliferationGO:00506809.7FGFR3, FGFR2
26substantia nigra developmentGO:00217629.7FGF2, FGFR3
27positive regulation of canonical Wnt signaling pathwayGO:00902639.7FGFR3, FGFR2
28peptidyl-tyrosine phosphorylationGO:00181089.7FGFR3, FGFR1, FGFR2
29glial cell differentiationGO:00100019.7IGF1, FGF2
30regulation of multicellular organism growthGO:00400149.7IGF1, FGFR2
31lung alveolus developmentGO:00482869.6FGFR2, IGF1
32protein autophosphorylationGO:00467779.6FGFR3, FGFR1, FGFR2
33cell-cell signalingGO:00072679.6FGFR3, FGF3, FGFR2
34organ inductionGO:00017599.6FGF3, FGFR1, FGF2
35positive regulation of ERK1 and ERK2 cascadeGO:00703749.6FGFR3, FGF2, FGFR2
36positive regulation of cell divisionGO:00517819.5FGFR2, FGF3, FGF2
37positive regulation of cardiac muscle cell proliferationGO:00600459.5FGF2, FGFR1, FGFR2
38positive regulation of smooth muscle cell proliferationGO:00486619.5FGFR2, IGF1
39positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.3FGFR1, IGF1
40skeletal system developmentGO:00015019.2IGF1, SHOX, FGFR1, FGFR3
41positive regulation of MAPK cascadeGO:00434109.1IGF1, FGFR2, FGFR1, FGFR3
42positive regulation of osteoblast differentiationGO:00456699.0FGF2, IGF1
43insulin receptor signaling pathwayGO:00082868.8FGFR2, FGF3, FGFR1, FGF2, FGFR3
44fibroblast growth factor receptor signaling pathwayGO:00085438.8FGFR2, FGF3, FGFR1, FGF2, FGFR3
45Fc-epsilon receptor signaling pathwayGO:00380958.8FGFR3, FGF2, FGFR1, FGF3, FGFR2
46epidermal growth factor receptor signaling pathwayGO:00071738.8FGFR2, FGF3, FGFR1, FGF2, FGFR3
47neurotrophin TRK receptor signaling pathwayGO:00480118.8FGFR3, FGF2, FGFR1, FGF3, FGFR2
48innate immune responseGO:00450878.8FGFR2, FGF3, FGFR1, FGF2, FGFR3
49phosphatidylinositol-mediated signalingGO:00480158.2FGFR3, FGF2, FGFR1, FGF3, FGFR2, IGF1
50positive regulation of cell proliferationGO:00082848.2IGF1, FGFR2, FGF3, FGFR1, FGF2, FGFR3

Molecular functions related to Hypochondroplasia according to GeneCards Suite gene sharing:

(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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
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35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet