MCID: HYP042
MIFTS: 55

Hypochondroplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Hypochondroplasia

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Aliases & Descriptions for Hypochondroplasia:

Name: Hypochondroplasia 50 11 69 22 46 23 24 13 52 68 25 12 48
Hch 46 24 68
 
Hypochondrodysplasia 24

Characteristics:

Orphanet epidemiological data:

52
hypochondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
hypochondroplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 146000
Disease Ontology11 DOID:0080041
Orphanet52 ORPHA429
UMLS via Orphanet67 C0410529
ICD10 via Orphanet29 Q77.4
MedGen35 C0410529

Summaries for Hypochondroplasia

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NIH Rare Diseases:46 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 thanatophoric dysplasia, type i and achondroplasia, 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 Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Endochondral Ossification. Affiliated tissues include bone, temporal lobe and skin, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:11 An osteochondrodysplasia that has material basis in mutation in the fgfr3 gene which affects ossification of cartilage and results in short limb dwarfism.

UniProtKB/Swiss-Prot:68 Hypochondroplasia: Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.

Genetics Home Reference:24 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:50 Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and... (146000) more...

Wikipedia:69 Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the... more...

GeneReviews summary for NBK1477

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 59)
idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia, type i26.7FGF3, FGFR1, FGFR2, FGFR3, NPPC, SHOX
2achondroplasia11.0
3autism susceptibility, x-linked 210.3FGFR3, SHOX
4osteopetrosis and infantile neuroaxonal dystrophy10.2FGFR1, FGFR3
5syphilitic myelopathy10.2FGFR1, FGFR3
6mite infestation10.2FGFR2, FGFR3
7apert syndrome10.1FGFR2, FGFR3
8acanthosis nigricans10.1
9breast cancer10.1
10accommodative esotropia10.1FGFR2, FGFR3
11crouzon syndrome with acanthosis nigricans10.1FGFR2, FGFR3
12grade iii astrocytoma10.1FGFR1, FGFR3
13pfn1-related amyotrophic lateral sclerosis10.1FGFR1, FGFR2
14skeletal dysplasias10.0
15skeletal dysplasia10.0
16glaucomatocyclitic crisis10.0FGFR2, FGFR3
17uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis10.0FGFR1, FGFR2
18scleredema adultorum10.0FGFR2, FGFR3
19hidradenitis10.0FGFR1, SHOX
20weill-marchesani syndrome9.9FGFR1, FGFR2
21dwarfism9.9
22osteopathia striata with pigmentary dermopathy including white forelock9.9FGFR3, NPPC
23hepatitis c virus9.9
24hepatitis9.9
25motor neuron disease9.9
26hepatitis c9.9
27neuronitis9.9
28epiphyseal chondrodysplasia, miura type9.8FGFR3, NPPC
29y-linked disease9.8FGFR2, FGFR3
30adult astrocytic tumour9.8FGFR1, FGFR3
31muenke syndrome9.8
32retinoblastoma9.8
33insulin-like growth factor i9.8
34leri-weill dyschondrosteosis9.8
35spinal stenosis9.8
36down syndrome9.8
37epilepsy9.8
38focal epilepsy9.8
39turner syndrome9.8
40progeria9.8FGFR1, FGFR2
41flnb-related disorders9.7FGFR1, FGFR2, FGFR3
42myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.7FGFR1, FGFR2
43plasmalogens synthesis deficiency isolated9.7FGFR1, FGFR2, FGFR3
44trigonocephaly 19.7FGFR1, FGFR2, FGFR3
45bladder cancer, somatic9.7FGFR1, FGFR2, FGFR3
46hypogonadotropic hypogonadism 2 with or without anosmia9.7FGFR1, FGFR2, FGFR3
47central nervous system leukemia9.7FGFR1, FGFR2, FGFR3
48antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.7FGFR1, FGFR2, FGFR3
49beare-stevenson cutis gyrata syndrome9.7FGFR1, FGFR2, FGFR3
50ischemic bone disease9.7FGFR1, FGFR2, 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:

 52 (show all 20)
  • macrocephaly
  • abnormality of the metaphyses
  • brachydactyly syndrome
  • intellectual disability
  • short toe
  • abnormality of pelvic girdle bone morphology
  • scoliosis
  • skeletal dysplasia
  • osteoarthritis
  • abnormality of the femur
  • genu varum
  • micromelia
  • hyperlordosis
  • abnormal form of the vertebral bodies
  • spinal canal stenosis
  • joint hyperflexibility
  • bowing of the long bones
  • abnormality of the elbow
  • sleep apnea
  • childhood onset short-limb short stature

HPO human phenotypes related to Hypochondroplasia:

(show all 31)
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 joint hypermobility typical (50%) HP:0001382
8 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
9 abnormality of the femur typical (50%) HP:0002823
10 genu varum typical (50%) HP:0002970
11 abnormality of the elbow typical (50%) HP:0009811
12 macrocephaly occasional (7.5%) HP:0000256
13 intellectual disability occasional (7.5%) HP:0001249
14 apnea occasional (7.5%) HP:0002104
15 scoliosis occasional (7.5%) HP:0002650
16 osteoarthritis occasional (7.5%) HP:0002758
17 hyperlordosis occasional (7.5%) HP:0003307
18 spinal canal stenosis occasional (7.5%) HP:0003416
19 cognitive impairment occasional (7.5%) HP:0100543
20 macrocephaly HP:0000256
21 malar flattening HP:0000272
22 brachydactyly syndrome HP:0001156
23 limited elbow extension HP:0001377
24 frontal bossing HP:0002007
25 abnormality of pelvic girdle bone morphology HP:0002644
26 lumbar hyperlordosis HP:0002938
27 genu varum HP:0002970
28 flared metaphysis HP:0003015
29 short long bone HP:0003026
30 aplasia/hypoplasia of the extremities HP:0009815
31 childhood onset short-limb short stature HP:0011405

Drugs & Therapeutics for Hypochondroplasia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated at Least 3 Years or Until Near Final Height, When Applicable, in Comparison With a Historic Cohort of Non-treaActive, not recruitingNCT01111019Phase 2
2C-Type Natriuretic Peptide and AchondroplasiaCompletedNCT01541306
3A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With SomatropinCompletedNCT01435629
4Study of Skeletal Disorders and Short StatureCompletedNCT00001754

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 Hypochondroplasia25 23 FGFR3

Anatomical Context for Hypochondroplasia

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MalaCards organs/tissues related to Hypochondroplasia:

34
Bone, Temporal lobe, Skin, Bone marrow

Animal Models for Hypochondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Hypochondroplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.4FGF3, FGFR1, FGFR2, FGFR3
2MP:00053828.3FGFR1, FGFR2, FGFR3, NPPC
3MP:00030128.0FGF3, FGFR1, FGFR2, FGFR3
4MP:00053897.6FGF3, FGFR1, FGFR2, FGFR3, NPPC
5MP:00053907.6FGF3, FGFR1, FGFR2, FGFR3, NPPC
6MP:00053717.3FGF3, FGFR1, FGFR2, FGFR3, NPPC

Publications for Hypochondroplasia

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Articles related to Hypochondroplasia:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. (26814021)
2016
2
Low bone mineral density in achondroplasia and hypochondroplasia. (26716907)
2015
3
Growth hormone treatment in patients with hypochondroplasia. (25531227)
2014
4
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? (25505998)
2014
5
Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K). (23614116)
2013
6
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review. (24411048)
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
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. (22137367)
2012
10
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). (21873755)
2011
11
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. (21225389)
2011
12
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. (20226364)
2010
13
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. (21510009)
2010
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
Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between dyschondrosteosis, Turner syndrome, and hypochondroplasia. (16796318)
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
Disproportionate stature but normal height in hypochondroplasia. (15909185)
2005
20
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. (12476453)
2003
21
Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia]. (15022403)
2003
22
The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. (12733711)
2003
23
Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia. (11297088)
2001
24
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. (11071087)
2000
25
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. (11015576)
2000
26
Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia. (10890199)
2000
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
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. (10360393)
1999
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
Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. (9372781)
1997
35
Clinical and genetic heterogeneity of hypochondroplasia. (8880574)
1996
36
Confirmatory linkage of hypochondroplasia to chromosome arm 4p. (7677163)
1995
37
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. (7670477)
1995
38
A common FGFR3 gene mutation in hypochondroplasia. (8589686)
1995
39
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
40
Molecular genetics of hypochondroplasia. (1678996)
1991
41
The frequency of mental retardation in hypochondroplasia. (1956068)
1991
42
Prenatal diagnosis of hypochondroplasia. (3911194)
1985
43
An autosomal recessive bone dysplasia syndrome resembling hypochondroplasia. (4039054)
1985
44
Multiple exostotic hypochondroplasia: syndrome of combined hypochondroplasia and multiple exostoses. (6332296)
1984
45
Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. (7298674)
1981
46
Hypochondroplasia: clinical and radiological aspects in 39 cases. (472320)
1979
47
Hypochondroplasia. (727810)
1978
48
Hypochondroplasia. (1158967)
1975
49
The genetic entity of hypochondroplasia. (4838890)
1974
50
Hypochondroplasia. A report of five kindreds. (5783850)
1969

Variations for Hypochondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:

68
id Symbol AA change Variation ID SNP ID
1FGFR3p.Ile538ValVAR_004157rs80053154
2FGFR3p.Asn540LysVAR_004158rs28933068
3FGFR3p.Asn540ThrVAR_004159rs77722678
4FGFR3p.Asn540SerVAR_018389rs77722678
5FGFR3p.Lys650GlnVAR_018390rs78311289

Clinvar genetic disease variations for Hypochondroplasia:

5 (show all 23)
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_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys)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
9FGFR3NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys)single nucleotide variantPathogenicrs121913114GRCh37Chr 4, 1803657: 1803657
10FGFR3NM_000142.4(FGFR3): c.833A> G (p.Tyr278Cys)single nucleotide variantPathogenicrs121913115GRCh37Chr 4, 1803655: 1803655
11FGFR3NM_000142.4(FGFR3): c.251C> T (p.Ser84Leu)single nucleotide variantPathogenicrs121913116GRCh37Chr 4, 1801122: 1801122
12FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
13FGFR3NM_000142.4(FGFR3): c.344A> T (p.Gln115Leu)single nucleotide variantPathogenicrs587778769GRCh37Chr 4, 1801215: 1801215
14NP_000133.1: p.Gly65Argundetermined variantPathogenic
15FGFR3NM_000142.4(FGFR3): c.791C> T (p.Thr264Met)single nucleotide variantPathogenicrs587778773GRCh37Chr 4, 1803613: 1803613
16FGFR3NM_000142.4(FGFR3): c.1024G> T (p.Gly342Cys)single nucleotide variantPathogenicrs587778775GRCh37Chr 4, 1805512: 1805512
17FGFR3NM_000142.4(FGFR3): c.1142T> A (p.Val381Glu)single nucleotide variantPathogenicrs587778776GRCh37Chr 4, 1806123: 1806123
18FGFR3NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr)single nucleotide variantPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
19FGFR3NM_000142.4(FGFR3): c.597C> T (p.His199=)single nucleotide variantPathogenicrs587778801GRCh37Chr 4, 1803245: 1803245
20NM_000142.4: c.783A> Csingle nucleotide variantPathogenic
21FGFR3NM_000142.4(FGFR3): c.801G> T (p.Leu267=)single nucleotide variantPathogenicrs587778811GRCh37Chr 4, 1803623: 1803623
22FGFR3NM_000142.4(FGFR3): c.970C> G (p.Leu324Val)single nucleotide variantPathogenicrs587778816GRCh37Chr 4, 1805458: 1805458
23FGFR3NM_000142.4(FGFR3): c.983A> T (p.Asn328Ile)single nucleotide variantPathogenicrs587778817GRCh37Chr 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 all 35)
idSuper pathwaysScoreTop Affiliating Genes
19.2FGFR1, FGFR3
29.2FGFR1, FGFR3
39.0FGFR1, FGFR2
4
Show member pathways
8.6FGFR1, FGFR2, FGFR3
58.6FGFR1, FGFR2, FGFR3
6
Show member pathways
8.6FGFR1, FGFR2, FGFR3
7
Show member pathways
8.6FGFR1, FGFR2, FGFR3
8
Show member pathways
8.6FGFR1, FGFR2, FGFR3
9
Show member pathways
8.6FGFR1, FGFR2, FGFR3
108.6FGFR1, FGFR2, FGFR3
118.6FGFR1, FGFR2, FGFR3
12
Show member pathways
8.6FGFR1, FGFR2, FGFR3
138.6FGFR1, FGFR2, FGFR3
148.6FGFR1, FGFR2, FGFR3
158.6FGFR1, FGFR2, FGFR3
16
Show member pathways
8.6FGFR1, FGFR2, FGFR3
17
Show member pathways
8.5FGF3, FGFR1, FGFR2
18
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
19
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
208.1FGF3, FGFR1, FGFR2, FGFR3
21
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
22
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
23
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
24
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
25
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
26
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
278.1FGF3, FGFR1, FGFR2, FGFR3
28
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
298.1FGF3, FGFR1, FGFR2, FGFR3
30
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
318.1FGF3, FGFR1, FGFR2, FGFR3
328.1FGF3, FGFR1, FGFR2, FGFR3
33
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
34
Show member pathways
8.1FGF3, FGFR1, FGFR2, FGFR3
35
Show member pathways
8.1FGF3, FGFR1, FGFR2, 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
1extracellular regionGO:00055767.6FGF3, FGFR1, FGFR2, FGFR3, NPPC

Biological processes related to Hypochondroplasia according to GeneCards Suite gene sharing:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell divisionGO:00517819.9FGF3, FGFR2
2bone mineralizationGO:00302829.8FGFR2, FGFR3
3fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
4bone morphogenesisGO:00603499.8FGFR2, FGFR3
5post-embryonic developmentGO:00097919.8FGFR2, NPPC
6chondrocyte differentiationGO:00020629.7FGFR1, FGFR3
7mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
8positive regulation of cardiac muscle cell proliferationGO:00600459.6FGFR1, FGFR2
9positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
10skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
11branching involved in salivary gland morphogenesisGO:00604459.6FGFR1, FGFR2
12positive regulation of mesenchymal cell proliferationGO:00020539.6FGFR1, FGFR2
13ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
14midbrain developmentGO:00309019.5FGFR1, FGFR2
15ureteric bud developmentGO:00016579.4FGFR1, FGFR2
16inner ear morphogenesisGO:00424729.3FGFR1, FGFR2
17cell-cell signalingGO:00072679.3FGF3, FGFR2, FGFR3
18positive regulation of phospholipase activityGO:00105189.1FGFR1, FGFR2, FGFR3
19lung-associated mesenchyme developmentGO:00604849.1FGFR1, FGFR2
20skeletal system developmentGO:00015019.1FGFR1, FGFR3, SHOX
21protein autophosphorylationGO:00467779.1FGFR1, FGFR2, FGFR3
22regulation of multicellular organism growthGO:00400149.0FGFR2, NPPC
23positive regulation of MAPK cascadeGO:00434109.0FGFR1, FGFR2, FGFR3
24orbitofrontal cortex developmentGO:00217698.9FGFR1, FGFR2
25phosphatidylinositol-3-phosphate biosynthetic processGO:00360928.8FGF3, FGFR1, FGFR2, FGFR3
26phosphatidylinositol phosphorylationGO:00468548.7FGF3, FGFR1, FGFR2, FGFR3
27regulation of phosphatidylinositol 3-kinase signalingGO:00140668.7FGF3, FGFR1, FGFR2, FGFR3
28phosphatidylinositol-mediated signalingGO:00480158.6FGF3, FGFR1, FGFR2, FGFR3
29fibroblast growth factor receptor signaling pathwayGO:00085438.6FGF3, FGFR1, FGFR2, FGFR3
30peptidyl-tyrosine phosphorylationGO:00181088.5FGF3, FGFR1, FGFR2, FGFR3
31MAPK cascadeGO:00001658.5FGF3, FGFR1, FGFR2, FGFR3
32positive regulation of GTPase activityGO:00435478.1FGF3, FGFR1, FGFR2, FGFR3
33positive regulation of cell proliferationGO:00082848.1FGF3, FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.2FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171348.7FGFR1, FGFR2, FGFR3
31-phosphatidylinositol-3-kinase activityGO:00163038.5FGF3, FGFR1, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469348.4FGF3, FGFR1, FGFR2, FGFR3
5Ras guanyl-nucleotide exchange factor activityGO:00050888.1FGF3, FGFR1, FGFR2, FGFR3
6protein tyrosine kinase activityGO:00047137.8FGF3, FGFR1, FGFR2, FGFR3

Sources for Hypochondroplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet