MCID: HYP042
MIFTS: 57

Hypochondroplasia malady

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

Aliases & Classifications for Hypochondroplasia

About this section

Aliases & Descriptions for Hypochondroplasia:

Name: Hypochondroplasia 49 10 11 68 21 45 22 23 47 12 51 67 24
Hch 68 45 23 67
 
Hypochondrodysplasia 68 23

Characteristics:

Orphanet epidemiological data:

51
hypochondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

61
hypochondroplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 146000
Disease Ontology10 DOID:0080041
Orphanet51 429
UMLS via Orphanet66 C0410529
ICD10 via Orphanet28 Q77.4
MedGen34 C0410529

Summaries for Hypochondroplasia

About this section
NIH Rare Diseases:45 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 short stature, abnormal form of the vertebral bodies and micromelia. 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, liver and lung, and related mouse phenotypes are no phenotypic analysis and hearing/vestibular/ear.

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.

UniProtKB/Swiss-Prot:67 Hypochondroplasia: Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.

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

Wikipedia:68 Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the... more...

GeneReviews summary for NBK1477

Related Diseases for Hypochondroplasia

About this section

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia, type i26.7FGF3, FGFR1, FGFR2, FGFR3, NPPC, SHOX
2achondroplasia11.0
3epiphyseal chondrodysplasia, miura type10.2FGFR3, NPPC
4adult astrocytic tumour10.2FGFR1, FGFR3
5acanthosis nigricans10.1
6skeleto cardiac syndrome with thrombocytopenia10.1FGFR3, NPPC
7breast cancer10.1
8sex differentiation disease10.0FGFR1, SHOX
9skeletal dysplasias10.0
10skeletal dysplasia10.0
11dwarfism9.9
12giant cell glioblastoma9.9FGFR1, FGFR3
13cyclotropia9.9FGFR2, FGFR3
14hepatitis c virus9.9
15hepatitis9.9
16motor neuron disease9.9
17hepatitis c9.9
18neuronitis9.9
19tenosynovial giant cell tumor9.9FGFR2, FGFR3
20pfeiffer syndrome type 1, 2 and 39.8FGFR1, FGFR2
21albright's hereditary osteodystrophy9.8FGFR3, NPPC, SHOX
22muenke syndrome9.8
23retinoblastoma9.8
24insulin-like growth factor i9.8
25leri-weill dyschondrosteosis9.8
26spinal stenosis9.8
27down syndrome9.8
28focal epilepsy9.8
29turner syndrome9.8
30bone diseases9.8
31loeys-dietz syndrome9.8FGFR1, FGFR2
32vulvovaginal candidiasis9.7FGFR1, FGFR2
33bardet-biedl syndrome9.6FGFR2, FGFR3
34bronchogenic lung adenocarcinoma9.6FGFR1, FGFR2
35myasthenic syndrome, congenital, 2a, slow-channel9.6FGFR1, FGFR2
36slc16a1-related hyperinsulinism9.6FGFR2, FGFR3, SHOX
37autosomal recessive disease9.6FGFR2, FGFR3
38plagiocephaly and x-linked mental retardation9.5FGFR1, FGFR2, FGFR3
39flna-related periventricular nodular heterotopia9.5FGFR1, FGFR2, FGFR3
40bladder cancer, somatic9.5FGFR1, FGFR2, FGFR3
41hypogonadotropic hypogonadism 2 with or without anosmia9.5FGFR1, FGFR2, FGFR3
42apert syndrome9.5FGFR1, FGFR2, FGFR3
43poland syndrome9.5FGFR1, FGFR2, FGFR3
44diverticulitis of colon9.5FGFR1, FGFR2, FGFR3
45crouzon syndrome with acanthosis nigricans9.5FGFR1, FGFR2, FGFR3
46antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.5FGFR1, FGFR2, FGFR3
47beare-stevenson cutis gyrata syndrome9.5FGFR1, FGFR2, FGFR3
48bone deterioration disease9.5FGFR1, FGFR2, FGFR3
49craniosynostosis, type 19.5FGFR1, FGFR2, FGFR3
50jackson-weiss syndrome9.5FGFR1, FGFR2, FGFR3

Graphical network of the top 20 diseases related to Hypochondroplasia:



Diseases related to hypochondroplasia

Symptoms for Hypochondroplasia

About this section

Symptoms by clinical synopsis from OMIM:

146000

Clinical features from OMIM:

146000

Symptoms:

 51 (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 31)
id Description Frequency HPO Source Accession
1 short stature hallmark (90%) HP:0004322
2 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
3 micromelia hallmark (90%) HP:0002983
4 skeletal dysplasia hallmark (90%) HP:0002652
5 short toe hallmark (90%) HP:0001831
6 brachydactyly syndrome hallmark (90%) HP:0001156
7 abnormality of the elbow typical (50%) HP:0009811
8 genu varum typical (50%) HP:0002970
9 abnormality of the femur typical (50%) HP:0002823
10 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
11 joint hypermobility typical (50%) HP:0001382
12 cognitive impairment occasional (7.5%) HP:0100543
13 spinal canal stenosis occasional (7.5%) HP:0003416
14 hyperlordosis occasional (7.5%) HP:0003307
15 osteoarthritis occasional (7.5%) HP:0002758
16 scoliosis occasional (7.5%) HP:0002650
17 apnea occasional (7.5%) HP:0002104
18 intellectual disability occasional (7.5%) HP:0001249
19 macrocephaly occasional (7.5%) HP:0000256
20 childhood onset short-limb short stature HP:0011405
21 aplasia/hypoplasia of the extremities HP:0009815
22 short long bone HP:0003026
23 flared metaphysis HP:0003015
24 genu varum HP:0002970
25 lumbar hyperlordosis HP:0002938
26 abnormality of pelvic girdle bone morphology HP:0002644
27 frontal bossing HP:0002007
28 limited elbow extension HP:0001377
29 brachydactyly syndrome HP:0001156
30 malar flattening HP:0000272
31 macrocephaly HP:0000256

Drugs & Therapeutics for Hypochondroplasia

About this section

Drugs for Hypochondroplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormone AntagonistsPhase 210002
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 29988
3HormonesPhase 211748
4Natriuretic Peptide, C-Type5
5Natriuretic Agents1403

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

About this section

Genetic tests related to Hypochondroplasia:

id Genetic test Affiliating Genes
1 Hypochondroplasia22 FGFR3

Anatomical Context for Hypochondroplasia

About this section

MalaCards organs/tissues related to Hypochondroplasia:

33
Bone, Liver, Lung, Thyroid, Pituitary, B cells, T cells

Animal Models for Hypochondroplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Hypochondroplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.6FGF3, FGFR1, FGFR2, FGFR3
2MP:00053778.1FGF3, FGFR1, FGFR2, FGFR3
3MP:00053828.1FGFR1, FGFR2, FGFR3, NPPC
4MP:00053717.9FGF3, FGFR1, FGFR2, FGFR3, NPPC
5MP:00053897.8FGF3, FGFR1, FGFR2, FGFR3, NPPC
6MP:00036317.7FGF3, FGFR1, FGFR2, FGFR3, NPPC
7MP:00053907.6FGF3, FGFR1, FGFR2, FGFR3, NPPC

Publications for Hypochondroplasia

About this section

Articles related to Hypochondroplasia:

(show top 50)    (show all 114)
idTitleAuthorsYear
1
Criteria for radiologic diagnosis of hypochondroplasia in neonates. (26867606)
2016
2
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. (26814021)
2016
3
Low bone mineral density in achondroplasia and hypochondroplasia. (26716907)
2015
4
Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis. (26555758)
2015
5
Growth hormone treatment in patients with hypochondroplasia. (25531227)
2014
6
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. (25387261)
2014
7
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. (24839128)
2014
8
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? (25505998)
2014
9
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. (23726269)
2013
10
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. (23045425)
2012
11
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. (23149434)
2012
12
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. (23165795)
2012
13
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
14
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. (20226364)
2010
15
Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. (20890030)
2010
16
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. (17256796)
2007
17
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
18
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. (16721528)
2006
19
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. (16354969)
2006
20
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. (16912704)
2006
21
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. (16418051)
2005
22
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. (16355813)
2005
23
Medial temporal lobe dysgenesis in hypochondroplasia. (16222682)
2005
24
Disproportionate stature but normal height in hypochondroplasia. (15909185)
2005
25
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. (12794698)
2003
26
Hypochondroplasia and stature within normal limits: another family with an Asn540-to-Ser mutation in the fibroblast growth factor receptor 3 gene. (12707965)
2003
27
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. (11754059)
2001
28
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. (11071087)
2000
29
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. (10482885)
1999
30
Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia. (9932857)
1999
31
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. (10405653)
1999
32
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. (9869286)
1998
33
Genotype phenotype correlation in achondroplasia and hypochondroplasia. (9853502)
1998
34
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. (9452043)
1998
35
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. (10215410)
1998
36
Comparison of clinical-radiological and molecular findings in hypochondroplasia. (9450868)
1998
37
Confirmatory linkage of hypochondroplasia to chromosome arm 4p. (7677163)
1995
38
Possible genetic heterogeneity in hypochondroplasia. (7666407)
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
The radiographic manifestations of hypochondroplasia. (421428)
1979
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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:

67
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:

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

About this section
Search GEO for disease gene expression data for Hypochondroplasia.

Pathways for genes affiliated with Hypochondroplasia

About this section

Pathways related to Hypochondroplasia according to GeneCards Suite gene sharing:

(show all 31)
idSuper pathwaysScoreTop Affiliating Genes
19.5FGFR1, FGFR3
29.5FGFR1, FGFR3
39.3FGFR1, FGFR2
4
Show member pathways
8.9FGFR1, FGFR2, FGFR3
5
Show member pathways
8.9FGFR1, FGFR2, FGFR3
6
Show member pathways
8.9FGFR1, FGFR2, FGFR3
78.9FGFR1, FGFR2, FGFR3
88.9FGFR1, FGFR2, FGFR3
98.9FGFR1, FGFR2, FGFR3
10
Show member pathways
8.9FGFR1, FGFR2, FGFR3
11
Show member pathways
8.9FGFR1, FGFR2, FGFR3
128.9FGFR1, FGFR2, FGFR3
13
Show member pathways
8.9FGFR1, FGFR2, FGFR3
14
Show member pathways
8.8FGF3, FGFR1, FGFR2
15
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
16
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
17
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
18
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
19
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
20
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
21
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
22
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
23
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
24
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
25
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
268.4FGF3, FGFR1, FGFR2, FGFR3
278.4FGF3, FGFR1, FGFR2, FGFR3
288.4FGF3, FGFR1, FGFR2, FGFR3
298.4FGF3, FGFR1, FGFR2, FGFR3
30
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3
31
Show member pathways
8.4FGF3, FGFR1, FGFR2, FGFR3

GO Terms for genes affiliated with Hypochondroplasia

About this section

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.0FGFR1, FGFR2
2lung-associated mesenchyme developmentGO:006048410.0FGFR1, FGFR2
3positive regulation of MAPK cascadeGO:00434109.9FGFR2, FGFR3
4positive regulation of cell divisionGO:00517819.9FGF3, FGFR2
5positive regulation of cell cycleGO:00457879.9FGFR1, FGFR2
6positive regulation of mesenchymal cell proliferationGO:00020539.9FGFR1, FGFR2
7positive regulation of cardiac muscle cell proliferationGO:00600459.9FGFR1, FGFR2
8positive regulation of ERK1 and ERK2 cascadeGO:00703749.8FGFR2, FGFR3
9skeletal system morphogenesisGO:00487059.8FGFR1, FGFR2
10bone morphogenesisGO:00603499.8FGFR2, FGFR3
11bone mineralizationGO:00302829.8FGFR2, FGFR3
12branching involved in salivary gland morphogenesisGO:00604459.8FGFR1, FGFR2
13positive regulation of phospholipase activityGO:00105189.6FGFR1, FGFR2, FGFR3
14regulation of multicellular organism growthGO:00400149.5FGFR2, NPPC
15protein autophosphorylationGO:00467779.4FGFR1, FGFR2, FGFR3
16lung developmentGO:00303249.3FGFR1, FGFR2
17orbitofrontal cortex developmentGO:00217699.3FGFR1, FGFR2
18Ras protein signal transductionGO:00072659.3FGFR1, FGFR2, FGFR3
19positive regulation of cell proliferationGO:00082849.2FGF3, FGFR1, FGFR3
20activation of MAPKK activityGO:00001869.1FGF3, FGFR1, FGFR2
21post-embryonic developmentGO:00097919.1FGFR2, NPPC
22axon guidanceGO:00074119.0FGFR1, FGFR2, FGFR3
23regulation of phosphatidylinositol 3-kinase signalingGO:00140669.0FGF3, FGFR1, FGFR2, FGFR3
24phosphatidylinositol-mediated signalingGO:00480159.0FGF3, FGFR1, FGFR2, FGFR3
25phosphatidylinositol-3-phosphate biosynthetic processGO:00360928.9FGF3, FGFR1, FGFR2, FGFR3
26epidermal growth factor receptor signaling pathwayGO:00071738.9FGF3, FGFR1, FGFR2, FGFR3
27fibroblast growth factor receptor signaling pathwayGO:00085438.9FGF3, FGFR1, FGFR2, FGFR3
28MAPK cascadeGO:00001658.8FGF3, FGFR1, FGFR2, FGFR3
29vascular endothelial growth factor receptor signaling pathwayGO:00480108.7FGF3, FGFR1, FGFR2, FGFR3
30insulin receptor signaling pathwayGO:00082868.7FGF3, FGFR1, FGFR2, FGFR3
31neurotrophin TRK receptor signaling pathwayGO:00480118.3FGF3, FGFR1, FGFR2, FGFR3
32innate immune responseGO:00450878.1FGF3, FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.9FGFR2, FGFR3
2protein tyrosine kinase activityGO:00047138.4FGF3, FGFR1, FGFR2, FGFR3

Sources for Hypochondroplasia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet