HCH
MCID: HYP042
MIFTS: 57

Hypochondroplasia (HCH) malady

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

Aliases & Classifications for Hypochondroplasia

Aliases & Descriptions for Hypochondroplasia:

Name: Hypochondroplasia 54 12 71 23 50 24 25 56 66 29 13 52 14
Hch 50 25 66
Hypochondrodysplasia 25

Characteristics:

Orphanet epidemiological data:

56
hypochondroplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

GeneReviews:

23
hypochondroplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Because of evidence that the height range in hypochondroplasia may overlap that of the normal population, individuals with hypochondroplasia may not be recognized as having a skeletal dysplasia unless an astute physician recognizes their disproportionate short stature. however, there have been no reports of individuals with an fgfr3 mutation without demonstrable radiographic changes compatible with hypochondroplasia or one of the other phenotypes known to be associated with mutations in this gene (see genetically related disorders)...

Classifications:



External Ids:

OMIM 54 146000
Disease Ontology 12 DOID:0080041
Orphanet 56 ORPHA429
ICD10 via Orphanet 34 Q77.4
UMLS via Orphanet 70 C0410529
MedGen 40 C0410529

Summaries for Hypochondroplasia

NIH Rare Diseases : 50 hypochondroplasia is a form of skeletal disease characterized by very short stature. hypochondroplasia is similar to achondroplasia, but the features tend to be milder. people with hypochondroplasia usually have very short stature, large head, accentuated lordosis, short arms and legs, and broad, short hands and feet. other features include a limited range of motion in the elbows, lordosis, and bowed legs. uncommon symptoms may include learning difficulties and convulsions. hypochondroplasia is caused by mutations in the fgfr3 gene and is inherited in an autosomal dominant fashion. treatment is symptomatic and may include surgery (laminectomy and decompression) to treat lumbar (low back) spinal stenosis (nerve compression caused by the the spine defects), physical therapy, and medication. trials of growth hormone treatment in hypochondroplasia have shown good results in a few cases. last updated: 3/17/2017

MalaCards based summary : Hypochondroplasia, also known as hch, is related to muenke syndrome and thanatophoric dysplasia, type i, and has symptoms including macrocephaly, osteoarthritis and intellectual disability. An important gene associated with Hypochondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Cytokine Signaling in Immune system. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone, temporal lobe and skin, and related phenotypes are Decreased human cytomegalovirus (HCMV) strain AD169 replication and craniofacial

Disease Ontology : 12 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 : 25 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 : 54 Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and... (146000) more...

UniProtKB/Swiss-Prot : 66 Hypochondroplasia: Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.

Wikipedia : 71 Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in... more...

GeneReviews: NBK1477

Related Diseases for Hypochondroplasia

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

(show top 50) (show all 56)
id Related Disease Score Top Affiliating Genes
1 muenke syndrome 29.6 FGFR2 FGFR3
2 thanatophoric dysplasia, type i 28.3 FGF3 FGFR1 FGFR2 FGFR3 NPPC SHOX
3 achondroplasia 11.3
4 autism susceptibility, x-linked 2 10.1 FGFR3 SHOX
5 short stature with nonspecific skeletal abnormalities 10.1 FGFR3 NPPC
6 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.1 FGFR2 FGFR3
7 dykes markes harper syndrome 10.1 FGFR3 SHOX
8 cervical spinal canal and spinal cord meningioma 10.1 FGFR2 FGFR3
9 aica-ribosiduria due to atic deficiency 10.1 FGFR2 FGFR3
10 acanthosis nigricans 10.1
11 lingual-facial-buccal dyskinesia 10.0 FGFR2 FGFR3
12 slti salem syndrome 10.0 FGFR3 NPPC
13 leg dermatosis 10.0 FGFR2 FGFR3
14 breast cancer 10.0
15 t cell immunodeficiency primary 10.0 FGFR1 FGFR3
16 autosomal genetic disease 10.0 FGFR2 FGFR3
17 pkp1-related ectodermal dysplasia/skin fragility syndrome 9.9 FGFR1 FGFR2
18 sp7-related osteogenesis imperfecta 9.9 FGFR2 FGFR3 SHOX
19 pitx3-related anterior segment mesenchymal dysgenesis 9.9 FGFR1 FGFR2
20 hypoparathyroidism 9.9 FGFR2 FGFR3
21 acrofacial dysostosis, palagonia type 9.9 FGFR1 FGFR2
22 ovarian epithelial cancer 9.9 FGFR1 FGFR3
23 skeletal dysplasias 9.9
24 skeletal dysplasia 9.9
25 epidemic typhus 9.9 FGFR1 FGFR2
26 early myoclonic encephalopathy 9.9 FGFR1 FGFR3
27 dwarfism 9.8
28 familial porphyria cutanea tarda 9.8 FGFR1 FGFR2 FGFR3
29 hartsfield syndrome 9.8 FGFR1 FGFR2 FGFR3
30 pointer syndrome 9.8 FGFR1 FGFR2 FGFR3
31 osteoglophonic dysplasia 9.8 FGFR1 FGFR2 FGFR3
32 scaphocephaly, maxillary retrusion, and mental retardation 9.8 FGFR1 FGFR2 FGFR3
33 apert syndrome 9.8 FGFR1 FGFR2 FGFR3
34 cervical cancer, somatic 9.8 FGFR1 FGFR2 FGFR3
35 robinow-sorauf syndrome 9.8 FGFR1 FGFR2 FGFR3
36 bone structure disease 9.8 FGFR1 FGFR2 FGFR3
37 atrophy of testis 9.8 FGFR1 FGFR2 FGFR3
38 hypogonadotropic hypogonadism 2 with or without anosmia 9.8 FGFR1 FGFR2 FGFR3
39 cutaneous leishmaniasis 9.8 FGFR1 FGFR2 FGFR3
40 hepatitis 9.7
41 motor neuron disease 9.7
42 hepatitis c 9.7
43 hepatitis c virus 9.7
44 neuronitis 9.7
45 taeniasis 9.7 FGF3 FGFR1 FGFR2
46 pancreatic cystadenoma 9.7 FGFR1 FGFR2
47 retinoblastoma 9.7
48 insulin-like growth factor i 9.7
49 leri-weill dyschondrosteosis 9.7
50 spinal stenosis 9.7

Graphical network of the top 20 diseases related to Hypochondroplasia:



Diseases related to Hypochondroplasia

Symptoms & Phenotypes for Hypochondroplasia

Symptoms by clinical synopsis from OMIM:

146000

Clinical features from OMIM:

146000

Human phenotypes related to Hypochondroplasia:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 Occasional (29-5%) HP:0000256
2 osteoarthritis 56 32 Occasional (29-5%) HP:0002758
3 intellectual disability 56 32 Occasional (29-5%) HP:0001249
4 scoliosis 56 32 Occasional (29-5%) HP:0002650
5 hyperlordosis 56 32 Occasional (29-5%) HP:0003307
6 sleep apnea 56 32 Occasional (29-5%) HP:0010535
7 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
8 abnormality of the metaphyses 56 32 Frequent (79-30%) HP:0000944
9 micromelia 56 32 Very frequent (99-80%) HP:0002983
10 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
11 abnormal form of the vertebral bodies 56 32 Very frequent (99-80%) HP:0003312
12 short toe 56 32 Very frequent (99-80%) HP:0001831
13 abnormality of the femur 56 32 Frequent (79-30%) HP:0002823
14 brachydactyly syndrome 56 32 Very frequent (99-80%) HP:0001156
15 genu varum 56 32 Frequent (79-30%) HP:0002970
16 spinal canal stenosis 56 32 Occasional (29-5%) HP:0003416
17 abnormality of pelvic girdle bone morphology 56 32 Frequent (79-30%) HP:0002644
18 abnormality of the elbow 56 32 Frequent (79-30%) HP:0009811
19 childhood onset short-limb short stature 56 32 Very frequent (99-80%) HP:0011405
20 malar flattening 32 HP:0000272
21 frontal bossing 32 HP:0002007
22 bowing of the long bones 56 Occasional (29-5%)
23 short long bone 32 HP:0003026
24 lumbar hyperlordosis 32 HP:0002938
25 flared metaphysis 32 HP:0003015
26 limited elbow extension 32 HP:0001377
27 aplasia/hypoplasia of the extremities 32 HP:0009815

GenomeRNAi Phenotypes related to Hypochondroplasia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.8 FGFR1 FGFR2 FGFR3

MGI Mouse Phenotypes related to Hypochondroplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.67 FGFR1 FGFR2 FGFR3 NPPC
2 limbs/digits/tail MP:0005371 9.65 FGF3 FGFR1 FGFR2 FGFR3 NPPC
3 hearing/vestibular/ear MP:0005377 9.62 FGFR2 FGFR3 FGF3 FGFR1
4 no phenotypic analysis MP:0003012 9.46 FGF3 FGFR1 FGFR2 FGFR3
5 reproductive system MP:0005389 9.35 FGF3 FGFR1 FGFR2 FGFR3 NPPC
6 skeleton MP:0005390 9.02 FGF3 FGFR1 FGFR2 FGFR3 NPPC

Drugs & Therapeutics for Hypochondroplasia

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 2
2 Hormones Phase 2
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
4 Natriuretic Agents
5 Natriuretic Peptide, C-Type

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy 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-trea Active, not recruiting NCT01111019 Phase 2
2 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
3 A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin Completed NCT01435629
4 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search NIH Clinical Center for Hypochondroplasia

Genetic Tests for Hypochondroplasia

Genetic tests related to Hypochondroplasia:

id Genetic test Affiliating Genes
1 Hypochondroplasia 29 24 FGFR3

Anatomical Context for Hypochondroplasia

MalaCards organs/tissues related to Hypochondroplasia:

39
Bone, Temporal Lobe, Skin, Bone Marrow

Publications for Hypochondroplasia

Articles related to Hypochondroplasia:

(show top 50) (show all 116)
id Title Authors Year
1
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )
2017
2
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3. ( 27507911 )
2016
3
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. ( 26814021 )
2016
4
Criteria for radiologic diagnosis of hypochondroplasia in neonates. ( 26867606 )
2016
5
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. ( 25809207 )
2015
6
Low bone mineral density in achondroplasia and hypochondroplasia. ( 26716907 )
2015
7
Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis. ( 26555758 )
2015
8
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. ( 25387261 )
2014
9
An association of hypochondroplasia and immune deficiency. ( 24756051 )
2014
10
Growth hormone treatment in patients with hypochondroplasia. ( 25531227 )
2014
11
Homozygous N540K hypochondroplasia--first report: radiological and clinical features. ( 24715719 )
2014
12
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? ( 25505998 )
2014
13
Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome? ( 24630288 )
2014
14
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. ( 24839128 )
2014
15
Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia. ( 25183602 )
2014
16
Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort. ( 25323764 )
2014
17
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. ( 23726269 )
2013
18
Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 23459260 )
2013
19
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review. ( 24411048 )
2013
20
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
21
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. ( 23165795 )
2012
22
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. ( 23045425 )
2012
23
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. ( 22137367 )
2012
24
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. ( 22302603 )
2012
25
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. ( 22888019 )
2012
26
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. ( 22903874 )
2012
27
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. ( 23149434 )
2012
28
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). ( 21873755 )
2011
29
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. ( 21225389 )
2011
30
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. ( 20226364 )
2010
31
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. ( 21510009 )
2010
32
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
33
[Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. ( 20890030 )
2010
34
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. ( 17895900 )
2008
35
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? ( 18583390 )
2008
36
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
37
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. ( 17256796 )
2007
38
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. ( 16912704 )
2006
39
Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between dyschondrosteosis, Turner syndrome, and hypochondroplasia. ( 16796318 )
2006
40
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. ( 16721528 )
2006
41
Prenatal diagnosis of hypochondroplasia: report of two cases. ( 16575888 )
2006
42
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. ( 16354969 )
2006
43
Disproportionate stature but normal height in hypochondroplasia. ( 15909185 )
2005
44
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. ( 16355813 )
2005
45
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. ( 16418051 )
2005
46
Medial temporal lobe dysgenesis in hypochondroplasia. ( 16222682 )
2005
47
Retinoblastoma and hypochondroplasia: a case report of two germline mutations arising simultaneously. ( 16020314 )
2005
48
Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. ( 15345118 )
2004
49
Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period. ( 14755409 )
2004
50
The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. ( 12733711 )
2003

Variations for Hypochondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:

66
id Symbol AA change Variation ID SNP ID
1 FGFR3 p.Ile538Val VAR_004157 rs80053154
2 FGFR3 p.Asn540Lys VAR_004158 rs28933068
3 FGFR3 p.Asn540Thr VAR_004159 rs77722678
4 FGFR3 p.Asn540Ser VAR_018389 rs77722678
5 FGFR3 p.Lys650Gln VAR_018390 rs78311289

ClinVar genetic disease variations for Hypochondroplasia:

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
2 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
3 FGFR3 NM_000142.4(FGFR3): c.1619A> C (p.Asn540Thr) single nucleotide variant Pathogenic rs77722678 GRCh37 Chromosome 4, 1807370: 1807370
4 FGFR3 NM_000142.4(FGFR3): c.1612A> G (p.Ile538Val) single nucleotide variant Pathogenic rs80053154 GRCh37 Chromosome 4, 1807363: 1807363
5 FGFR3 NM_000142.4(FGFR3): c.1950G> T (p.Lys650Asn) single nucleotide variant Pathogenic rs28928868 GRCh37 Chromosome 4, 1807891: 1807891
6 FGFR3 NM_000142.4(FGFR3): c.1950G> C (p.Lys650Asn) single nucleotide variant Pathogenic rs28928868 GRCh37 Chromosome 4, 1807891: 1807891
7 FGFR3 NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln) single nucleotide variant Pathogenic/Likely pathogenic rs78311289 GRCh37 Chromosome 4, 1807889: 1807889
8 FGFR3 NM_000142.4(FGFR3): c.1619A> G (p.Asn540Ser) single nucleotide variant Pathogenic rs77722678 GRCh37 Chromosome 4, 1807370: 1807370
9 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh37 Chromosome 4, 1803657: 1803657
10 FGFR3 NM_001163213.1(FGFR3): c.833A> G (p.Tyr278Cys) single nucleotide variant Pathogenic rs121913115 GRCh37 Chromosome 4, 1803655: 1803655
11 FGFR3 NM_000142.4(FGFR3): c.251C> T (p.Ser84Leu) single nucleotide variant Pathogenic rs121913116 GRCh37 Chromosome 4, 1801122: 1801122
12 FGFR3 NM_000142.4(FGFR3): c.344A> T (p.Gln115Leu) single nucleotide variant Pathogenic rs587778769 GRCh37 Chromosome 4, 1801215: 1801215
13 NP_000133.1: p.Gly65Arg undetermined variant Pathogenic
14 FGFR3 NM_000142.4(FGFR3): c.791C> T (p.Thr264Met) single nucleotide variant Pathogenic rs587778773 GRCh37 Chromosome 4, 1803613: 1803613
15 FGFR3 NM_000142.4(FGFR3): c.1024G> T (p.Gly342Cys) single nucleotide variant Pathogenic rs587778775 GRCh37 Chromosome 4, 1805512: 1805512
16 FGFR3 NM_000142.4(FGFR3): c.1142T> A (p.Val381Glu) single nucleotide variant Pathogenic rs587778776 GRCh37 Chromosome 4, 1806123: 1806123
17 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
18 FGFR3 NM_000142.4(FGFR3): c.597C> T (p.His199=) single nucleotide variant Pathogenic rs587778801 GRCh37 Chromosome 4, 1803245: 1803245
19 NM_000142.4: c.783A> C single nucleotide variant Pathogenic
20 FGFR3 NM_000142.4(FGFR3): c.801G> T (p.Leu267=) single nucleotide variant Pathogenic rs587778811 GRCh37 Chromosome 4, 1803623: 1803623
21 FGFR3 NM_000142.4(FGFR3): c.970C> G (p.Leu324Val) single nucleotide variant Pathogenic rs587778816 GRCh37 Chromosome 4, 1805458: 1805458
22 FGFR3 NM_000142.4(FGFR3): c.983A> T (p.Asn328Ile) single nucleotide variant Pathogenic rs587778817 GRCh37 Chromosome 4, 1805471: 1805471

Expression for Hypochondroplasia

Search GEO for disease gene expression data for Hypochondroplasia.

Pathways for Hypochondroplasia

Pathways related to Hypochondroplasia according to GeneCards Suite gene sharing:

(show all 32)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 FGF3 FGFR1 FGFR2 FGFR3
2
Show member pathways
13.06 FGF3 FGFR1 FGFR2 FGFR3
3
Show member pathways
12.84 FGF3 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.76 FGF3 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.61 FGF3 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.5 FGF3 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.49 FGF3 FGFR1 FGFR2 FGFR3
8 12.45 FGF3 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.43 FGFR1 FGFR2 FGFR3
10 12.41 FGF3 FGFR1 FGFR2 FGFR3
11 12.34 FGF3 FGFR1 FGFR2 FGFR3
12 12.29 FGF3 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.27 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.26 FGF3 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.21 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.08 FGF3 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.03 FGFR1 FGFR2 FGFR3
18
Show member pathways
12 FGF3 FGFR1 FGFR2 FGFR3
19
Show member pathways
11.98 FGFR1 FGFR2 FGFR3
20
Show member pathways
11.96 FGF3 FGFR1 FGFR2 FGFR3
21 11.91 FGFR1 FGFR2 FGFR3
22 11.89 FGFR1 FGFR2 FGFR3
23 11.72 FGFR1 FGFR2 FGFR3
24 11.61 FGFR1 FGFR2 FGFR3
25 11.55 FGFR1 FGFR3
26
Show member pathways
11.54 FGF3 FGFR1 FGFR2 FGFR3
27 11.49 FGFR1 FGFR2 FGFR3
28 11.46 FGFR1 FGFR3
29 11.39 FGFR1 FGFR2 FGFR3
30 11.3 FGFR1 FGFR2
31
Show member pathways
11.12 FGF3 FGFR1 FGFR2 FGFR3
32 10.99 FGFR1 FGFR2 FGFR3

GO Terms for Hypochondroplasia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.02 FGF3 FGFR1 FGFR2 FGFR3 NPPC

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

(show all 34)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.88 FGF3 FGFR1 FGFR2 FGFR3
2 positive regulation of cell proliferation GO:0008284 9.86 FGF3 FGFR1 FGFR2 FGFR3
3 cell-cell signaling GO:0007267 9.81 FGF3 FGFR2 FGFR3
4 MAPK cascade GO:0000165 9.78 FGF3 FGFR1 FGFR2 FGFR3
5 protein autophosphorylation GO:0046777 9.77 FGFR1 FGFR2 FGFR3
6 skeletal system development GO:0001501 9.75 FGFR1 FGFR3 SHOX
7 peptidyl-tyrosine phosphorylation GO:0018108 9.71 FGF3 FGFR1 FGFR2 FGFR3
8 positive regulation of MAPK cascade GO:0043410 9.69 FGFR1 FGFR2 FGFR3
9 phosphatidylinositol-mediated signaling GO:0048015 9.67 FGF3 FGFR1 FGFR2 FGFR3
10 post-embryonic development GO:0009791 9.66 FGFR2 NPPC
11 inner ear morphogenesis GO:0042472 9.66 FGFR1 FGFR2
12 positive regulation of cell division GO:0051781 9.65 FGF3 FGFR2
13 ureteric bud development GO:0001657 9.65 FGFR1 FGFR2
14 skeletal system morphogenesis GO:0048705 9.65 FGFR1 FGFR2
15 chondrocyte differentiation GO:0002062 9.64 FGFR1 FGFR3
16 positive regulation of cell cycle GO:0045787 9.64 FGFR1 FGFR2
17 midbrain development GO:0030901 9.63 FGFR1 FGFR2
18 bone mineralization GO:0030282 9.62 FGFR2 FGFR3
19 bone morphogenesis GO:0060349 9.62 FGFR2 FGFR3
20 phosphatidylinositol phosphorylation GO:0046854 9.62 FGF3 FGFR1 FGFR2 FGFR3
21 regulation of multicellular organism growth GO:0040014 9.61 FGFR2 NPPC
22 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 FGFR1 FGFR2
23 positive regulation of cardiac muscle cell proliferation GO:0060045 9.6 FGFR1 FGFR2
24 branching involved in salivary gland morphogenesis GO:0060445 9.57 FGFR1 FGFR2
25 fibroblast growth factor receptor signaling pathway GO:0008543 9.56 FGF3 FGFR1 FGFR2 FGFR3
26 lung-associated mesenchyme development GO:0060484 9.55 FGFR1 FGFR2
27 mesenchymal cell differentiation GO:0048762 9.54 FGFR1 FGFR2
28 endochondral bone growth GO:0003416 9.52 FGFR2 FGFR3
29 orbitofrontal cortex development GO:0021769 9.49 FGFR1 FGFR2
30 ventricular zone neuroblast division GO:0021847 9.46 FGFR1 FGFR2
31 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.46 FGF3 FGFR1 FGFR2 FGFR3
32 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.43 FGFR1 FGFR2
33 positive regulation of phospholipase activity GO:0010518 9.13 FGFR1 FGFR2 FGFR3
34 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.92 FGF3 FGFR1 FGFR2 FGFR3

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

id Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.67 FGF3 FGFR1 FGFR2 FGFR3
2 protein kinase activity GO:0004672 9.63 FGFR1 FGFR2 FGFR3
3 nucleotide binding GO:0000166 9.61 FGFR1 FGFR2 FGFR3
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 FGFR1 FGFR2 FGFR3
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.56 FGF3 FGFR1 FGFR2 FGFR3
6 fibroblast growth factor binding GO:0017134 9.5 FGFR1 FGFR2 FGFR3
7 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.46 FGF3 FGFR1 FGFR2 FGFR3
8 fibroblast growth factor-activated receptor activity GO:0005007 9.13 FGFR1 FGFR2 FGFR3
9 1-phosphatidylinositol-3-kinase activity GO:0016303 8.92 FGF3 FGFR1 FGFR2 FGFR3

Sources for Hypochondroplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....