HCH
MCID: HYP042
MIFTS: 60

Hypochondroplasia (HCH)

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

Aliases & Classifications for Hypochondroplasia

MalaCards integrated aliases for Hypochondroplasia:

Name: Hypochondroplasia 57 12 76 24 53 25 59 75 37 29 13 55 6 44 15 40
Hch 57 53 25 75
Hypochondrodysplasia 25

Characteristics:

Orphanet epidemiological data:

59
hypochondroplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity, some patients not linked to fgfr3


HPO:

32
hypochondroplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 pathogenic variant without demonstrable radiographic changes compatible with hypochondroplasia or one of the other phenotypes known to be associated with pathogenic variants in this gene (see genetically related disorders)...

Classifications:



External Ids:

OMIM 57 146000
Disease Ontology 12 DOID:0080041
ICD10 33 Q77.4
MeSH 44 C562937
Orphanet 59 ORPHA429
ICD10 via Orphanet 34 Q77.4
UMLS via Orphanet 74 C0410529
MedGen 42 C0410529
KEGG 37 H02068
UMLS 73 C0410529

Summaries for Hypochondroplasia

NIH Rare Diseases : 53 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.

MalaCards based summary : Hypochondroplasia, also known as hch, is related to achondroplasia and acanthosis nigricans. An important gene associated with Hypochondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are MAPK signaling pathway and Ras signaling pathway. The drugs Hormones, Hormone Substitutes, and Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and temporal lobe, and related phenotypes are macrocephaly and osteoarthritis

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 : 57 Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. It shows some resemblance to achondroplasia, but is much milder and can be distinguished on clinical and radiographic grounds (Walker et al., 1971). (146000)

UniProtKB/Swiss-Prot : 75 Hypochondroplasia: Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.

Wikipedia : 76 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 62)
# Related Disease Score Top Affiliating Genes
1 achondroplasia 31.2 SHOX NPPC FGFR3 FGFR2 FGFR1 FGF3
2 acanthosis nigricans 30.4 FGFR3 FGFR2
3 thanatophoric dysplasia, type i 30.3 FGFR3 FGFR2 FGFR1
4 dwarfism 30.2 GHR FGFR3
5 skeletal dysplasias 29.8 NPPC FGFR3
6 leri-weill dyschondrosteosis 29.8 SHOX GHR FGFR3
7 turner syndrome 29.7 SHOX GHR
8 muenke syndrome 29.6 FGFR3 FGFR2 FGFR1
9 craniosynostosis 29.6 FGFR3 FGFR2 FGFR1
10 malaria 10.5
11 aging 10.1
12 hemifacial hyperplasia 10.1 FGFR3 FGFR2
13 luteoma 10.1 FGFR3 FGFR2
14 beare-stevenson cutis gyrata syndrome 10.1 FGFR3 FGFR2
15 hypertropia 10.1 FGFR3 FGFR2
16 exophthalmos 10.0 FGFR3 FGFR2
17 synovial chondromatosis 10.0 FGFR3 FGFR1
18 osteochondroma 10.0 FGFR3 FGFR1
19 chromosome 2q35 duplication syndrome 10.0 FGFR3 FGFR2
20 giant cell glioblastoma 10.0 FGFR3 FGFR1
21 fibrolamellar carcinoma 10.0 FGFR2 FGFR1
22 antley-bixler syndrome 10.0 FGFR2 FGFR1
23 hepatitis c virus 9.9
24 myoclonic-atonic epilepsy 9.9
25 hepatitis 9.9
26 motor neuron disease 9.9
27 gestational diabetes 9.9
28 chagas disease 9.9
29 hepatitis c 9.9
30 dental caries 9.9
31 periodontitis 9.9
32 viral infectious disease 9.9
33 acromesomelic dysplasia 9.9 NPPC GHR
34 cleft palate, isolated 9.9
35 kleeblattschaedel 9.9
36 retinoblastoma 9.9
37 down syndrome 9.9
38 insulin-like growth factor i 9.9
39 hypophosphatemic rickets, x-linked recessive 9.9
40 bone mineral density quantitative trait locus 3 9.9
41 spinal stenosis 9.9
42 bone disease 9.9
43 rickets 9.9
44 hypophosphatasia 9.9
45 epilepsy 9.9
46 focal epilepsy 9.9
47 plagiocephaly 9.9 FGFR3 FGFR2 FGFR1
48 osteoglophonic dysplasia 9.9 FGFR3 FGFR2 FGFR1
49 jackson-weiss syndrome 9.9 FGFR3 FGFR2 FGFR1
50 radioulnar synostosis 9.9 FGFR3 FGFR2 FGFR1

Graphical network of the top 20 diseases related to Hypochondroplasia:



Diseases related to Hypochondroplasia

Symptoms & Phenotypes for Hypochondroplasia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
mild frontal bossing

Skeletal Limbs:
genu varum
shortened limbs
short tubular bones with mild metaphyseal flare
limited extension at elbows
bowleg

Growth Height:
short-limb dwarfism identifiable during childhood
final height, 125 to 160 cm

Skeletal Spine:
variable lumbar lordosis
progressive narrowing of interpediculate distance in the lumbar vertebrate

Skin Nails Hair Skin:
acanthosis nigricans (rare)

Skeletal Hands:
brachydactyly
lack of trident hand helps distinguish it from achondroplasia

Neurologic Central Nervous System:
occasional mental retardation

Head And Neck Face:
normal/mild midface hypoplasia

Skeletal Pelvis:
short, squared ilia


Clinical features from OMIM:

146000

Human phenotypes related to Hypochondroplasia:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 osteoarthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002758
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
5 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
6 sleep apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0010535
7 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
8 abnormality of the metaphysis 59 32 frequent (33%) Frequent (79-30%) HP:0000944
9 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
10 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
11 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
12 short toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001831
13 abnormality of femur morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002823
14 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
15 genu varum 59 32 frequent (33%) Frequent (79-30%) HP:0002970
16 spinal canal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003416
17 abnormality of pelvic girdle bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002644
18 abnormality of the elbow 59 32 frequent (33%) Frequent (79-30%) HP:0009811
19 childhood onset short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0011405
20 malar flattening 32 HP:0000272
21 frontal bossing 32 HP:0002007
22 bowing of the long bones 59 Occasional (29-5%)
23 acanthosis nigricans 32 occasional (7.5%) HP:0000956
24 short long bone 32 HP:0003026
25 lumbar hyperlordosis 32 HP:0002938
26 limited elbow extension 32 HP:0001377
27 flared metaphysis 32 HP:0003015
28 aplasia/hypoplasia of the extremities 32 HP:0009815

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.88 FGF3 FGFR1 FGFR2 FGFR3 GHR NPPC
2 limbs/digits/tail MP:0005371 9.8 FGF3 FGFR1 FGFR2 FGFR3 GHR NPPC
3 craniofacial MP:0005382 9.73 FGFR1 FGFR2 FGFR3 NPPC
4 nervous system MP:0003631 9.73 FGF3 FGFR1 FGFR2 FGFR3 GHR NPPC
5 hearing/vestibular/ear MP:0005377 9.67 FGF3 FGFR1 FGFR2 FGFR3
6 no phenotypic analysis MP:0003012 9.46 FGF3 FGFR1 FGFR2 FGFR3
7 reproductive system MP:0005389 9.43 FGF3 FGFR1 FGFR2 FGFR3 GHR NPPC
8 skeleton MP:0005390 9.1 FGF3 FGFR1 FGFR2 FGFR3 GHR NPPC

Drugs & Therapeutics for Hypochondroplasia

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


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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-treated Children Completed NCT01111019 Phase 2 Recombinant human growth hormone (Somatropin)
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 somatropin
4 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search NIH Clinical Center for Hypochondroplasia

Cochrane evidence based reviews: hypochondroplasia

Genetic Tests for Hypochondroplasia

Genetic tests related to Hypochondroplasia:

# Genetic test Affiliating Genes
1 Hypochondroplasia 29 FGFR3

Anatomical Context for Hypochondroplasia

MalaCards organs/tissues related to Hypochondroplasia:

41
Bone, Skin, Temporal Lobe, Liver, Bone Marrow, Occipital Lobe, Lung

Publications for Hypochondroplasia

Articles related to Hypochondroplasia:

(show top 50) (show all 393)
# Title Authors Year
1
Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family. ( 29150894 )
2018
2
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia. ( 29736252 )
2018
3
Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia. ( 29080836 )
2018
4
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival. ( 29681095 )
2018
5
FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation. ( 30335613 )
2018
6
Streptomyces sp. is a powerful biotechnological tool for the biodegradation of HCH isomers: biochemical and molecular basis. ( 29124958 )
2018
7
Dietary exposure to HCH and DDT congeners and their associated cancer risk based on Pakistani food consumption. ( 29307071 )
2018
8
Abatement of chlorinated compounds in groundwater contaminated by HCH wastes using ISCO with alkali activated persulfate. ( 29751410 )
2018
9
HCH air levels derived from Bailín dumpsite dismantling (Sabiñánigo, Spain). ( 29898543 )
2018
10
HCH phytoremediation potential of native plant species from a contaminated urban site in Turda, Romania. ( 29933144 )
2018
11
Ecological Risk Assessment of HCH and DDT Residues in a Sediment Core from the Küçükçekmece Lagoon, Turkey. ( 30027447 )
2018
12
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )
2017
13
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia. ( 29190002 )
2017
14
Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in<i>FGFR3</i>. ( 29026271 )
2017
15
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. ( 28763161 )
2017
16
Occurrence, enantiomeric signature and ecotoxicological risk assessment of HCH isomers and DDT metabolites in the sediments of Kabul River, Pakistan. ( 27356508 )
2017
17
Assessment of DDT, HCH and PAH contamination and associated ecotoxicological risks in surface sediments of coastal Tema Harbour (Ghana). ( 27916245 )
2017
18
Pontibacter aurantiacus sp. nov. isolated from hexachlorocyclohexane (HCH) contaminated soil. ( 28141483 )
2017
19
Application of chemical oxidation to remediate HCH-contaminated soil under batch and flow through conditions. ( 28470496 )
2017
20
Compound Specific and Enantioselective Stable Isotope Analysis as Tools To Monitor Transformation of Hexachlorocyclohexane (HCH) in a Complex Aquifer System. ( 28673086 )
2017
21
Genome Organization of Sphingobium indicum B90A: An Archetypal Hexachlorocyclohexane (HCH) Degrading Genotype. ( 28922869 )
2017
22
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. ( 26814021 )
2016
23
Criteria for radiologic diagnosis of hypochondroplasia in neonates. ( 26867606 )
2016
24
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3. ( 27507911 )
2016
25
Improving of understanding of beta-hexachlorocyclohexane (HCH) adsorption on activated carbons by temperature-programmed desorption studies. ( 26018287 )
2016
26
Tissue distribution of HCH and DDT congeners and human health risk associated with consumption of fish collected from Kabul River, Pakistan. ( 26685785 )
2016
27
Biodegradability of HCH in agricultural soils from Guadeloupe (French West Indies): identification of the lin genes involved in the HCH degradation pathway. ( 26686518 )
2016
28
Simulation of the transfer and fate of γ-HCH in epikarst system. ( 26807947 )
2016
29
Proteomics of Sphingobium indicum B90A for a deeper understanding of hexachlorocyclohexane (HCH) bioremediation. ( 26953700 )
2016
30
Evidence of α-, β- and γ-HCH mixture aerobic degradation by the native actinobacteria Streptomyces sp. M7. ( 27038951 )
2016
31
Laboratory and field scale bioremediation of hexachlorocyclohexane (HCH) contaminated soils by means of bioaugmentation and biostimulation. ( 27142265 )
2016
32
Establishment and characterization of a cell line (HCH-1) originating from a human clear cell carcinoma of the ovary. ( 27259990 )
2016
33
POPs in the South Latin America: Bioaccumulation of DDT, PCB, HCB, HCH and Mirex in blubber of common dolphin (Delphinus delphis) and Fraser's dolphin (Lagenodelphis hosei) from Argentina. ( 27509073 )
2016
34
Supramolecular anion recognition by β-HCH. ( 27722565 )
2016
35
Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis. ( 26555758 )
2015
36
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. ( 25809207 )
2015
37
Low bone mineral density in achondroplasia and hypochondroplasia. ( 26716907 )
2015
38
Stereochemistry of enzymatic transformations of (+)β- and (-)β-HBCD with LinA2--a HCH-degrading bacterial enzyme of Sphingobium indicum B90A. ( 25434265 )
2015
39
Differential uptake and translocation of β-HCH and dieldrin by several plant species from hydroponic medium. ( 25470472 )
2015
40
The 12th International HCH and Pesticides Forum in Kiev/Ukraine. ( 25501859 )
2015
41
Evaluating degradation of hexachlorcyclohexane (HCH) isomers within a contaminated aquifer using compound-specific stable carbon isotope analysis (CSIA). ( 25617603 )
2015
42
Presence of Epsilon HCH Together with Four Other HCH Isomers in Drinking Water, Groundwater and Soil in a Former Lindane Production Site. ( 25754859 )
2015
43
The absolute configuration of salicortin, HCH-salicortin and tremulacin from Populus trichocarpa × deltoides Beaupré. ( 25830788 )
2015
44
Hexachlorocyclohexane (HCH) in human blood in the south of the Russian Far East. ( 26187201 )
2015
45
Sphingopyxis flava sp. nov., isolated from a hexachlorocyclohexane (HCH)-contaminated soil. ( 26219279 )
2015
46
Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome? ( 24630288 )
2014
47
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. ( 25387261 )
2014
48
Growth hormone treatment in patients with hypochondroplasia. ( 25531227 )
2014
49
Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia. ( 25183602 )
2014
50
An association of hypochondroplasia and immune deficiency. ( 24756051 )
2014

Variations for Hypochondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:

75
# 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 48)
# 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_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
3 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
4 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
5 FGFR3 NM_000142.4(FGFR3): c.1619A> C (p.Asn540Thr) single nucleotide variant Pathogenic rs77722678 GRCh37 Chromosome 4, 1807370: 1807370
6 FGFR3 NM_000142.4(FGFR3): c.1619A> C (p.Asn540Thr) single nucleotide variant Pathogenic rs77722678 GRCh38 Chromosome 4, 1805643: 1805643
7 FGFR3 NM_000142.4(FGFR3): c.1612A> G (p.Ile538Val) single nucleotide variant Pathogenic rs80053154 GRCh37 Chromosome 4, 1807363: 1807363
8 FGFR3 NM_000142.4(FGFR3): c.1612A> G (p.Ile538Val) single nucleotide variant Pathogenic rs80053154 GRCh38 Chromosome 4, 1805636: 1805636
9 FGFR3 NM_000142.4(FGFR3): c.1950G> T (p.Lys650Asn) single nucleotide variant Pathogenic rs28928868 GRCh37 Chromosome 4, 1807891: 1807891
10 FGFR3 NM_000142.4(FGFR3): c.1950G> T (p.Lys650Asn) single nucleotide variant Pathogenic rs28928868 GRCh38 Chromosome 4, 1806164: 1806164
11 FGFR3 NM_000142.4(FGFR3): c.1950G> C (p.Lys650Asn) single nucleotide variant Pathogenic rs28928868 GRCh37 Chromosome 4, 1807891: 1807891
12 FGFR3 NM_000142.4(FGFR3): c.1950G> C (p.Lys650Asn) single nucleotide variant Pathogenic rs28928868 GRCh38 Chromosome 4, 1806164: 1806164
13 FGFR3 NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln) single nucleotide variant Pathogenic rs78311289 GRCh37 Chromosome 4, 1807889: 1807889
14 FGFR3 NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln) single nucleotide variant Pathogenic rs78311289 GRCh38 Chromosome 4, 1806162: 1806162
15 FGFR3 NM_000142.4(FGFR3): c.1619A> G (p.Asn540Ser) single nucleotide variant Uncertain significance rs77722678 GRCh37 Chromosome 4, 1807370: 1807370
16 FGFR3 NM_000142.4(FGFR3): c.1619A> G (p.Asn540Ser) single nucleotide variant Uncertain significance rs77722678 GRCh38 Chromosome 4, 1805643: 1805643
17 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh37 Chromosome 4, 1803657: 1803657
18 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh38 Chromosome 4, 1801930: 1801930
19 FGFR3 NM_001163213.1(FGFR3): c.833A> G (p.Tyr278Cys) single nucleotide variant Pathogenic rs121913115 GRCh37 Chromosome 4, 1803655: 1803655
20 FGFR3 NM_001163213.1(FGFR3): c.833A> G (p.Tyr278Cys) single nucleotide variant Pathogenic rs121913115 GRCh38 Chromosome 4, 1801928: 1801928
21 FGFR3 NM_000142.4(FGFR3): c.251C> T (p.Ser84Leu) single nucleotide variant Pathogenic rs121913116 GRCh37 Chromosome 4, 1801122: 1801122
22 FGFR3 NM_000142.4(FGFR3): c.251C> T (p.Ser84Leu) single nucleotide variant Pathogenic rs121913116 GRCh38 Chromosome 4, 1799395: 1799395
23 FGFR3 NM_000142.4(FGFR3): c.344A> T (p.Gln115Leu) single nucleotide variant Pathogenic rs587778769 GRCh37 Chromosome 4, 1801215: 1801215
24 FGFR3 NM_000142.4(FGFR3): c.344A> T (p.Gln115Leu) single nucleotide variant Pathogenic rs587778769 GRCh38 Chromosome 4, 1799488: 1799488
25 Pathogenic NP_000133.1: p.Gly65Arg undetermined variant 0 rsRCV000055716 65527
26 Pathogenic NG_011801.1: g.73667+?_86672del deletion 0 rsRCV000055717 65528
27 FGFR3 NM_000142.4(FGFR3): c.791C> T (p.Thr264Met) single nucleotide variant Pathogenic rs587778773 GRCh37 Chromosome 4, 1803613: 1803613
28 FGFR3 NM_000142.4(FGFR3): c.791C> T (p.Thr264Met) single nucleotide variant Pathogenic rs587778773 GRCh38 Chromosome 4, 1801886: 1801886
29 FGFR3 NM_000142.4(FGFR3): c.1024G> T (p.Gly342Cys) single nucleotide variant Pathogenic rs587778775 GRCh37 Chromosome 4, 1805512: 1805512
30 FGFR3 NM_000142.4(FGFR3): c.1024G> T (p.Gly342Cys) single nucleotide variant Pathogenic rs587778775 GRCh38 Chromosome 4, 1803785: 1803785
31 FGFR3 NM_000142.4(FGFR3): c.1142T> A (p.Val381Glu) single nucleotide variant Pathogenic rs587778776 GRCh37 Chromosome 4, 1806123: 1806123
32 FGFR3 NM_000142.4(FGFR3): c.1142T> A (p.Val381Glu) single nucleotide variant Pathogenic rs587778776 GRCh38 Chromosome 4, 1804396: 1804396
33 Pathogenic NM_000784.3: c.1146_1151delins insertion 0 rsRCV000056070 65830
34 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
35 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh38 Chromosome 4, 1806163: 1806163
36 FGFR3 NM_000142.4(FGFR3): c.597C> T (p.His199=) single nucleotide variant Pathogenic rs587778801 GRCh37 Chromosome 4, 1803245: 1803245
37 FGFR3 NM_000142.4(FGFR3): c.597C> T (p.His199=) single nucleotide variant Pathogenic rs587778801 GRCh38 Chromosome 4, 1801518: 1801518
38 Pathogenic NM_000784.3: c.599C> T single nucleotide variant 0 rsRCV000056126 65881
39 FGFR3 NM_000142.4(FGFR3): c.801G> T (p.Leu267=) single nucleotide variant Pathogenic rs587778811 GRCh37 Chromosome 4, 1803623: 1803623
40 FGFR3 NM_000142.4(FGFR3): c.801G> T (p.Leu267=) single nucleotide variant Pathogenic rs587778811 GRCh38 Chromosome 4, 1801896: 1801896
41 FGFR3 NM_000142.4(FGFR3): c.970C> G (p.Leu324Val) single nucleotide variant Pathogenic rs587778816 GRCh37 Chromosome 4, 1805458: 1805458
42 FGFR3 NM_000142.4(FGFR3): c.970C> G (p.Leu324Val) single nucleotide variant Pathogenic rs587778816 GRCh38 Chromosome 4, 1803731: 1803731
43 FGFR3 NM_000142.4(FGFR3): c.983A> T (p.Asn328Ile) single nucleotide variant Pathogenic rs587778817 GRCh37 Chromosome 4, 1805471: 1805471
44 FGFR3 NM_000142.4(FGFR3): c.983A> T (p.Asn328Ile) single nucleotide variant Pathogenic rs587778817 GRCh38 Chromosome 4, 1803744: 1803744
45 Pathogenic c.[708G> C]+[784C> T] undetermined variant 0 rsRCV000056164 65918
46 Pathogenic c.[c.38dupA]+[1571G> A] duplication 0 rsRCV000056165 65919
47 FGFR3 NM_000142.4(FGFR3): c.1331C> T (p.Ser444Phe) single nucleotide variant not provided rs761325047 GRCh37 Chromosome 4, 1806615: 1806615
48 FGFR3 NM_000142.4(FGFR3): c.1331C> T (p.Ser444Phe) single nucleotide variant not provided rs761325047 GRCh38 Chromosome 4, 1804888: 1804888

Expression for Hypochondroplasia

Search GEO for disease gene expression data for Hypochondroplasia.

Pathways for Hypochondroplasia

Pathways related to Hypochondroplasia according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Ras signaling pathway hsa04014
3 Rap1 signaling pathway hsa04015
4 PI3K-Akt signaling pathway hsa04151
5 Regulation of actin cytoskeleton hsa04810

Pathways related to Hypochondroplasia according to GeneCards Suite gene sharing:

(show all 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 FGF3 FGFR1 FGFR2 FGFR3 GHR
2
Show member pathways
13.11 FGF3 FGFR1 FGFR2 FGFR3 GHR
3
Show member pathways
12.88 FGF3 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.65 FGF3 FGFR1 FGFR2 FGFR3
5 12.62 FGF3 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.61 FGF3 FGFR1 FGFR2 FGFR3 GHR
7
Show member pathways
12.56 FGF3 FGFR1 FGFR2 FGFR3
8 12.54 FGF3 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.52 FGF3 FGFR1 FGFR2
10
Show member pathways
12.51 FGF3 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.5 FGF3 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.47 FGFR1 FGFR2 FGFR3
13 12.39 FGF3 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.34 FGF3 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.29 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.24 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.17 FGF3 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.15 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.11 FGF3 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.1 FGF3 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.05 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.05 FGFR1 FGFR2 FGFR3
23
Show member pathways
12 FGFR1 FGFR2 FGFR3
24 11.96 FGFR1 FGFR2 FGFR3
25 11.96 FGFR1 FGFR2 FGFR3
26 11.91 FGFR1 FGFR2 FGFR3
27
Show member pathways
11.86 FGFR1 FGFR2 FGFR3
28
Show member pathways
11.85 FGF3 FGFR1 FGFR2 FGFR3
29 11.73 FGFR1 FGFR2 FGFR3
30 11.66 FGFR1 FGFR2 FGFR3
31
Show member pathways
11.66 FGF3 FGFR1 FGFR2 FGFR3
32 11.58 FGFR1 FGFR3
33 11.52 FGFR1 FGFR2 FGFR3
34 11.48 FGFR1 FGFR2 FGFR3
35 11.47 FGFR1 FGFR3 GHR
36 11.33 FGFR1 FGFR2
37 11.2 FGFR1 FGFR2 FGFR3
38 11.15 FGFR1 FGFR2 FGFR3
39 10.55 FGF3 FGFR1 FGFR2 FGFR3
40 10.4 FGF3 FGFR1 FGFR2 FGFR3

GO Terms for Hypochondroplasia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 FGF3 FGFR1 FGFR2 FGFR3 GHR NPPC
2 receptor complex GO:0043235 8.92 FGFR1 FGFR2 FGFR3 GHR

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.95 FGF3 FGFR1 FGFR2 FGFR3
2 positive regulation of cell proliferation GO:0008284 9.88 FGF3 FGFR1 FGFR2 FGFR3
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.79 FGFR1 FGFR2 FGFR3
4 cell-cell signaling GO:0007267 9.78 FGF3 FGFR2 FGFR3
5 protein autophosphorylation GO:0046777 9.77 FGFR1 FGFR2 FGFR3
6 MAPK cascade GO:0000165 9.76 FGF3 FGFR1 FGFR2 FGFR3
7 skeletal system development GO:0001501 9.75 FGFR1 FGFR3 SHOX
8 positive regulation of MAPK cascade GO:0043410 9.74 FGFR1 FGFR2 FGFR3
9 negative regulation of signal transduction GO:0009968 9.72 FGFR1 FGFR2 FGFR3
10 peptidyl-tyrosine phosphorylation GO:0018108 9.71 FGF3 FGFR1 FGFR2 FGFR3
11 post-embryonic development GO:0009791 9.67 FGFR2 NPPC
12 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.67 FGFR3 GHR
13 positive regulation of protein kinase B signaling GO:0051897 9.67 FGF3 FGFR1 FGFR2 FGFR3
14 inner ear morphogenesis GO:0042472 9.66 FGFR1 FGFR2
15 positive regulation of cell cycle GO:0045787 9.66 FGFR1 FGFR2
16 positive regulation of cell division GO:0051781 9.65 FGF3 FGFR2
17 skeletal system morphogenesis GO:0048705 9.65 FGFR1 FGFR2
18 ureteric bud development GO:0001657 9.64 FGFR1 FGFR2
19 bone mineralization GO:0030282 9.64 FGFR2 FGFR3
20 chondrocyte differentiation GO:0002062 9.63 FGFR1 FGFR3
21 positive regulation of cardiac muscle cell proliferation GO:0060045 9.63 FGFR1 FGFR2
22 midbrain development GO:0030901 9.62 FGFR1 FGFR2
23 bone morphogenesis GO:0060349 9.62 FGFR2 FGFR3
24 positive regulation of mesenchymal cell proliferation GO:0002053 9.6 FGFR1 FGFR2
25 branching involved in salivary gland morphogenesis GO:0060445 9.56 FGFR1 FGFR2
26 phosphatidylinositol phosphorylation GO:0046854 9.56 FGF3 FGFR1 FGFR2 FGFR3
27 mesenchymal cell differentiation GO:0048762 9.54 FGFR1 FGFR2
28 lung-associated mesenchyme development GO:0060484 9.52 FGFR1 FGFR2
29 endochondral bone growth GO:0003416 9.51 FGFR2 FGFR3
30 regulation of multicellular organism growth GO:0040014 9.5 FGFR2 GHR NPPC
31 orbitofrontal cortex development GO:0021769 9.49 FGFR1 FGFR2
32 ventricular zone neuroblast division GO:0021847 9.48 FGFR1 FGFR2
33 fibroblast growth factor receptor signaling pathway GO:0008543 9.46 FGF3 FGFR1 FGFR2 FGFR3
34 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.43 FGFR1 FGFR2
35 positive regulation of phospholipase activity GO:0010518 9.13 FGFR1 FGFR2 FGFR3
36 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.92 FGF3 FGFR1 FGFR2 FGFR3

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.67 FGF3 FGFR1 FGFR2 FGFR3
2 nucleotide binding GO:0000166 9.63 FGFR1 FGFR2 FGFR3
3 transmembrane signaling receptor activity GO:0004888 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 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF3 FGFR1 FGFR2 FGFR3
9 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Hypochondroplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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