MCID: HYP042
MIFTS: 57

Hypochondroplasia

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

Aliases & Classifications for Hypochondroplasia

MalaCards integrated aliases for Hypochondroplasia:

Name: Hypochondroplasia 53 12 72 72 23 49 24 55 71 28 13 51 14
Hch 53 49 24 71
Hypochondrodysplasia 24

Characteristics:

Orphanet epidemiological data:

55
hypochondroplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity, some patients not linked to fgfr3


HPO:

31
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 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 53 146000
Disease Ontology 12 DOID:0080041
Orphanet 55 ORPHA429
UMLS via Orphanet 70 C0410529
ICD10 via Orphanet 33 Q77.4
MedGen 39 C0410529

Summaries for Hypochondroplasia

NIH Rare Diseases : 49 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: 1/11/2018

MalaCards based summary : Hypochondroplasia, also known as hch, is related to thanatophoric dysplasia, type i and acanthosis nigricans, 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 TGF-Beta Pathway 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 growth/size/body region

OMIM : 53 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 : 71 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.

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.

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 51)
# Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type i 30.4 FGFR2 FGFR3
2 acanthosis nigricans 30.4 FGFR2 FGFR3
3 leri-weill dyschondrosteosis 30.0 FGFR3 SHOX
4 dwarfism 29.9 FGFR3 GHR
5 achondroplasia 29.9 FGF3 FGFR1 FGFR2 FGFR3 NPPC SHOX
6 skeletal dysplasias 29.7 FGFR3 NPPC
7 turner syndrome 29.4 GHR SHOX
8 muenke syndrome 29.2 FGFR1 FGFR2 FGFR3
9 craniosynostosis 29.2 FGFR1 FGFR2 FGFR3
10 luteoma 10.2 FGFR2 FGFR3
11 beare-stevenson cutis gyrata syndrome 10.2 FGFR2 FGFR3
12 hypertropia 10.1 FGFR2 FGFR3
13 synovial chondromatosis 10.1 FGFR1 FGFR3
14 osteochondroma 10.0 FGFR1 FGFR3
15 chromosome 2q35 duplication syndrome 10.0 FGFR2 FGFR3
16 radioulnar synostosis 10.0 FGFR1 FGFR2
17 giant cell glioblastoma 10.0 FGFR1 FGFR3
18 porokeratosis 9.9 FGFR2 FGFR3
19 antley-bixler syndrome 9.9 FGFR1 FGFR2
20 hepatitis c virus 9.9
21 hepatitis 9.9
22 motor neuron disease 9.9
23 hepatitis c 9.9
24 neuronitis 9.9
25 cleft palate, isolated 9.8
26 kleeblattschaedel 9.8
27 retinoblastoma 9.8
28 down syndrome 9.8
29 insulin-like growth factor i 9.8
30 hypophosphatemic rickets, x-linked recessive 9.8
31 cohen-gibson syndrome 9.8
32 spinal stenosis 9.8
33 rickets 9.8
34 hypophosphatasia 9.8
35 epilepsy 9.8
36 focal epilepsy 9.8
37 plagiocephaly 9.8 FGFR1 FGFR2 FGFR3
38 osteoglophonic dysplasia 9.7 FGFR1 FGFR2 FGFR3
39 jackson-weiss syndrome 9.7 FGFR1 FGFR2 FGFR3
40 apert syndrome 9.7 FGFR1 FGFR2 FGFR3
41 crouzon syndrome 9.7 FGFR1 FGFR2 FGFR3
42 saethre-chotzen syndrome 9.7 FGFR1 FGFR2 FGFR3
43 pfeiffer syndrome 9.7 FGFR1 FGFR2 FGFR3
44 synostosis 9.7 FGFR1 FGFR2 FGFR3
45 lung squamous cell carcinoma 9.7 FGFR1 FGFR2 FGFR3
46 tooth agenesis 9.6 FGF3 FGFR1 FGFR2
47 gliosarcoma 9.6 FGFR1 FGFR3
48 acromesomelic dysplasia, maroteaux type 9.6 FGFR3 GHR NPPC
49 bone development disease 9.4 FGFR1 FGFR2 FGFR3 SHOX
50 lacrimoauriculodentodigital syndrome 9.4 FGF3 FGFR1 FGFR2 FGFR3

Graphical network of the top 20 diseases related to Hypochondroplasia:



Diseases related to Hypochondroplasia

Symptoms & Phenotypes for Hypochondroplasia

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckHead:
macrocephaly
mild frontal bossing

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

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

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

SkinNailsHairSkin:
acanthosis nigricans (rare)

SkeletalHands:
brachydactyly
lack of trident hand helps distinguish it from achondroplasia

NeurologicCentralNervousSystem:
occasional mental retardation

HeadAndNeckFace:
normal/mild midface hypoplasia

SkeletalPelvis:
short, squared ilia


Clinical features from OMIM:

146000

Human phenotypes related to Hypochondroplasia:

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000256
2 osteoarthritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002758
3 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
4 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
5 hyperlordosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003307
6 sleep apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0010535
7 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002652
8 abnormality of the metaphysis 55 31 frequent (33%) Frequent (79-30%) HP:0000944
9 micromelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002983
10 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
11 abnormal form of the vertebral bodies 55 31 hallmark (90%) Very frequent (99-80%) HP:0003312
12 short toe 55 31 hallmark (90%) Very frequent (99-80%) HP:0001831
13 abnormality of femur morphology 55 31 frequent (33%) Frequent (79-30%) HP:0002823
14 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
15 genu varum 55 31 frequent (33%) Frequent (79-30%) HP:0002970
16 spinal canal stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003416
17 abnormality of pelvic girdle bone morphology 55 31 frequent (33%) Frequent (79-30%) HP:0002644
18 abnormality of the elbow 55 31 frequent (33%) Frequent (79-30%) HP:0009811
19 childhood onset short-limb short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0011405
20 malar flattening 31 HP:0000272
21 frontal bossing 31 HP:0002007
22 bowing of the long bones 55 Occasional (29-5%)
23 acanthosis nigricans 31 occasional (7.5%) HP:0000956
24 short long bone 31 HP:0003026
25 lumbar hyperlordosis 31 HP:0002938
26 limited elbow extension 31 HP:0001377
27 flared metaphysis 31 HP:0003015
28 aplasia/hypoplasia of the extremities 31 HP:0009815

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

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.85 FGF3 FGFR1 FGFR2 FGFR3 GHR NPPC
2 limbs/digits/tail MP:0005371 9.73 FGF3 FGFR1 FGFR2 FGFR3 GHR NPPC
3 craniofacial MP:0005382 9.71 FGFR1 FGFR2 FGFR3 NPPC
4 nervous system MP:0003631 9.63 FGF3 FGFR1 FGFR2 FGFR3 GHR NPPC
5 hearing/vestibular/ear MP:0005377 9.62 FGFR2 FGFR3 FGF3 FGFR1
6 reproductive system MP:0005389 9.43 FGF3 FGFR1 FGFR2 FGFR3 GHR NPPC
7 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 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:


# 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-trea 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

Genetic Tests for Hypochondroplasia

Genetic tests related to Hypochondroplasia:

# Genetic test Affiliating Genes
1 Hypochondroplasia 28 FGFR3

Anatomical Context for Hypochondroplasia

MalaCards organs/tissues related to Hypochondroplasia:

38
Bone, Temporal Lobe, Skin, Bone Marrow

Publications for Hypochondroplasia

Articles related to Hypochondroplasia:

(show top 50) (show all 121)
# Title Authors Year
1
Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family. ( 29150894 )
2018
2
Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia. ( 29080836 )
2018
3
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia. ( 29190002 )
2017
4
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )
2017
5
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. ( 28763161 )
2017
6
Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in<i>FGFR3</i>. ( 29026271 )
2017
7
Criteria for radiologic diagnosis of hypochondroplasia in neonates. ( 26867606 )
2016
8
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. ( 26814021 )
2016
9
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3. ( 27507911 )
2016
10
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. ( 25809207 )
2015
11
Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis. ( 26555758 )
2015
12
Low bone mineral density in achondroplasia and hypochondroplasia. ( 26716907 )
2015
13
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? ( 25505998 )
2014
14
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. ( 25387261 )
2014
15
Growth hormone treatment in patients with hypochondroplasia. ( 25531227 )
2014
16
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. ( 24839128 )
2014
17
An association of hypochondroplasia and immune deficiency. ( 24756051 )
2014
18
Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort. ( 25323764 )
2014
19
Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome? ( 24630288 )
2014
20
Homozygous N540K hypochondroplasia--first report: radiological and clinical features. ( 24715719 )
2014
21
Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia. ( 25183602 )
2014
22
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review. ( 24411048 )
2013
23
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. ( 23726269 )
2013
24
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
25
Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 23459260 )
2013
26
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. ( 22137367 )
2012
27
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. ( 23149434 )
2012
28
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. ( 22302603 )
2012
29
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. ( 22903874 )
2012
30
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. ( 23045425 )
2012
31
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. ( 23165795 )
2012
32
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. ( 22888019 )
2012
33
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. ( 21225389 )
2011
34
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). ( 21873755 )
2011
35
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
36
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. ( 21510009 )
2010
37
[Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. ( 20890030 )
2010
38
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. ( 20226364 )
2010
39
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? ( 18583390 )
2008
40
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. ( 17895900 )
2008
41
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
42
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. ( 17256796 )
2007
43
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. ( 16354969 )
2006
44
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. ( 16912704 )
2006
45
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. ( 16721528 )
2006
46
Prenatal diagnosis of hypochondroplasia: report of two cases. ( 16575888 )
2006
47
Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between dyschondrosteosis, Turner syndrome, and hypochondroplasia. ( 16796318 )
2006
48
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. ( 16418051 )
2005
49
Retinoblastoma and hypochondroplasia: a case report of two germline mutations arising simultaneously. ( 16020314 )
2005
50
Disproportionate stature but normal height in hypochondroplasia. ( 15909185 )
2005

Variations for Hypochondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:

71
# 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)
# 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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 FGF3 FGFR1 FGFR2 FGFR3 GHR
2
Show member pathways
13.11 FGF3 FGFR1 FGFR2 FGFR3 GHR
3
Show member pathways
12.87 FGF3 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.8 FGF3 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.65 FGF3 FGFR1 FGFR2 FGFR3
6 12.62 FGF3 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.54 FGF3 FGFR1 FGFR2 FGFR3 GHR
8 12.53 FGF3 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.5 FGF3 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.49 FGF3 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.45 FGFR1 FGFR2 FGFR3
12 12.38 FGF3 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.31 FGF3 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.28 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.23 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.19 FGF3 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.09 FGF3 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.07 FGF3 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.04 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.01 FGFR1 FGFR2 FGFR3
21 11.92 FGFR1 FGFR2 FGFR3
22 11.89 FGFR1 FGFR2 FGFR3
23
Show member pathways
11.74 FGF3 FGFR1 FGFR2 FGFR3
24 11.72 FGFR1 FGFR2 FGFR3
25 11.63 FGFR1 FGFR2 FGFR3
26
Show member pathways
11.46 FGF3 FGFR1 FGFR2 FGFR3
27 11.45 FGFR1 FGFR2 FGFR3
28 11.42 FGFR1 FGFR3 GHR
29 11.32 FGFR1 FGFR2
30 11.19 FGFR1 FGFR2 FGFR3
31 11.09 FGFR1 FGFR2 FGFR3
32 10.55 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 9.1 FGF3 FGFR1 FGFR2 FGFR3 GHR NPPC

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.87 FGF3 FGFR1 FGFR2 FGFR3
2 cell-cell signaling GO:0007267 9.82 FGF3 FGFR2 FGFR3
3 MAPK cascade GO:0000165 9.78 FGF3 FGFR1 FGFR2 FGFR3
4 protein autophosphorylation GO:0046777 9.76 FGFR1 FGFR2 FGFR3
5 skeletal system development GO:0001501 9.75 FGFR1 FGFR3 SHOX
6 peptidyl-tyrosine phosphorylation GO:0018108 9.71 FGF3 FGFR1 FGFR2 FGFR3
7 positive regulation of MAPK cascade GO:0043410 9.7 FGFR1 FGFR2 FGFR3
8 positive regulation of protein kinase B signaling GO:0051897 9.67 FGF3 FGFR1 FGFR2 FGFR3
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 FGFR3 GHR
10 inner ear morphogenesis GO:0042472 9.65 FGFR1 FGFR2
11 positive regulation of cell division GO:0051781 9.65 FGF3 FGFR2
12 ureteric bud development GO:0001657 9.64 FGFR1 FGFR2
13 skeletal system morphogenesis GO:0048705 9.63 FGFR1 FGFR2
14 chondrocyte differentiation GO:0002062 9.63 FGFR1 FGFR3
15 positive regulation of cell cycle GO:0045787 9.62 FGFR1 FGFR2
16 midbrain development GO:0030901 9.62 FGFR1 FGFR2
17 positive regulation of cardiac muscle cell proliferation GO:0060045 9.61 FGFR1 FGFR2
18 bone mineralization GO:0030282 9.61 FGFR2 FGFR3
19 bone morphogenesis GO:0060349 9.6 FGFR2 FGFR3
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.59 FGFR1 FGFR2
21 branching involved in salivary gland morphogenesis GO:0060445 9.56 FGFR1 FGFR2
22 phosphatidylinositol phosphorylation GO:0046854 9.56 FGF3 FGFR1 FGFR2 FGFR3
23 mesenchymal cell differentiation GO:0048762 9.55 FGFR1 FGFR2
24 lung-associated mesenchyme development GO:0060484 9.54 FGFR1 FGFR2
25 endochondral bone growth GO:0003416 9.51 FGFR2 FGFR3
26 regulation of multicellular organism growth GO:0040014 9.5 FGFR2 GHR NPPC
27 orbitofrontal cortex development GO:0021769 9.49 FGFR1 FGFR2
28 ventricular zone neuroblast division GO:0021847 9.46 FGFR1 FGFR2
29 fibroblast growth factor receptor signaling pathway GO:0008543 9.46 FGF3 FGFR1 FGFR2 FGFR3
30 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.43 FGFR1 FGFR2
31 positive regulation of phospholipase activity GO:0010518 9.13 FGFR1 FGFR2 FGFR3
32 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 homodimerization activity GO:0042803 9.73 FGFR1 FGFR2 GHR NPPC
2 protein tyrosine kinase activity GO:0004713 9.67 FGF3 FGFR1 FGFR2 FGFR3
3 nucleotide binding GO:0000166 9.63 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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