MCID: HYP042
MIFTS: 58

Hypochondroplasia

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

Aliases & Classifications for Hypochondroplasia

MalaCards integrated aliases for Hypochondroplasia:

Name: Hypochondroplasia 54 12 72 23 50 24 25 56 71 29 13 52 14
Hch 50 25 71
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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity, some patients not linked to fgfr3


HPO:

32
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:



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 thanatophoric dysplasia, type i and achondroplasia, and has symptoms including scoliosis, genu varum and macrocephaly. 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 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.

Wikipedia : 72 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:

(showing 57, show less)
id Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type i 26.3 FGF3 FGFR1 FGFR2 FGFR3 NPPC SHOX
2 achondroplasia 11.3
3 autism susceptibility, x-linked 2 10.3 FGFR3 SHOX
4 epiphyseal chondrodysplasia, miura type 10.2 FGFR3 NPPC
5 ocular hypotension 10.2 FGFR2 FGFR3
6 apert syndrome 10.2 FGFR2 FGFR3
7 esotropia 10.1 FGFR2 FGFR3
8 skin fragility-woolly hair-palmoplantar keratoderma syndrome 10.1 FGFR3 NPPC
9 crouzon syndrome with acanthosis nigricans 10.1 FGFR2 FGFR3
10 mucinoses 10.0 FGFR2 FGFR3
11 acanthosis nigricans 10.0
12 simosa craniofacial syndrome 10.0 FGFR2 FGFR3
13 breast cancer 10.0
14 central nervous system chondroma 9.9 FGFR2 FGFR3
15 syringobulbia 9.9 FGFR1 FGFR3
16 skeletal dysplasias 9.9
17 skeletal dysplasia 9.9
18 osteopetrosis and infantile neuroaxonal dystrophy 9.9 FGFR1 FGFR3
19 charcot-marie-tooth disease type 7 9.9 FGFR3 NPPC SHOX
20 dwarfism 9.8
21 juvenile astrocytoma 9.8 FGFR1 FGFR3
22 phkg2-related phosphorylase kinase deficiency 9.8 FGFR1 FGFR2
23 slc6a4-related altered drug metabolism 9.7 FGFR2 FGFR3 SHOX
24 hepatitis c 9.7
25 hepatitis c virus 9.7
26 neuronitis 9.7
27 hepatitis 9.7
28 motor neuron disease 9.7
29 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 9.7 FGFR1 FGFR2
30 y-linked disease 9.7 FGFR2 FGFR3
31 weill-marchesani syndrome 9.7 FGFR1 FGFR2
32 spinal stenosis 9.7
33 hypophosphatasia 9.7
34 epilepsy 9.7
35 focal epilepsy 9.7
36 turner syndrome 9.7
37 muenke syndrome 9.7
38 retinoblastoma 9.7
39 insulin-like growth factor i 9.7
40 down syndrome 9.7
41 leri-weill dyschondrosteosis 9.7
42 grade iii astrocytoma 9.6 FGFR1 FGFR3
43 paget's disease of bone 9.5 FGFR2 FGFR3
44 pancreatic serous cystic neoplasm 9.5 FGFR1 FGFR2
45 plasmalogens synthesis deficiency isolated 9.4 FGFR1 FGFR2 FGFR3
46 trigonocephaly 1 9.4 FGFR1 FGFR2 FGFR3
47 hypogonadotropic hypogonadism 2 with or without anosmia 9.4 FGFR1 FGFR2 FGFR3
48 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 9.4 FGFR1 FGFR2 FGFR3
49 beare-stevenson cutis gyrata syndrome 9.4 FGFR1 FGFR2 FGFR3
50 bladder cancer, somatic 9.4 FGFR1 FGFR2 FGFR3
51 craniosynostosis 1 9.4 FGFR1 FGFR2 FGFR3
52 jackson-weiss syndrome 9.4 FGFR1 FGFR2 FGFR3
53 osteopoikilosis 9.4 FGFR1 FGFR2 FGFR3
54 crohn's disease 9.3 FGFR1 FGFR2 FGFR3
55 primary congenital glaucoma 9.2 FGF3 FGFR1 FGFR2
56 ischemic bone disease 8.9 FGFR1 FGFR2 FGFR3 SHOX
57 thanatophoric dysplasia, type ii 8.9 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:

54

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

Head And Neck- Head:
macrocephaly
mild frontal bossing

Head And Neck- Face:
normal/mild midface hypoplasia

Skeletal- Pelvis:
short, squared ilia

Neurologic- Central Nervous System:
occasional mental retardation

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)


Clinical features from OMIM:

146000

Human phenotypes related to Hypochondroplasia:

56 32 (showing 30, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 genu varum 56 32 frequent (33%) Frequent (79-30%) HP:0002970
3 macrocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000256
4 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 osteoarthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002758
6 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
7 hyperlordosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003307
8 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
9 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
10 sleep apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0010535
11 spinal canal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003416
12 abnormal form of the vertebral bodies 56 32 hallmark (90%) Very frequent (99-80%) HP:0003312
13 short toe 56 32 hallmark (90%) Very frequent (99-80%) HP:0001831
14 abnormality of pelvic girdle bone morphology 56 32 frequent (33%) Frequent (79-30%) HP:0002644
15 abnormality of the elbow 56 32 frequent (33%) Frequent (79-30%) HP:0009811
16 childhood onset short-limb short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0011405
17 brachydactyly 32 hallmark (90%) HP:0001156
18 lumbar hyperlordosis 32 HP:0002938
19 frontal bossing 32 HP:0002007
20 limited elbow extension 32 HP:0001377
21 malar flattening 32 HP:0000272
22 bowing of the long bones 56 Occasional (29-5%)
23 abnormality of the metaphyses 56 Frequent (79-30%)
24 short long bone 32 HP:0003026
25 abnormality of the femur 56 Frequent (79-30%)
26 brachydactyly syndrome 56 Very frequent (99-80%)
27 flared metaphysis 32 HP:0003015
28 aplasia/hypoplasia of the extremities 32 HP:0009815
29 abnormality of the metaphysis 32 frequent (33%) HP:0000944
30 abnormality of femur morphology 32 frequent (33%) HP:0002823

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 (showing 6, show less)
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 FGF3 FGFR1 FGFR2 FGFR3
4 no phenotypic analysis MP:0003012 9.46 FGF3 FGFR1 FGFR2 FGFR3
5 reproductive system MP:0005389 9.35 NPPC FGF3 FGFR1 FGFR2 FGFR3
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):

(showing 5, show less)
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:

(showing 4, show less)

id 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:

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:

(showing 117, show less)
id Title Authors Year
1
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )
2017
2
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. ( 28763161 )
2017
3
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. ( 26814021 )
2016
4
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3. ( 27507911 )
2016
5
Criteria for radiologic diagnosis of hypochondroplasia in neonates. ( 26867606 )
2016
6
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. ( 25809207 )
2015
7
Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis. ( 26555758 )
2015
8
Low bone mineral density in achondroplasia and hypochondroplasia. ( 26716907 )
2015
9
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? ( 25505998 )
2014
10
Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome? ( 24630288 )
2014
11
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. ( 25387261 )
2014
12
An association of hypochondroplasia and immune deficiency. ( 24756051 )
2014
13
Homozygous N540K hypochondroplasia--first report: radiological and clinical features. ( 24715719 )
2014
14
Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia. ( 25183602 )
2014
15
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. ( 24839128 )
2014
16
Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort. ( 25323764 )
2014
17
Growth hormone treatment in patients with hypochondroplasia. ( 25531227 )
2014
18
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. ( 23726269 )
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
Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 23459260 )
2013
21
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
22
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. ( 22903874 )
2012
23
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. ( 23165795 )
2012
24
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. ( 22302603 )
2012
25
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. ( 22137367 )
2012
26
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. ( 22888019 )
2012
27
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. ( 23149434 )
2012
28
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. ( 23045425 )
2012
29
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. ( 21225389 )
2011
30
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). ( 21873755 )
2011
31
[Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. ( 20890030 )
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
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. ( 20226364 )
2010
34
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. ( 21510009 )
2010
35
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. ( 17895900 )
2008
36
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? ( 18583390 )
2008
37
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
38
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. ( 17256796 )
2007
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
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. ( 16912704 )
2006
42
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. ( 16354969 )
2006
43
Prenatal diagnosis of hypochondroplasia: report of two cases. ( 16575888 )
2006
44
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. ( 16355813 )
2005
45
Retinoblastoma and hypochondroplasia: a case report of two germline mutations arising simultaneously. ( 16020314 )
2005
46
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. ( 16418051 )
2005
47
Disproportionate stature but normal height in hypochondroplasia. ( 15909185 )
2005
48
Medial temporal lobe dysgenesis in hypochondroplasia. ( 16222682 )
2005
49
Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period. ( 14755409 )
2004
50
Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. ( 15345118 )
2004
51
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. ( 12794698 )
2003
52
Hypochondroplasia and stature within normal limits: another family with an Asn540-to-Ser mutation in the fibroblast growth factor receptor 3 gene. ( 12707965 )
2003
53
The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. ( 12733711 )
2003
54
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. ( 12476453 )
2003
55
[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia]. ( 15022403 )
2003
56
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. ( 11754059 )
2001
57
Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia. ( 11297088 )
2001
58
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. ( 11015576 )
2000
59
Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia. ( 10890199 )
2000
60
Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. ( 11030412 )
2000
61
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. ( 11071087 )
2000
62
Clinical and radiographic features of a family with hypochondroplasia owing to a novel asn540ser mutation in the fibroblast growth factor receptor 3 gene. ( 10777366 )
2000
63
[Molecular basis of achondroplasia, hypochondroplasia, and thanatophoric dysplasia]. ( 11057021 )
2000
64
Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus. ( 10564875 )
1999
65
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. ( 10360393 )
1999
66
Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia. ( 9932857 )
1999
67
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. ( 10405653 )
1999
68
Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity. ( 10361991 )
1999
69
Achondroplasia-hypochondroplasia complex in a newborn infant. ( 10360392 )
1999
70
Growth hormone therapy in hypochondroplasia. ( 10102069 )
1999
71
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. ( 10482885 )
1999
72
Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association. ( 9842995 )
1998
73
Genotype and phenotype in hypochondroplasia. ( 9672519 )
1998
74
Genotype phenotype correlation in achondroplasia and hypochondroplasia. ( 9853502 )
1998
75
A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia. ( 10395236 )
1998
76
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. ( 9869286 )
1998
77
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. ( 9452043 )
1998
78
FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients. ( 9554479 )
1998
79
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. ( 10215410 )
1998
80
Comparison of clinical-radiological and molecular findings in hypochondroplasia. ( 9450868 )
1998
81
Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 9372781 )
1997
82
Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene. ( 8702125 )
1996
83
[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia]. ( 8949408 )
1996
84
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. ( 9055906 )
1996
85
Clinical and genetic heterogeneity of hypochondroplasia. ( 8880574 )
1996
86
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. ( 8723101 )
1996
87
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. ( 7702086 )
1995
88
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. ( 7670477 )
1995
89
Possible genetic heterogeneity in hypochondroplasia. ( 7666407 )
1995
90
Confirmatory linkage of hypochondroplasia to chromosome arm 4p. ( 7677163 )
1995
91
A common FGFR3 gene mutation in hypochondroplasia. ( 8589686 )
1995
92
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. ( 8012398 )
1994
93
Hypochondroplasia ( 20301650 )
1993
94
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
95
The frequency of mental retardation in hypochondroplasia. ( 1956068 )
1991
96
Molecular genetics of hypochondroplasia. ( 1678996 )
1991
97
Growth of children with hypochondroplasia treated with growth hormone for up to three years. ( 1806487 )
1991
98
Basilar impression in a child with hypochondroplasia. ( 2029297 )
1991
99
Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia. ( 2202213 )
1990
100
Growth and growth hormone therapy in hypochondroplasia. ( 2239275 )
1990
101
Hypochondroplasia: radiological diagnosis and differential diagnosis. ( 3240246 )
1988
102
Achondroplasia-hypochondroplasia complex. ( 3591840 )
1987
103
An autosomal recessive bone dysplasia syndrome resembling hypochondroplasia. ( 4039054 )
1985
104
Prenatal diagnosis of hypochondroplasia. ( 3911194 )
1985
105
Multiple exostotic hypochondroplasia: syndrome of combined hypochondroplasia and multiple exostoses. ( 6332296 )
1984
106
Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. ( 7298674 )
1981
107
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. ( 458831 )
1979
108
The radiographic manifestations of hypochondroplasia. ( 421428 )
1979
109
Hypochondroplasia: clinical and radiological aspects in 39 cases. ( 472320 )
1979
110
Hypochondroplasia. ( 727810 )
1978
111
Hypochondroplasia. ( 1158967 )
1975
112
Hypochondroplasia. ( 1098822 )
1975
113
Probable case of achondroplasia-hypochondroplasia compound. ( 4461068 )
1974
114
The genetic entity of hypochondroplasia. ( 4838890 )
1974
115
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. ( 4697848 )
1973
116
Hypochondroplasia. ( 5564166 )
1971
117
Hypochondroplasia. A report of five kindreds. ( 5783850 )
1969

Variations for Hypochondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:

71 (showing 5, show less)
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 (showing 22, show less)
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:

(showing 31, show less)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 FGF3 FGFR1 FGFR2 FGFR3
2
Show member pathways
13.05 FGF3 FGFR1 FGFR2 FGFR3
3
Show member pathways
12.6 FGF3 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.49 FGF3 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.48 FGF3 FGFR1 FGFR2 FGFR3
6 12.44 FGF3 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.43 FGFR1 FGFR2 FGFR3
8 12.43 FGF3 FGFR1 FGFR2 FGFR3
9 12.39 FGF3 FGFR1 FGFR2 FGFR3
10 12.32 FGF3 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.26 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.26 FGF3 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.26 FGF3 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.2 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.08 FGF3 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.01 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.01 FGFR1 FGFR2 FGFR3
18
Show member pathways
12 FGF3 FGFR1 FGFR2 FGFR3
19
Show member pathways
11.96 FGF3 FGFR1 FGFR2 FGFR3
20 11.9 FGFR1 FGFR2 FGFR3
21 11.88 FGFR1 FGFR2 FGFR3
22 11.71 FGFR1 FGFR2 FGFR3
23 11.59 FGFR1 FGFR2 FGFR3
24 11.55 FGFR1 FGFR3
25
Show member pathways
11.54 FGF3 FGFR1 FGFR2 FGFR3
26 11.49 FGFR1 FGFR2 FGFR3
27 11.45 FGFR1 FGFR3
28 11.39 FGFR1 FGFR2 FGFR3
29 11.3 FGFR1 FGFR2
30
Show member pathways
11.12 FGF3 FGFR1 FGFR2 FGFR3
31 10.99 FGFR1 FGFR2 FGFR3

GO Terms for Hypochondroplasia

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

(showing 1, show less)
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:

(showing 34, show less)
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 9.82 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 9.63 FGFR1 FGFR2
17 midbrain development GO:0030901 9.63 FGFR1 FGFR2
18 positive regulation of cardiac muscle cell proliferation GO:0060045 9.62 FGFR1 FGFR2
19 bone mineralization GO:0030282 9.62 FGFR2 FGFR3
20 phosphatidylinositol phosphorylation GO:0046854 9.62 FGF3 FGFR1 FGFR2 FGFR3
21 bone morphogenesis GO:0060349 9.61 FGFR2 FGFR3
22 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 FGFR1 FGFR2
23 regulation of multicellular organism growth GO:0040014 9.6 FGFR2 NPPC
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:

(showing 9, show less)
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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