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 57 12 76 24 53 25 59 75 37 29 13 55 6 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
Orphanet 59 ORPHA429
ICD10 via Orphanet 34 Q77.4
UMLS via Orphanet 74 C0410529
MedGen 42 C0410529
KEGG 37 H02068

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 acanthosis nigricans and dwarfism. 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 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 macrocephaly and osteoarthritis

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.

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.

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.

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:

(showing 56, show less)
# Related Disease Score Top Affiliating Genes
1 acanthosis nigricans 30.2 FGFR2 FGFR3
2 dwarfism 29.8 FGFR3 GHR
3 thanatophoric dysplasia, type i 29.6 FGFR1 FGFR2 FGFR3
4 skeletal dysplasias 29.5 FGFR3 NPPC
5 leri-weill dyschondrosteosis 29.4 FGFR3 GHR SHOX
6 turner syndrome 29.2 GHR SHOX
7 muenke syndrome 29.0 FGFR1 FGFR2 FGFR3
8 craniosynostosis 28.9 FGFR1 FGFR2 FGFR3
9 achondroplasia 28.5 FGF3 FGFR1 FGFR2 FGFR3 NPPC SHOX
10 hemifacial hyperplasia 10.3 FGFR2 FGFR3
11 luteoma 10.3 FGFR2 FGFR3
12 beare-stevenson cutis gyrata syndrome 10.3 FGFR2 FGFR3
13 hypertropia 10.2 FGFR2 FGFR3
14 exophthalmos 10.1 FGFR2 FGFR3
15 synovial chondromatosis 10.1 FGFR1 FGFR3
16 chondroblastoma 10.1 FGFR1 FGFR3
17 breast cancer 10.0
18 osteochondroma 10.0 FGFR1 FGFR3
19 giant cell glioblastoma 10.0 FGFR1 FGFR3
20 radioulnar synostosis 9.9 FGFR1 FGFR2
21 chromosome 2q35 duplication syndrome 9.9 FGFR2 FGFR3
22 antley-bixler syndrome 9.9 FGFR1 FGFR2
23 hepatitis c virus 9.9
24 hepatitis 9.9
25 motor neuron disease 9.9
26 hepatitis c 9.9
27 neuronitis 9.9
28 cleft palate, isolated 9.7
29 diabetes mellitus, noninsulin-dependent 9.7
30 kleeblattschaedel 9.7
31 retinoblastoma 9.7
32 down syndrome 9.7
33 insulin-like growth factor i 9.7
34 hypophosphatemic rickets, x-linked recessive 9.7
35 spinal stenosis 9.7
36 bone disease 9.7
37 rickets 9.7
38 hypophosphatasia 9.7
39 epilepsy 9.7
40 focal epilepsy 9.7
41 type i 9.7
42 plagiocephaly 9.6 FGFR1 FGFR2 FGFR3
43 osteoglophonic dysplasia 9.6 FGFR1 FGFR2 FGFR3
44 jackson-weiss syndrome 9.6 FGFR1 FGFR2 FGFR3
45 apert syndrome 9.6 FGFR1 FGFR2 FGFR3
46 crouzon syndrome 9.6 FGFR1 FGFR2 FGFR3
47 saethre-chotzen syndrome 9.6 FGFR1 FGFR2 FGFR3
48 pfeiffer syndrome 9.6 FGFR1 FGFR2 FGFR3
49 synostosis 9.6 FGFR1 FGFR2 FGFR3
50 lung squamous cell carcinoma 9.5 FGFR1 FGFR2 FGFR3
51 adenocarcinoma 9.5 FGFR1 FGFR2 FGFR3
52 tooth agenesis 9.4 FGF3 FGFR1 FGFR2
53 gliosarcoma 9.4 FGFR1 FGFR3
54 acromesomelic dysplasia, maroteaux type 9.4 FGFR3 GHR NPPC
55 bone development disease 9.1 FGFR1 FGFR2 FGFR3 SHOX
56 lacrimoauriculodentodigital syndrome 9.1 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:

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 (showing 28, show less)
# 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 (showing 1, show less)
# 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 (showing 7, show less)
# 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 FGF3 FGFR1 FGFR2 FGFR3
6 reproductive system MP:0005389 9.43 GHR NPPC FGF3 FGFR1 FGFR2 FGFR3
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):

(showing 5, show less)
# 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)
# 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 29 FGFR3

Anatomical Context for Hypochondroplasia

MalaCards organs/tissues related to Hypochondroplasia:

41
Bone, Temporal Lobe, Skin, Bone Marrow

Publications for Hypochondroplasia

Articles related to Hypochondroplasia:

(showing 123, show less)
# 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
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )
2017
6
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia. ( 29190002 )
2017
7
Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in<i>FGFR3</i>. ( 29026271 )
2017
8
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. ( 28763161 )
2017
9
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. ( 26814021 )
2016
10
Criteria for radiologic diagnosis of hypochondroplasia in neonates. ( 26867606 )
2016
11
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3. ( 27507911 )
2016
12
Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis. ( 26555758 )
2015
13
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. ( 25809207 )
2015
14
Low bone mineral density in achondroplasia and hypochondroplasia. ( 26716907 )
2015
15
Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome? ( 24630288 )
2014
16
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. ( 25387261 )
2014
17
Growth hormone treatment in patients with hypochondroplasia. ( 25531227 )
2014
18
Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia. ( 25183602 )
2014
19
An association of hypochondroplasia and immune deficiency. ( 24756051 )
2014
20
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. ( 24839128 )
2014
21
Homozygous N540K hypochondroplasia--first report: radiological and clinical features. ( 24715719 )
2014
22
Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort. ( 25323764 )
2014
23
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? ( 25505998 )
2014
24
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. ( 23726269 )
2013
25
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review. ( 24411048 )
2013
26
Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 23459260 )
2013
27
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&amp;gt;A, p.N540K). ( 23614116 )
2013
28
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. ( 22903874 )
2012
29
Hypochondroplasia in a child with 1620C&amp;gt;G (Asn540Lys) mutation in FGFR3. ( 23149434 )
2012
30
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. ( 23165795 )
2012
31
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. ( 22137367 )
2012
32
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. ( 22888019 )
2012
33
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. ( 23045425 )
2012
34
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. ( 22302603 )
2012
35
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). ( 21873755 )
2011
36
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. ( 21225389 )
2011
37
[Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. ( 20890030 )
2010
38
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
39
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. ( 20226364 )
2010
40
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. ( 21510009 )
2010
41
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. ( 17895900 )
2008
42
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? ( 18583390 )
2008
43
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. ( 17256796 )
2007
44
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
45
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. ( 16912704 )
2006
46
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. ( 16721528 )
2006
47
Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between dyschondrosteosis, Turner syndrome, and hypochondroplasia. ( 16796318 )
2006
48
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. ( 16354969 )
2006
49
Prenatal diagnosis of hypochondroplasia: report of two cases. ( 16575888 )
2006
50
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. ( 16355813 )
2005
51
Disproportionate stature but normal height in hypochondroplasia. ( 15909185 )
2005
52
Retinoblastoma and hypochondroplasia: a case report of two germline mutations arising simultaneously. ( 16020314 )
2005
53
Medial temporal lobe dysgenesis in hypochondroplasia. ( 16222682 )
2005
54
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. ( 16418051 )
2005
55
Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period. ( 14755409 )
2004
56
Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. ( 15345118 )
2004
57
Hypochondroplasia and stature within normal limits: another family with an Asn540-to-Ser mutation in the fibroblast growth factor receptor 3 gene. ( 12707965 )
2003
58
[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia]. ( 15022403 )
2003
59
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. ( 12476453 )
2003
60
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. ( 12794698 )
2003
61
The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. ( 12733711 )
2003
62
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. ( 11754059 )
2001
63
Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia. ( 11297088 )
2001
64
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. ( 11015576 )
2000
65
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
66
Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia. ( 10890199 )
2000
67
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. ( 11071087 )
2000
68
[Molecular basis of achondroplasia, hypochondroplasia, and thanatophoric dysplasia]. ( 11057021 )
2000
69
Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. ( 11030412 )
2000
70
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. ( 10360393 )
1999
71
Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus. ( 10564875 )
1999
72
Achondroplasia-hypochondroplasia complex in a newborn infant. ( 10360392 )
1999
73
Growth hormone therapy in hypochondroplasia. ( 10102069 )
1999
74
Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia. ( 9932857 )
1999
75
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. ( 10482885 )
1999
76
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. ( 10405653 )
1999
77
Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity. ( 10361991 )
1999
78
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. ( 9869286 )
1998
79
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. ( 10215410 )
1998
80
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. ( 9452043 )
1998
81
Genotype and phenotype in hypochondroplasia. ( 9672519 )
1998
82
A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia. ( 10395236 )
1998
83
Comparison of clinical-radiological and molecular findings in hypochondroplasia. ( 9450868 )
1998
84
Genotype phenotype correlation in achondroplasia and hypochondroplasia. ( 9853502 )
1998
85
Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association. ( 9842995 )
1998
86
FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients. ( 9554479 )
1998
87
Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 9372781 )
1997
88
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. ( 9055906 )
1996
89
Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene. ( 8702125 )
1996
90
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. ( 8723101 )
1996
91
[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia]. ( 8949408 )
1996
92
Clinical and genetic heterogeneity of hypochondroplasia. ( 8880574 )
1996
93
A common FGFR3 gene mutation in hypochondroplasia. ( 8589686 )
1995
94
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. ( 7702086 )
1995
95
Confirmatory linkage of hypochondroplasia to chromosome arm 4p. ( 7677163 )
1995
96
Possible genetic heterogeneity in hypochondroplasia. ( 7666407 )
1995
97
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. ( 7670477 )
1995
98
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. ( 8012398 )
1994
99
Hypochondroplasia ( 20301650 )
1993
100
Basilar impression in a child with hypochondroplasia. ( 2029297 )
1991
101
Growth of children with hypochondroplasia treated with growth hormone for up to three years. ( 1806487 )
1991
102
Molecular genetics of hypochondroplasia. ( 1678996 )
1991
103
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
104
The frequency of mental retardation in hypochondroplasia. ( 1956068 )
1991
105
Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia. ( 2202213 )
1990
106
Growth and growth hormone therapy in hypochondroplasia. ( 2239275 )
1990
107
Hypochondroplasia: radiological diagnosis and differential diagnosis. ( 3240246 )
1988
108
Achondroplasia-hypochondroplasia complex. ( 3591840 )
1987
109
An autosomal recessive bone dysplasia syndrome resembling hypochondroplasia. ( 4039054 )
1985
110
Prenatal diagnosis of hypochondroplasia. ( 3911194 )
1985
111
Multiple exostotic hypochondroplasia: syndrome of combined hypochondroplasia and multiple exostoses. ( 6332296 )
1984
112
Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. ( 7298674 )
1981
113
The radiographic manifestations of hypochondroplasia. ( 421428 )
1979
114
Hypochondroplasia: clinical and radiological aspects in 39 cases. ( 472320 )
1979
115
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. ( 458831 )
1979
116
Hypochondroplasia. ( 727810 )
1978
117
Hypochondroplasia. ( 1098822 )
1975
118
Hypochondroplasia. ( 1158967 )
1975
119
The genetic entity of hypochondroplasia. ( 4838890 )
1974
120
Probable case of achondroplasia-hypochondroplasia compound. ( 4461068 )
1974
121
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. ( 4697848 )
1973
122
Hypochondroplasia. ( 5564166 )
1971
123
Hypochondroplasia. A report of five kindreds. ( 5783850 )
1969

Variations for Hypochondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:

75 (showing 5, show less)
# 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 40, show less)
# 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.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh37 Chromosome 4, 1803657: 1803657
16 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh38 Chromosome 4, 1801930: 1801930
17 FGFR3 NM_001163213.1(FGFR3): c.833A> G (p.Tyr278Cys) single nucleotide variant Pathogenic rs121913115 GRCh37 Chromosome 4, 1803655: 1803655
18 FGFR3 NM_001163213.1(FGFR3): c.833A> G (p.Tyr278Cys) single nucleotide variant Pathogenic rs121913115 GRCh38 Chromosome 4, 1801928: 1801928
19 FGFR3 NM_000142.4(FGFR3): c.251C> T (p.Ser84Leu) single nucleotide variant Pathogenic rs121913116 GRCh37 Chromosome 4, 1801122: 1801122
20 FGFR3 NM_000142.4(FGFR3): c.251C> T (p.Ser84Leu) single nucleotide variant Pathogenic rs121913116 GRCh38 Chromosome 4, 1799395: 1799395
21 FGFR3 NM_000142.4(FGFR3): c.344A> T (p.Gln115Leu) single nucleotide variant Pathogenic rs587778769 GRCh37 Chromosome 4, 1801215: 1801215
22 FGFR3 NM_000142.4(FGFR3): c.344A> T (p.Gln115Leu) single nucleotide variant Pathogenic rs587778769 GRCh38 Chromosome 4, 1799488: 1799488
23 NP_000133.1: p.Gly65Arg undetermined variant Pathogenic
24 FGFR3 NM_000142.4(FGFR3): c.791C> T (p.Thr264Met) single nucleotide variant Pathogenic rs587778773 GRCh37 Chromosome 4, 1803613: 1803613
25 FGFR3 NM_000142.4(FGFR3): c.791C> T (p.Thr264Met) single nucleotide variant Pathogenic rs587778773 GRCh38 Chromosome 4, 1801886: 1801886
26 FGFR3 NM_000142.4(FGFR3): c.1024G> T (p.Gly342Cys) single nucleotide variant Pathogenic rs587778775 GRCh37 Chromosome 4, 1805512: 1805512
27 FGFR3 NM_000142.4(FGFR3): c.1024G> T (p.Gly342Cys) single nucleotide variant Pathogenic rs587778775 GRCh38 Chromosome 4, 1803785: 1803785
28 FGFR3 NM_000142.4(FGFR3): c.1142T> A (p.Val381Glu) single nucleotide variant Pathogenic rs587778776 GRCh37 Chromosome 4, 1806123: 1806123
29 FGFR3 NM_000142.4(FGFR3): c.1142T> A (p.Val381Glu) single nucleotide variant Pathogenic rs587778776 GRCh38 Chromosome 4, 1804396: 1804396
30 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
31 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh38 Chromosome 4, 1806163: 1806163
32 FGFR3 NM_000142.4(FGFR3): c.597C> T (p.His199=) single nucleotide variant Pathogenic rs587778801 GRCh37 Chromosome 4, 1803245: 1803245
33 FGFR3 NM_000142.4(FGFR3): c.597C> T (p.His199=) single nucleotide variant Pathogenic rs587778801 GRCh38 Chromosome 4, 1801518: 1801518
34 NM_000142.4: c.783A> C single nucleotide variant Pathogenic
35 FGFR3 NM_000142.4(FGFR3): c.801G> T (p.Leu267=) single nucleotide variant Pathogenic rs587778811 GRCh37 Chromosome 4, 1803623: 1803623
36 FGFR3 NM_000142.4(FGFR3): c.801G> T (p.Leu267=) single nucleotide variant Pathogenic rs587778811 GRCh38 Chromosome 4, 1801896: 1801896
37 FGFR3 NM_000142.4(FGFR3): c.970C> G (p.Leu324Val) single nucleotide variant Pathogenic rs587778816 GRCh37 Chromosome 4, 1805458: 1805458
38 FGFR3 NM_000142.4(FGFR3): c.970C> G (p.Leu324Val) single nucleotide variant Pathogenic rs587778816 GRCh38 Chromosome 4, 1803731: 1803731
39 FGFR3 NM_000142.4(FGFR3): c.983A> T (p.Asn328Ile) single nucleotide variant Pathogenic rs587778817 GRCh37 Chromosome 4, 1805471: 1805471
40 FGFR3 NM_000142.4(FGFR3): c.983A> T (p.Asn328Ile) single nucleotide variant Pathogenic rs587778817 GRCh38 Chromosome 4, 1803744: 1803744

Expression for Hypochondroplasia

Search GEO for disease gene expression data for Hypochondroplasia.

Pathways for Hypochondroplasia

Pathways related to Hypochondroplasia according to KEGG:

37 (showing 5, show less)
# 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:

(showing 34, show less)
# 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
12.66 FGF3 FGFR1 FGFR2 FGFR3
5 12.62 FGF3 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.55 FGF3 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.55 FGF3 FGFR1 FGFR2 FGFR3 GHR
8 12.54 FGF3 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.51 FGF3 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.5 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
12.29 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.24 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.15 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
12.06 FGFR1 FGFR2 FGFR3
20 11.96 FGFR1 FGFR2 FGFR3
21 11.96 FGFR1 FGFR2 FGFR3
22 11.91 FGFR1 FGFR2 FGFR3
23
Show member pathways
11.87 FGFR1 FGFR2 FGFR3
24
Show member pathways
11.84 FGFR1 FGFR2 FGFR3
25
Show member pathways
11.74 FGF3 FGFR1 FGFR2 FGFR3
26 11.73 FGFR1 FGFR2 FGFR3
27 11.66 FGFR1 FGFR2 FGFR3
28 11.56 FGFR1 FGFR3
29 11.47 FGFR1 FGFR2 FGFR3
30
Show member pathways
11.46 FGF3 FGFR1 FGFR2 FGFR3
31 11.45 FGFR1 FGFR3 GHR
32 11.32 FGFR1 FGFR2
33 11.09 FGFR1 FGFR2 FGFR3
34 10.55 FGF3 FGFR1 FGFR2 FGFR3

GO Terms for Hypochondroplasia

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

(showing 2, show less)
# 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:

(showing 38, show less)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.97 FGF3 FGFR1 FGFR2 FGFR3
2 multicellular organism development GO:0007275 9.97 FGF3 FGFR1 FGFR2 FGFR3 SHOX
3 positive regulation of cell proliferation GO:0008284 9.88 FGF3 FGFR1 FGFR2 FGFR3
4 cell-cell signaling GO:0007267 9.84 FGF3 FGFR2 FGFR3
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.79 FGFR1 FGFR2 FGFR3
6 protein autophosphorylation GO:0046777 9.78 FGFR1 FGFR2 FGFR3
7 MAPK cascade GO:0000165 9.78 FGF3 FGFR1 FGFR2 FGFR3
8 positive regulation of MAPK cascade GO:0043410 9.77 FGFR1 FGFR2 FGFR3
9 skeletal system development GO:0001501 9.77 FGFR1 FGFR3 SHOX
10 negative regulation of signal transduction GO:0009968 9.73 FGFR1 FGFR2 FGFR3
11 peptidyl-tyrosine phosphorylation GO:0018108 9.71 FGF3 FGFR1 FGFR2 FGFR3
12 positive regulation of kinase activity GO:0033674 9.69 FGFR1 FGFR2 FGFR3
13 post-embryonic development GO:0009791 9.68 FGFR2 NPPC
14 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.67 FGFR3 GHR
15 inner ear morphogenesis GO:0042472 9.67 FGFR1 FGFR2
16 positive regulation of protein kinase B signaling GO:0051897 9.67 FGF3 FGFR1 FGFR2 FGFR3
17 positive regulation of cell division GO:0051781 9.66 FGF3 FGFR2
18 ureteric bud development GO:0001657 9.65 FGFR1 FGFR2
19 positive regulation of cell cycle GO:0045787 9.65 FGFR1 FGFR2
20 skeletal system morphogenesis GO:0048705 9.65 FGFR1 FGFR2
21 chondrocyte differentiation GO:0002062 9.64 FGFR1 FGFR3
22 midbrain development GO:0030901 9.64 FGFR1 FGFR2
23 positive regulation of cardiac muscle cell proliferation GO:0060045 9.63 FGFR1 FGFR2
24 bone mineralization GO:0030282 9.63 FGFR2 FGFR3
25 bone morphogenesis GO:0060349 9.62 FGFR2 FGFR3
26 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 FGFR1 FGFR2
27 branching involved in salivary gland morphogenesis GO:0060445 9.57 FGFR1 FGFR2
28 phosphatidylinositol phosphorylation GO:0046854 9.56 FGF3 FGFR1 FGFR2 FGFR3
29 mesenchymal cell differentiation GO:0048762 9.55 FGFR1 FGFR2
30 lung-associated mesenchyme development GO:0060484 9.54 FGFR1 FGFR2
31 endochondral bone growth GO:0003416 9.52 FGFR2 FGFR3
32 regulation of multicellular organism growth GO:0040014 9.5 FGFR2 GHR NPPC
33 orbitofrontal cortex development GO:0021769 9.49 FGFR1 FGFR2
34 ventricular zone neuroblast division GO:0021847 9.46 FGFR1 FGFR2
35 fibroblast growth factor receptor signaling pathway GO:0008543 9.46 FGF3 FGFR1 FGFR2 FGFR3
36 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.43 FGFR1 FGFR2
37 positive regulation of phospholipase activity GO:0010518 9.13 FGFR1 FGFR2 FGFR3
38 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 12, show less)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.78 FGFR1 FGFR2 GHR NPPC
2 nucleotide binding GO:0000166 9.69 FGFR1 FGFR2 FGFR3
3 transmembrane signaling receptor activity GO:0004888 9.67 FGFR1 FGFR2 FGFR3
4 protein tyrosine kinase activity GO:0004713 9.67 FGF3 FGFR1 FGFR2 FGFR3
5 MAP kinase kinase kinase activity GO:0004709 9.63 FGFR1 FGFR2 FGFR3
6 mitogen-activated protein kinase kinase binding GO:0031434 9.61 FGFR1 FGFR2 FGFR3
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 FGFR1 FGFR2 FGFR3
8 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.56 FGF3 FGFR1 FGFR2 FGFR3
9 fibroblast growth factor binding GO:0017134 9.5 FGFR1 FGFR2 FGFR3
10 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.46 FGF3 FGFR1 FGFR2 FGFR3
11 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF3 FGFR1 FGFR2 FGFR3
12 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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