HCH
MCID: HYP042
MIFTS: 60

Hypochondroplasia (HCH)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Hypochondroplasia

MalaCards integrated aliases for Hypochondroplasia:

Name: Hypochondroplasia 57 11 24 19 42 58 75 73 28 12 53 5 43 14 38 33
Hch 57 19 42 73
Hypochondroplastic Short Stature 33
Hypochondroplastic Dwarfism 33
Chondrogenesis Imperfecta 33
Hypochondrodysplasia 42

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-9/100000 (Europe) 58

Age Of Onset:

Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity, some patients not linked to fgfr3


GeneReviews:

24
Penetrance Because of evidence that the height range in hypochondroplasia may overlap that of the unaffected population, individuals with hypochondroplasia may not be recognized as having a skeletal dysplasia unless an astute physician recognizes their disproportionate short stature. to date, however, all reported individuals with an fgfr3 pathogenic variant have had 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:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080041
OMIM® 57 146000
MeSH 43 C562937
NCIt 49 C118697
SNOMED-CT 68 205468002
ICD10 31 Q77.4
ICD10 via Orphanet 32 Q77.4
UMLS via Orphanet 72 C0410529
Orphanet 58 ORPHA429
MedGen 40 C0410529
ICD11 33 1930265486
UMLS 71 C0410529

Summaries for Hypochondroplasia

MedlinePlus Genetics: 42 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.All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches).People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.

MalaCards based summary: Hypochondroplasia, also known as hch, is related to achondrogenesis, type ii and achondroplasia. An important gene associated with Hypochondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and Disease. The drugs Hormones and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include bone, temporal lobe and occipital lobe, and related phenotypes are skeletal dysplasia and abnormal form of the vertebral bodies

GARD: 19 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 genetic changes in the FGFR3 gene and is inherited in an autosomal dominant fashion.

OMIM®: 57 Hypochondroplasia (HCH) is an 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) (Updated 08-Dec-2022)

Disease Ontology: 11 An osteochondrodysplasia that has material basis in mutation in the FGFR3 gene which affects ossification of cartilage and results in short limb dwarfism.

Orphanet: 58 A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

UniProtKB/Swiss-Prot: 73 Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.

Wikipedia: 75 Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in... more...

GeneReviews: NBK1477

Related Diseases for Hypochondroplasia

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

(show top 50) (show all 180)
# Related Disease Score Top Affiliating Genes
1 achondrogenesis, type ii 31.7 COL2A1 COL10A1 ACAN
2 achondroplasia 30.3 TK1 SOX9 SHOX NPPC FGFR3 FGFR2
3 crouzon syndrome with acanthosis nigricans 30.1 FGFR3 FGFR2
4 hypochondrogenesis 29.9 COL2A1 COL10A1 ACAN
5 leri-weill dyschondrosteosis 29.9 SHOX NPR2 NPPC IHH FGFR3 ACAN
6 spinal stenosis 29.8 FGF9 FGF1 COL2A1 ACAN
7 camptodactyly-tall stature-scoliosis-hearing loss syndrome 29.5 NPR2 NPPC IHH FGFR3 FGF18
8 achondrogenesis 29.4 TRIP11 FGFR3 COL2A1 COL10A1 ACAN
9 muenke syndrome 29.4 FGFR4 FGFR3 FGFR2 FGFR1 FGF9
10 acromesomelic dysplasia 1 29.3 SHOX NPR2 NPPC FGFR3 COL2A1 ACAN
11 bone disease 29.3 FGFR3 FGFR2 FGFR1 FGF9 COL2A1 COL10A1
12 achondroplasia, severe, with developmental delay and acanthosis nigricans 29.0 NPR2 NPPC IHH FGFR4 FGFR3 FGFR2
13 isolated growth hormone deficiency, type ia 28.9 SOX9 SHOX NPR2 NPPC FGFR3 FGFR2
14 acromesomelic dysplasia 28.7 SHOX NPR2 NPPC IHH FGFR3 COL2A1
15 lacrimoauriculodentodigital syndrome 28.7 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF3
16 brachydactyly 28.5 TRIP11 SOX9 NPR2 IHH FGFR3 COL2A1
17 thanatophoric dysplasia, type i 28.2 TK1 SHOX NPR2 NPPC IHH FGFR4
18 cleft palate, isolated 28.2 SOX9 IHH FGFR3 FGFR2 FGFR1 FGF3
19 crouzon syndrome 27.5 NPR2 NPPC IHH FGFR4 FGFR3 FGFR2
20 craniosynostosis 27.3 SOX9 NPR2 IHH FGFR4 FGFR3 FGFR2
21 osteochondrodysplasia 27.1 TRIP11 SOX9 SHOX NPR2 NPPC IHH
22 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
23 hemifacial hyperplasia 10.3 FGFR3 FGFR2
24 acanthosis nigricans 10.3
25 testicular spermatocytic seminoma 10.3 FGFR3 FGFR2
26 plagiocephaly 10.2 FGFR3 FGFR2 FGFR1
27 hypertelorism, microtia, facial clefting syndrome 10.2 FGFR3 FGFR2 FGFR1
28 congenital disorder of glycosylation, type iim 10.2 FGFR3 FGFR2 FGFR1
29 luteoma 10.2 FGFR3 FGFR2
30 antley-bixler syndrome 10.2 FGFR3 FGFR2 FGFR1
31 paraphimosis 10.2 NPR2 NPPC
32 primary bone dysplasia 10.2 FGFR3 COL2A1
33 nevus, epidermal 10.2 FGFR3 FGFR2 FGFR1
34 spondyloepiphyseal dysplasia, kimberley type 10.1 SHOX NPR2 ACAN
35 acrocapitofemoral dysplasia 10.1 NPR2 NPPC IHH
36 keratomalacia 10.1
37 pfeiffer syndrome 10.1 TK1 FGFR3 FGFR2 FGFR1
38 rasopathy 10.1 SHOX FGFR3 FGFR2 FGFR1
39 dysostosis 10.1 IHH FGFR3 FGFR2 FGFR1
40 chondromalacia 10.1 COL2A1 ACAN
41 aplasia of lacrimal and salivary glands 10.0 FGFR2 FGF3
42 mesomelia 10.0
43 larsen syndrome 10.0 TRIP11 FGFR3 COL2A1
44 coxa vara 10.0 COL2A1 COL10A1
45 holoprosencephaly 10.0 IHH FGFR3 FGFR2 FGFR1
46 spondyloperipheral dysplasia 10.0 COL2A1 COL10A1
47 leber hereditary optic neuropathy, modifier of 10.0
48 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 10.0
49 tatton-brown-rahman syndrome 10.0
50 toxic encephalopathy 10.0

Graphical network of the top 20 diseases related to Hypochondroplasia:



Diseases related to Hypochondroplasia

Symptoms & Phenotypes for Hypochondroplasia

Human phenotypes related to Hypochondroplasia:

58 30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002652
2 abnormal form of the vertebral bodies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003312
3 short toe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001831
4 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
5 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
6 childhood onset short-limb short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011405
7 abnormality of femur morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0002823
8 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692
9 genu varum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002970
10 abnormality of the elbow 58 30 Frequent (33%) Frequent (79-30%)
HP:0009811
11 abnormal pelvic girdle bone morphology 30 Frequent (33%) HP:0002644
12 abnormal metaphysis morphology 30 Frequent (33%) HP:0000944
13 macrocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000256
14 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
15 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
16 sleep apnea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010535
17 hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003307
18 spinal canal stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003416
19 osteoarthritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002758
20 acanthosis nigricans 30 Occasional (7.5%) HP:0000956
21 frontal bossing 30 HP:0002007
22 bowing of the long bones 58 Occasional (29-5%)
23 abnormality of the metaphysis 58 Frequent (79-30%)
24 malar flattening 30 HP:0000272
25 abnormality of pelvic girdle bone morphology 58 Frequent (79-30%)
26 lumbar hyperlordosis 30 HP:0002938
27 short long bone 30 HP:0003026
28 limited elbow extension 30 HP:0001377
29 flared metaphysis 30 HP:0003015
30 aplasia/hypoplasia of the extremities 30 HP:0009815

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 8.92 FGFR2
2 Decreased substrate adherent cell growth GR00193-A-3 8.92 FGFR2 FGFR3 NPR2

MGI Mouse Phenotypes related to Hypochondroplasia:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 ACAN COL10A1 COL2A1 FGF18 FGF3 FGF9
2 limbs/digits/tail MP:0005371 10.39 ACAN COL10A1 COL2A1 FGF18 FGF3 FGF9
3 homeostasis/metabolism MP:0005376 10.38 ACAN COL2A1 FGF1 FGF18 FGF9 FGFR1
4 nervous system MP:0003631 10.37 ACAN COL10A1 COL2A1 FGF1 FGF3 FGFR1
5 normal MP:0002873 10.35 ACAN COL2A1 FGF1 FGF3 FGF9 FGFR1
6 digestive/alimentary MP:0005381 10.29 ACAN COL2A1 FGF18 FGF9 FGFR1 FGFR2
7 craniofacial MP:0005382 10.27 ACAN COL10A1 COL2A1 FGF18 FGF9 FGFR1
8 cellular MP:0005384 10.17 COL10A1 COL2A1 FGF18 FGF9 FGFR1 FGFR2
9 endocrine/exocrine gland MP:0005379 10.15 COL10A1 FGF9 FGFR1 FGFR2 IHH NPPC
10 behavior/neurological MP:0005386 10.15 ACAN COL10A1 COL2A1 FGF3 FGF9 FGFR1
11 cardiovascular system MP:0005385 10.14 ACAN COL2A1 FGF18 FGF9 FGFR1 FGFR2
12 hearing/vestibular/ear MP:0005377 10.13 ACAN COL2A1 FGF3 FGF9 FGFR1 FGFR2
13 immune system MP:0005387 10.13 ACAN COL10A1 COL2A1 FGF3 FGFR1 FGFR2
14 no phenotypic analysis MP:0003012 10.11 FGF3 FGFR1 FGFR2 FGFR3 IHH NPR2
15 respiratory system MP:0005388 10.03 ACAN COL2A1 FGF18 FGF9 FGFR2 FGFR3
16 reproductive system MP:0005389 9.85 FGF3 FGF9 FGFR1 FGFR2 FGFR3 FGFR4
17 skeleton MP:0005390 9.8 ACAN COL10A1 COL2A1 FGF18 FGF3 FGF9
18 mortality/aging MP:0010768 9.53 ACAN COL10A1 COL2A1 FGF18 FGF3 FGF9

Drugs & Therapeutics for Hypochondroplasia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 2
2 Hormone Antagonists Phase 2
3 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 Over a Period of 3 Years or 5 Years if Applicable, in Comparison With a Historic Cohort of Non-treated Children With Hypochondroplasia Completed NCT01111019 Phase 2 Recombinant human growth hormone (r-hGH)
2 Open-label, Multicenter, Observational, Non-intervention Study to Retrospectively Evaluate the Efficacy of Norditropin® (Adult Height) in Patients With Achondroplasia/Hypochondroplasia Enrolled in the GH-1941 Study [Follow-up Survey] Completed NCT01435629 somatropin
3 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
4 Local Registry for Data Collection of Patients With Achondroplasia / Hypochondroplasia for Epidemiological, Care and Research Studies Recruiting NCT05328050

Search NIH Clinical Center for Hypochondroplasia

Cochrane evidence based reviews: hypochondroplasia

Genetic Tests for Hypochondroplasia

Genetic tests related to Hypochondroplasia:

# Genetic test Affiliating Genes
1 Hypochondroplasia 28 FGFR3

Anatomical Context for Hypochondroplasia

Organs/tissues related to Hypochondroplasia:

MalaCards : Bone, Temporal Lobe, Occipital Lobe, Bone Marrow, Skin, Pituitary, Lung

Publications for Hypochondroplasia

Articles related to Hypochondroplasia:

(show top 50) (show all 329)
# Title Authors PMID Year
1
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 53 62 24 57 5
16912704 2006
2
Achondroplasia-hypochondroplasia complex in a newborn infant. 53 62 24 57 5
10360392 1999
3
Genotype and phenotype in hypochondroplasia. 53 62 24 57 5
9672519 1998
4
Comparison of clinical-radiological and molecular findings in hypochondroplasia. 53 62 24 57 5
9450868 1998
5
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. 53 62 57 5
10360393 1999
6
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 53 62 57 5
7670477 1995
7
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. 62 57 5
23726269 2013
8
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 62 57 5
18000903 2007
9
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 53 62 24 5
11055896 2000
10
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 62 57 5
10777366 2000
11
A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia. 53 62 24 5
10395236 1998
12
Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association. 53 62 24 5
9842995 1998
13
A common FGFR3 gene mutation in hypochondroplasia. 53 62 24 5
8589686 1995
14
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. 62 57 5
4697848 1973
15
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 62 24 5
25614871 2014
16
Clinical and genetic heterogeneity of hypochondroplasia. 62 24 57
8880574 1996
17
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. 62 24 57
1879059 1991
18
Hypochondroplasia: clinical and radiological aspects in 39 cases. 62 24 57
472320 1979
19
Hypochondroplasia. 62 24 57
5564166 1971
20
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. 53 62 5
17895900 2008
21
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online. 53 62 5
10215410 1998
22
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. 53 62 57
7702086 1995
23
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review. 62 5
30681580 2019
24
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. 62 5
28763161 2017
25
Double heterozygosity in bone growth disorders: four new observations and review. 62 57
12923858 2003
26
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 62 5
12707965 2003
27
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. 53 62 24
12476453 2003
28
Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity. 62 5
10361991 1999
29
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. 62 5
9452043 1998
30
Possible genetic heterogeneity in hypochondroplasia. 62 57
7666407 1995
31
Growth and growth hormone therapy in hypochondroplasia. 62 57
2239275 1990
32
Achondroplasia-hypochondroplasia complex. 62 57
3591840 1987
33
Hypochondroplasia. 62 57
727810 1978
34
Hypochondroplasia. 62 57
1098822 1975
35
Hypochondroplasia. A report of five kindreds. 62 57
5783850 1969
36
p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype. 62 24
31048079 2020
37
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature. 62 24
30762251 2019
38
Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia 62 24
29739731 2018
39
FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation. 62 24
30335613 2018
40
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival. 62 24
29681095 2018
41
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. 62 24
28181399 2017
42
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 5
26380986 2015
43
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 62 24
23165795 2012
44
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. 62 24
22903874 2012
45
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. 62 24
22888019 2012
46
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. 62 24
22137367 2012
47
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases. 62 24
21910223 2011
48
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 62 24
21510009 2010
49
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. 62 24
20453470 2010
50
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 62 24
19622626 2009

Variations for Hypochondroplasia

ClinVar genetic disease variations for Hypochondroplasia:

5 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR3 NM_000142.5(FGFR3):c.1024G>T (p.Gly342Cys) SNV Pathogenic
65826 rs587778775 GRCh37: 4:1805512-1805512
GRCh38: 4:1803785-1803785
2 FGFR3 NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) SNV Pathogenic
16344 rs77722678 GRCh37: 4:1807370-1807370
GRCh38: 4:1805643-1805643
3 FGFR3 NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) SNV Pathogenic
16349 rs77722678 GRCh37: 4:1807370-1807370
GRCh38: 4:1805643-1805643
4 FGFR3 NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) SNV Pathogenic
16356 rs121913114 GRCh37: 4:1803657-1803657
GRCh38: 4:1801930-1801930
5 FGFR3 NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV Pathogenic
Pathogenic
16358 rs121913116 GRCh37: 4:1801122-1801122
GRCh38: 4:1799395-1799395
6 FGFR3 NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys) SNV Pathogenic
16357 rs121913115 GRCh37: 4:1803655-1803655
GRCh38: 4:1801928-1801928
7 FGFR3 NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) SNV Pathogenic
16337 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
8 FGFR3 NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn) SNV Pathogenic
16346 rs28928868 GRCh37: 4:1807891-1807891
GRCh38: 4:1806164-1806164
9 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic
16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
10 FGFR3 NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic
16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
11 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic
Pathogenic
16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
12 FGFR3 NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) SNV Pathogenic
Pathogenic
16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
13 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic
Pathogenic/Likely Pathogenic
16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
14 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic
Not Provided
65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
15 FGFR3 NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) SNV Pathogenic
16328 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
16 FGFR3 NM_000142.5(FGFR3):c.1052C>T (p.Ser351Phe) SNV Pathogenic
649812 rs1057517964 GRCh37: 4:1805540-1805540
GRCh38: 4:1803813-1803813
17 FGFR3 NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) SNV Pathogenic
16341 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
18 FGFR3 NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) SNV Pathogenic/Likely Pathogenic
16345 rs80053154 GRCh37: 4:1807363-1807363
GRCh38: 4:1805636-1805636
19 FGFR3 NM_000142.5(FGFR3):c.1663G>T (p.Val555Leu) SNV Likely Pathogenic
1684537 GRCh37: 4:1807494-1807494
GRCh38: 4:1805767-1805767
20 FGFR3 NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) SNV Likely Pathogenic
16347 rs28928868 GRCh37: 4:1807891-1807891
GRCh38: 4:1806164-1806164
21 FGFR3 NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) SNV Uncertain Significance
16348 rs78311289 GRCh37: 4:1807889-1807889
GRCh38: 4:1806162-1806162
22 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain Significance
465350 rs764892330 GRCh37: 4:1808017-1808017
GRCh38: 4:1806290-1806290
23 FGFR3 NM_000142.5(FGFR3):c.1921_1922delinsAT (p.Asp641Ile) INDEL Uncertain Significance
976408 rs1721879424 GRCh37: 4:1807862-1807863
GRCh38: 4:1806135-1806136
24 FGFR3 NM_000142.5(FGFR3):c.1922A>T (p.Asp641Val) SNV Uncertain Significance
982728 rs1721879680 GRCh37: 4:1807863-1807863
GRCh38: 4:1806136-1806136
25 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain Significance
546226 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
26 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain Significance
521225 rs139773438 GRCh37: 4:1808395-1808395
GRCh38: 4:1806668-1806668
27 FGFR3 NM_000142.5(FGFR3):c.514G>A (p.Val172Ile) SNV Likely Benign
802048 rs529408918 GRCh37: 4:1803162-1803162
GRCh38: 4:1801435-1801435
28 FGFR3 NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) SNV Likely Benign
134404 rs17881656 GRCh37: 4:1806131-1806131
GRCh38: 4:1804404-1804404
29 FGFR3 NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) SNV Likely Benign
134409 rs61735104 GRCh37: 4:1806629-1806629
GRCh38: 4:1804902-1804902
30 FGFR3 NM_000142.5(FGFR3):c.1043C>G (p.Ser348Cys) SNV Not Provided
1526266 GRCh37: 4:1805531-1805531
GRCh38: 4:1803804-1803804
31 FGFR3 NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) SNV Not Provided
585087 rs761325047 GRCh37: 4:1806615-1806615
GRCh38: 4:1804888-1804888

UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:

73
# 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

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 top 50) (show all 60)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 SOX9 IHH FGFR4 FGFR3 FGFR2 FGFR1
2
Show member pathways
13.83 TRIP11 IHH FGFR4 FGFR3 FGFR2 FGFR1
3 13.8 COL2A1 FGF1 FGF18 FGF3 FGF9 FGFR1
4
Show member pathways
13.68 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF3
5
Show member pathways
13.54 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF3
6
Show member pathways
13.52 IHH FGFR4 FGFR3 FGFR2 FGFR1 FGF18
7
Show member pathways
13.43 TRIP11 IHH FGFR4 FGFR3 FGFR2 FGFR1
8
Show member pathways
13.33 NPR2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
9
Show member pathways
13.28 NPR2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
10
Show member pathways
13.26 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
11
Show member pathways
13.14 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
12
Show member pathways
13.12 FGF1 FGF18 FGF3 FGF9 FGFR1 FGFR2
13
Show member pathways
13.06 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
14
Show member pathways
13.02 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF3
15
Show member pathways
12.97 FGF1 FGF18 FGF3 FGF9 FGFR1 FGFR2
16 12.88 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF3
17
Show member pathways
12.8 FGF1 FGF18 FGF3 FGF9 FGFR1 FGFR2
18 12.78 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF3
19
Show member pathways
12.76 FGF1 FGF18 FGFR1 FGFR2 FGFR3 FGFR4
20
Show member pathways
12.75 FGF1 FGF18 FGF3 FGF9 FGFR1 FGFR2
21
Show member pathways
12.66 FGF1 FGF18 FGFR1 FGFR2 FGFR3 FGFR4
22
Show member pathways
12.65 FGF1 FGF18 FGF3 FGF9 FGFR1 FGFR2
23
Show member pathways
12.53 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF3
24
Show member pathways
12.46 FGF1 FGF18 FGF3 FGF9 FGFR1 FGFR2
25 12.45 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF3
26
Show member pathways
12.45 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF3
27
Show member pathways
12.44 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
28
Show member pathways
12.42 FGFR4 FGFR3 FGFR2 FGFR1
29 12.26 FGFR1 FGFR2 FGFR3 FGFR4
30
Show member pathways
12.25 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF3
31
Show member pathways
12.23 FGFR4 FGFR3 FGFR2 FGFR1
32
Show member pathways
12.2 FGFR4 FGFR3 FGFR2 FGFR1
33 12.2 FGFR4 FGFR3 FGFR2 FGFR1 FGF1
34 12.13 FGFR4 FGFR3 FGFR2 FGFR1
35
Show member pathways
12.12 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF3
36 12.04 FGF1 FGF18 FGF3 FGF9 FGFR1 FGFR2
37 12.03 SOX9 FGF3 FGF18
38 12.02 SOX9 FGFR3 FGFR2 FGFR1 COL2A1
39 11.96 FGFR4 FGFR3 FGFR2 FGFR1 FGF1
40 11.95 SOX9 COL2A1 ACAN
41
Show member pathways
11.93 FGFR4 FGFR3 FGFR2 FGFR1
42 11.87 ACAN COL2A1 SOX9
43 11.87 SOX9 FGFR4 FGFR3 FGFR1
44
Show member pathways
11.84 FGFR1 FGF9 FGF1
45 11.84 FGFR4 FGFR3 FGFR2 FGFR1
46 11.8 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
47 11.74 FGFR1 FGFR2 FGFR3
48 11.71 FGFR4 FGFR3 FGFR2 FGFR1 FGF1
49
Show member pathways
11.7 FGFR3 FGF9 FGF18 FGF1
50
Show member pathways
11.66 SOX9 IHH FGFR3 FGFR1 FGF18 COL2A1

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 9.72 NPPC IHH FGFR4 FGFR3 FGFR2 FGFR1
2 extracellular matrix GO:0031012 9.65 IHH FGF1 COL2A1 COL10A1 ACAN

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

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.44 SOX9 FGFR4 FGF9 FGF3 FGF18 FGF1
2 protein phosphorylation GO:0006468 10.35 SOX9 NPR2 FGFR4 FGFR3 FGFR2 FGFR1
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.32 FGF1 FGF18 FGFR2 FGFR3 FGFR4
4 protein autophosphorylation GO:0046777 10.3 FGFR1 FGFR2 FGFR3 FGFR4
5 positive regulation of protein phosphorylation GO:0001934 10.3 SOX9 FGF9 FGF3 FGF18 FGF1
6 positive regulation of cell population proliferation GO:0008284 10.3 SOX9 IHH FGFR4 FGFR3 FGFR2 FGFR1
7 peptidyl-tyrosine phosphorylation GO:0018108 10.27 FGFR4 FGFR3 FGFR2 FGFR1
8 cell-cell signaling GO:0007267 10.27 FGF18 FGF3 FGF9 FGFR2 FGFR3 IHH
9 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.26 FGFR1 FGFR2 FGFR3 FGFR4
10 animal organ morphogenesis GO:0009887 10.24 FGF1 FGF18 FGF3 FGF9 FGFR2
11 regulation of cell migration GO:0030334 10.23 FGF1 FGF18 FGF3 FGF9
12 lung development GO:0030324 10.2 FGF1 FGF18 FGF9 FGFR2
13 positive regulation of kinase activity GO:0033674 10.19 FGFR4 FGFR3 FGFR2 FGFR1
14 inner ear morphogenesis GO:0042472 10.17 FGFR2 FGF9 COL2A1
15 bone mineralization GO:0030282 10.16 SOX9 FGFR3 FGFR2
16 positive regulation of epithelial cell proliferation GO:0050679 10.16 FGF1 FGF9 FGFR2 IHH SOX9
17 epithelial to mesenchymal transition GO:0001837 10.15 SOX9 FGFR2 FGFR1
18 positive regulation of cell division GO:0051781 10.13 FGFR2 FGF9 FGF3 FGF1
19 endochondral ossification GO:0001958 10.1 FGFR3 FGF18 COL2A1
20 cartilage development GO:0051216 10.1 TRIP11 SOX9 IHH COL2A1
21 skeletal system development GO:0001501 10.06 ACAN COL10A1 COL2A1 FGFR1 FGFR3 IHH
22 skeletal system morphogenesis GO:0048705 10.04 FGFR2 FGFR1 COL2A1
23 bone development GO:0060348 10.02 TRIP11 NPR2 FGFR2 COL2A1
24 cGMP biosynthetic process GO:0006182 10.01 NPR2 NPPC
25 notochord development GO:0030903 10.01 SOX9 COL2A1
26 receptor guanylyl cyclase signaling pathway GO:0007168 10.01 NPR2 NPPC
27 positive regulation of mesenchymal cell proliferation GO:0002053 10.01 SOX9 IHH FGFR2 FGF9
28 endochondral bone growth GO:0003416 10 FGFR2 FGFR3
29 proteoglycan metabolic process GO:0006029 10 COL2A1 IHH
30 epithelial cell proliferation GO:0050673 9.99 FGF1 FGF9 SOX9
31 lung-associated mesenchyme development GO:0060484 9.99 FGFR2 FGF9
32 limb bud formation GO:0060174 9.99 SOX9 FGFR2 COL2A1
33 otic vesicle formation GO:0030916 9.98 FGFR2 SOX9
34 lacrimal gland development GO:0032808 9.98 FGFR2 SOX9
35 cartilage condensation GO:0001502 9.98 SOX9 COL2A1 ACAN
36 positive regulation of cGMP-mediated signaling GO:0010753 9.97 NPR2 NPPC
37 ossification GO:0001503 9.97 COL2A1 FGF18 IHH NPPC NPR2 SOX9
38 chondrocyte differentiation GO:0002062 9.96 COL2A1 FGF18 FGF9 FGFR3 IHH SOX9
39 anterior head development GO:0097065 9.95 SOX9 COL2A1
40 positive regulation of phospholipase activity GO:0010518 9.95 FGFR3 FGFR2 FGFR1
41 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.94 FGFR1 FGF18
42 negative regulation of oocyte maturation GO:1900194 9.94 NPR2 NPPC
43 negative regulation of meiotic cell cycle GO:0051447 9.91 NPR2 NPPC
44 chondrocyte differentiation involved in endochondral bone morphogenesis GO:0003413 9.91 TRIP11 SOX9 IHH
45 chondrocyte development GO:0002063 9.88 SOX9 FGF18 ACAN
46 multicellular organism development GO:0007275 9.87 FGFR1 FGFR2 FGFR3 FGFR4
47 otic vesicle development GO:0071599 9.84 COL2A1 SOX9
48 prostate gland morphogenesis GO:0060512 9.8 SOX9 FGFR2
49 reproductive process GO:0022414 9.68 NPPC NPR2
50 fibroblast growth factor receptor signaling pathway GO:0008543 9.53 FGFR4 FGFR3 FGFR2 FGFR1 FGF9 FGF3

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 10.02 FGFR4 FGFR2 FGFR1 FGF9 FGF1
2 growth factor activity GO:0008083 10.01 FGF9 FGF3 FGF18 FGF1
3 protein kinase activity GO:0004672 9.91 NPR2 FGFR4 FGFR3 FGFR2 FGFR1
4 protein tyrosine kinase activity GO:0004713 9.91 FGFR4 FGFR3 FGFR2 FGFR1
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.86 FGFR1 FGFR2 FGFR3 FGFR4
6 fibroblast growth factor receptor binding GO:0005104 9.76 FGF9 FGF3 FGF18 FGF1
7 fibroblast growth factor binding GO:0017134 9.56 FGFR4 FGFR3 FGFR2 FGFR1
8 fibroblast growth factor receptor activity GO:0005007 9.23 FGFR4 FGFR3 FGFR2 FGFR1

Sources for Hypochondroplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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