HCH
MCID: HYP042
MIFTS: 60

Hypochondroplasia (HCH)

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

Aliases & Classifications for Hypochondroplasia

MalaCards integrated aliases for Hypochondroplasia:

Name: Hypochondroplasia 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39
Hch 56 52 25 73
Hypochondrodysplasia 25

Characteristics:

Orphanet epidemiological data:

58
hypochondroplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity, some patients not linked to fgfr3


HPO:

31
hypochondroplasia:
Inheritance autosomal dominant inheritance


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 12 DOID:0080041
OMIM 56 146000
KEGG 36 H02068
MeSH 43 C562937
NCIt 49 C118697
SNOMED-CT 67 205468002
ICD10 32 Q77.4
ICD10 via Orphanet 33 Q77.4
UMLS via Orphanet 72 C0410529
Orphanet 58 ORPHA429
MedGen 41 C0410529
UMLS 71 C0410529

Summaries for Hypochondroplasia

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. 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 achondroplasia and skeletal dysplasias. 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 skeletal dysplasia and abnormal form of the vertebral bodies

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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Hypochondroplasia is an autosomal dominant skeletal dysplasia with rhizomelic short stature. Skeletal features are similar to but milder than those seen in achondroplasia. Mutations in fibroblast growth factor receptor (FGFR3) cause hypochondroplasia.

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

Wikipedia : 74 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 169)
# Related Disease Score Top Affiliating Genes
1 achondroplasia 31.0 TK1 SHOX NPPC FGFR3 FGFR2 FGFR1
2 skeletal dysplasias 30.7 NPPC FGFR3 COMP COL2A1
3 muenke syndrome 30.3 FGFR3 FGFR2 FGFR1
4 acromesomelic dysplasia, maroteaux type 30.0 SHOX NPR2 NPPC FGFR3
5 bone disease 29.9 FGFR3 FGFR2 FGFR1 COMP COL2A1
6 acromesomelic dysplasia 29.6 SHOX NPR2 NPPC FGFR3 COL2A1
7 brachydactyly 29.2 NPR2 IHH FGFR3 COMP COL2A1
8 achondroplasia, severe, with developmental delay and acanthosis nigricans 29.2 NPPC FGFR4 FGFR3 FGFR2 FGFR1 FGF1
9 craniosynostosis 28.9 IHH FGFR4 FGFR3 FGFR2 FGFR1 FGF3
10 cleft palate, isolated 28.6 IHH FGFR3 FGFR2 FGFR1 FGF3 FGF18
11 crouzon syndrome 27.9 NPR2 FGFR4 FGFR3 FGFR2 FGFR1 FGF3
12 thanatophoric dysplasia, type i 27.2 TK1 NPR2 NPPC IHH FGFR4 FGFR3
13 odontochondrodysplasia 25.8 SHOX NPR2 NPPC IHH FOXM1 FGFR4
14 dwarfism 10.6
15 hemifacial hyperplasia 10.4 FGFR3 FGFR2
16 acanthosis nigricans 10.4
17 testicular spermatocytic seminoma 10.4 FGFR3 FGFR2
18 luteoma 10.4 FGFR3 FGFR2
19 dacryocystocele 10.4 FGFR3 FGFR2
20 chronic inflammation of lacrimal passage 10.4 FGFR3 FGFR2
21 acanthoma 10.3 FGFR3 FGFR2
22 corpus callosum lipoma 10.3 SHOX FGFR1
23 cerebral hemisphere lipoma 10.3 SHOX FGFR1
24 fgfr craniosynostosis syndromes 10.3 FGFR3 FGFR2 FGFR1
25 plagiocephaly 10.3 FGFR3 FGFR2 FGFR1
26 paraphimosis 10.3 NPR2 NPPC
27 syndromic craniosynostosis 10.3 FGFR3 FGFR2 FGFR1
28 aplasia of lacrimal and salivary glands 10.3 FGFR3 FGFR2 FGF3
29 epiphyseal chondrodysplasia, miura type 10.3 NPR2 NPPC
30 beare-stevenson cutis gyrata syndrome 10.3 FGFR3 FGFR2
31 hypertelorism, microtia, facial clefting syndrome 10.3 FGFR3 FGFR2 FGFR1
32 short stature with nonspecific skeletal abnormalities 10.3 NPR2 IHH
33 radioulnar synostosis 10.3 FGFR3 FGFR2 FGFR1
34 leri-weill dyschondrosteosis 10.3
35 spinal stenosis 10.3
36 antley-bixler syndrome 10.2 FGFR3 FGFR2 FGFR1
37 saethre-chotzen syndrome 10.2 FGFR3 FGFR2 FGFR1
38 skin tag 10.2 FGFR2 FGFR1
39 pfeiffer syndrome 10.2 FGFR3 FGFR2 FGFR1
40 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.2
41 keratomalacia 10.2
42 lipid metabolism disorder 10.2
43 kidney disease 10.2
44 chronic kidney disease 10.2
45 alacrima, achalasia, and mental retardation syndrome 10.2
46 keratosis 10.2
47 mesomelia 10.2
48 camptodactyly-tall stature-scoliosis-hearing loss syndrome 10.2 NPR2 NPPC FGFR3
49 8p11 myeloproliferative syndrome 10.2 FGFR1 FGF1
50 chondrodysplasia, grebe type 10.2 NPR2 COL2A1

Graphical network of the top 20 diseases related to Hypochondroplasia:



Diseases related to Hypochondroplasia

Symptoms & Phenotypes for Hypochondroplasia

Human phenotypes related to Hypochondroplasia:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
2 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
3 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
4 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
5 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
6 childhood onset short-limb short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0011405
7 abnormality of the metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0000944
8 abnormality of femur morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002823
9 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
10 abnormality of pelvic girdle bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002644
11 genu varum 58 31 frequent (33%) Frequent (79-30%) HP:0002970
12 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
13 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
14 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
15 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
16 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
17 spinal canal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003416
18 osteoarthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002758
19 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
20 acanthosis nigricans 31 occasional (7.5%) HP:0000956
21 bowing of the long bones 58 Occasional (29-5%)
22 frontal bossing 31 HP:0002007
23 malar flattening 31 HP:0000272
24 short long bone 31 HP:0003026
25 limited elbow extension 31 HP:0001377
26 flared metaphysis 31 HP:0003015
27 lumbar hyperlordosis 31 HP:0002938
28 aplasia/hypoplasia of the extremities 31 HP:0009815

Symptoms via clinical synopsis from OMIM:

56
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.35 FGFR1 FGFR2 FGFR3 FGFR4 TK1
2 Decreased substrate adherent cell growth GR00193-A-2 8.92 FGFR2
3 Decreased substrate adherent cell growth GR00193-A-3 8.92 FGFR2 FGFR3 NPR2

MGI Mouse Phenotypes related to Hypochondroplasia:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.26 COL2A1 COMP FGF18 FGF3 FGFR1 FGFR2
2 homeostasis/metabolism MP:0005376 10.23 COL2A1 COMP FGF1 FGF18 FGFR1 FGFR2
3 digestive/alimentary MP:0005381 10.19 COL2A1 FGF18 FGFR1 FGFR2 FGFR3 FOXM1
4 cardiovascular system MP:0005385 10.18 COL2A1 COMP FGF18 FGFR1 FGFR2 FOXM1
5 immune system MP:0005387 10.17 COL2A1 COMP FGF3 FGFR1 FGFR2 FGFR3
6 mortality/aging MP:0010768 10.15 COL2A1 FGF18 FGF3 FGFR1 FGFR2 FGFR3
7 craniofacial MP:0005382 10.11 COL2A1 FGF18 FGFR1 FGFR2 FGFR3 IHH
8 limbs/digits/tail MP:0005371 10.1 COL2A1 COMP FGF18 FGF3 FGFR1 FGFR2
9 normal MP:0002873 9.91 COL2A1 COMP FGF1 FGF3 FGFR1 FGFR2
10 no phenotypic analysis MP:0003012 9.8 FGF3 FGFR1 FGFR2 FGFR3 IHH NPR2
11 reproductive system MP:0005389 9.76 FGF3 FGFR1 FGFR2 FGFR3 FGFR4 NPPC
12 respiratory system MP:0005388 9.61 COL2A1 FGF18 FGFR2 FGFR3 FGFR4 FOXM1
13 skeleton MP:0005390 9.36 COL2A1 COMP FGF18 FGF3 FGFR1 FGFR2

Drugs & Therapeutics for Hypochondroplasia

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


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

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 Vosoritide for Selected Genetic Causes of Short Stature Recruiting NCT04219007 Phase 2 Vosoritide
3 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
4 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
5 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754

Search NIH Clinical Center for Hypochondroplasia

Cochrane evidence based reviews: hypochondroplasia

Genetic Tests for Hypochondroplasia

Genetic tests related to Hypochondroplasia:

# Genetic test Affiliating Genes
1 Hypochondroplasia 29 FGFR3

Anatomical Context for Hypochondroplasia

MalaCards organs/tissues related to Hypochondroplasia:

40
Bone, Temporal Lobe, Skin, Occipital Lobe, Bone Marrow, Brain, Lung

Publications for Hypochondroplasia

Articles related to Hypochondroplasia:

(show top 50) (show all 300)
# 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. 54 61 24 56 6
16912704 2006
2
Achondroplasia-hypochondroplasia complex in a newborn infant. 61 54 56 6 24
10360392 1999
3
Genotype and phenotype in hypochondroplasia. 61 6 24 56 54
9672519 1998
4
Comparison of clinical-radiological and molecular findings in hypochondroplasia. 6 56 24 61 54
9450868 1998
5
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. 54 61 6 56
10360393 1999
6
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 54 61 6 56
7670477 1995
7
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. 6 61 56
23726269 2013
8
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 61 56 6
18000903 2007
9
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 61 54 24 6
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. 6 56 61
10777366 2000
11
A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia. 6 54 24 61
10395236 1998
12
Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association. 61 6 24 54
9842995 1998
13
A common FGFR3 gene mutation in hypochondroplasia. 61 24 54 6
8589686 1995
14
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. 6 56 61
4697848 1973
15
Clinical and genetic heterogeneity of hypochondroplasia. 56 24 61
8880574 1996
16
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. 24 56 61
1879059 1991
17
Hypochondroplasia: clinical and radiological aspects in 39 cases. 24 56 61
472320 1979
18
Hypochondroplasia. 61 56 24
5564166 1971
19
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. 54 61 6
17895900 2008
20
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online. 6 54 61
10215410 1998
21
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. 56 54 61
7702086 1995
22
Double heterozygosity in bone growth disorders: four new observations and review. 56 61
12923858 2003
23
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 6 61
12707965 2003
24
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. 61 54 24
12476453 2003
25
Hypochondroplasia 61 6
20301650 1999
26
Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity. 61 6
10361991 1999
27
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. 61 6
9452043 1998
28
Possible genetic heterogeneity in hypochondroplasia. 61 56
7666407 1995
29
Growth and growth hormone therapy in hypochondroplasia. 56 61
2239275 1990
30
Achondroplasia-hypochondroplasia complex. 61 56
3591840 1987
31
Hypochondroplasia. 61 56
727810 1978
32
Hypochondroplasia. A report of five kindreds. 56 61
5783850 1969
33
p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype. 24 61
31048079 2020
34
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature. 61 24
30762251 2019
35
Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia 61 24
29739731 2018
36
FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation. 24 61
30335613 2018
37
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival. 61 24
29681095 2018
38
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. 61 24
28181399 2017
39
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 24 61
25614871 2014
40
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 24 61
23165795 2012
41
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. 24 61
22903874 2012
42
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. 24 61
22888019 2012
43
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. 61 24
22137367 2012
44
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases. 24 61
21910223 2011
45
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 61 24
21510009 2010
46
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. 24 61
20453470 2010
47
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 24 61
19622626 2009
48
Limb lengthening in short-stature patients using monolateral and circular external fixators. 61 24
19652235 2009
49
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. 24 61
16418051 2005
50
Pitfall in diagnosing growth hormone deficiency in a hypochondroplastic patient with a delayed puberty. 24 61
12784193 2003

Variations for Hypochondroplasia

ClinVar genetic disease variations for Hypochondroplasia:

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR3 NM_001163213.1(FGFR3):c.835A>T (p.Ser279Cys)SNV Pathogenic 16356 rs121913114 4:1803657-1803657 4:1801930-1801930
2 FGFR3 NM_001163213.1(FGFR3):c.833A>G (p.Tyr278Cys)SNV Pathogenic 16357 rs121913115 4:1803655-1803655 4:1801928-1801928
3 FGFR3 NM_001163213.1(FGFR3):c.251C>T (p.Ser84Leu)SNV Pathogenic 16358 rs121913116 4:1801122-1801122 4:1799395-1799395
4 FGFR3 NM_001163213.1(FGFR3):c.344A>T (p.Gln115Leu)SNV Pathogenic 65526 rs587778769 4:1801215-1801215 4:1799488-1799488
5 NP_000133.1(FGFR3):p.Gly65Argprotein only Pathogenic 65527
6 FGFR3 NM_001163213.1(FGFR3):c.791C>T (p.Thr264Met)SNV Pathogenic 65823 rs587778773 4:1803613-1803613 4:1801886-1801886
7 FGFR3 NM_001163213.1(FGFR3):c.1082-545G>TSNV Pathogenic 65826 rs587778775 4:1805512-1805512 4:1803785-1803785
8 FGFR3 NM_001163213.1(FGFR3):c.1148T>A (p.Val383Glu)SNV Pathogenic 65829 rs587778776 4:1806123-1806123 4:1804396-1804396
9 FGFR3 NM_001163213.1(FGFR3):c.1955A>C (p.Lys652Thr)SNV Pathogenic 65855 rs121913105 4:1807890-1807890 4:1806163-1806163
10 FGFR3 NM_001163213.1(FGFR3):c.1082-586A>TSNV Pathogenic 65916 rs587778817 4:1805471-1805471 4:1803744-1803744
11 FGFR3 NM_001163213.1(FGFR3):c.597C>T (p.His199=)SNV Pathogenic 65880 rs587778801 4:1803245-1803245 4:1801518-1801518
12 NM_000142.4:c.783A>CSNV Pathogenic 65900
13 FGFR3 NM_001163213.1(FGFR3):c.801G>T (p.Leu267=)SNV Pathogenic 65901 rs587778811 4:1803623-1803623 4:1801896-1801896
14 FGFR3 NM_001163213.1(FGFR3):c.1082-599C>GSNV Pathogenic 65915 rs587778816 4:1805458-1805458 4:1803731-1803731
15 FGFR3 NM_001163213.1(FGFR3):c.1144G>C (p.Gly382Arg)SNV Pathogenic 16328 rs28931614 4:1806119-1806119 4:1804392-1804392
16 FGFR3 NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys)SNV Pathogenic 16332 rs121913482 4:1803564-1803564 4:1801837-1801837
17 FGFR3 NM_001163213.1(FGFR3):c.1626C>A (p.Asn542Lys)SNV Pathogenic 16337 rs28933068 4:1807371-1807371 4:1805644-1805644
18 FGFR3 NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys)SNV Pathogenic 16338 rs28933068 4:1807371-1807371 4:1805644-1805644
19 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys)SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841
20 FGFR3 NM_001163213.1(FGFR3):c.1625A>C (p.Asn542Thr)SNV Pathogenic 16344 rs77722678 4:1807370-1807370 4:1805643-1805643
21 FGFR3 NM_001163213.1(FGFR3):c.1618A>G (p.Ile540Val)SNV Pathogenic 16345 rs80053154 4:1807363-1807363 4:1805636-1805636
22 FGFR3 NM_001163213.1(FGFR3):c.1956G>T (p.Lys652Asn)SNV Pathogenic 16346 rs28928868 4:1807891-1807891 4:1806164-1806164
23 FGFR3 NM_001163213.1(FGFR3):c.1956G>C (p.Lys652Asn)SNV Pathogenic 16347 rs28928868 4:1807891-1807891 4:1806164-1806164
24 FGFR3 NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic/Likely pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
25 FGFR3 NM_001163213.1(FGFR3):c.1954A>C (p.Lys652Gln)SNV Conflicting interpretations of pathogenicity 16348 rs78311289 4:1807889-1807889 4:1806162-1806162
26 FGFR3 NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg)SNV Conflicting interpretations of pathogenicity 16327 rs28931614 4:1806119-1806119 4:1804392-1804392
27 FGFR3 NM_001163213.1(FGFR3):c.1625A>G (p.Asn542Ser)SNV Uncertain significance 16349 rs77722678 4:1807370-1807370 4:1805643-1805643
28 FGFR3 NM_001163213.1(FGFR3):c.1999G>T (p.Ala667Ser)SNV Uncertain significance 465350 rs764892330 4:1808017-1808017 4:1806290-1806290
29 FGFR3 NM_001163213.1(FGFR3):c.2159A>G (p.Asn720Ser)SNV Uncertain significance 521225 rs139773438 4:1808395-1808395 4:1806668-1806668
30 FGFR3 NM_001163213.1(FGFR3):c.200G>A (p.Gly67Asp)SNV Uncertain significance 546226 rs369232922 4:1801071-1801071 4:1799344-1799344
31 FGFR3 NM_001163213.1(FGFR3):c.514G>A (p.Val172Ile)SNV Likely benign 802048 4:1803162-1803162 4:1801435-1801435
32 FGFR3 NM_001163213.1(FGFR3):c.1156T>C (p.Phe386Leu)SNV Benign/Likely benign 134404 rs17881656 4:1806131-1806131 4:1804404-1804404
33 FGFR3 NM_001163213.1(FGFR3):c.1351C>T (p.Pro451Ser)SNV Benign/Likely benign 134409 rs61735104 4:1806629-1806629 4:1804902-1804902
34 FGFR3 NM_001163213.1(FGFR3):c.1337C>T (p.Ser446Phe)SNV not provided 585087 rs761325047 4:1806615-1806615 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 KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Ras signaling pathway hsa04014
3 Rap1 signaling pathway hsa04015
4 PI3K-Akt signaling pathway hsa04151
5 Regulation of actin cytoskeleton hsa04810

Pathways related to Hypochondroplasia according to GeneCards Suite gene sharing:

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 IHH FGFR4 FGFR3 FGFR2 FGFR1 FGF18
2
Show member pathways
13.66 IHH FGFR4 FGFR3 FGFR2 FGFR1 FGF3
3
Show member pathways
13.5 IHH FGFR4 FGFR3 FGFR2 FGFR1 FGF18
4
Show member pathways
13.48 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
5
Show member pathways
13.44 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
6
Show member pathways
13.4 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
7
Show member pathways
13.32 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
8
Show member pathways
13.28 NPR2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
9
Show member pathways
13.24 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
10
Show member pathways
13.24 NPR2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
11
Show member pathways
13.11 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
12
Show member pathways
13.06 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
13
Show member pathways
13.01 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
14
Show member pathways
12.86 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
15 12.83 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
16
Show member pathways
12.81 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
17 12.75 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
18
Show member pathways
12.73 FGFR2 FGFR1 FGF3 FGF18 FGF1
19
Show member pathways
12.71 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
20
Show member pathways
12.71 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
21
Show member pathways
12.69 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
22
Show member pathways
12.64 FGFR2 FGFR1 FGF3 FGF18 FGF1
23 12.59 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
24
Show member pathways
12.51 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
25
Show member pathways
12.45 FGFR4 FGFR3 FGFR2 FGFR1
26
Show member pathways
12.45 FGFR4 FGFR3 FGFR2 FGFR1
27
Show member pathways
12.4 FGFR4 FGFR3 FGFR2 FGFR1
28
Show member pathways
12.4 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
29
Show member pathways
12.33 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
30
Show member pathways
12.31 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
31
Show member pathways
12.29 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
32
Show member pathways
12.21 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
33
Show member pathways
12.18 FGFR4 FGFR3 FGFR2 FGFR1
34 12.16 FGFR4 FGFR3 FGFR2 FGFR1 FGF1
35 12.09 FGFR4 FGFR3 FGFR2 FGFR1
36
Show member pathways
11.99 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
37 11.94 FGFR3 FGFR2 FGFR1 COL2A1
38 11.84 FGFR4 FGFR3 FGFR2 FGFR1 FGF1
39 11.77 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
40 11.75 FGFR4 FGFR3 FGFR1
41
Show member pathways
11.7 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
42 11.69 FGFR3 FGFR2 FGFR1
43 11.64 IHH FGFR3 FGFR1 FGF18 COL2A1
44
Show member pathways
11.6 FGFR3 FGF18 FGF1
45 11.54 FGFR4 FGFR2 FGFR1 FGF1
46 11.5 FGFR4 FGFR3 FGFR2 FGFR1
47 11.03 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
48 10.73 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF1

GO Terms for Hypochondroplasia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.46 IHH FGF1 COMP COL2A1
2 extracellular region GO:0005576 9.36 NPPC IHH FGFR4 FGFR3 FGFR2 FGFR1
3 receptor complex GO:0043235 9.26 FGFR4 FGFR3 FGFR2 FGFR1

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

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.1 TK1 FGFR4 FGFR3 FGFR2 FGFR1
2 protein phosphorylation GO:0006468 10.1 NPR2 FGFR4 FGFR3 FGFR2 FGFR1
3 multicellular organism development GO:0007275 10.1 SHOX IHH FGFR4 FGFR3 FGFR2 FGFR1
4 regulation of gene expression GO:0010468 10.01 IHH FGFR1 COMP COL2A1
5 angiogenesis GO:0001525 9.99 FGFR2 FGFR1 FGF18 FGF1
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.97 FGFR4 FGFR3 FGFR2 FGF18
7 protein autophosphorylation GO:0046777 9.94 FGFR4 FGFR3 FGFR2 FGFR1
8 cell-cell signaling GO:0007267 9.92 IHH FGFR3 FGFR2 FGF3 FGF18
9 anatomical structure morphogenesis GO:0009653 9.89 FGF3 FGF18 FGF1
10 positive regulation of MAPK cascade GO:0043410 9.88 FGFR3 FGFR2 FGFR1
11 peptidyl-tyrosine phosphorylation GO:0018108 9.88 FGFR4 FGFR3 FGFR2 FGFR1
12 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.87 FGFR4 FGFR3 FGFR2 FGFR1
13 MAPK cascade GO:0000165 9.87 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
14 cartilage development GO:0051216 9.85 IHH COMP COL2A1
15 skeletal system development GO:0001501 9.85 SHOX IHH FGFR3 FGFR1 COMP COL2A1
16 inner ear morphogenesis GO:0042472 9.84 FGFR2 FGFR1 COL2A1
17 positive regulation of epithelial cell proliferation GO:0050679 9.83 IHH FGFR2 FGF1
18 positive regulation of MAP kinase activity GO:0043406 9.83 FGFR1 FGF18 FGF1
19 bone development GO:0060348 9.82 NPR2 FGFR2 COL2A1
20 positive regulation of cell division GO:0051781 9.81 FGFR2 FGF3 FGF1
21 skeletal system morphogenesis GO:0048705 9.81 FGFR2 FGFR1 COL2A1
22 lung development GO:0030324 9.81 FGFR2 FGFR1 FGF18 FGF1
23 positive regulation of cell proliferation GO:0008284 9.81 IHH FOXM1 FGFR4 FGFR3 FGFR2 FGFR1
24 chondrocyte differentiation GO:0002062 9.8 FGFR3 FGFR1 COL2A1
25 bone mineralization GO:0030282 9.8 FGFR3 FGFR2 COMP
26 positive regulation of kinase activity GO:0033674 9.78 FGFR4 FGFR3 FGFR2 FGFR1
27 bone morphogenesis GO:0060349 9.76 FGFR3 FGFR2 COMP
28 endochondral ossification GO:0001958 9.73 FGFR3 FGF18 COL2A1
29 ossification GO:0001503 9.73 NPR2 NPPC IHH FGF18 COMP COL2A1
30 cGMP-mediated signaling GO:0019934 9.72 NPR2 NPPC
31 chondrocyte development GO:0002063 9.71 FGF18 COMP
32 embryonic digestive tract morphogenesis GO:0048557 9.71 IHH FGFR2
33 positive regulation of mesenchymal cell proliferation GO:0002053 9.71 IHH FGFR2 FGFR1
34 branching involved in salivary gland morphogenesis GO:0060445 9.7 FGFR2 FGFR1
35 limb bud formation GO:0060174 9.7 FGFR2 COL2A1
36 cGMP biosynthetic process GO:0006182 9.69 NPR2 NPPC
37 organ induction GO:0001759 9.69 FGFR1 FGF1
38 mesenchymal cell differentiation GO:0048762 9.68 FGFR2 FGFR1
39 reproductive process GO:0022414 9.68 NPR2 NPPC
40 receptor guanylyl cyclase signaling pathway GO:0007168 9.68 NPR2 NPPC
41 lung-associated mesenchyme development GO:0060484 9.67 FGFR2 FGFR1
42 proteoglycan metabolic process GO:0006029 9.67 IHH COL2A1
43 positive regulation of cGMP-mediated signaling GO:0010753 9.65 NPR2 NPPC
44 chondrocyte proliferation GO:0035988 9.63 IHH FGFR3 COMP
45 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.62 FGFR1 FGF18
46 negative regulation of meiotic cell cycle GO:0051447 9.61 NPR2 NPPC
47 orbitofrontal cortex development GO:0021769 9.61 FGFR2 FGFR1
48 positive regulation of phospholipase activity GO:0010518 9.61 FGFR3 FGFR2 FGFR1
49 negative regulation of oocyte maturation GO:1900194 9.6 NPR2 NPPC
50 ventricular zone neuroblast division GO:0021847 9.59 FGFR2 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.85 TK1 FGFR4 FGFR3 FGFR2 FGFR1
2 protein kinase activity GO:0004672 9.8 NPR2 FGFR4 FGFR3 FGFR2 FGFR1
3 protein tyrosine kinase activity GO:0004713 9.67 FGFR4 FGFR3 FGFR2 FGFR1
4 heparin binding GO:0008201 9.65 FGFR4 FGFR2 FGFR1 FGF1 COMP
5 fibroblast growth factor receptor binding GO:0005104 9.5 FGF3 FGF18 FGF1
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.46 FGFR4 FGFR3 FGFR2 FGFR1
7 proteoglycan binding GO:0043394 9.43 COMP COL2A1
8 fibroblast growth factor binding GO:0017134 9.26 FGFR4 FGFR3 FGFR2 FGFR1
9 fibroblast growth factor-activated receptor activity GO:0005007 8.92 FGFR4 FGFR3 FGFR2 FGFR1

Sources for Hypochondroplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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