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HCH
MCID: HYP042
MIFTS: 59

Hypochondroplasia (HCH)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Hypochondroplasia

About this section

MalaCards integrated aliases for Hypochondroplasia:

Name: Hypochondroplasia 57 12 74 25 20 43 58 73 36 29 13 54 6 44 15 39
Hch 57 20 43 73
Hypochondrodysplasia 43

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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity, some patients not linked to fgfr3


HPO:

31
hypochondroplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080041
OMIM® 57 146000
KEGG 36 H02068
MeSH 44 C562937
NCIt 50 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
Sources

Summaries for Hypochondroplasia

About this section
MedlinePlus Genetics : 43 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 skeletal dysplasias and leri-weill dyschondrosteosis. 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.

GARD : 20 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® : 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) (Updated 05-Mar-2021)

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
Sources

Related Diseases for Hypochondroplasia

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

(show top 50) (show all 137)
# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 30.8 NPPC FGFR3 COL2A1
2 leri-weill dyschondrosteosis 30.4 SHOX NPR2 FGFR3
3 achondroplasia 30.3 TK1 SHOX NPPC FGFR3 FGFR2 FGFR1
4 muenke syndrome 30.0 FGFR3 FGFR2 FGFR1
5 acromesomelic dysplasia, maroteaux type 29.8 SHOX NPR2 NPPC FGFR3
6 bone disease 29.5 FGFR3 FGFR2 FGFR1 COL2A1 ACAN
7 acromesomelic dysplasia 29.5 SHOX NPR2 NPPC FGFR3 COL2A1
8 achondroplasia, severe, with developmental delay and acanthosis nigricans 29.2 NPPC FGFR4 FGFR3 FGFR2 FGFR1 FGF1
9 cleft palate, isolated 28.9 IHH FGFR3 FGFR2 FGFR1 FGF3 FGF18
10 brachydactyly 28.9 NPR2 IHH FGFR3 COL2A1 ACAN
11 thanatophoric dysplasia, type i 28.7 TK1 NPR2 NPPC IHH FGFR4 FGFR3
12 craniosynostosis 28.5 NPR2 IHH FGFR4 FGFR3 FGFR2 FGFR1
13 crouzon syndrome 28.1 NPR2 NPPC FGFR4 FGFR3 FGFR2 FGFR1
14 odontochondrodysplasia 26.9 SHOX NPR2 NPPC IHH FGFR4 FGFR3
15 dwarfism 10.4
16 hemifacial hyperplasia 10.3 FGFR3 FGFR2
17 testicular spermatocytic seminoma 10.3 FGFR3 FGFR2
18 dacryocystocele 10.3 FGFR3 FGFR2
19 chronic inflammation of lacrimal passage 10.3 FGFR3 FGFR2
20 luteoma 10.3 FGFR3 FGFR2
21 acanthosis nigricans 10.3
22 fgfr craniosynostosis syndromes 10.2 FGFR3 FGFR2 FGFR1
23 plagiocephaly 10.2 FGFR3 FGFR2 FGFR1
24 acanthoma 10.2 FGFR3 FGFR2
25 syndromic craniosynostosis 10.2 FGFR3 FGFR2 FGFR1
26 hypertelorism, microtia, facial clefting syndrome 10.2 FGFR3 FGFR2 FGFR1
27 paraphimosis 10.2 NPR2 NPPC
28 radioulnar synostosis 10.2 FGFR3 FGFR2 FGFR1
29 antley-bixler syndrome 10.2 FGFR3 FGFR2 FGFR1
30 short stature with nonspecific skeletal abnormalities 10.2 NPR2 IHH
31 epiphyseal chondrodysplasia, miura type 10.2 NPR2 NPPC
32 aplasia of lacrimal and salivary glands 10.2 FGFR2 FGF3
33 saethre-chotzen syndrome 10.2 FGFR3 FGFR2 FGFR1
34 camptodactyly-tall stature-scoliosis-hearing loss syndrome 10.2 NPR2 NPPC FGFR3
35 craniosynostosis 1 10.2 NPR2 FGFR3 FGFR2
36 8p11 myeloproliferative syndrome 10.1 FGFR1 FGF1
37 synovial chondromatosis 10.1 FGFR3 FGFR1 COL2A1
38 pfeiffer syndrome 10.1 FGFR3 FGFR2 FGFR1
39 metaphyseal chondrodysplasia, jansen type 10.1 IHH FGFR3
40 beare-stevenson cutis gyrata syndrome 10.1 FGFR3 FGFR2
41 deafness, autosomal recessive 71 10.1 FGFR3 FGFR2 FGFR1 FGF3
42 chondrodysplasia, grebe type 10.1 NPR2 COL2A1
43 keratomalacia 10.1
44 acrocapitofemoral dysplasia 10.1 NPR2 IHH
45 spinal stenosis 10.1
46 synostosis 10.1 IHH FGFR3 FGFR2 FGFR1
47 rasopathy 10.1 SHOX FGFR3 FGFR2 FGFR1
48 tracheomalacia 10.0 FGF18 COL2A1
49 chromosome 2q35 duplication syndrome 10.0 IHH FGFR3 FGFR2 FGFR1
50 dysostosis 10.0 IHH FGFR3 FGFR2 FGFR1

Graphical network of the top 20 diseases related to Hypochondroplasia:



Diseases related to Hypochondroplasia
Sources

Symptoms & Phenotypes for Hypochondroplasia

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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 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
14 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
15 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
16 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
17 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
18 spinal canal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003416
19 osteoarthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002758
20 acanthosis nigricans 31 occasional (7.5%) HP:0000956
21 frontal bossing 31 HP:0002007
22 bowing of the long bones 58 Occasional (29-5%)
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®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 CCDC8 COL2A1 FGF18 FGF3 FGFR1 FGFR2
2 digestive/alimentary MP:0005381 10.11 COL2A1 FGF18 FGFR1 FGFR2 FGFR3 IHH
3 mortality/aging MP:0010768 10.1 CCDC8 COL2A1 FGF18 FGF3 FGFR1 FGFR2
4 craniofacial MP:0005382 10.08 COL2A1 FGF18 FGFR1 FGFR2 FGFR3 IHH
5 limbs/digits/tail MP:0005371 10.02 COL2A1 FGF18 FGF3 FGFR1 FGFR2 FGFR3
6 hearing/vestibular/ear MP:0005377 9.88 COL2A1 FGF3 FGFR1 FGFR2 FGFR3 FGFR4
7 normal MP:0002873 9.76 COL2A1 FGF1 FGF3 FGFR1 FGFR2 FGFR3
8 no phenotypic analysis MP:0003012 9.73 FGF3 FGFR1 FGFR2 FGFR3 IHH NPR2
9 respiratory system MP:0005388 9.56 COL2A1 FGF18 FGFR2 FGFR3 FGFR4 IHH
10 skeleton MP:0005390 9.32 COL2A1 FGF18 FGF3 FGFR1 FGFR2 FGFR3
Sources

Drugs & Therapeutics for Hypochondroplasia

About this section

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

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 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
3 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

Search NIH Clinical Center for Hypochondroplasia

Cochrane evidence based reviews: hypochondroplasia

Sources

Genetic Tests for Hypochondroplasia

About this section

Genetic tests related to Hypochondroplasia:

# Genetic test Affiliating Genes
1 Hypochondroplasia 29 FGFR3
Sources

Anatomical Context for Hypochondroplasia

About this section

MalaCards organs/tissues related to Hypochondroplasia:

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

Publications for Hypochondroplasia

About this section

Articles related to Hypochondroplasia:

(show top 50) (show all 307)
# 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. 6 25 57 54 61
16912704 2006
2
Achondroplasia-hypochondroplasia complex in a newborn infant. 54 61 25 6 57
10360392 1999
3
Genotype and phenotype in hypochondroplasia. 6 57 61 25 54
9672519 1998
4
Comparison of clinical-radiological and molecular findings in hypochondroplasia. 61 57 6 54 25
9450868 1998
5
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. 61 57 6 54
10360393 1999
6
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 57 6 54 61
7670477 1995
7
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. 57 6 61
23726269 2013
8
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 57 6 61
18000903 2007
9
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 6 25 61 54
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. 61 6 57
10777366 2000
11
A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia. 61 54 25 6
10395236 1998
12
Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association. 25 54 6 61
9842995 1998
13
A common FGFR3 gene mutation in hypochondroplasia. 54 61 6 25
8589686 1995
14
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. 6 57 61
4697848 1973
15
Clinical and genetic heterogeneity of hypochondroplasia. 61 25 57
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. 25 61 57
1879059 1991
17
Hypochondroplasia: clinical and radiological aspects in 39 cases. 61 25 57
472320 1979
18
Hypochondroplasia. 25 57 61
5564166 1971
19
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. 61 54 6
17895900 2008
20
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online. 61 54 6
10215410 1998
21
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. 54 57 61
7702086 1995
22
Double heterozygosity in bone growth disorders: four new observations and review. 57 61
12923858 2003
23
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 61 6
12707965 2003
24
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. 25 54 61
12476453 2003
25
Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity. 61 6
10361991 1999
26
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. 6 61
9452043 1998
27
Possible genetic heterogeneity in hypochondroplasia. 61 57
7666407 1995
28
Growth and growth hormone therapy in hypochondroplasia. 61 57
2239275 1990
29
Achondroplasia-hypochondroplasia complex. 57 61
3591840 1987
30
Hypochondroplasia. 61 57
727810 1978
31
Hypochondroplasia. A report of five kindreds. 61 57
5783850 1969
32
p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype. 61 25
31048079 2020
33
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature. 25 61
30762251 2019
34
Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia 25 61
29739731 2018
35
FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation. 61 25
30335613 2018
36
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival. 61 25
29681095 2018
37
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. 25 61
28181399 2017
38
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 61 25
25614871 2014
39
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 61 25
23165795 2012
40
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. 61 25
22903874 2012
41
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. 25 61
22888019 2012
42
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. 61 25
22137367 2012
43
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases. 61 25
21910223 2011
44
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 25 61
21510009 2010
45
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. 61 25
20453470 2010
46
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 61 25
19622626 2009
47
Limb lengthening in short-stature patients using monolateral and circular external fixators. 25 61
19652235 2009
48
High specificity of head circumference to recognize N540K mutation in hypochondroplasia. 25 61
16418051 2005
49
Pitfall in diagnosing growth hormone deficiency in a hypochondroplastic patient with a delayed puberty. 61 25
12784193 2003
50
The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. 25 61
12733711 2003
Sources

Variations for Hypochondroplasia

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ClinVar genetic disease variations for Hypochondroplasia:

6 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR3 NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) SNV Pathogenic 16344 rs77722678 4:1807370-1807370 4:1805643-1805643
2 FGFR3 NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) SNV Pathogenic 16345 rs80053154 4:1807363-1807363 4:1805636-1805636
3 FGFR3 NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) SNV Pathogenic 16349 rs77722678 4:1807370-1807370 4:1805643-1805643
4 FGFR3 NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) SNV Pathogenic 16356 rs121913114 4:1803657-1803657 4:1801930-1801930
5 FGFR3 NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys) SNV Pathogenic 16357 rs121913115 4:1803655-1803655 4:1801928-1801928
6 FGFR3 NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV Pathogenic 16358 rs121913116 4:1801122-1801122 4:1799395-1799395
7 FGFR3 NM_000142.5(FGFR3):c.1024G>T (p.Gly342Cys) SNV Pathogenic 65826 rs587778775 4:1805512-1805512 4:1803785-1803785
8 FGFR3 NM_000142.5(FGFR3):c.1142T>A (p.Val381Glu) SNV Pathogenic 65829 rs587778776 4:1806123-1806123 4:1804396-1804396
9 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic 65855 rs121913105 4:1807890-1807890 4:1806163-1806163
10 FGFR3 NM_000142.5(FGFR3):c.597C>T (p.His199=) SNV Pathogenic 65880 rs587778801 4:1803245-1803245 4:1801518-1801518
11 FGFR3 NM_000142.5(FGFR3):c.801G>T (p.Leu267=) SNV Pathogenic 65901 rs587778811 4:1803623-1803623 4:1801896-1801896
12 FGFR3 NM_000142.5(FGFR3):c.970C>G (p.Leu324Val) SNV Pathogenic 65915 rs587778816 4:1805458-1805458 4:1803731-1803731
13 FGFR3 NM_000142.5(FGFR3):c.983A>T (p.Asn328Ile) SNV Pathogenic 65916 rs587778817 4:1805471-1805471 4:1803744-1803744
14 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841
15 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic 65855 rs121913105 4:1807890-1807890 4:1806163-1806163
16 FGFR3 NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV Pathogenic 16358 rs121913116 4:1801122-1801122 4:1799395-1799395
17 FGFR3 NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) SNV Pathogenic 16328 rs28931614 4:1806119-1806119 4:1804392-1804392
18 FGFR3 NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) SNV Pathogenic 16337 rs28933068 4:1807371-1807371 4:1805644-1805644
19 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic 16338 rs28933068 4:1807371-1807371 4:1805644-1805644
20 FGFR3 NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn) SNV Pathogenic 16346 rs28928868 4:1807891-1807891 4:1806164-1806164
21 FGFR3 NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) SNV Pathogenic 16347 rs28928868 4:1807891-1807891 4:1806164-1806164
22 FGFR3 NM_000142.5(FGFR3):c.344A>T (p.Gln115Leu) SNV Pathogenic 65526 rs587778769 4:1801215-1801215 4:1799488-1799488
23 FGFR3 NM_000142.5(FGFR3):c.791C>T (p.Thr264Met) SNV Pathogenic 65823 rs587778773 4:1803613-1803613 4:1801886-1801886
24 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic 16332 rs121913482 4:1803564-1803564 4:1801837-1801837
25 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
26 FGFR3 NM_000142.5(FGFR3):c.1138G>A SNV Pathogenic 16327 rs28931614 4:1806119-1806119 4:1804392-1804392
27 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic 16338 rs28933068 4:1807371-1807371 4:1805644-1805644
28 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
29 FGFR3 NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) SNV Uncertain significance 16348 rs78311289 4:1807889-1807889 4:1806162-1806162
30 FGFR3 NM_000142.5(FGFR3):c.1921_1922delinsAT (p.Asp641Ile) Indel Uncertain significance 976408 4:1807862-1807863 4:1806135-1806136
31 FGFR3 NM_000142.5(FGFR3):c.1922A>T (p.Asp641Val) SNV Uncertain significance 982728 4:1807863-1807863 4:1806136-1806136
32 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain significance 546226 rs369232922 4:1801071-1801071 4:1799344-1799344
33 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain significance 465350 rs764892330 4:1808017-1808017 4:1806290-1806290
34 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain significance 521225 rs139773438 4:1808395-1808395 4:1806668-1806668
35 FGFR3 NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) SNV Likely benign 134404 rs17881656 4:1806131-1806131 4:1804404-1804404
36 FGFR3 NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) SNV Likely benign 134409 rs61735104 4:1806629-1806629 4:1804902-1804902
37 FGFR3 NM_000142.4(FGFR3):c.514G>A (p.Val172Ile) SNV Likely benign 802048 rs529408918 4:1803162-1803162 4:1801435-1801435
38 FGFR3 NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) 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

Sources

Expression for Hypochondroplasia

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Search GEO for disease gene expression data for Hypochondroplasia.
Sources

Pathways for Hypochondroplasia

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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 49)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.78 IHH FGFR4 FGFR3 FGFR2 FGFR1 FGF18
2
HIV Life Cycle 65
Show member pathways
 13.67 IHH FGFR4 FGFR3 FGFR2 FGFR1 FGF3
3
Activation of cAMP-Dependent PKA 63
Show member pathways
 13.5 IHH FGFR4 FGFR3 FGFR2 FGFR1 FGF18
4
TGF-Beta Pathway 63
Show member pathways
 13.48 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
5
Developmental Biology 65
Show member pathways
 13.45 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
6
Class I MHC mediated antigen processing and presentation 65
Show member pathways
 13.41 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
7
Cytokine Signaling in Immune system 65
Show member pathways
 13.33 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
8
CREB Pathway 63
Show member pathways
 13.29 NPR2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
9
PAK Pathway 63
Show member pathways
 13.24 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
10
Nanog in Mammalian ESC Pluripotency 63
Show member pathways
 13.24 NPR2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
11
GAB1 signalosome 65
Show member pathways
 13.11 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
12
Phospholipase-C Pathway 63
Show member pathways
 13.06 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
13
p70S6K Signaling 63
Show member pathways
 13.02 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
14
PI3K-Akt signaling pathway 36
Show member pathways
 12.96 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
15
Downstream signaling of activated FGFR2 65
Show member pathways
 12.88 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
16
Pathways in cancer 36
12.85 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
17
MAPK signaling pathway 36 1
12.77 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
18
Gastric cancer 36
Show member pathways
 12.74 FGFR2 FGFR1 FGF3 FGF18 FGF1
19
Ras signaling pathway 36
Show member pathways
 12.74 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
20
NF-KappaB Family Pathway 63
Show member pathways
 12.72 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
21
Downstream signaling events of B Cell Receptor (BCR) 65
Show member pathways
 12.72 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
22
Glioma 36
Show member pathways
 12.65 FGFR2 FGFR1 FGF3 FGF18 FGF1
23
Regulation of actin cytoskeleton 36 1
12.61 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
24
Negative regulation of FGFR1 signaling 65
Show member pathways
 12.55 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
25
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.46 FGFR4 FGFR3 FGFR2 FGFR1
26
VEGF Signaling 66
Show member pathways
 12.46 FGFR4 FGFR3 FGFR2 FGFR1
27
Apoptosis Pathway 70
Show member pathways
 12.41 FGFR4 FGFR3 FGFR2 FGFR1
28
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.4 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
29
RhoGDI Pathway 63
Show member pathways
 12.36 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
30
mTOR signalling 65
Show member pathways
 12.35 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
31
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.3 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
32
Calcium signaling pathway 36
12.29 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
33
Development FGFR signaling pathway 23
Show member pathways
 12.28 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
34
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 12.18 FGFR4 FGFR3 FGFR2 FGFR1
35
Tyrosine Kinases / Adaptors 4
12.18 FGFR4 FGFR3 FGFR2 FGFR1 FGF1
36
Signaling pathways regulating pluripotency of stem cells 36
12.1 FGFR4 FGFR3 FGFR2 FGFR1
37
Signaling by FGFR2 65
Show member pathways
 12.09 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
38
Neural Crest Differentiation 1
11.94 FGFR3 FGFR2 FGFR1 COL2A1
39
Signaling by FGFR2 in disease 65
Show member pathways
 11.9 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
40
Angiogenesis (CST) 4
11.86 FGFR4 FGFR3 FGFR2 FGFR1 FGF1
41
G-protein signaling_RhoA regulation pathway 23
11.77 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
42
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.76 FGFR4 FGFR3 FGFR1
43
Central carbon metabolism in cancer 36
11.7 FGFR3 FGFR2 FGFR1
44
Signaling by activated point mutants of FGFR3 65
Show member pathways
 11.61 FGFR3 FGF18 FGF1
45
FGF signaling pathway 1
11.56 FGFR4 FGFR2 FGFR1 FGF1
46
Alzheimers Disease Pathway 63
11.53 FGFR4 FGFR3 FGFR2 FGFR1
47
Endochondral Ossification 1
11.25 IHH FGFR3 FGFR1 FGF18 COL2A1 ACAN
48
G-protein signaling_Rap2B regulation pathway 23
10.96 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF1
49
Vemurafenib Pathway, Pharmacodynamics 60
10.73 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF1
Sources

GO Terms for Hypochondroplasia

About this section

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 COL2A1 ACAN
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 all 43)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.07 TK1 FGFR4 FGFR3 FGFR2 FGFR1
2 protein phosphorylation GO:0006468 10.06 NPR2 FGFR4 FGFR3 FGFR2 FGFR1
3 multicellular organism development GO:0007275 10.06 SHOX IHH FGFR4 FGFR3 FGFR2 FGFR1
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.92 FGFR4 FGFR3 FGFR2 FGF18
5 positive regulation of cell proliferation GO:0008284 9.92 IHH FGFR4 FGFR3 FGFR2 FGFR1 FGF3
6 protein autophosphorylation GO:0046777 9.89 FGFR4 FGFR3 FGFR2 FGFR1
7 animal organ morphogenesis GO:0009887 9.88 FGFR2 FGF3 FGF18 FGF1
8 cell-cell signaling GO:0007267 9.88 IHH FGFR3 FGFR2 FGF3 FGF18
9 anatomical structure morphogenesis GO:0009653 9.87 FGF3 FGF18 FGF1
10 positive regulation of MAPK cascade GO:0043410 9.85 FGFR3 FGFR2 FGFR1
11 regulation of cell migration GO:0030334 9.84 FGF3 FGF18 FGF1
12 lung development GO:0030324 9.83 FGFR2 FGF18 FGF1
13 peptidyl-tyrosine phosphorylation GO:0018108 9.83 FGFR4 FGFR3 FGFR2 FGFR1
14 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.81 FGFR4 FGFR3 FGFR2 FGFR1
15 positive regulation of epithelial cell proliferation GO:0050679 9.79 IHH FGFR2 FGF1
16 positive regulation of MAP kinase activity GO:0043406 9.78 FGFR1 FGF18 FGF1
17 bone development GO:0060348 9.77 NPR2 FGFR2 COL2A1
18 ossification GO:0001503 9.77 NPR2 NPPC IHH FGF18 COL2A1
19 positive regulation of cell division GO:0051781 9.76 FGFR2 FGF3 FGF1
20 positive regulation of kinase activity GO:0033674 9.73 FGFR4 FGFR3 FGFR2 FGFR1
21 skeletal system development GO:0001501 9.73 SHOX IHH FGFR3 FGFR1 COL2A1 ACAN
22 skeletal system morphogenesis GO:0048705 9.72 FGFR2 FGFR1 COL2A1
23 MAPK cascade GO:0000165 9.7 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
24 positive regulation of mesenchymal cell proliferation GO:0002053 9.69 IHH FGFR2
25 cartilage condensation GO:0001502 9.68 COL2A1 ACAN
26 cGMP-mediated signaling GO:0019934 9.68 NPR2 NPPC
27 chondrocyte development GO:0002063 9.68 FGF18 ACAN
28 embryonic digestive tract morphogenesis GO:0048557 9.67 IHH FGFR2
29 endochondral ossification GO:0001958 9.67 FGFR3 FGF18 COL2A1
30 chondrocyte proliferation GO:0035988 9.66 IHH FGFR3
31 limb bud formation GO:0060174 9.65 FGFR2 COL2A1
32 cGMP biosynthetic process GO:0006182 9.65 NPR2 NPPC
33 receptor guanylyl cyclase signaling pathway GO:0007168 9.64 NPR2 NPPC
34 reproductive process GO:0022414 9.64 NPR2 NPPC
35 endochondral bone growth GO:0003416 9.63 FGFR3 FGFR2
36 positive regulation of cGMP-mediated signaling GO:0010753 9.63 NPR2 NPPC
37 proteoglycan metabolic process GO:0006029 9.62 IHH COL2A1
38 positive regulation of phospholipase activity GO:0010518 9.58 FGFR3 FGFR2 FGFR1
39 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.57 FGFR1 FGF18
40 negative regulation of meiotic cell cycle GO:0051447 9.56 NPR2 NPPC
41 negative regulation of oocyte maturation GO:1900194 9.54 NPR2 NPPC
42 positive regulation of protein kinase B signaling GO:0051897 9.5 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18
43 fibroblast growth factor receptor signaling pathway GO:0008543 9.17 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF18

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.83 TK1 FGFR4 FGFR3 FGFR2 FGFR1
2 protein kinase activity GO:0004672 9.8 NPR2 FGFR4 FGFR3 FGFR2 FGFR1
3 heparin binding GO:0008201 9.67 FGFR4 FGFR2 FGFR1 FGF1
4 protein tyrosine kinase activity GO:0004713 9.62 FGFR4 FGFR3 FGFR2 FGFR1
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.46 FGFR4 FGFR3 FGFR2 FGFR1
6 fibroblast growth factor receptor binding GO:0005104 9.43 FGF3 FGF18 FGF1
7 fibroblast growth factor binding GO:0017134 9.26 FGFR4 FGFR3 FGFR2 FGFR1
8 fibroblast growth factor-activated receptor activity GO:0005007 8.92 FGFR4 FGFR3 FGFR2 FGFR1
Sources

Sources for Hypochondroplasia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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