| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 20 (21.2%) |
29736252 (5933720) |
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia. Takahashi I, Kondo D, Oyama C, Yano T, Tamura H, Noguchi A, Takahashi T. Hum Genome Var. 2018;5:1. |
| Skeletal dysplasia | ||
| FGFR3 | ||
| c|SUB|A|805|T p|SUB|S|269|C | ||
| 20 (21.2%) |
28763161 |
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. Porntaveetus T, Srichomthong C, Suphapeetiporn K, Shotelersuk V. Am J Med Genet A. 2017;173(10):2747-2752. |
| Skeletal dysplasia | ||
| ALPL FGFR3 | ||
| c|SUB|C|1460|T c|SUB|C|1479|A p|SUB|A|487|V p|SUB|I|538|V;RS#:80053154 p|SUB|N|493|K rs1229517379 | ||
| Alkaline Phosphatase Alleles Bone and Bones Child Dwarfism Females Homo sapiens Hypophosphatasia Limb Deformities, Congenital Lordosis Mutation Thailand | ||
| 20 (21.2%) |
28181399 |
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM. Am J Med Genet A. 2017;173(4):1097-1101. |
| Acanthosis nigricans Skeletal dysplasia | ||
| FGFR3 | ||
| c|SUB|C|1172|A;RS#:28931615 p|SUB|A|391|E;RS#:28931615 p|SUB|K|650|T;RS#:121913105 p|SUB|S|348|C | ||
| Acanthosis Nigricans Achondroplasia Bone and Bones Child DNA Mutational Analysis Dwarfism Gene Expression Homo sapiens Limb Deformities, Congenital Lordosis Male Phenotype Point Mutation | ||
| 20 (21.2%) |
25119967 |
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. Farmakis SG, Shinawi M, Miller-Thomas M, Radmanesh A, Herman TE. Skeletal Radiol. 2015;44(3):441-5. |
| Acanthosis nigricans Skeletal dysplasia | ||
| FGFR3 | ||
| p|SUB|K|650|M;RS#:121913105 | ||
| Achondroplasia Females Genetic Predisposition to Disease Homo sapiens Infant Mutation Single Nucleotide Polymorphism | ||
| 20 (21.2%) |
24839128 |
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. Cesaretti C, Spaccini L, Rustico M, Parazzini C, Doneda C, Re TJ, Righini A. Prenat Diagn. 2014;34(10):1015-7. |
| Skeletal dysplasia | ||
| FGFR3 | ||
| Adult Bone and Bones Dwarfism Females Hippocampus Proper Homo sapiens Limb Deformities, Congenital Lordosis Magnetic Resonance Imaging Pregnancy Temporal Lobe | ||
| 20 (21.2%) |
24630288 |
Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome? Romeo A, Lodi M, Viri M, Parente E, Baldi M, Righini A, Milani D. Pediatr Neurol. 2014;50(4):427-30. |
| Seizure Skeletal dysplasia | ||
| FGFR3 | ||
| p|SUB|N|540|K;RS#:28933068 | ||
| Bone and Bones Brain Dwarfism Electroencephalography Epilepsies, Partial Females Homo sapiens Infant Limb Deformities, Congenital Lordosis Magnetic Resonance Imaging Mutation Syndrome Temporal Lobe Video Recording | ||
| 20 (21.2%) |
23614116 (3630293) |
Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K). Park KE, Kim SA, Kang MJ, Kim HS, Cho SI, Yoo KW, Kim SY, Lee HJ, Oh SK, Seong MW, Ku SY, Jun JK, Park SS, Choi YM, Moon SY. Clin Exp Reprod Med. 2013;40(1):42-6. |
| Skeletal dysplasia | ||
| c|SUB|C|1620|A;RS#:28933068 p|SUB|N|540|K;RS#:28933068 | ||
| 20 (21.2%) |
23149434 (3537291) |
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. Korkmaz HA, Hazan F, Dizdarer C, Tukun A. J Clin Res Pediatr Endocrinol. 2012;4(4):220-2. |
| Skeletal dysplasia | ||
| FGFR3 | ||
| c|SUB|C|1620|G;RS#:28933068 p|SUB|N|540|K;RS#:28933068 rs28933068 | ||
| Amino Acid Substitution Bone and Bones Child Development Child, Preschool Dwarfism Exons Females Heterozygote Homo sapiens Limb Deformities, Congenital Lordosis Mutation | ||
| 20 (21.2%) |
22888019 |
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. Bober MB, Taylor M, Heinle R, Mackenzie W. Am J Med Genet A. 2012;158A(9):2336-41. |
| Hypoglycemia Skeletal dysplasia | ||
| FGFR3 | ||
| p|SUB|G|380|R;RS#:28931614 p|SUB|N|540|K;RS#:28933068 | ||
| Achondroplasia Females Homo sapiens Infant, Newborn Lung Mutation | ||
| 20 (21.2%) |
22038757 |
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. Barroso E, Perez-Carrizosa V, Garcia-Recuero I, Glucksman MJ, Wilkie AO, Garcia-Minaur S, Heath KE. Am J Med Genet A. 2011;155A(12):3050-3. |
| Acanthosis nigricans Skeletal dysplasia | ||
| FGF1 FGFR1 FGFR2 FGFR3 | ||
| p|SUB|A|334|T;RS#:373496046 p|SUB|A|391|E;RS#:28931615 p|SUB|P|250|L p|SUB|P|250|R;RS#:4647924 rs373496046 | ||
| Amino Acid Substitution Child, Preschool Craniosynostosis Exons Homo sapiens Infant Infant, Newborn Male Mutation Phenotype |
Total: 20
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001831 | Short toe | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0011405 | Childhood onset short-limb short stature | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Frequent (79-30%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Frequent (79-30%) |
| HP:0002823 | Abnormality of femur morphology | Frequent (79-30%) |
| HP:0002970 | Genu varum | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0009811 | Abnormality of the elbow | Frequent (79-30%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002758 | Osteoarthritis | Occasional (29-5%) |
| HP:0003307 | Hyperlordosis | Occasional (29-5%) |
| HP:0003416 | Spinal canal stenosis | Occasional (29-5%) |
| HP:0006487 | Bowing of the long bones | Occasional (29-5%) |
| HP:0010535 | Sleep apnea | Occasional (29-5%) |
Total: 20
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 22 |
| HP:0004322 | Short stature | 10 |
| HP:0000956 | Acanthosis nigricans | 6 |
| HP:0000256 | Macrocephaly | 2 |
| HP:0000842 | Hyperinsulinemia | 1 |
| HP:0001258 | Spastic paraplegia | 1 |
| HP:0001943 | Hypoglycemia | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002655 | Spondyloepiphyseal dysplasia | 1 |
| HP:0002676 | Cloverleaf skull | 1 |
| HP:0002762 | Multiple exostoses | 1 |
| HP:0003026 | Short long bone | 1 |
| HP:0005716 | Lethal skeletal dysplasia | 1 |
| HP:0005758 | Basilar impression | 1 |
| HP:0008480 | Cervical spondylosis | 1 |
| HP:0010781 | Skin dimple | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0012378 | Fatigue | 1 |
| HP:0100255 | Metaphyseal dysplasia | 1 |