| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (51.6%) |
24934387 |
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake N. Am J Med Genet A. 2014;164A(9):2398-402. |
| Small nail Short thumb | ||
| HOXA13 TRIO | ||
| c|SUB|A|1102|T p|SUB|I|368|F | ||
| Amino Acid Sequence Base Sequence Child Congenital Foot Deformity Congenital Hand Deformities Females Genetic Predisposition to Disease Homeodomain Proteins Homo sapiens Infant Infant, Newborn Molecular Sequence Data Mutation Urogenital Abnormalities | ||
| 2 (35.4%) |
27272187 (4896502) |
A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. Watson CM, Crinnion LA, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Bonthron DT, Sheridan E. PLoS One. 2016;11(6):e0157075. |
| Syndactyly Finger clinodactyly | ||
| HOXA13 | ||
| Chromosome Breakpoints Chromosomes, Human, Pair 7 Congenital Foot Deformity Congenital Hand Deformities Females High-Throughput Nucleotide Sequencing Homeodomain Proteins Homo sapiens Infant, Newborn Sequence Analysis, DNA Urogenital Abnormalities | ||
| 3 (35.3%) |
26590955 |
Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C. Am J Med Genet A. 2016;170(3):717-24. |
| Brachydactyly | ||
| HOXA13 NRXN1 | ||
| c|SUB|G|1123|T p|SUB|V|375|F | ||
| Calcium-Binding Proteins Cell Adhesion Molecules, Neuronal Child, Preschool Computational Biology Congenital Foot Deformity Congenital Hand Deformities DNA Copy Number Variations DNA Mutational Analysis Developmental Disabilities Exome High-Throughput Nucleotide Sequencing Homeodomain Proteins Homo sapiens Male Mutation Nerve Tissue Proteins Neural Cell Adhesion Molecules Phenotype Single Nucleotide Polymorphism Urogenital Abnormalities | ||
| 4 (33.7%) |
29177010 (5688765) |
7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype. Yokoyama E, Smith-Pellegrin DL, Sanchez S, Molina B, Rodriguez A, Juarez R, Lieberman E, Avila S, Castrillo JL, Del Castillo V, Frias S. Mol Cytogenet. 2017;10:42. |
| Long philtrum | ||
| CDKN2B HOXA13 | ||
| 5 (31.0%) |
21549968 |
Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome. Parker L, Mangwani J, Wakeling E, Singh D. Foot Ankle Surg. 2011;17(2):e28-30. |
| Hallux valgus | ||
| HOXA13 | ||
| Congenital Foot Deformity Congenital Hand Deformities Females Hallux Valgus Homeodomain Proteins Homo sapiens Missense Mutation Molecular Sequence Data Syndrome Urogenital Abnormalities | ||
| 5 (31.0%) |
10364522 |
Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W. Am J Hum Genet. 1999;65(1):104-10. |
| Syndactyly | ||
| HOXA13 HOXA@ HOXB@ HOXD13 HOXD3 HOXD@ | ||
| Child, Preschool Chromosomes, Human, Pair 2 DNA-Binding Proteins Gene Deletion Gene Dosage Genetic Markers Homeodomain Proteins Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Male Genital Organs Molecular Sequence Data Multigene Family | ||
| 5 (31.0%) |
8484413 |
Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias. Guttmacher AE. Am J Med Genet. 1993;46(2):219-22. |
| Hypospadias Postaxial polydactyly | ||
| Adult Child, Preschool Females Fingers Genes, Dominant Homo sapiens Hypospadias Infant Male Syndrome Toes | ||
| 5 (31.0%) |
2349017 |
Hand-foot-genital syndrome: the importance of hallux varus. Cleveland RH, Holmes LB. Pediatr Radiol. 1990;20(5):339-43. |
| Hallux varus | ||
| Congenital Foot Deformity Congenital Hand Deformities Females Genitalia Homo sapiens Infant, Newborn Male Syndrome | ||
| 9 (23.3%) |
3772265 |
The hand-foot-uterus syndrome: a case study. Longmuir GA, Conley RN, Nicholson DL, Whitehead M. J Manipulative Physiol Ther. 1986;9(3):213-7. |
| Anemia Spinal deformities | ||
| Congenital Foot Deformity Congenital Hand Deformities Females Foot Hand Homo sapiens Middle Aged Syndrome Uterus | ||
| 10 (4.0%) |
27649277 |
Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability. Tas E, Sebastian J, Madan-Khetarpal S, Sweet P, Yatsenko AN, Pollock N, Rajkovic A, Schneck FX, Yatsenko SA, Witchel SF. Am J Med Genet A. 2017;173(1):221-224. |
| Penoscrotal hypospadias | ||
| EVX1 HOXA11 HOXA13 HOXA2 HOXA3 HOXA5 SKAP2 | ||
| Chromosomes, Human, Pair 7 Congenital Foot Deformity Congenital Hand Deformities Genetic Association Studies Homeodomain Proteins Homo sapiens Infant Male Oligonucleotide Array Sequence Analysis Phenotype Sequence Deletion Single Nucleotide Polymorphism Urogenital Abnormalities |
Total: 25
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000074 | Ureteropelvic junction obstruction | Very frequent (99-80%) |
| HP:0000130 | Abnormality of the uterus | Very frequent (99-80%) |
| HP:0000813 | Bicornuate uterus | Very frequent (99-80%) |
| HP:0005048 | Synostosis of carpal bones | Very frequent (99-80%) |
| HP:0006110 | Shortening of all middle phalanges of the fingers | Very frequent (99-80%) |
| HP:0009623 | Proximal placement of thumb | Very frequent (99-80%) |
| HP:0009778 | Short thumb | Very frequent (99-80%) |
| HP:0009882 | Short distal phalanx of finger | Very frequent (99-80%) |
| HP:0010034 | Short 1st metacarpal | Very frequent (99-80%) |
| HP:0010105 | Short first metatarsal | Very frequent (99-80%) |
| HP:0010109 | Short hallux | Very frequent (99-80%) |
| HP:0000010 | Recurrent urinary tract infections | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000076 | Vesicoureteral reflux | Frequent (79-30%) |
| HP:0000795 | Abnormality of the urethra | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0007477 | Abnormal dermatoglyphics | Frequent (79-30%) |
| HP:0008080 | Hallux varus | Frequent (79-30%) |
| HP:0011937 | Hypoplastic fifth toenail | Frequent (79-30%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000960 | Sacral dimple | Occasional (29-5%) |
| HP:0001162 | Postaxial hand polydactyly | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0005268 | Spontaneous abortion | Occasional (29-5%) |
| HP:0008551 | Microtia | Occasional (29-5%) |
Total: 5
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0008080 | Hallux varus | 2 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001792 | Small nail | 1 |
| HP:0001822 | Hallux valgus | 1 |
| HP:0009778 | Short thumb | 1 |