| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (52.1%) |
29088509 |
STAR syndrome plus: The first description of a female patient with the lethal form. Bedeschi MF, Giangiobbe S, Paganini L, Tabano S, Silipigni R, Colombo L, Crippa BL, Lalatta F, Guerneri S, Miozzo M. Am J Med Genet A. 2017;173(12):3226-3230. |
| Telecanthus Syndactyly | ||
| CCNQ STAR | ||
| Chromosome Banding Cleft Palate Cyclins Fatal Outcome Females Homo sapiens Infant, Newborn Kidney Point Mutation Syndactyly Toes Urogenital Abnormalities | ||
| 1 (52.1%) |
28322501 |
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC. Am J Med Genet A. 2017;173(5):1328-1333. |
| Telecanthus Toe syndactyly | ||
| CCNQ | ||
| c|SUB|G|651|A p|SUB|W|217|X | ||
| Base Sequence Codon, Nonsense Cyclins Exome Females Homo sapiens Kidney Male Syndactyly Toes Urogenital Abnormalities | ||
| 1 (52.1%) |
26882209 |
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. Orge FH, Dar SA, Blackburn CN, Grimes-Hodges SJ, Mitchell AL. Ophthalmic Genet. 2016;37(3):323-7. |
| Telecanthus Syndactyly | ||
| CCNQ | ||
| Adult Cyclins Eye Abnormalities Females Genes, Dominant Genetic Diseases, X-Linked Homo sapiens Infant Kidney Mutation Optic Atrophy Optic Nerve Retinal Drusen Syndactyly Toes Urogenital Abnormalities | ||
| 1 (52.1%) |
18297069 |
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Unger S, Bohm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Bohm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J. Nat Genet. 2008;40(3):287-9. |
| Telecanthus Syndactyly | ||
| CCNQ PCNA | ||
| rs63749972 | ||
| Cultured Cells Cyclins DNA Mutational Analysis Females Genes, Dominant Genes, X-Linked Homo sapiens Infant Kidney Point Mutation Syndactyly Urogenital Abnormalities | ||
| 5 (4.0%) |
29130579 |
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness. Guen VJ, Edvardson S, Fraenkel ND, Fattal-Valevski A, Jalas C, Anteby I, Shaag A, Dor T, Gillis D, Kerem E, Lees JA, Colas P, Elpeleg O. Am J Med Genet A. 2018;176(1):92-98. |
| Retinopathy | ||
| ARL13B CCNL2 CDK10 | ||
| c|DEL|870_871| | ||
| Alleles Brain Child Cyclin-Dependent Kinases DNA Mutational Analysis Deafness Exome Facies Females Gene Expression Genetic Association Studies Homo sapiens Homozygote Mutation Phenotype RNA, Messenger Retinal Dysplasia |
Total: 28
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000394 | Lop ear | Very frequent (99-80%) |
| HP:0001770 | Toe syndactyly | Very frequent (99-80%) |
| HP:0002023 | Anal atresia | Very frequent (99-80%) |
| HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0000057 | obsolete Clitoromegaly | Frequent (79-30%) |
| HP:0000066 | Labial hypoplasia | Frequent (79-30%) |
| HP:0000076 | Vesicoureteral reflux | Frequent (79-30%) |
| HP:0000083 | Renal insufficiency | Frequent (79-30%) |
| HP:0000085 | Horseshoe kidney | Frequent (79-30%) |
| HP:0000086 | Ectopic kidney | Frequent (79-30%) |
| HP:0000104 | Renal agenesis | Frequent (79-30%) |
| HP:0000219 | Thin upper lip vermilion | Frequent (79-30%) |
| HP:0000414 | Bulbous nose | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0000813 | Bicornuate uterus | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000556 | Retinal dystrophy | Occasional (29-5%) |
| HP:0000625 | Eyelid coloboma | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001659 | Aortic regurgitation | Occasional (29-5%) |
| HP:0002984 | Hypoplasia of the radius | Occasional (29-5%) |
| HP:0003396 | Syringomyelia | Occasional (29-5%) |
| HP:0004415 | Pulmonary artery stenosis | Occasional (29-5%) |
| HP:0007754 | Macular dystrophy | Occasional (29-5%) |
| HP:0011560 | Mitral atresia | Occasional (29-5%) |
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000506 | Telecanthus | 3 |
| HP:0001770 | Toe syndactyly | 3 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001274 | Agenesis of corpus callosum | 1 |
| HP:0001344 | Absent speech | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0002144 | Tethered cord | 1 |