| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.6%) |
10882755 |
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. Cormier-Daire V, Chauvet ML, Lyonnet S, Briard ML, Munnich A, Le Merrer M. J Med Genet. 2000;37(7):520-4. |
| Microcephaly Micrognathia Brachydactyly | ||
| Child Child, Preschool Face Females Homo sapiens Hydronephrosis Infant Infant, Newborn Intellectual Disability Kidney Lung Male Patella Phenotype Polycystic Kidney Diseases Pregnancy Scrotum Syndrome | ||
| 2 (48.4%) |
28696035 |
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. Bashir RA, Dixit A, Goedhart C, Parboosingh JS, Innes AM, , Ferreira P, Hasan SU, Au PB. Am J Med Genet A. 2017;173(10):2596-2604. |
| Retrognathia Short palpebral fissure | ||
| KAT6B | ||
| c|DEL|4205_4206|CT;RS#:199470477 c|DUP|4572|T| p|FS|S|1402|C|5;RS#:199470477 rs199470477 | ||
| Adult Craniosynostosis Homo sapiens Infant Infant, Newborn Male Mutation Phenotype Syndrome | ||
| 3 (45.9%) |
30900427 |
Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea. Kim BR, Han JH, Shin JE, Park MS, Park KI, Namgung R, Lee HJ, Lee JS, Eun HS. Yonsei Med J. 2019;60(4):395-398. |
| Flexion contracture Patellar hypoplasia | ||
| KAT6B | ||
| Craniofacial Abnormalities Females Homo sapiens Infant Intellectual Disability Kidney Mutation Patella Psychomotor Disorders Scrotum South Korea Urogenital Abnormalities Whole Exome Sequencing | ||
| 4 (39.0%) |
12949978 |
Genitopatellar syndrome: expanding the phenotype. Lifchez CA, Rhead WJ, Leuthner SR, Lubinsky MS. Am J Med Genet A. 2003;122A(1):80-3. |
| Microcephaly | ||
| rs199470470 | ||
| Facies Genes, Recessive Genetic Diseases, Inborn Homo sapiens Infant Infant, Newborn Intellectual Disability Male Male Genital Organs Patella Phenotype | ||
| 4 (39.0%) |
12210330 |
Genitopatellar syndrome: delineating the anomalies of female genitalia. Lammer EJ, Abrams L. Am J Med Genet. 2002;111(3):316-8. |
| Microcephaly | ||
| rs199470473 | ||
| Arthrogryposis Child, Preschool Female Genital Diseases Females Homo sapiens Infant Infant, Newborn Intellectual Disability Patella | ||
| 6 (30.8%) |
26334766 |
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. Yilmaz R, Beleza-Meireles A, Price S, Oliveira R, Kubisch C, Clayton-Smith J, Szakszon K, Borck G. Am J Med Genet A. 2015;167A(12):3006-10. |
| Blepharophimosis | ||
| KAT6B | ||
| c|SUB|G|3147|A p|SUB|P|1049|P rs199470477 | ||
| Blepharophimosis Child Child, Preschool Congenital Heart Defects Congenital Hypothyroidism Facies Females Homo sapiens Intellectual Disability Joint Instability Male Mutation Pregnancy RNA Splice Sites RNA Splicing | ||
| 6 (30.8%) |
24458743 (4414115) |
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Yu HC, Geiger EA, Medne L, Zackai EH, Shaikh TH. Am J Med Genet A. 2014;164A(4):950-7. |
| Ptosis Epicanthus inversus | ||
| FOXL2 KAT6B | ||
| Blepharophimosis Codon, Nonsense Forkhead Box Protein L2 Forkhead Transcription Factors Homo sapiens Infant Male Phenotype Skin Abnormalities Urogenital Abnormalities | ||
| 6 (30.8%) |
23436491 |
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. Szakszon K, Salpietro C, Kakar N, Knegt AC, Olah E, Dallapiccola B, Borck G. Am J Med Genet A. 2013;161A(4):884-8. |
| Hearing impairment Blepharophimosis | ||
| KAT6B | ||
| rs199470477 rs199470484 rs387907364 | ||
| Base Sequence Blepharophimosis Child, Preschool Congenital Heart Defects Congenital Hypothyroidism Exons Facies Females Genetic Association Studies Heterozygote Homo sapiens Infant Intellectual Disability Joint Instability Male Mutation Phenotype | ||
| 9 (21.2%) |
29899993 (5972145) |
Genitopatellar syndrome: the first reported case in Japan. Okano S, Miyamoto A, Fukuda I, Tanaka H, Hata K, Kaname T, Matsubara Y, Makita Y. Hum Genome Var. 2018;5:8. |
| Flexion contracture | ||
| KAT6B | ||
| c|DEL|3603_3606| p|FS|R|1201|| | ||
| 9 (21.2%) |
19208376 |
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. Penttinen M, Koillinen H, Niinikoski H, Makitie O, Hietala M. Am J Med Genet A. 2009;149A(3):451-5. |
| Delayed puberty Osteoporosis | ||
| Congenital Abnormality Females Homo sapiens Osteoporosis Severity of Illness Index Syndrome Urogenital Abnormalities |
Total: 38
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000003 | Multicystic kidney dysplasia | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000046 | Scrotal hypoplasia | Very frequent (99-80%) |
| HP:0000126 | Hydronephrosis | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
| HP:0000445 | Wide nose | Very frequent (99-80%) |
| HP:0000448 | Prominent nose | Very frequent (99-80%) |
| HP:0000946 | Hypoplastic ilia | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Very frequent (99-80%) |
| HP:0003175 | Hypoplastic ischia | Very frequent (99-80%) |
| HP:0003273 | Hip contracture | Very frequent (99-80%) |
| HP:0004279 | Short palm | Very frequent (99-80%) |
| HP:0006380 | Knee flexion contracture | Very frequent (99-80%) |
| HP:0006443 | Patellar aplasia | Very frequent (99-80%) |
| HP:0008665 | Clitoral hypertrophy | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000684 | Delayed eruption of teeth | Frequent (79-30%) |
| HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001274 | Agenesis of corpus callosum | Frequent (79-30%) |
| HP:0001762 | Talipes equinovarus | Frequent (79-30%) |
| HP:0002209 | Sparse scalp hair | Frequent (79-30%) |
| HP:0002213 | Fine hair | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (29-5%) |
| HP:0002104 | Apnea | Occasional (29-5%) |
| HP:0002974 | Radioulnar synostosis | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000046 | Scrotal hypoplasia | 1 |
| HP:0000581 | Blepharophimosis | 1 |
| HP:0000939 | Osteoporosis | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001371 | Flexion contracture | 1 |
| HP:0012245 | Sex reversal | 1 |
| HP:0025356 | Psychomotor retardation | 1 |