| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 20 (40.2%) |
1903499 |
[Seckel's syndrome]. Corona MF, Lazzini F, Arioni C, Bertani R, de Toni T. Minerva Pediatr. 1991;43(1-2):45-7. |
| Microcephaly Large beaked nose | ||
| Abnormalities, Drug-Induced Anticonvulsants Birth Weight Child Facial Expression Females Homo sapiens Intellectual Disability Microcephaly Pregnancy Pregnancy Complications Syndrome Tonic-Clonic Epilepsy | ||
| 22 (39.0%) |
30625818 |
Anesthetic experience of a pediatric patient with Seckel syndrome associated with pneumonia : A case report. Kim TH, Kim YU, Song JG, Hwang JH. Korean J Anesthesiol. 2009;56(6):717-719. |
| Microcephaly | ||
| 22 (39.0%) |
29504900 (5836840) |
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders. Marakhonov AV, Konovalov FA, Makaov AK, Vasilyeva TA, Kadyshev VV, Galkina VA, Dadali EL, Kutsev SI, Zinchenko RA. BMC Med Genomics. 2018;11(Suppl 1):8. |
| Microcephaly | ||
| c|DEL|1386|C | ||
| Dwarfism Facies Females Homo sapiens Male Microcephaly Middle Aged Mutation Nerve Tissue Proteins Syndrome | ||
| 22 (39.0%) |
29284336 |
Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature. Akkurt MO, Pakay K, Akkurt I, Temur M, Korkmazer E. J Matern Fetal Neonatal Med. 2019;32(11):1905-1908. |
| Microcephaly | ||
| Adult Dwarfism Facies Females Homo sapiens Microcephaly Pregnancy Pregnancy Trimester, Second Ultrasonography, Prenatal | ||
| 22 (39.0%) |
26266004 |
Antenatal diagnosis of Seckel Syndrome: a rare case report. Vascone C, Di Meglio F, Di Meglio L, Turco LC, Vitale SG, Cignini P, Marilli I, Rapisarda AM, Valenti G, Cianci S. J Prenat Med. 2014;8(3-4):70-2. |
| Microcephaly | ||
| 22 (39.0%) |
24739918 |
Seckel syndrome: a rare case report. Sisodia R, Raj RK, Goel V. J Indian Soc Pedod Prev Dent. 2014;32(2):160-3. |
| Microcephaly | ||
| Child Homo sapiens Male Syndrome | ||
| 22 (39.0%) |
24483323 |
Successful outcome of allogeneic stem cell transplantation in Seckel syndrome. Darrigo LG Jr, Rodrigues MC, Pieroni F, Stracieri AB, Moraes DA, Grecco CE, Dias JB, Sobral AC, Simoes BP. Pediatr Transplant. 2014;18(3):E93-5. |
| Microcephaly | ||
| Alleles Aplastic Anemia Bone Marrow Transplantation Child Dwarfism Facies Females HLA Antigens Homo sapiens Living Donors Male Microcephaly Middle Aged Transplantation Conditioning Transplantation, Homologous | ||
| 22 (39.0%) |
23482443 (3591075) |
Palatoplasty in a patient with Seckel syndrome. Garg R, Uppal S, Mittal R, Grewal A, Sood D, Shah S. Ann Maxillofac Surg. 2012;2(1):63-5. |
| Microcephaly | ||
| 22 (39.0%) |
23111928 |
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations. Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Picard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P. Hum Mutat. 2013;34(2):374-84. |
| Microcephaly | ||
| ATR | ||
| rs387907327 | ||
| Alleles Animals Ataxia Telangiectasia Mutated Proteins Base Sequence Cell Cycle Proteins Child DNA Breaks, Double-Stranded DNA Replication DNA, Single-Stranded DNA-Binding Proteins Females Fibroblasts Fluorescent Antibody Technique Fluorescent in Situ Hybridization Gene Deletion Genome-Wide Association Study Genomic Instability Heterozygote Homo sapiens Male Microcephaly Missense Mutation Molecular Sequence Data Mus Protein-Serine-Threonine Kinases RNA Splicing Signal Transduction Tumor Suppressor Proteins Western Blotting | ||
| 22 (39.0%) |
21669506 |
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. Fitzgerald B, O'Driscoll M, Chong K, Keating S, Shannon P. Brain Dev. 2012;34(3):238-43. |
| Microcephaly | ||
| Dwarfism Facies Females Fetus Homo sapiens Male Microcephaly Pregnancy |
Total: 26
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000275 | Narrow face | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000444 | Convex nasal ridge | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001363 | Craniosynostosis | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001852 | Sandal gap | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004326 | Cachexia | Very frequent (99-80%) |
| HP:0007495 | Prematurely aged appearance | Very frequent (99-80%) |
| HP:0011342 | Mild global developmental delay | Very frequent (99-80%) |
| HP:0100543 | Cognitive impairment | Very frequent (99-80%) |
| HP:0000363 | Abnormality of earlobe | Frequent (79-30%) |
| HP:0000387 | Absent earlobe | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000501 | Glaucoma | Frequent (79-30%) |
| HP:0000682 | Abnormality of dental enamel | Frequent (79-30%) |
| HP:0001385 | Hip dysplasia | Frequent (79-30%) |
| HP:0002209 | Sparse scalp hair | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0009804 | Reduced number of teeth | Frequent (79-30%) |
| HP:0010579 | Cone-shaped epiphysis | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
Total: 41
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 23 |
| HP:0000347 | Micrognathia | 7 |
| HP:0004322 | Short stature | 5 |
| HP:0008897 | Postnatal growth retardation | 4 |
| HP:0000448 | Prominent nose | 2 |
| HP:0000822 | Hypertension | 2 |
| HP:0001510 | Growth delay | 2 |
| HP:0002863 | Myelodysplasia | 2 |
| HP:0003510 | Severe short stature | 2 |
| HP:0003683 | Large beaked nose | 2 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000201 | Pierre-Robin sequence | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000350 | Small forehead | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000691 | Microdontia | 1 |
| HP:0000787 | Nephrolithiasis | 1 |
| HP:0001047 | Atopic dermatitis | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001252 | Muscular hypotonia | 1 |
| HP:0001279 | Syncope | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001688 | Sinus bradycardia | 1 |
| HP:0001876 | Pancytopenia | 1 |
| HP:0002090 | Pneumonia | 1 |
| HP:0002209 | Sparse scalp hair | 1 |
| HP:0002637 | Cerebral ischemia | 1 |
| HP:0002754 | Osteomyelitis | 1 |
| HP:0002812 | Coxa vara | 1 |
| HP:0006461 | Proximal femoral epiphysiolysis | 1 |
| HP:0008633 | Agonadism | 1 |
| HP:0009741 | Nephrosclerosis | 1 |
| HP:0011451 | Congenital microcephaly | 1 |
| HP:0012245 | Sex reversal | 1 |
| HP:0020073 | Hypopigmented macule | 1 |
| HP:0031972 | Presyncope | 1 |
| HP:0040012 | Chromosome breakage | 1 |
| HP:0100019 | Cortical cataract | 1 |
| HP:0100790 | Hernia | 1 |
| HP:0200034 | Papule | 1 |
| HP:0410030 | Cleft lip | 1 |
Total: 9
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| ATR | ATR serine/threonine kinase | 545 |
| CENPJ | centromere protein J | 55835 |
| PCNT | pericentrin | 5116 |
| CEP152 | centrosomal protein 152 | 22995 |
| RBBP8 | RB binding protein 8, endonuclease | 5932 |
| ATRIP | ATR interacting protein | 84126 |
| TRAIP | TRAF interacting protein | 10293 |
| PLK4 | polo like kinase 4 | 10733 |
| CENPE | centromere protein E | 1062 |