| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
27855655 (5114772) |
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype. Fadda A, Butt F, Tomei S, Deola S, Lo B, Robay A, Al-Shakaki A, Al-Hajri N, Crystal R, Kambouris M, Wang E, Marincola FM, Fakhro KA, Cugno C. BMC Med Genet. 2016;17(1):84. |
| Microcephaly | ||
| c|SUB|C|2125|T;RS#:587776946 c|SUB|T|1312|C;RS#:764738141 p|SUB|R|709|X;RS#:587776946 p|SUB|Y|438|H rs886037777 | ||
| Brain Child Craniofacial Abnormalities DNA Ligase ATP Facies Females Genome Growth Disorders Homo sapiens Homozygote Immunologic Deficiency Syndromes Immunophenotyping Magnetic Resonance Imaging Membrane Glycoproteins Missense Mutation Phenotype Urologic Diseases | ||
| 1 (39.0%) |
26774591 |
Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma. Sharapova SO, Chang EY, Guryanova IE, Proleskovskaya IV, Fedorova AS, Rutskaya EA, Aleinikova OV. Clin Immunol. 2016;163:108-10. |
| Microcephaly | ||
| ATM LIG4 NLRP3 NOD2 | ||
| c|DEL|2736+3|C c|SUB|C|26|T;RS#:1805388 c|SUB|C|8|T;RS#:1805389 p|SUB|A|3|V;RS#:1805389 p|SUB|T|9|I;RS#:1805388 | ||
| Brain Neoplasms Child, Preschool DNA Ligase ATP DNA Ligases Diffuse Large B-Cell Lymphoma Epstein-Barr Virus Infections Females High-Throughput Nucleotide Sequencing Homo sapiens Immunologic Deficiency Syndromes Lung Neoplasms Mutation Neoplasms, Multiple Primary Sequence Analysis, DNA | ||
| 1 (39.0%) |
26172957 |
Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency. Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, Nakazawa Y, Mishima H, Takahashi K, Kondo O, Imai K, Morio T, Ohara O, Ogi T, Furukawa F, Inoue M, Yoshiura K, Kanazawa N. Clin Immunol. 2015;160(2):255-60. |
| Microcephaly | ||
| rs104894419 rs780879476 | ||
| Craniofacial Abnormalities DNA Ligase ATP DNA Ligases Growth Disorders Homo sapiens Immunologic Deficiency Syndromes Male Microcephaly Pancytopenia Severe Combined Immunodeficiency | ||
| 1 (39.0%) |
19418549 |
A novel mutation in a family with DNA ligase IV deficiency syndrome. Unal S, Cerosaletti K, Uckan-Cetinkaya D, Cetin M, Gumruk F. Pediatr Blood Cancer. 2009;53(3):482-4. |
| Microcephaly | ||
| LIG4 | ||
| Child DNA Ligase ATP DNA Ligases Females Homo sapiens Mutation Syndrome | ||
| 1 (39.0%) |
16088910 |
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM. Am J Med Genet A. 2005;137A(3):283-7. |
| Microcephaly | ||
| LIG4 NBN | ||
| c|SUB|C|2440|T;RS#:104894419 p|SUB|R|814|X;RS#:104894419 rs104894419 rs780879476 | ||
| Child, Preschool Chromosome Aberrations Chromosome Breakage Cultured Cells DNA Ligase ATP DNA Ligases Developmental Disabilities Differential Diagnosis Face Fibroblasts Growth Disorders Homo sapiens Male Microcephaly Mutation Syndrome Western Blotting | ||
| 6 (4.0%) |
27063650 (4842108) |
Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals. Felgentreff K, Baxi SN, Lee YN, Dobbs K, Henderson LA, Csomos K, Tsitsikov EN, Armanios M, Walter JE, Notarangelo LD. J Clin Immunol. 2016;36(4):341-53. |
| Pancytopenia | ||
| rs104894419 rs780879476 | ||
| Adult Agammaglobulinemia Child Cultured Cells DNA Ligase ATP Females Fibroblasts Homo sapiens Immunologic Deficiency Syndromes Lymphocyte Subset Male Mutation Young Adult | ||
| 6 (4.0%) |
17345618 |
Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome. Toita N, Hatano N, Ono S, Yamada M, Kobayashi R, Kobayashi I, Kawamura N, Okano M, Satoh A, Nakagawa A, Ohshima K, Shindoh M, Takami T, Kobayashi K, Ariga T. Am J Med Genet A. 2007;143A(7):742-5. |
| Leukemia | ||
| LIG4 | ||
| p|SUB|M|249|V rs104894419 rs780879476 | ||
| Amino Acid Substitution B-Cell Lymphomas Base Sequence DNA Ligase ATP DNA Ligases Epstein-Barr Virus Infections Females Homo sapiens Sequence Deletion Syndrome | ||
| 6 (4.0%) |
17224058 (1781429) |
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure. Gruhn B, Seidel J, Zintl F, Varon R, Tonnies H, Neitzel H, Bechtold A, Hoehn H, Schindler D. Orphanet J Rare Dis. 2007;2:5. |
| Postnatal growth retardation | ||
| LIG4 | ||
| Bone Marrow Diseases Bone Marrow Transplantation Child Child Development Child, Preschool DNA Ligase ATP DNA Ligases DNA Repair-Deficiency Disorders Differential Diagnosis Females Fetal Growth Retardation Homo sapiens Infant Infant, Newborn Microcephaly Pregnancy |
Total: 35
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000320 | Bird-like facies | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0002721 | Immunodeficiency | Very frequent (99-80%) |
| HP:0003220 | Abnormality of chromosome stability | Very frequent (99-80%) |
| HP:0000233 | Thin vermilion border | Frequent (79-30%) |
| HP:0000248 | Brachycephaly | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000294 | Low anterior hairline | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0000992 | Cutaneous photosensitivity | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001876 | Pancytopenia | Frequent (79-30%) |
| HP:0002488 | Acute leukemia | Frequent (79-30%) |
| HP:0002665 | Lymphoma | Frequent (79-30%) |
| HP:0003683 | Large beaked nose | Frequent (79-30%) |
| HP:0004422 | Biparietal narrowing | Frequent (79-30%) |
| HP:0004430 | Severe combined immunodeficiency | Frequent (79-30%) |
| HP:0005561 | Abnormality of bone marrow cell morphology | Frequent (79-30%) |
| HP:0010783 | Erythema | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000924 | Abnormality of the skeletal system | Occasional (29-5%) |
| HP:0001974 | Leukocytosis | Occasional (29-5%) |
| HP:0002024 | Malabsorption | Occasional (29-5%) |
| HP:0002240 | Hepatomegaly | Occasional (29-5%) |
| HP:0002716 | Lymphadenopathy | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0005978 | Type II diabetes mellitus | Occasional (29-5%) |
| HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
| HP:0100585 | Telangiectasia of the skin | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 3 |
| HP:0002721 | Immunodeficiency | 2 |
| HP:0001876 | Pancytopenia | 1 |