| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
28371217 |
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L. Am J Med Genet A. 2017;173(5):1390-1395. |
| Microcephaly | ||
| ATR ATRX TRIO | ||
| c|SUB|C|7156|T;RS#:122445099 p|SUB|R|2386|*;RS#:122445099 rs1057521987 rs122445110 rs122445111 rs141240580 rs1557060350 rs1557082399 rs1557139920 rs1557140924 rs199543136 rs199780997 rs782274478 rs782556767 | ||
| Adult Base Sequence DNA Helicases Exome Females Germ-Line Mutation Heterozygote Homo sapiens Intellectual Disability Male Mental Retardation, X-Linked Nuclear Proteins Osteosarcoma Sibling X-linked Nuclear Protein alpha-Thalassemia | ||
| 1 (39.0%) |
22089611 (3237247) |
ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31). Thakur S, Ishrie M, Saxena R, Danda S, Linda R, Viswabandya A, Verma IC. Indian J Med Res. 2011;134:483-6. |
| Microcephaly | ||
| c|SUB|C|6718|T c|SUB|C||T rs199474698 | ||
| DNA Helicases Exons Homo sapiens Infant Male Mental Retardation, X-Linked Missense Mutation Nuclear Proteins Sibling X-linked Nuclear Protein alpha-Thalassemia | ||
| 3 (17.5%) |
22516698 |
[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues]. Szczaluba K, Obersztyn E, Nowakowska B, Bernaciak J, Fisher C, Gibbons R, Mazurczak T, Bocian E. Med Wieku Rozwoj. 2011;15(4):437-44. |
| Hypotonia | ||
| ATRX | ||
| Adult Child, Preschool Females Gene Deletion Genetic Counseling Genotype Heterozygote Homo sapiens Infant Infant, Newborn Male Mental Retardation, X-Linked Mutation Phenotype Sibling alpha-Thalassemia | ||
| 4 (4.0%) |
26860117 |
A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia. Hamzeh AR, Nair P, Mohamed M, Saif F, Tawfiq N, Al-Ali MT, Bastaki F. Ir J Med Sci. 2017;186(2):333-337. |
| Intellectual disability | ||
| ATRX | ||
| c|SUB|T|5666|G p|SUB|L|1889|W | ||
| Alleles Heterozygote Homo sapiens Infant Intellectual Disability Male Mental Retardation, X-Linked Missense Mutation alpha-Thalassemia | ||
| 4 (4.0%) |
26174613 |
Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature. Horesh N, Pery R, Amiel I, Shwaartz C, Speter C, Guranda L, Gutman M, Hoffman A. Am J Med Genet A. 2015;167A(11):2777-9. |
| Dehydration | ||
| Child, Preschool Homo sapiens Intestinal Obstruction Intestinal Volvulus Intestines, Small Male Mental Retardation, X-Linked Pathological Dilatation Young Adult alpha-Thalassemia | ||
| 4 (4.0%) |
25252072 |
Esophago-gastric motility and nutritional management in a child with ATR-X syndrome. Watanabe T, Arai K, Takahashi M, Ohno M, Sato K, Fuchimoto Y, Wada T, Ida S, Kawahara H, Kanamori Y. Pediatr Int. 2014;56(4):e48-51. |
| Vomiting | ||
| ATR | ||
| Esophagus Homo sapiens Infant, Newborn Male Mental Retardation, X-Linked Stomach alpha-Thalassemia | ||
| 4 (4.0%) |
23593745 |
[A case of X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome with repeated apnea attacks due to laryngomalacia]. Ebishima Y, Misaki T, Owa K, Okuno T, Wada T, Suehiro Y. No To Hattatsu. 2013;45(1):44-8. |
| Laryngomalacia | ||
| Apnea Child Genetic Predisposition to Disease Homo sapiens Intellectual Disability Laryngomalacia Male Mental Retardation, X-Linked alpha-Thalassemia | ||
| 4 (4.0%) |
21218045 (3012841) |
The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea. Yun KW, Chae SA, Lee JJ, Yun SW, Yoo BH, Lim IS, Choi ES, Lee MK. J Korean Med Sci. 2011;26(1):146-9. |
| Irritability | ||
| ATRX | ||
| Amino Acid Substitution Body Dysmorphic Disorders Child, Preschool DNA Mutational Analysis Epilepsy Exons Hemoglobin H Homo sapiens Intellectual Disability Male Mental Retardation, X-Linked Point Mutation South Korea alpha-Thalassemia | ||
| 4 (4.0%) |
16688741 |
Gastrointestinal phenotype of ATR-X syndrome. Martucciello G, Lombardi L, Savasta S, Gibbons RJ. Am J Med Genet A. 2006;140(11):1172-6. |
| Vomiting | ||
| ATR | ||
| Child, Preschool Constipation DNA Helicases Diseases in Twins Gastrointestinal Diseases Homo sapiens Male Mental Retardation, X-Linked Mutation Nuclear Proteins Phenotype Syndrome X-linked Nuclear Protein alpha-Thalassemia | ||
| 4 (4.0%) |
16222662 |
Asplenia in ATR-X syndrome: a second report. Leahy RT, Philip RK, Gibbons RJ, Fisher C, Suri M, Reardon W. Am J Med Genet A. 2005;139(1):37-9. |
| Asplenia | ||
| ATR | ||
| rs122445112 | ||
| DNA Helicases Homo sapiens Infant, Newborn Intellectual Disability Male Mutation Nuclear Proteins Pneumococcal Infections Spleen Syndrome X-linked Nuclear Protein |
Total: 57
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000037 | Male pseudohermaphroditism | Very frequent (99-80%) |
| HP:0000062 | Ambiguous genitalia | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000271 | Abnormality of the face | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000708 | Behavioral abnormality | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0002020 | Gastroesophageal reflux | Very frequent (99-80%) |
| HP:0002357 | Dysphasia | Very frequent (99-80%) |
| HP:0010461 | Abnormality of the male genitalia | Very frequent (99-80%) |
| HP:0011328 | Abnormality of fontanelles | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0012736 | Profound global developmental delay | Very frequent (99-80%) |
| HP:0000158 | Macroglossia | Frequent (79-30%) |
| HP:0000179 | Thick lower lip vermilion | Frequent (79-30%) |
| HP:0000232 | Everted lower lip vermilion | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000457 | Depressed nasal ridge | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0000717 | Autism | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001762 | Talipes equinovarus | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0008736 | Hypoplasia of penis | Frequent (79-30%) |
| HP:0010804 | Tented upper lip vermilion | Frequent (79-30%) |
| HP:0010806 | U-Shaped upper lip vermilion | Frequent (79-30%) |
| HP:0011800 | Midface retrusion | Frequent (79-30%) |
| HP:0011902 | Abnormal hemoglobin | Frequent (79-30%) |
| HP:0000010 | Recurrent urinary tract infections | Occasional (29-5%) |
| HP:0000077 | Abnormality of the kidney | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000164 | Abnormality of the dentition | Occasional (29-5%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000618 | Blindness | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000716 | Depressivity | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001258 | Spastic paraplegia | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001371 | Flexion contracture | Occasional (29-5%) |
| HP:0001387 | Joint stiffness | Occasional (29-5%) |
| HP:0001522 | Death in infancy | Occasional (29-5%) |
| HP:0001903 | Anemia | Occasional (29-5%) |
| HP:0002017 | Nausea and vomiting | Occasional (29-5%) |
| HP:0002019 | Constipation | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0002383 | Encephalitis | Occasional (29-5%) |
| HP:0002580 | Volvulus | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0008872 | Feeding difficulties in infancy | Occasional (29-5%) |
| HP:0100022 | Abnormality of movement | Occasional (29-5%) |
| HP:0100716 | Self-injurious behavior | Occasional (29-5%) |
Total: 11
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002013 | Vomiting | 2 |
| HP:0000037 | Male pseudohermaphroditism | 1 |
| HP:0001601 | Laryngomalacia | 1 |
| HP:0001746 | Asplenia | 1 |
| HP:0002027 | Abdominal pain | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0002580 | Volvulus | 1 |
| HP:0011968 | Feeding difficulties | 1 |
| HP:0012450 | Chronic constipation | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0031273 | Shock | 1 |