| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (50.0%) |
12086964 |
Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene. Biason-Lauber A, Lang-Muritano M, Vaccaro T, Schoenle EJ. Diabetes. 2002;51(7):2301-5. |
| Microcephaly Epiphyseal dysplasia | ||
| EIF2A EIF2AK3 | ||
| p|SUB|S|877|P | ||
| Base Sequence Females Homo sapiens Infant Male Mutation Pancreas Polymerase Chain Reaction eIF-2 Kinase | ||
| 2 (23.3%) |
29941710 (6032686) |
A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient. Ban R, Guo JH, Pu CQ, Shi Q, Liu HX, Zhang YT. Chin Med J (Engl). 2018;131(13):1569-1574. |
| Seizure Scoliosis | ||
| g|SUB|T|14709|C m|SUB|T|14709|C | ||
| DNA, Mitochondrial Deafness Homo sapiens MERRF Syndrome Male Mutation | ||
| 3 (20.4%) |
10826513 |
Maternally inherited diabetes and deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family. Schleiffer T, 't Hart LM, Schurfeld C, Kraatz K, Riemann JF. Exp Clin Endocrinol Diabetes. 2000;108(2):81-5. |
| Seizure Pancreatic calcification | ||
| Adult Calcinosis Complications of Diabetes Mellitus DNA, Mitochondrial Deafness Diabetes Mellitus Females Germany Homo sapiens Middle Aged Mutation Pancreatic Diseases Pancreatitis Pathological Dilatation Syndrome | ||
| 4 (17.5%) |
30210725 |
The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness. Finsterer J, Frank M. Oman Med J. 2018;33(5):437-440. |
| Hypogonadism Myopathy | ||
| TIPRL | ||
| 4 (17.5%) |
26885883 |
Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus Patient. Inoue T, Murakami N, Ayabe T, Oto Y, Nishino I, Goto Y, Koga Y, Sakuta R. J Clin Endocrinol Metab. 2016;101(5):1924-6. |
| Diabetes mellitus Myopathy | ||
| INS | ||
| m|SUB|T|14709|C | ||
| Adult C-Peptide Diabetes Mellitus Homo sapiens Insulin Male Mitochondrial Diseases Mutation | ||
| 4 (17.5%) |
23357420 |
A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions. Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Charfi N, Abid M, Fakhfakh F. Biochem Biophys Res Commun. 2013;431(4):670-4. |
| Ptosis Myopathy | ||
| m|SUB|A|1555|G m|SUB|A|3243|G m|SUB|T|14709|C m|SUB|T|3308|C;RS#:28358582 | ||
| Adult Amino Acid Sequence DNA, Mitochondrial Deafness Diabetes Mellitus, Non-Insulin-Dependent Homo sapiens Leukocytes Male Mitochondrial Diseases Molecular Sequence Data Mutation Ribosomal RNA Sequence Deletion | ||
| 4 (17.5%) |
19809976 |
[Secondary forms of diabetes mellitus]. Henzen C. Praxis (Bern 1994). 2009;98(20):1135-40. |
| Diabetes mellitus Lipodystrophy | ||
| Adult Cystic Fibrosis Diabetes Mellitus, Non-Insulin-Dependent Differential Diagnosis Females Gestational Diabetes Hand Hemochromatosis Hemochromatosis Protein Histocompatibility Antigens Class I Homo sapiens Insulin Resistance Male Membrane Proteins Middle Aged Point Mutation Pregnancy | ||
| 4 (17.5%) |
14757294 |
Lipoma and opthalmoplegia in mitochondrial diabetes associated with small heteroplasmy level of 3243 tRNA(Leu(UUR)) mutation. Suzuki Y, Nishimaki K, Taniyama M, Muramatsu T, Atsumi Y, Matsuoka K, Ohta S. Diabetes Res Clin Pract. 2004;63(3):225-9. |
| Diplopia Lipoma | ||
| g|SUB|A|3243|G | ||
| Complications of Diabetes Mellitus DNA, Mitochondrial Diabetes Mellitus Homo sapiens Leucine-Specific tRNA Lipoma Male Mutation Ophthalmoplegia | ||
| 4 (17.5%) |
10772130 |
Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA. Tanaka K, Takada Y, Matsunaka T, Yuyama S, Fujino S, Maguchi M, Yamashita S, Yuba I. Intern Med. 2000;39(3):249-52. |
| Diabetes mellitus Muscle weakness | ||
| g|SUB|A|3243|G | ||
| DNA Mutational Analysis DNA Primers DNA, Mitochondrial Deafness Diabetes Mellitus Females Homo sapiens Hypocalcemia Hypoparathyroidism Middle Aged Muscle Weakness Phenotype Point Mutation | ||
| 4 (17.5%) |
10737988 |
Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene. Akita Y, Koga Y, Iwanaga R, Wada N, Tsubone J, Fukuda S, Nakamura Y, Kato H. Hum Mutat. 2000;15(4):382. |
| Generalized hypotonia | ||
| g|SUB|A|8296|G | ||
| Diseases in Twins Fatal Outcome Females Homo sapiens Hypertrophic Cardiomyopathy Infant, Newborn Point Mutation Pregnancy RNA RNA, Mitochondrial RNA, Transfer, Amino Acyl |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0000532 | Abnormal chorioretinal morphology | Very frequent (99-80%) |
| HP:0002019 | Constipation | Very frequent (99-80%) |
| HP:0002024 | Malabsorption | Very frequent (99-80%) |
| HP:0005978 | Type II diabetes mellitus | Very frequent (99-80%) |
| HP:0007754 | Macular dystrophy | Very frequent (99-80%) |
| HP:0000093 | Proteinuria | Frequent (79-30%) |
| HP:0000544 | External ophthalmoplegia | Frequent (79-30%) |
| HP:0000822 | Hypertension | Frequent (79-30%) |
| HP:0001324 | Muscle weakness | Frequent (79-30%) |
| HP:0001635 | Congestive heart failure | Frequent (79-30%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Frequent (79-30%) |
| HP:0003119 | Abnormal circulating lipid concentration | Frequent (79-30%) |
| HP:0003326 | Myalgia | Frequent (79-30%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Frequent (79-30%) |
| HP:0011675 | Arrhythmia | Frequent (79-30%) |
| HP:0100820 | Glomerulopathy | Frequent (79-30%) |
| HP:0000083 | Renal insufficiency | Occasional (29-5%) |
| HP:0000488 | Retinopathy | Occasional (29-5%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0001251 | Ataxia | Occasional (29-5%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000819 | Diabetes mellitus | 6 |
| HP:0001638 | Cardiomyopathy | 4 |
| HP:0002401 | Stroke-like episode | 4 |
| HP:0003128 | Lactic acidosis | 4 |
| HP:0000099 | Glomerulonephritis | 1 |
| HP:0000100 | Nephrotic syndrome | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000855 | Insulin resistance | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0001399 | Hepatic failure | 1 |
| HP:0003074 | Hyperglycemia | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0007754 | Macular dystrophy | 1 |
| HP:0009125 | Lipodystrophy | 1 |
| HP:0011505 | Cystoid macular edema | 1 |
| HP:0012032 | Lipoma | 1 |
| HP:0012636 | Retinal vein occlusion | 1 |
| HP:0040270 | Impaired glucose tolerance | 1 |