| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (33.4%) |
10426139 |
A novel frameshift mutation in the McLeod syndrome gene in a Japanese family. Hanaoka N, Yoshida K, Nakamura A, Furihata K, Seo T, Tani Y, Takahashi J, Ikeda S, Hanyu N. J Neurol Sci. 1999;165(1):6-9. |
| Acanthocytosis | ||
| Amino Acid Transport Systems, Neutral Blood Proteins Brain Carrier Proteins DNA Flow Cytometry Hematopoietic System Homo sapiens Male Membrane Glycoproteins Membrane Proteins Middle Aged Neuromuscular Diseases Surface Antigens Syndrome X Chromosome X-Ray Computed Tomography | ||
| 2 (26.7%) |
6668479 |
Effects of polyunsaturated fatty acid diets on plasma lipids of patients with adrenomultineuronal degeneration, hepatosplenomegaly and fatty acid derangement. Yao JK, Cannon KP, Holman RT, Dyck PJ. J Neurol Sci. 1983;62(1-3):67-75. |
| Hepatosplenomegaly | ||
| FADS1 | ||
| Child Child, Preschool Dietary Fats Fatty Acids, Unsaturated Homo sapiens Intellectual Disability Lipids Male Nonesterified Fatty Acids Syndrome Triglycerides | ||
| 3 (26.6%) |
2390633 |
Fatal encephalitis in a patient with chronic graft-versus-host disease. Marosi C, Budka H, Grimm G, Zeitlhofer J, Sluga E, Brunner C, Schneeweiss B, Volc B, Bettelheim P, Panzer S, et al.. Bone Marrow Transplant. 1990;6(1):53-7. |
| Dysarthria Thrombocytopenia Dysphagia | ||
| Adult Bone Marrow Transplantation Brain Stem Encephalitis Graft-vs-Host Disease Homo sapiens Male Muscular Atrophy Transplantation, Homologous | ||
| 4 (26.5%) |
12625412 |
A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan. Sato K, Nakajima K, Imamura H, Deguchi T, Horinouchi S, Yamazaki K, Yamada E, Kanaji Y, Takano K. Endocr J. 2002;49(6):625-33. |
| Diabetes mellitus Chronic hepatitis | ||
| AIRE | ||
| p|SUB|R|15|C;RS#:179363875 rs179363875 | ||
| Adult Cytogenetic Analysis DNA Females Homo sapiens Missense Mutation Muscular Atrophy Polyendocrinopathies, Autoimmune | ||
| 5 (19.3%) |
9311007 |
[Neurological CPC.57. An 80-year-old woman with four years history of muscle atrophy involving lower extremities predominantly on the right side]. Miwa H, Mori H, Sumino S, Matsuoka S, Shirai T, Imai H, Mizuno Y. No To Shinkei. 1997;49(9):857-65. |
| Dementia Pallor Fever | ||
| CSF2 | ||
| Aged, 80 and over Amyotrophic Lateral Sclerosis Females Functional Laterality Homo sapiens Leg Muscle Weakness Spinal Muscular Atrophy | ||
| 6 (18.3%) |
1786667 |
[A case of adult-onset tethered cord syndrome accompanied with slowly progressive muscular atrophy in the lower limbs]. Matsuoka T, Ueyama H, Ando Y, Kumamoto T, Araki S. Rinsho Shinkeigaku. 1991;31(7):778-80. |
| Urinary incontinence Sacral dimple Constipation | ||
| Differential Diagnosis Homo sapiens Leg Magnetic Resonance Imaging Male Muscular Atrophy Spina Bifida Occulta Spinal Cord Urination Disorders | ||
| 7 (15.4%) |
27000814 |
[Life-threatening hypophosphatemia in 74-year-old woman with recurrent pneumonia and progressive muscular atrophy]. Shahnazaryan U, Popow M, Roslon M. Pol Merkur Lekarski. 2016;40(236):102-6. |
| Hypophosphatemia Recurrent pneumonia | ||
| Differential Diagnosis Females Homo sapiens Hyperparathyroidism, Primary Hypophosphatemia Spinal Muscular Atrophy Tuberculosis, Pulmonary Vitamin D Deficiency | ||
| 7 (15.4%) |
3808319 |
Motor neuron disease and paraproteinemia. Rudnicki S, Chad DA, Drachman DA, Smith TW, Anwer UE, Levitan N. Neurology. 1987;37(2):335-7. |
| Paraproteinemia | ||
| Amyotrophic Lateral Sclerosis Homo sapiens Male Middle Aged Motor Neurons Muscular Atrophy Neuromuscular Diseases Paraproteinemias | ||
| 9 (15.4%) |
25703763 |
The diagnostic dilemma of progressive muscular atrophy. Ayaz SB, Matee S, Gill ZA, Khan AA. J Coll Physicians Surg Pak. 2015;25(2):149-50. |
| Dysarthria Dysphagia | ||
| Deglutition Disorders Differential Diagnosis Dysarthria Electromyography Females Homo sapiens Magnetic Resonance Imaging Muscular Atrophy Spinal Cord Spinal Muscular Atrophy | ||
| 9 (15.4%) |
15484701 |
Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy exists: additional autopsy case with a clinical course of 19 years. Tsuchiya K, Sano M, Shiotsu H, Akiyama H, Watabiki S, Taki K, Kondo H, Nakano I, Ikeda K. Neuropathology. 2004;24(3):228-35. |
| Dysarthria Dysphagia | ||
| Amyotrophic Lateral Sclerosis Differential Diagnosis Females Homo sapiens Spinal Muscular Atrophy Time Factors |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 25
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0003198 | Myopathy | 4 |
| HP:0001324 | Muscle weakness | 2 |
| HP:0002380 | Fasciculations | 2 |
| HP:0002878 | Respiratory failure | 2 |
| HP:0001251 | Ataxia | 1 |
| HP:0001283 | Bulbar palsy | 1 |
| HP:0001337 | Tremor | 1 |
| HP:0001347 | Hyperreflexia | 1 |
| HP:0001433 | Hepatosplenomegaly | 1 |
| HP:0001824 | Weight loss | 1 |
| HP:0001927 | Acanthocytosis | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002144 | Tethered cord | 1 |
| HP:0002148 | Hypophosphatemia | 1 |
| HP:0002486 | Myotonia | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0003474 | Sensory impairment | 1 |
| HP:0003701 | Proximal muscle weakness | 1 |
| HP:0003798 | Nemaline bodies | 1 |
| HP:0003805 | Rimmed vacuoles | 1 |
| HP:0006532 | Recurrent pneumonia | 1 |
| HP:0010535 | Sleep apnea | 1 |
| HP:0010550 | Paraplegia | 1 |
| HP:0011675 | Arrhythmia | 1 |
| HP:0100315 | Lewy bodies | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|