| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (43.7%) |
26431448 |
Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case. Ortega MC, Skarmeta NP, Diaz YJ. Cranio. 2016;34(5):332-7. |
| Oral ulcer Acanthocytosis Dysphagia | ||
| Adult Botulinum Toxins Chorea Acanthocytosis Syndrome Dystonia Electromyography Females Follow-Up Studies Homo sapiens Mandibular Diseases Oral Ulcer | ||
| 1 (43.7%) |
20430518 |
The first case report of neuroacanthocytosis in Thailand: utilization of a peripheral blood smear technique for detecting acanthocytes. Kanjanasut N, Jagota P, Bhidayasiri R. Clin Neurol Neurosurg. 2010;112(6):541-3. |
| Dysarthria Acanthocytosis Dysphagia | ||
| VPS13A | ||
| Acanthocytes Adult Chorea Acanthocytosis Syndrome Creatine Kinase Deglutition Disorders Dysarthria Homo sapiens Lipoproteins Male Movement Disorders Thailand | ||
| 1 (43.7%) |
17998451 |
Choreoacanthocytosis in a Mexican family. Ruiz-Sandoval JL, Garcia-Navarro V, Chiquete E, Dobson-Stone C, Monaco AP, Alvarez-Palazuelos LE, Padilla-Martinez JJ, Barrera-Chairez E, Rodriguez-Figueroa EI, Perez-Garcia G. Arch Neurol. 2007;64(11):1661-4. |
| Self-mutilation Acanthocytosis Dysphagia | ||
| VPS13A | ||
| c|DUP|3556_3557|AC| | ||
| Adult Chorea Acanthocytosis Syndrome DNA Mutational Analysis Females Homo sapiens Magnetic Resonance Imaging Mexico Middle Aged Mutation Vesicular Transport Proteins | ||
| 1 (43.7%) |
17122731 |
Chorea-acanthocytosis: a mimicker of Huntington disease case report and review of the literature. Gold MM, Shifteh K, Bello JA, Lipton M, Kaufman DM, Brown AD. Neurologist. 2006;12(6):327-9. |
| Dysarthria Acanthocytosis Dysphagia | ||
| Adult Brain Chorea Diagnostic Errors Differential Diagnosis Females Homo sapiens Huntington Disease X-Ray Computed Tomography | ||
| 1 (43.7%) |
16936394 |
A case of choreoacanthocytosis with marked weight loss: impact of orolingual dyskinesia. Harirchian MH, Maghbooli M, Shirani A. Neurol India. 2006;54(3):296-7. |
| Weight loss Acanthocytosis Feeding difficulties | ||
| Adult Chorea Homo sapiens Magnetic Resonance Imaging Male X-Ray Computed Tomography | ||
| 1 (43.7%) |
11746618 |
The chorea of McLeod syndrome. Danek A, Tison F, Rubio J, Oechsner M, Kalckreuth W, Monaco AP. Mov Disord. 2001;16(5):882-9. |
| Facial grimacing Acanthocytosis Dysphagia | ||
| Adult Amino Acid Transport Systems, Neutral Brain Carrier Proteins Chorea Differential Diagnosis Disease Progression Homo sapiens Kell Blood-Group System Male Membrane Proteins Middle Aged Mutation Proteins Vesicular Transport Proteins Videotape Recording X Chromosome | ||
| 7 (39.6%) |
23199253 |
Chorea-acanthocytosis: report of three cases from Iran. Karkheiran S, Bader B, Roohani M, Danek A, Shahidi GA. Arch Iran Med. 2012;15(12):780-2. |
| Seizure Acanthocytosis Elevated serum creatine kinase | ||
| VPS13A | ||
| Adult Chorea Acanthocytosis Syndrome Creatine Kinase Females Homo sapiens Male Middle Aged | ||
| 7 (39.6%) |
2703759 |
Red cell deformability and lipid composition in two forms of acanthocytosis: enrichment of acanthocytic populations by density gradient centrifugation. Clark MR, Aminoff MJ, Chiu DT, Kuypers FA, Friend DS. J Lab Clin Med. 1989;113(4):469-81. |
| Acanthocytosis Dehydration | ||
| Acanthocytes Adult Aged, 80 and over Cell Separation Centrifugation, Density Gradient Chorea Electron Microscopy Erythrocyte Deformability Erythrocyte Indices Erythrocyte Membrane Freeze Fracturing Homo sapiens Lipids Male Phosphatidic Acids Sphingomyelins | ||
| 9 (37.6%) |
16060937 |
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E. Epilepsia. 2005;46(8):1256-63. |
| Hallucinations Acanthocytosis Palpitations | ||
| GNA14 VPS13A | ||
| Adult Anticonvulsants Chorea Electroencephalography Epilepsy, Temporal Lobe Females Hippocampus Proper Homo sapiens Magnetic Resonance Imaging Male Middle Aged Mutation Neuropsychological Tests Videotape Recording | ||
| 9 (37.6%) |
12036185 |
A case of chorea-acanthocytosis with dysautonomia; quantitative autonomic deficits using CASS. Kihara M, Nakashima H, Taki M, Takahashi M, Kawamura Y. Auton Neurosci. 2002;97(1):42-4. |
| Orthostatic hypotension Acanthocytosis | ||
| Adult Blood Pressure Chorea Females Homo sapiens Normal Range Severity of Illness Index Valsalva Maneuver |
Total: 64
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000708 | Behavioral abnormality | Very frequent (99-80%) |
| HP:0000980 | Pallor | Very frequent (99-80%) |
| HP:0001251 | Ataxia | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001877 | Abnormal erythrocyte morphology | Very frequent (99-80%) |
| HP:0001927 | Acanthocytosis | Very frequent (99-80%) |
| HP:0002167 | Neurological speech impairment | Very frequent (99-80%) |
| HP:0009830 | Peripheral neuropathy | Very frequent (99-80%) |
| HP:0100022 | Abnormality of movement | Very frequent (99-80%) |
| HP:0100660 | Dyskinesia | Very frequent (99-80%) |
| HP:0000183 | Difficulty in tongue movements | Frequent (79-30%) |
| HP:0000478 | Abnormality of the eye | Frequent (79-30%) |
| HP:0000496 | Abnormality of eye movement | Frequent (79-30%) |
| HP:0000504 | Abnormality of vision | Frequent (79-30%) |
| HP:0000739 | Anxiety | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001260 | Dysarthria | Frequent (79-30%) |
| HP:0001284 | Areflexia | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0001324 | Muscle weakness | Frequent (79-30%) |
| HP:0001332 | Dystonia | Frequent (79-30%) |
| HP:0001337 | Tremor | Frequent (79-30%) |
| HP:0001892 | Abnormal bleeding | Frequent (79-30%) |
| HP:0002072 | Chorea | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002120 | Cerebral cortical atrophy | Frequent (79-30%) |
| HP:0002310 | Orofacial dyskinesia | Frequent (79-30%) |
| HP:0002354 | Memory impairment | Frequent (79-30%) |
| HP:0002376 | Developmental regression | Frequent (79-30%) |
| HP:0003110 | Abnormality of urine homeostasis | Frequent (79-30%) |
| HP:0003198 | Myopathy | Frequent (79-30%) |
| HP:0003236 | Elevated serum creatine kinase | Frequent (79-30%) |
| HP:0003457 | EMG abnormality | Frequent (79-30%) |
| HP:0003690 | Limb muscle weakness | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0008955 | Progressive distal muscular atrophy | Frequent (79-30%) |
| HP:0008959 | Distal upper limb muscle weakness | Frequent (79-30%) |
| HP:0010526 | Dysgraphia | Frequent (79-30%) |
| HP:0010808 | Protruding tongue | Frequent (79-30%) |
| HP:0012086 | Abnormal urinary color | Frequent (79-30%) |
| HP:0012378 | Fatigue | Frequent (79-30%) |
| HP:0100295 | Muscle fiber atrophy | Frequent (79-30%) |
| HP:0100613 | Death in early adulthood | Frequent (79-30%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000820 | Abnormality of the thyroid gland | Occasional (29-5%) |
| HP:0001541 | Ascites | Occasional (29-5%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0001760 | Abnormality of the foot | Occasional (29-5%) |
| HP:0001824 | Weight loss | Occasional (29-5%) |
| HP:0002017 | Nausea and vomiting | Occasional (29-5%) |
| HP:0002024 | Malabsorption | Occasional (29-5%) |
| HP:0002027 | Abdominal pain | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0002240 | Hepatomegaly | Occasional (29-5%) |
| HP:0002360 | Sleep disturbance | Occasional (29-5%) |
| HP:0002633 | Vasculitis | Occasional (29-5%) |
| HP:0002716 | Lymphadenopathy | Occasional (29-5%) |
| HP:0002910 | Elevated hepatic transaminase | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0006554 | Acute hepatic failure | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
| HP:0100716 | Self-injurious behavior | Occasional (29-5%) |
Total: 22
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001927 | Acanthocytosis | 14 |
| HP:0002072 | Chorea | 12 |
| HP:0001250 | Seizures | 7 |
| HP:0001332 | Dystonia | 5 |
| HP:0002310 | Orofacial dyskinesia | 4 |
| HP:0000726 | Dementia | 3 |
| HP:0001260 | Dysarthria | 2 |
| HP:0002015 | Dysphagia | 2 |
| HP:0003198 | Myopathy | 2 |
| HP:0000739 | Anxiety | 1 |
| HP:0000751 | Personality changes | 1 |
| HP:0001266 | Choreoathetosis | 1 |
| HP:0001824 | Weight loss | 1 |
| HP:0004305 | Involuntary movements | 1 |
| HP:0007018 | Attention deficit hyperactivity disorder | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |
| HP:0011468 | Facial tics | 1 |
| HP:0040140 | Degeneration of the striatum | 1 |
| HP:0040141 | Tardive dyskinesia | 1 |
| HP:0100543 | Cognitive impairment | 1 |
| HP:0100660 | Dyskinesia | 1 |
| HP:0100753 | Schizophrenia | 1 |