| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 9 (37.6%) |
8718661 |
[Cardiac involvement in familial amytrophic chorea with acantocytosis: description of two new clinical cases]. Cavalli G, de Gregorio C, Nicosia S, Melluso C, Serra S. Ann Ital Med Int. 1995;10(4):249-52. |
| Cardiomyopathy Acanthocytosis | ||
| Acanthocytes Adult Cardiomyopathy, Dilated Chorea Echocardiography Electrocardiography Homo sapiens Left Ventricular Hypertrophy Male Middle Aged Syndrome | ||
| 12 (33.4%) |
30687222 |
Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation. Weber J, Frings L, Rijntjes M, Urbach H, Fischer J, Weiller C, Meyer PT, Klebe S. Front Neurol. 2018;9:1168. |
| Seizure Acanthocytosis | ||
| VPS13A | ||
| c|SUB|T|4326|A p|SUB|Y|1442|* | ||
| 12 (33.4%) |
30140251 (6094996) |
Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode. Yi F, Li W, Xie N, Zhou Y, Xu H, Sun Q, Zhou L. Front Neurol. 2018;9:594. |
| Seizure Acanthocytosis | ||
| VPS13A | ||
| 12 (33.4%) |
28527175 |
Chorea and Orofaciolingual Dystonia in a 40 Year Old Male. Sahoo LK, Swain KP, Mallick AK, Mohanty G, Samanta M, Sahoo SK. J Assoc Physicians India. 2017;65(4):93-94. |
| Self-mutilation Acanthocytosis | ||
| Adult Chorea Chorea Acanthocytosis Syndrome Dystonia Homo sapiens Male | ||
| 12 (33.4%) |
26955294 (4772938) |
Chorea-acanthocytosis: a case report. Thapa L, Bhattarai S, Shrestha MP, Panth R, Gongal DN, Devkota UP. Int Med Case Rep J. 2016;9:39-42. |
| Acanthocytosis | ||
| 12 (33.4%) |
25733999 (4345195) |
Globus pallidus interna deep brain stimulation for chorea-acanthocytosis. Lee JH, Cho WH, Cha SH, Kang DW. J Korean Neurosurg Soc. 2015;57(2):143-6. |
| Acanthocytosis | ||
| VPS13A | ||
| 12 (33.4%) |
23615095 |
Successful deep brain stimulation surgery with intraoperative magnetic resonance imaging on a difficult neuroacanthocytosis case: case report. Lim TT, Fernandez HH, Cooper S, Wilson KM, Machado AG. Neurosurgery. 2013;73(1):E184-7; discussion E188. |
| Seizure Acanthocytosis | ||
| Adult Chorea Acanthocytosis Syndrome Deep Brain Stimulation Electrodes, Implanted Homo sapiens Magnetic Resonance Imaging Male Prosthesis Implantation Surgery, Computer-Assisted | ||
| 12 (33.4%) |
22777538 |
Globus pallidus interna deep brain stimulation improves chorea and functional status in a patient with chorea-acanthocytosis. Shin H, Ki CS, Cho AR, Lee JI, Ahn JY, Lee JH, Cho JW. Stereotact Funct Neurosurg. 2012;90(4):273-7. |
| Acanthocytosis | ||
| VPS13A | ||
| Adult Chorea Acanthocytosis Syndrome Deep Brain Stimulation Females Globus Pallidus Homo sapiens | ||
| 12 (33.4%) |
18942308 |
Neuroacanthocytosis: a rare inherited movement disorder. Looi I, Eow GB, Norlia AM, Santhi DP. Med J Malaysia. 2008;63(2):157-8. |
| Polyneuropathy Acanthocytosis | ||
| VPS13A | ||
| Adult Chorea Acanthocytosis Syndrome Homo sapiens Male | ||
| 12 (33.4%) |
18785241 |
Chorea-acanthocytosis: report of two Brazilian cases. Rodrigues GR, Walker RH, Bader B, Danek A, Marques W Jr, Tumas V. Mov Disord. 2008;23(14):2090-3. |
| Hyporeflexia Acanthocytosis | ||
| VPS13A | ||
| Acanthocytes Adult Brazil Chorea Females Homo sapiens Magnetic Resonance Imaging Male Vesicular Transport Proteins |
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 |