| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (17.5%) |
29994870 |
A case of diencephalic syndrome presenting with isolated lipodystrophy. McDermott JH, Harris J, Fedee J, Skae M, Semple R, Douzgou S. Clin Dysmorphol. 2018;27(4):122-125. |
| Failure to thrive Lipodystrophy | ||
| Child, Preschool Differential Diagnosis Failure to Thrive Homo sapiens Hypothalamic Diseases Infant Lipodystrophy Male Syndrome | ||
| 1 (17.5%) |
26252356 |
A Novel Syndrome of Generalized Lipodystrophy Associated With Pilocytic Astrocytoma. Patni N, Alves C, von Schnurbein J, Wabitsch M, Tannin G, Rakheja D, Garg A. J Clin Endocrinol Metab. 2015;100(10):3603-6. |
| Hepatosplenomegaly Congenital generalized lipodystrophy | ||
| Astrocytoma Brain Neoplasms Child Child, Preschool Homo sapiens Infant Lipodystrophy Male Precocious Puberty Syndrome | ||
| 1 (17.5%) |
617340 |
Lipodystrophic diabetes treated with fenfluramine. Trygstad O, Seip M, Oseid S. Int J Obes. 1977;1(3):287-92. |
| Diabetes mellitus Congenital generalized lipodystrophy | ||
| Blood Glucose Diabetes Mellitus Females Homo sapiens Lipids Lipodystrophy | ||
| 1 (17.5%) |
303854 |
[Diagnosis of formes frustes of a rheumatic lesion of the nervous system in children]. Anosov NN, Poliakova LA. Zh Nevropatol Psikhiatr Im S S Korsakova. 1977;77(10):1511-8. |
| Hypotonia | ||
| Brain Child Child, Preschool Electroencephalography Females Homo sapiens Male Neurologic Manifestations Periodicity Rheumatic Heart Disease Rheumatism | ||
| 5 (4.0%) |
29076472 |
[A rare case of diencephalic cachexia in an adult female with cranio-pharyngioma]. Klochkova IS, Astaf'eva LI, Konovalov AN, Kadashev BA, Kalinin PL, Sharipov OI, Kutin MA, Sidneva YG, Shishkina LV, Pronin IN. Zh Vopr Neirokhir Im N N Burdenko. 2017;81(5):84-95. |
| Weight loss | ||
| Adult Cachexia Craniopharyngioma Females Homo sapiens Hypothalamic Neoplasms Pituitary Neoplasms | ||
| 5 (4.0%) |
28687692 |
Diencephalic syndrome: a rare cause of failure to thrive. Tosur M, Tomsa A, Paul DL. BMJ Case Rep. 2017;2017:. |
| Horizontal nystagmus | ||
| Astrocytoma Child, Preschool Failure to Thrive Females Homo sapiens Hypothalamic Diseases Infant Male Pharmacotherapy | ||
| 5 (4.0%) |
27872228 |
Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor. Conway M, Ejaz R, Kouzmitcheva E, Savlov D, Rutka JT, Moharir M. Neurology. 2016;87(21):e248-e251. |
| Nystagmus | ||
| Astrocytoma Brain Stem Neoplasms Differential Diagnosis Females Homo sapiens Hypothalamic Diseases Infant Medulla Oblongata | ||
| 5 (4.0%) |
27456878 |
Anti-N-methyl-d-aspartate receptor encephalitis in a patient with neuromyelitis optica spectrum disorders. Luo JJ, Lv H, Sun W, Zhao J, Hao HJ, Gao F, Huang YN. Mult Scler Relat Disord. 2016;8:74-7. |
| Ovarian teratoma | ||
| Anti-N-Methyl-D-Aspartate Receptor Encephalitis Brain Females Homo sapiens Immunologic Factors Neuromyelitis Optica Young Adult | ||
| 5 (4.0%) |
27398937 |
Profound clinical and radiological response to BRAF inhibition in a 2-month-old diencephalic child with hypothalamic/chiasmatic glioma. Lassaletta A, Guerreiro Stucklin A, Ramaswamy V, Zapotocky M, McKeown T, Hawkins C, Bouffet E, Tabori U. Pediatr Blood Cancer. 2016;63(11):2038-41. |
| Visual loss | ||
| BRAF | ||
| p|SUB|V|600|E;RS#:113488022 | ||
| Brain Neoplasms Females Glioma Homo sapiens Hypothalamic Diseases Infant Magnetic Resonance Imaging Proto-Oncogene Proteins B-raf | ||
| 5 (4.0%) |
26337554 (4559913) |
An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma. Stival A, Lucchesi M, Farina S, Buccoliero AM, Castiglione F, Genitori L, de Martino M, Sardi I. BMC Cancer. 2015;15:616. |
| Failure to thrive | ||
| Astrocytoma Cachexia Failure to Thrive Homo sapiens Hyperkinesia Hypothalamic Neoplasms Infant Male |
Total: 14
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000708 | Behavioral abnormality | Very frequent (99-80%) |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | Very frequent (99-80%) |
| HP:0004325 | Decreased body weight | Very frequent (99-80%) |
| HP:0004326 | Cachexia | Very frequent (99-80%) |
| HP:0004375 | Neoplasm of the nervous system | Very frequent (99-80%) |
| HP:0000040 | Long penis | Frequent (79-30%) |
| HP:0000232 | Everted lower lip vermilion | Frequent (79-30%) |
| HP:0000238 | Hydrocephalus | Frequent (79-30%) |
| HP:0000400 | Macrotia | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0000975 | Hyperhidrosis | Frequent (79-30%) |
| HP:0100022 | Abnormality of movement | Frequent (79-30%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0001176 | Large hands | Occasional (29-5%) |
Total: 35
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001508 | Failure to thrive | 8 |
| HP:0000822 | Hypertension | 4 |
| HP:0031844 | Euphoria | 4 |
| HP:0001824 | Weight loss | 3 |
| HP:0001513 | Obesity | 2 |
| HP:0002024 | Malabsorption | 2 |
| HP:0002039 | Anorexia | 2 |
| HP:0002487 | Hyperkinesis | 2 |
| HP:0004326 | Cachexia | 2 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0000726 | Dementia | 1 |
| HP:0000737 | Irritability | 1 |
| HP:0000741 | Apathy | 1 |
| HP:0000752 | Hyperactivity | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000980 | Pallor | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001269 | Hemiparesis | 1 |
| HP:0001525 | Severe failure to thrive | 1 |
| HP:0001541 | Ascites | 1 |
| HP:0001649 | Tachycardia | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0002072 | Chorea | 1 |
| HP:0002138 | Subarachnoid hemorrhage | 1 |
| HP:0002427 | Motor aphasia | 1 |
| HP:0002516 | Increased intracranial pressure | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0004395 | Malnutrition | 1 |
| HP:0009059 | Congenital generalized lipodystrophy | 1 |
| HP:0009125 | Lipodystrophy | 1 |
| HP:0040293 | Right hemiplegia | 1 |
| HP:0200040 | Epidermoid cyst | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|