3308 (4.0%)
|
Cocaine intoxication
|
Psychosis
Orphanet:90068
Find images (Google)
Find case reports
Monarch
|
3308 (4.0%)
|
Multiple endocrine neoplasia type 4
|
Abnormality of the endocrine system
Autosomal dominant inheritance
Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.
Orphanet:276152
Find images (Google)
Find case reports
Monarch
GTR:C1970712
|
3308 (4.0%)
|
Posterior cortical atrophy
|
Abnormality of vision
Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.
Orphanet:54247
Find images (Google)
Find case reports
Monarch
|
3308 (4.0%)
|
Dermatofibrosarcoma protuberans
|
Aggressive behavior
Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).
Orphanet:31112
Find images (Google)
Find case reports
Monarch
GTR:C0392784
|
3308 (4.0%)
|
Colchicine poisoning
|
Renal insufficiency
Colchicine poisoning is a potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.
Orphanet:31824
Find images (Google)
Find case reports
Monarch
|
3308 (4.0%)
|
Primary lateral sclerosis
|
Dementia
Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.
Orphanet:35689
Find images (Google)
Find case reports
Monarch
GTR:C1968845
GTR:C0154682
|
3308 (4.0%)
|
MODY
|
Abnormality of the kidney
Autosomal dominant inheritance
MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
Orphanet:552
Find images (Google)
Find case reports
Monarch
KEGG:H00410
GTR:C0342276
|
3308 (4.0%)
|
Acquired ichthyosis
|
Renal insufficiency
Orphanet:454
Find images (Google)
Find case reports
Monarch
|
3308 (4.0%)
|
Fragile X-associated tremor/ataxia syndrome
|
Strabismus
X-linked dominant inheritance
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
Orphanet:93256
Find images (Google)
Find case reports
Monarch
KEGG:H01731
Gene Reviews
GTR:C1839780
GTR:C3164069
|
3308 (4.0%)
|
Epidermodysplasia verruciformis
|
Blindness
Autosomal recessive inheritance
Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.
Orphanet:302
Find images (Google)
Find case reports
Monarch
KEGG:H00842
GTR:C0014522
|