3308 (4.0%)
|
Corticobasal syndrome
|
Behavioral abnormality
Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.
Orphanet:454887
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3308 (4.0%)
|
PPoma
|
Abnormality of the thyroid gland
PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term).
Orphanet:97278
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|
3308 (4.0%)
|
Opsoclonus-myoclonus syndrome
|
Retinopathy
Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.
Orphanet:1183
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GTR:C0393626
GTR:C1096154
GTR:C1721017
|
3308 (4.0%)
|
Eosinophilic colitis
|
Autism
Orphanet:402035
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GTR:C0267448
|
3308 (4.0%)
|
Panhypophysitis
|
Amenorrhea
Panhypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.
Orphanet:95513
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|
3308 (4.0%)
|
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
|
Pigmentary retinopathy
Autosomal recessive inheritance
Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.
Orphanet:71212
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KEGG:H01364
GTR:C1291230
|
3308 (4.0%)
|
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
|
Proteinuria
Orphanet:436271
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|
3308 (4.0%)
|
Frontotemporal dementia with motor neuron disease
|
Ptosis
Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.
Orphanet:275872
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GTR:C3888102
|
3308 (4.0%)
|
Spinocerebellar ataxia type 7
|
Retinopathy
Autosomal dominant inheritance
Genetic anticipation with paternal anticipation bias
Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.
Orphanet:94147
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Gene Reviews
GTR:C0752125
|
3308 (4.0%)
|
Maternally-inherited diabetes and deafness
|
Renal insufficiency
Mitochondrial inheritance
Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.
Orphanet:225
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GTR:C0342289
|
3308 (4.0%)
|
Cocaine intoxication
|
Psychosis
Orphanet:90068
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|
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
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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
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|
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
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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
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|
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
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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
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KEGG:H00410
GTR:C0342276
|
3308 (4.0%)
|
Acquired ichthyosis
|
Renal insufficiency
Orphanet:454
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|
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
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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
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KEGG:H00842
GTR:C0014522
|
3308 (4.0%)
|
Fructose-1,6-bisphosphatase deficiency
|
Irritability
Autosomal recessive inheritance
Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.
Orphanet:348
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KEGG:H00114
GTR:C0016756
|
3308 (4.0%)
|
Wells syndrome
|
Jaundice
Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.
Orphanet:901
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GTR:C0343101
|
3308 (4.0%)
|
Neuroendocrine tumor of stomach
|
Dermatological manifestations of systemic disorders
Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.
Orphanet:100075
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|
3308 (4.0%)
|
Acute fatty liver of pregnancy
|
Polyuria
A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.
Orphanet:243367
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GTR:C1455728
|
3308 (4.0%)
|
Plasma cell leukemia
|
Renal insufficiency
Orphanet:454714
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GTR:C0023484
|
3308 (4.0%)
|
Adenohypophysitis
|
Amenorrhea
A rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.
Orphanet:95512
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|
3308 (4.0%)
|
Manganese poisoning
|
Visual impairment
Orphanet:306682
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GTR:C0677050
|
3308 (4.0%)
|
Niemann-Pick disease type C
|
Vertical supranuclear gaze palsy
Niemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.
Orphanet:646
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GTR:C0220756
|
3308 (4.0%)
|
Lafora disease
|
Blindness
Autosomal recessive inheritance
Heterogeneous
Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.
Orphanet:501
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KEGG:H01994
Gene Reviews
GTR:C0751783
|
3308 (4.0%)
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Retinopathy
Autosomal recessive inheritance
A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.
Orphanet:5
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KEGG:H00489
GTR:C0342786
GTR:C1969443
|
3308 (4.0%)
|
Beta-ketothiolase deficiency
|
Agitation
Autosomal recessive inheritance
A rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.
Orphanet:134
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KEGG:H01076
GTR:C1536500
|
3308 (4.0%)
|
Subacute sclerosing leukoencephalitis
|
Nephrotic syndrome
Autosomal recessive inheritance
A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.
Orphanet:2806
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KEGG:H01696
GTR:C0038522
|
3308 (4.0%)
|
Ornithine transcarbamylase deficiency
|
Blindness
X-linked recessive inheritance
Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.
Orphanet:664
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KEGG:H00187
Gene Reviews
GTR:C0268542
|
3308 (4.0%)
|
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
Chorioretinal atrophy
Autosomal recessive inheritance
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.
Orphanet:415
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KEGG:H01268
Gene Reviews
GTR:C0268540
|
3308 (4.0%)
|
Primary hepatic neuroendocrine carcinoma
|
Ptosis
Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.
Orphanet:100085
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|
3308 (4.0%)
|
Intermediate uveitis
|
Proteinuria
Orphanet:279914
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GTR:C0042166
|
3308 (4.0%)
|
Early-onset schizophrenia
|
Behavioral abnormality
A rare, neurologic disease characterized by an early onset of positive and negative symptoms of psychosis that impact development and cognitive functioning. Clinical manifestation commonly include premorbid features of autism spectrum disorders, attention deficits, neurodevelopmental delays, and behavioral abnormalities. After the onset of psychotic symptoms, other comorbidities are also common, including obsessive-compulsive disorder, major depressive disorder, attention deficit hyperactivity disorder, expressive and receptive language disorders, auditory processing deficits, and executive functioning deficits.
Orphanet:96369
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|
3308 (4.0%)
|
Mitochondrial DNA-associated Leigh syndrome
|
Abnormal renal tubule morphology
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
Orphanet:255210
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GTR:C2931092
|
3308 (4.0%)
|
VIPoma
|
Diabetes mellitus
VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).
Orphanet:97282
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GTR:C0011993
GTR:C0086768
|
3308 (4.0%)
|
Hypokalemic periodic paralysis
|
Gynecomastia
A rare disorder characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.
Orphanet:681
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GTR:C0238358
GTR:C0238357
|
3308 (4.0%)
|
Citrullinemia type II
|
Psychosis
A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.
Orphanet:247585
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GTR:C1863844
|
3308 (4.0%)
|
Propionic acidemia
|
Dementia
Autosomal recessive inheritance
Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
Orphanet:35
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KEGG:H00175
Gene Reviews
GTR:C0268579
GTR:C0311298
GTR:C2717876
|
3308 (4.0%)
|
Atypical hemolytic uremic syndrome
|
Renal insufficiency
A rare thrombotic microangiopathy disorder characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.
Orphanet:2134
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GTR:C2931788
|
3308 (4.0%)
|
Non-functioning pituitary adenoma
|
Male hypogonadism
Orphanet:91349
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GTR:C0338078
|
3308 (4.0%)
|
Leigh syndrome with cardiomyopathy
|
Abnormal renal tubule morphology
Orphanet:70474
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|
3308 (4.0%)
|
Ovarian hyperstimulation syndrome
|
Nephritis
Autosomal dominant inheritance
Orphanet:64739
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KEGG:H01039
GTR:C0085083
|
3308 (4.0%)
|
Multiple endocrine neoplasia type 1
|
Impotence
Autosomal dominant inheritance
Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.
Orphanet:652
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KEGG:H00247
KEGG:H01522
Gene Reviews
GTR:C0025267
|
3308 (4.0%)
|
Sheehan syndrome
|
Polyuria
Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis). Secondary hypothyroidism and secondary adrenal insufficiency may also be presenting signs.
Orphanet:91355
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GTR:C0242342
|
3308 (4.0%)
|
Serotonin syndrome
|
Blurred vision
Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).
Orphanet:43116
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GTR:C0699828
|