From HPO
Vascular granular osmiophilic material deposition- MedGen UID:
- 348472
- •Concept ID:
- C1859833
- •
- Finding
Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Depression- MedGen UID:
- 4229
- •Concept ID:
- C0011581
- •
- Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Myoclonus- MedGen UID:
- 10234
- •Concept ID:
- C0027066
- •
- Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Auditory hallucination- MedGen UID:
- 115932
- •Concept ID:
- C0233762
- •
- Sign or Symptom
Perception of sounds without auditory stimulus.
Visual hallucination- MedGen UID:
- 66688
- •Concept ID:
- C0233763
- •
- Sign or Symptom
Visual perception in the absence of a visual stimulus.
Abnormality of extrapyramidal motor function- MedGen UID:
- 115941
- •Concept ID:
- C0234133
- •
- Sign or Symptom
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Mental deterioration- MedGen UID:
- 66713
- •Concept ID:
- C0234985
- •
- Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Cerebral atrophy- MedGen UID:
- 116012
- •Concept ID:
- C0235946
- •
- Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Leukoencephalopathy- MedGen UID:
- 78722
- •Concept ID:
- C0270612
- •
- Disease or Syndrome
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Bilateral tonic-clonic seizure- MedGen UID:
- 141670
- •Concept ID:
- C0494475
- •
- Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Dementia- MedGen UID:
- 99229
- •Concept ID:
- C0497327
- •
- Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Focal-onset seizure- MedGen UID:
- 199670
- •Concept ID:
- C0751495
- •
- Disease or Syndrome
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
Status epilepticus without prominent motor symptoms- MedGen UID:
- 199677
- •Concept ID:
- C0751523
- •
- Disease or Syndrome
There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.
Increased neuronal autofluorescent lipopigment- MedGen UID:
- 892355
- •Concept ID:
- C4025728
- •
- Finding
Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material- MedGen UID:
- 324619
- •Concept ID:
- C1836851
- •
- Finding
An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material- MedGen UID:
- 323011
- •Concept ID:
- C1836852
- •
- Finding
An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material- MedGen UID:
- 338055
- •Concept ID:
- C1850447
- •
- Finding
An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.
- Abnormal cellular phenotype
- Abnormality of the cardiovascular system
- Abnormality of the nervous system