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1.

Fabry disease

Fabry disease results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A) and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, males with greater than 1% a-Gal A activity may have: (1) a cardiac variant phenotype that usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy and arrhythmia, and proteinuria, but without ESRD; or (2) a renal variant phenotype, associated with ESRD but without the skin lesions or pain; or (3) cerebrovascular disease presenting as stroke or transient ischemic attack. [from GTR]

MedGen UID:
8083
Concept ID:
C0002986
Disease or Syndrome
2.

Hutchinson-Gilford syndrome

Hutchinson-Gilford progeria syndrome encompasses a spectrum of clinical features that typically develop in childhood and resemble some features of accelerated aging. Although signs and symptoms vary in age of onset and severity, they are remarkably consistent overall. Children with Hutchinson-Gilford progeria syndrome (HGPS) usually appear normal at birth. Profound failure to thrive occurs during the first year. Characteristic facies, with receding mandible, narrow nasal bridge and pointed nasal tip develop. During the first to third year the following usually become apparent: partial alopecia progressing to total alopecia, loss of subcutaneous fat, progressive joint contractures, bone changes, nail dystrophy, and abnormal tightness and/or small soft outpouchings of the skin over the abdomen and upper thighs, and delayed primary tooth eruption. Later findings include low-frequency conductive hearing loss, dental crowding, and partial lack of secondary tooth eruption. Additional findings present in some but not all affected individuals include photophobia, excessive ocular tearing, exposure keratitis, and Raynaud phenomenon. Motor and mental development is normal. Death occurs as a result of complications of severe atherosclerosis, either cardiac disease (myocardial infarction) or cerebrovascular disease (stroke), generally between ages six and 20 years. Average life span is approximately 14.6 years. [from GTR]

MedGen UID:
46123
Concept ID:
C0033300
Disease or Syndrome
3.

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and the cardiovascular and gastrointestinal systems. Individuals most commonly present with papules in the skin and/or with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage. Rarely, individuals may present with vascular signs and symptoms, such as gastrointestinal bleeding, angina, or intermittent claudication. The most frequent cause of morbidity and disability in PXE is reduced vision from macular hemorrhage and disciform scarring of the macula. Most affected individuals live a normal life span. [from GTR]

MedGen UID:
18733
Concept ID:
C0033847
Disease or Syndrome
4.

Cholestanol storage disease

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show cognitive impairment from early infancy, whereas the majority have normal or only slightly impaired intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the 20s in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid, increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid. [from GTR]

MedGen UID:
116041
Concept ID:
C0238052
Disease or Syndrome
5.

Familial type 3 hyperlipoproteinemia

Hyperlipoproteinemia type III, also called dysbetalipoproteinemia, is characterized by hyperlipidemia due to accumulation of remnants of the triglyceride (TG)-rich lipoproteins (TGRL), very low density lipoporteins (VLDL), and chylomicrons (CM), in response to dysfunctional genetic variants of apolipolipoprotein E or absence of apoE (summary by Blum, 2016). [from GTR]

MedGen UID:
9364
Concept ID:
C0020479
Disease or Syndrome
6.

APOE KYOTO

MedGen UID:
865864
Concept ID:
C4017427
Finding
7.

APOE SENDAI

MedGen UID:
865863
Concept ID:
C4017426
Finding
8.

APOE2-FUKUOKA

MedGen UID:
865862
Concept ID:
C4017425
Finding
9.

APOE3(-)-KOCHI

MedGen UID:
865861
Concept ID:
C4017424
Finding
10.

APOE3-WASHINGTON

MedGen UID:
865860
Concept ID:
C4017423
Finding
11.

APOE-SUITA

MedGen UID:
865859
Concept ID:
C4017422
Finding
12.

APOE4(+)

MedGen UID:
864318
Concept ID:
C4015881
Finding
13.

APOE2 VARIANT

MedGen UID:
864317
Concept ID:
C4015880
Finding
14.

APOE3 VARIANT

MedGen UID:
864316
Concept ID:
C4015879
Finding
15.

APOE4 VARIANT

MedGen UID:
864315
Concept ID:
C4015878
Finding
16.

APOE3(-)-FREIBURG

MedGen UID:
864314
Concept ID:
C4015877
Finding
17.

APOE3 ISOFORM

MedGen UID:
864308
Concept ID:
C4015871
Finding
18.

APOE2-DUNEDIN

MedGen UID:
864306
Concept ID:
C4015869
Finding
19.

Dysbetalipoproteinemia due to apoe2

MedGen UID:
864305
Concept ID:
C4015868
Finding
20.

APOLIPOPROTEINEMIA E1

MedGen UID:
864303
Concept ID:
C4015866
Finding
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