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1.

Leishmaniasis

Leishmaniasis is a parasitic disease spread by the bite of infected sand flies. There are several different forms of leishmaniasis. The most common are cutaneous and visceral. The cutaneous type causes skin sores. The visceral type affects internal organs such as the spleen, liver, and bone marrow. People with this form usually have fever, weight loss, and an enlarged spleen and liver. . Leishmaniasis is found in parts of about 88 countries. Most of these countries are in the tropics and subtropics. It is possible but very unlikely that you would get this disease in the United States. But you should be aware of it if you are traveling to the Middle East or parts of Central America, South America, Asia, Africa or southern Europe. . Treatment is with medicines that contain antimony, a type of metal, or with strong antibiotics. The best way to prevent the disease is to protect yourself from sand fly bites:. -Stay indoors from dusk to dawn, when sand flies are the most active. -Wear long pants and long-sleeved shirts when outside. -Use insect repellent and bed nets as needed. Centers for Disease Control and Prevention.  [from MedlinePlus]

MedGen UID:
9714
Concept ID:
C0023281
Disease or Syndrome
2.

Mevalonic aciduria

Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (142910). Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; 260920), which is also caused by mutation in the MVK gene (summary by Prietsch et al., 2003). [from OMIM]

MedGen UID:
368373
Concept ID:
C1959626
Disease or Syndrome
3.

Mosaic variegated aneuploidy syndrome

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues (Hanks et al., 2004). The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases. See also MVA2 (614114), caused by mutation in the CEP57 gene (607951) on chromosome 11q21. [from OMIM]

MedGen UID:
338026
Concept ID:
C1850343
Disease or Syndrome
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