Rare Diseases

What is Pseudohypoparathyroidism type 1A (PHP1A) Pseudohypoparathyroidism type 1A (PHP1a) is a rare hormonal disorder. Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism occurs when your body is unable to respond to parathyroid hormone, a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. What is the prevalence? The …

Pseudohypoparathyroidism type 1A (PHP1A) – 67 Symptoms, Signs and Prognosis Read More »

What is Mental Retardation X Linked 12 ( MRX12 ) (MRX35) Mental Retardation X Linked 12 is a rare genetic disorder due to a mutation in THOC2 Synonyms X-linked intellectual disability, Gu type MRX35 MRX12 Inheritance This condition is X linked recessive inheritance Etiology This condition is caused by mutation in the THO complex, subunit …

Mental Retardation X Linked 12 (MRX12) (MRX35) – 19 Symptoms and Signs Read More »

What is Acute Bilineal Leukemia (ABL) Acute Bilineal Leukemia Is a Very Rare disorder This condition is prevalent in Childhood. It accounts for less than 0.3 % of all acute leukemia cases. Surprisingly, the same genetic changes can be identified in both clonal populations making the “true” ABL even rarer. FC in combination with morphology …

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What is Acute Biphenotypic Leukemia (BAL) BAL is a rare type of leukaemia. Biphenotypic acute leukemia is a combination of two types of acute leukemias, they are acute myeloid leukaemia (AML) and acute lymphoblastic leukaemia (ALL). Etiology The exact cause of BAL is unknown Prognosis of BAL Prognosis of Acute Biphenotypic Leukemia is poor. But …

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What is Turner Syndrome Turner syndrome is a rare genetic disorder which is chromosomal. This syndrome usually affects female gender. The characteristics of Turner syndrome include partial or total loss of one of the secondary sex chromosomes, which is called as monosomy.  Synonyms 45 X syndrome Bonnevie-Ullrich syndrome Monosomy X Ullrich-Turner syndrome 46,XX syndrome Symptoms …

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What is Lichen Sclerosis Lichen sclerosus is a type of skin disease. This condition is a chronic inflammatory disease. The disorder most commonly affects women either before puberty or may be after menopause. Rarely, Lichen sclerosus has been reported in men. Symptoms of Lichen Sclerosis Intense itching, burning, and pain around external genitalia (vulva or …

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What is Addisons Disease (AD) Addisons Disease is a rare endocrine disorder. Usually this condition is chronic i nature. This disorder is due to autoimmune destruction of a structure in a gland in the body known as adrenal gland, this structure is the adrenal cortex. This process leads to deficiency of certain hormones called glucocorticoid …

Addisons Disease (AD) – 49 Symptoms and Signs, Prevalence, Prognosis, Treatment Read More »