In the following list you will find some of the most common rare diseases related to Ataxia and Abnormality of the liver that can help you solving undiagnosed cases.
A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency
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SOURCES: ORPHANET OMIM MENDELIAN
More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.
TYROSINEMIA TYPE 3 Is also known as tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency|4-hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia type iii|4-hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency|tyrosine
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SOURCES: OMIM ORPHANET MENDELIAN
More info about TYROSINEMIA TYPE 3Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines. Rare menstrual cycle-dependent febrile episodes have been reported, some of which have shown a luteal-phase-dependent pattern (summary by Jiang et al., 2012).
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Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL ) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014).
ABETALIPOPROTEINEMIA; ABL Is also known as microsomal triglyceride transfer protein deficiency|acanthocytosis|bassen-kornzweig syndrome|mtp deficiency
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Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.
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SOURCES: OMIM ORPHANET MENDELIAN
More info about HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCYRibose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.
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SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about RIBOSE-5-P ISOMERASE DEFICIENCYChylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999).
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY Is also known as lpl deficiency|anderson disease|andd|lipid transport defect of intestine|hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells
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SOURCES: ORPHANET OMIM MENDELIAN
More info about FAMILIAL LIPOPROTEIN LIPASE DEFICIENCYX-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.
X-LINKED SIDEROBLASTIC ANEMIA Is also known as anemia, hereditary sideroblastic|xlsa|anemia, hypochromic|anemia, sideroblastic, x-linked|anh1|hereditary iron-loading anemia
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SOURCES: ORPHANET OMIM MENDELIAN
More info about X-LINKED SIDEROBLASTIC ANEMIAPancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009).
PANCREATIC CANCER Is also known as pancreatic carcinoma|pancreatic acinar carcinoma
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SOURCES: ORPHANET OMIM MENDELIAN
More info about PANCREATIC CANCERSymptoms // Phenotype | % cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Cirrhosis | Uncommon - Between 30% and 50% cases |
Hypocholesterolemia | Uncommon - Between 30% and 50% cases |
Global developmental delay | Uncommon - Between 30% and 50% cases |
Seizures | Uncommon - Between 30% and 50% cases |
Patients with Ataxia and Abnormality of the liver. may also develop some of the following symptoms:
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