Ataxia, and Abnormality of the liver

Diseases related with Ataxia and Abnormality of the liver

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.


Top matches:

Low match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


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

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

Low match TYROSINEMIA TYPE 3


Tyrosinemia 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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TYROSINEMIA TYPE 3

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Other less relevant matches:

Low match PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT


Women 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).

Related symptoms:

  • Ataxia
  • Fever
  • Tremor
  • Myalgia
  • Lower limb muscle weakness


SOURCES: OMIM MENDELIAN

More info about PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT

Low match ABETALIPOPROTEINEMIA; ABL


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

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Rod-cone dystrophy
  • Abnormality of the liver
  • Retinopathy


SOURCES: OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA; ABL

Low match HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY


Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Anemia
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY

Low match RIBOSE-5-P ISOMERASE DEFICIENCY


Ribose-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.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RIBOSE-5-P ISOMERASE DEFICIENCY

Low match FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY


Chylomicron 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

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Growth delay
  • Failure to thrive
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY

Low match X-LINKED SIDEROBLASTIC ANEMIA


X-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

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Anemia
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA

Low match PANCREATIC CANCER


Pancreatic 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). Genetic Heterogeneity of Pancreatic CancerSomatic mutations in pancreatic cancer occur in the KRAS (OMIM ), CDKN2A (OMIM ), MADH4 (OMIM ), TP53 (OMIM ), ARMET (OMIM ), STK11 (OMIM ), ACVR1B (OMIM ), and RBBP8 (OMIM ) genes.Susceptibility loci for pancreatic cancer include PNCA1 (OMIM ), related to mutation in the PALLD gene on chromosome 4q32 (OMIM ); PNCA2 (OMIM ), related to mutation in the BRCA2 gene on chromosome 13q12 (OMIM ); PNCA3 (OMIM ), related to mutation in the PALB2 gene on chromosome 16p12 (OMIM ); and PNCA4 (OMIM ), related to mutation in the BRCA1 gene on chromosome 17q21 (OMIM ). Occurrence of Pancreatic Cancer in Other DisordersSeveral familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see {120435}); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (OMIM ); the melanoma-pancreatic cancer syndrome (OMIM ), caused by mutations in CDKN2A (OMIM ); von Hippel-Lindau syndrome (OMIM ), ataxia-telangiectasia (OMIM ) (Swift et al., 1976), and juvenile polyposis syndrome (OMIM ).Patients with hereditary pancreatitis (OMIM ) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1 ) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997).

PANCREATIC CANCER Is also known as pancreatic carcinoma|pancreatic acinar carcinoma

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PANCREATIC CANCER

Top 5 symptoms//phenotypes associated to Ataxia and Abnormality of the liver

Symptoms // 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
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Other less frequent symptoms

Patients with Ataxia and Abnormality of the liver. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Fat malabsorption Steatorrhea Hepatic steatosis Malabsorption Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Anemia Decreased LDL cholesterol concentration Splenomegaly Jaundice Rod-cone dystrophy Muscle weakness Fatigue Decreased liver function Hepatitis Abetalipoproteinemia Acanthocytosis Hepatomegaly Tremor Hypolipidemia Intellectual disability, mild Elevated hepatic transaminase Abnormality of the nervous system Diarrhea Decreased level of erythritol in CSF Hepatosplenomegaly Increased level of ribitol in CSF Increased level of D-threitol in plasma Increased level of xylitol in CSF Dyspnea Growth delay Decreased level of erythritol in urine Pallor Abnormality of blood and blood-forming tissues Malnutrition Impaired vibratory sensation Failure to thrive in infancy Hypoalbuminemia Failure to thrive Reduced tendon reflexes Vomiting Abnormality of the eye Areflexia Macrocytic anemia Vertigo Abdominal pain Pancreatic adenocarcinoma Chronic pancreatitis Neoplasm of the pancreas Exocrine pancreatic insufficiency Ovarian neoplasm Colon cancer Breast carcinoma Melanoma Pancreatitis Telangiectasia Carcinoma Weight loss Diabetes mellitus Falls Pain Neoplasm Thiamine-responsive megaloblastic anemia Abnormality of iron homeostasis Sideroblastic anemia Hypochromic microcytic anemia Anemia of inadequate production Megaloblastic anemia Increased level of D-threitol in CSF Microcytic anemia Glucose intolerance Myelodysplasia Hyperpigmentation of the skin Increased level of D-threitol in urine Decreased glucosephosphate isomerase activity Increased level of ribose in urine Intellectual disability, severe Recurrent spontaneous abortion Increased circulating cortisol level Migraine Lower limb muscle weakness Myalgia Fever 4-Hydroxyphenylacetic aciduria 4-Hydroxyphenylpyruvic aciduria Hypertyrosinemia Drowsiness Cognitive impairment Retinal degeneration Abnormality of movement Mental deterioration Myoclonus Cerebellar atrophy Vitamin D deficiency Vertical supranuclear gaze palsy Slurred speech Cholestasis Dysmetria Gait ataxia Delayed speech and language development Retinopathy Abnormality of skin pigmentation Increased level of ribitol in urine Spontaneous hemolytic crises Increased level of xylitol in urine Elevated circulating ribitol concentration Increased level of ribose in CSF Leukoencephalopathy Sensorimotor neuropathy Polyneuropathy Optic atrophy Dysarthria Spasticity Nystagmus Impaired neutrophil bactericidal activity Pigment gallstones Peripheral demyelination Nonspherocytic hemolytic anemia Cholecystitis Sensory ataxia Cholelithiasis Hydrops fetalis Hemolytic anemia Edema CNS demyelination Cholestatic liver disease Spinocerebellar tract degeneration Abnormality of the coagulation cascade Increased level of L-fucose in urine



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