Ataxia, and Cholestasis

Diseases related with Ataxia and Cholestasis

In the following list you will find some of the most common rare diseases related to Ataxia and Cholestasis 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 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

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Other less relevant matches:

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

Low match JOUBERT SYNDROME 8; JBTS8


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 8; JBTS8

Low match CLASSIC GALACTOSEMIA


Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

Low match HYDROXYKYNURENINURIA


Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.

HYDROXYKYNURENINURIA Is also known as kynureninase deficiency, partial|kynureninase deficiency|xanthurenic aciduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HYDROXYKYNURENINURIA

Low match CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE


Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Is also known as dihydrofolate reductase deficiency|dhfr deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match NIEMANN-PICK DISEASE, TYPE C2; NPC2


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

Top 5 symptoms//phenotypes associated to Ataxia and Cholestasis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Jaundice Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Splenomegaly Seizures

Rare Symptoms - Less than 30% cases


Progressive encephalopathy Stereotypy Encephalopathy Hepatosplenomegaly Dysarthria Paralysis Hypertonia Muscular hypotonia Mental deterioration Weight loss Fatigue Pain Hemolytic anemia Aphasia Feeding difficulties Spasticity Malabsorption Rod-cone dystrophy Steatorrhea Fat malabsorption Vertical supranuclear gaze palsy Gait ataxia Delayed speech and language development Cirrhosis Hepatic steatosis Methylmalonic aciduria Eyelid myoclonus Absence seizures with eyelid myoclonia Short stature High palate Brachydactyly Visual loss Myopathy Renal insufficiency Central hypotonia Elevated hepatic transaminase Myalgia Intellectual disability, mild Muscular dystrophy Retinal dystrophy Megaloblastic anemia Postnatal microcephaly Poor head control Dilatation Stomatitis Breathing dysregulation Nonprogressive encephalopathy Abnormality of tryptophan metabolism Abnormality of the nervous system Microcephaly Ventriculomegaly Cerebellar atrophy Cerebral atrophy Thrombocytopenia Absence seizures Cerebellar hypoplasia Pallor Delayed myelination Aciduria Neuronal loss in central nervous system Generalized-onset seizure Pancytopenia Cerebellar vermis hypoplasia Migraine Muscle cramps Abnormality of skin pigmentation Tetraparesis Supranuclear gaze palsy Progressive neurologic deterioration Abnormal lung morphology Oral-pharyngeal dysphagia Athetosis Interstitial pulmonary abnormality Prolonged neonatal jaundice Neurofibrillary tangles Loss of speech Visceromegaly Bradykinesia Perseveration Cataplexy Bone-marrow foam cells Fetal ascites Sea-blue histiocytosis Motor aphasia Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Psychosis Neurodegeneration Exercise intolerance Myoglobinuria Abnormality of the respiratory system Purpura Spastic tetraparesis Hemiplegia Emotional lability Rhabdomyolysis Acute kidney injury Reticulocytosis Decreased mean corpuscular volume Dyskinesia Increased muscle fatiguability Recurrent myoglobinuria Exercise-induced muscle cramps Exercise-induced myoglobinuria Dysphagia Respiratory insufficiency Dystonia Dementia Respiratory failure Hyperbilirubinemia Abnormality of the musculature Renal tubular dysfunction Pancreatitis Neoplasm Peripheral neuropathy Hypolipidemia Diabetes mellitus Abdominal pain Vitamin D deficiency Carcinoma Telangiectasia Melanoma Spontaneous hemolytic crises Breast carcinoma Colon cancer Ovarian neoplasm Exocrine pancreatic insufficiency Neoplasm of the pancreas Chronic pancreatitis Pancreatic adenocarcinoma Increased level of L-fucose in urine Impaired neutrophil bactericidal activity Decreased glucosephosphate isomerase activity Obesity Muscle weakness Abnormality of the coagulation cascade Acanthocytosis Spinocerebellar tract degeneration Cholestatic liver disease CNS demyelination Hypocholesterolemia Decreased LDL cholesterol concentration Abetalipoproteinemia Retinal degeneration Pigment gallstones Edema Retinopathy Abnormality of the liver Hydrops fetalis Cholelithiasis Sensory ataxia Cholecystitis Nonspherocytic hemolytic anemia Absent speech Abnormality of the eye Renal tubular acidosis Acidosis Speech apraxia Abnormality of the ovary Decreased fertility in females Speech articulation difficulties Impairment of galactose metabolism Hearing impairment Vomiting Headache Dry skin Abnormal bleeding Tachycardia Metabolic acidosis Coma Hypotension Dysmetria Aminoaciduria Congenital sensorineural hearing impairment Peripheral demyelination Sepsis Hepatic failure Abnormality of eye movement Failure to thrive Pigmentary retinopathy Optic disc pallor Encephalocele Oculomotor apraxia Molar tooth sign on MRI Occipital encephalocele Hyperventilation Undetectable electroretinogram Cataract Abnormality of movement Slurred speech Tremor Gait disturbance Osteoporosis Hypoglycemia Lethargy Nausea and vomiting Low cholesterol esterification rates



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