Ataxia, and Abdominal pain

Diseases related with Ataxia and Abdominal pain

In the following list you will find some of the most common rare diseases related to Ataxia and Abdominal pain that can help you solving undiagnosed cases.


Top 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 SPINOCEREBELLAR ATAXIA TYPE 25


Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 25 Is also known as sca25

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 25

Low match CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY


Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.

CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY Is also known as carbamoyl phosphate synthetase i deficiency|carbamoyl-phosphate synthetase deficiency|cps i deficiency|carbamoyl-phosphate synthetase i deficiency|cps1 deficiency|cps1d

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY

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Other less relevant matches:

Low match NEUROBLASTOMA


Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

Low match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B


Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Low match LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO


Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).

Related symptoms:

  • Ataxia
  • Neoplasm
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

Low match DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD


DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD ), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001).

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD Is also known as maple syrup urine disease, type iii|e3 deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|dld deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Low match HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS


Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

Low match GITELMAN SYNDROME; GTLMNS


Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

Top 5 symptoms//phenotypes associated to Ataxia and Abdominal pain

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Peripheral neuropathy Global developmental delay Failure to thrive Nausea and vomiting Fever Generalized hypotonia Growth delay Confusion Lethargy Generalized muscle weakness Nausea Encephalopathy Neoplasm Muscular hypotonia Hearing impairment Arthralgia

Rare Symptoms - Less than 30% cases


Decreased liver function Hypertension Attention deficit hyperactivity disorder Respiratory insufficiency Vertigo Intellectual disability Migraine Anorexia Hypoglycemia Respiratory failure Constipation Short stature Hypokalemia Restrictive ventilatory defect Gastrointestinal dysmotility Strabismus Weight loss Jaundice Hemoptysis Pancreatitis Microcephaly Hypotension Motor delay Cardiomyopathy Hematuria Lymphadenopathy Cough Myalgia Proteinuria Myopathy Alkalosis Renal insufficiency Splenomegaly Gait ataxia Headache Hepatomegaly Arrhythmia Sensory neuropathy Hypomagnesemia Neonatal hypoglycemia Poor suck Apathy Organic aciduria Brisk reflexes Opisthotonus Hypothermia Exertional dyspnea Polycythemia Lactic acidosis Incoordination Tremor Pericarditis Pulmonary infiltrates Myocarditis Chronic lung disease Reduced consciousness/confusion Recurrent pharyngitis Abnormality of the pleura Chills Endocarditis Feeding difficulties Optic atrophy Blindness Progressive neurologic deterioration Hypertonia Dystonia Hyperactivity Acidosis Elevated hepatic transaminase Hypertrophic cardiomyopathy Abnormality of the liver Prolonged prothrombin time Hepatic failure Metabolic acidosis Aciduria Intention tremor Severe lactic acidosis Recurrent bacterial infections Vegetative state Ventricular arrhythmia Prolonged QT interval Blurred vision Polyuria Polydipsia Hypercalciuria Hyperkinesis Ventricular tachycardia Episodic fever Cardiac arrest Inflammatory abnormality of the skin Palpitations Dehydration Muscle cramps Postural instability Nephropathy Rhabdomyolysis Hyperventilation Paresthesia Hypocalciuria Renal magnesium wasting Hypochloremia Renal potassium wasting Nocturia Hypokalemic metabolic alkalosis Hypokalemic alkalosis Hypovolemia Renal salt wasting Pollakisuria Periodic paralysis Increased circulating renin level Metabolic alkalosis Tetany Enuresis Chondrocalcinosis Tachycardia Delayed puberty Methemoglobinemia Lymphoma Cerebral palsy Cranial nerve paralysis Joint dislocation Conjunctivitis Vasculitis Meningitis Ascites Urticaria Pruritus Skin rash Autoimmunity Arthritis Dyspnea Sensorineural hearing impairment Recurrent encephalopathy Reduced tendon reflexes Pleural effusion Paralysis Angioedema Erythema Anxiety Small vessel vasculitis Obstructive lung disease Episcleritis Immunologic hypersensitivity Complement deficiency Inflammatory abnormality of the eye Nephritis Uveitis Irregular hyperpigmentation Glomerulopathy Abnormal heart valve morphology Pericardial effusion Emphysema Hemiplegia/hemiparesis Cellulitis Bilateral talipes equinovarus Hyponatremia Coma Spastic dysarthria Decreased number of large peripheral myelinated nerve fibers Diffuse cerebellar atrophy Facial myokymia Impaired distal tactile sensation Abolished vibration sense Facial tics Abnormal morphology of the cerebellar cortex Irritability Stroke Generalized tonic-clonic seizures Hepatic steatosis Focal-onset seizure Tics Generalized-onset seizure Aminoaciduria Hyperammonemia Focal impaired awareness seizure Diabetes insipidus Cerebral edema Microvesicular hepatic steatosis Decerebrate rigidity Respiratory alkalosis Hypoargininemia Protein avoidance Episodic ammonia intoxication Areflexia of lower limbs EMG: neuropathic changes Anemia Scoliosis Diabetes mellitus Carcinoma Telangiectasia Melanoma Breast carcinoma Colon cancer Ovarian neoplasm Exocrine pancreatic insufficiency Neoplasm of the pancreas Chronic pancreatitis Pancreatic adenocarcinoma Increased level of L-fucose in urine Nystagmus Episodic abdominal pain Visual impairment Dysarthria Cerebellar atrophy Areflexia Babinski sign Pes cavus Reduced visual acuity Distal sensory impairment Progressive cerebellar ataxia Urinary urgency Decreased number of peripheral myelinated nerve fibers Impaired pain sensation Low plasma citrulline Myoclonus Encephalitis Mitochondrial myopathy Abnormality of the cerebral white matter Ophthalmoplegia Malabsorption Unsteady gait Abdominal distention Hepatic fibrosis External ophthalmoplegia Leukoencephalopathy Ragged-red muscle fibers Cachexia Malnutrition Celiac disease Progressive external ophthalmoplegia Talipes equinovarus Slender build Sensory ataxic neuropathy Respiratory distress Pneumonia Sepsis Chest pain Hepatitis Abnormal lung morphology Hallucinations Lymphopenia Bone marrow hypocellularity Shock Ventriculomegaly Low-set ears Cafe-au-lait spot Opsoclonus Bone pain Abnormality of the thorax Neurofibromas Neuroblastoma Spinal cord compression Skin nodule Paraganglioma Ganglioneuroma Neoplasm of the nervous system Horner syndrome Ganglioneuroblastoma Adrenal calcification Abdominal mass Abnormality of mitochondrial metabolism Elevated urinary dopamine Elevated urinary catecholamines Elevated urinary homovanillic acid Elevated urinary vanillylmandelic acid Cognitive impairment Behavioral abnormality Hyperhidrosis Autism Photophobia Pallor Abnormal autonomic nervous system physiology Exercise intolerance Salt craving



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