Ataxia, and Pancreatitis

Diseases related with Ataxia and Pancreatitis

In the following list you will find some of the most common rare diseases related to Ataxia and Pancreatitis 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 PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS


PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

Low match PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY


Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.

PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY Is also known as 2,4-dienoyl-coa reductase deficiency|decr deficiency with hyperlysinemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY

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Other less relevant matches:

Low match CLASSIC MAPLE SYRUP URINE DISEASE


Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency|classic branched-chain ketoaciduria|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic msud|bckd deficiency|classic bckd deficiency|branched-chain ketoaciduria|branched-chain alpha-keto acid dehydroge

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC MAPLE SYRUP URINE DISEASE

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 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Low match METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Low match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY


Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Top 5 symptoms//phenotypes associated to Ataxia and Pancreatitis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Nausea and vomiting Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Vomiting Fever Spasticity Intellectual disability Diabetes mellitus Fatigue Hypoplasia of the corpus callosum Peripheral neuropathy Renal insufficiency Failure to thrive Irritability Postural instability Coma Lethargy Confusion Acidosis Hypertonia Generalized hypotonia Muscular hypotonia Growth delay Pain Abdominal pain Weight loss Hyperreflexia Babinski sign Gait ataxia Neoplasm Stroke

Rare Symptoms - Less than 30% cases


Uveitis Neurological speech impairment Alopecia Gait disturbance Hepatic failure Lactic acidosis Nausea Ophthalmoplegia Spastic tetraparesis Tetraparesis Hypoglycemia Glaucoma Respiratory failure Hyperactivity Encephalopathy Lower limb spasticity Abnormal facial shape Hypogonadism Hepatitis Memory impairment Hallucinations Hypospadias Pulmonary infiltrates Hemoptysis Pericarditis Encephalitis Anorexia Iridocyclitis Migraine Chest pain Lymphadenopathy Myalgia Endocarditis Arthralgia Splenomegaly Diarrhea Respiratory distress Respiratory insufficiency Episodic ataxia Ketonuria Aciduria Hyperammonemia Increased intracranial pressure Cough Cerebral edema Difficulty walking Carcinoma Microcephaly Ventriculomegaly Cerebellar atrophy Dystonia Hypotension Micrognathia Organic aciduria Paresthesia Cataract Choreoathetosis Retinopathy Abnormal involuntary eye movements Jaundice Increased inflammatory response Arachnodactyly Infertility Rigidity Hypothyroidism Truncal ataxia Myoclonus Unsteady gait Iritis Dysphagia Retrobulbar optic neuritis Orchitis Tremor Cerebellar hypoplasia Peripheral axonal neuropathy Postural tremor Horizontal nystagmus Adducted thumb Distal amyotrophy Sensory neuropathy Progressive cerebellar ataxia Dysarthria External ophthalmoplegia Posterior uveitis Type II diabetes mellitus Oculomotor apraxia Limb ataxia Anterior uveitis Type I diabetes mellitus Superficial thrombophlebitis Abdominal obesity Cognitive impairment Inability to walk Full cheeks Broad nasal tip Decreased level of D-mannose in urine Tapered finger Downturned corners of mouth Thick vermilion border Long face Growth hormone deficiency Poor speech Delayed puberty Severe global developmental delay Small for gestational age Attention deficit hyperactivity disorder Cleft lip Muscular hypotonia of the trunk Round face Sloping forehead Hearing impairment Large earlobe Tall chin Birth length less than 3rd percentile Panuveitis Gaze-evoked nystagmus Genital ulcers Male hypogonadism Depressed nasal tip Hypoplasia of penis External genital hypoplasia Agitation Drooling Widely spaced teeth Progressive microcephaly Epididymitis Open mouth Sensory axonal neuropathy Myocardial infarction Ankle clonus Photophobia Autoimmunity Scarring Joint stiffness Erythema Developmental regression Arthritis Dyspnea Epiphora Reduced visual acuity Glomerulopathy Keratoconjunctivitis sicca Aggressive behavior Visual loss Dilatation Blurred vision Inflammation of the large intestine Pulmonary embolism Malabsorption Gastrointestinal hemorrhage Hemiparesis Mitral regurgitation Subcutaneous nodule Meningitis Vertigo Vasculitis Acne Aortic regurgitation Cranial nerve paralysis Venous thrombosis Papule Abnormal pyramidal sign Pleural effusion Rheumatoid arthritis Behavioral abnormality Aseptic necrosis Colitis Head tremor Speech apraxia Impaired proprioception Ulcerative colitis Corpus callosum atrophy Erythema nodosum Immunologic hypersensitivity Hypoplasia of the pons Delayed menarche Progeroid facial appearance Oligomenorrhea Hand tremor Retinal atrophy Abnormal blistering of the skin Optic neuritis Hyperactive deep tendon reflexes Saccadic smooth pursuit Thrombophlebitis Pustule Abnormal myocardium morphology Gangrene Raynaud phenomenon Myositis Blindness Abnormal motor evoked potentials Cerebral ischemia Abnormality of the sella turcica Pleuritis Arterial thrombosis Recurrent aphthous stomatitis Stomatitis Parietal cortical atrophy Old-aged sensorineural hearing impairment Alopecia areata Oral ulcer Chorioretinitis Thrombocytopenia EEG abnormality Abnormality of carnitine metabolism Feeding difficulties in infancy Anxiety Osteoporosis Depressivity Hypertension Feeding difficulties Stress/infection-induced lactic acidosis Otitis media Decreased activity of NADPH oxidase Abnormal basal ganglia MRI signal intensity Hyperlysinemia Central sleep apnea Progressive spastic quadriplegia Nonprogressive cerebellar ataxia Decreased plasma carnitine Tetraplegia Spastic tetraplegia Progressive encephalopathy Arrhythmia Lymphopenia Abnormal lung morphology Sepsis Hematuria Proteinuria Pneumonia Muscle weakness Cerebral palsy Elevated plasma branched chain amino acids Increased level of hippuric acid in urine Ketoacidosis Ketosis Opisthotonus Impulsivity Growth abnormality Aspiration pneumonia Renal tubular acidosis Shock Pancreatic adenocarcinoma Distal sensory impairment Dysmetria Lower limb muscle weakness Congenital cataract Rod-cone dystrophy Increased level of L-fucose in urine Chronic pancreatitis Epidermal acanthosis Neoplasm of the pancreas Exocrine pancreatic insufficiency Ovarian neoplasm Colon cancer Breast carcinoma Melanoma Telangiectasia Pigmentary retinopathy Hypertriglyceridemia Leukodystrophy Orthostatic hypotension Cerebral visual impairment Neonatal hypotonia Decreased adipose tissue around neck Lack of facial subcutaneous fat Loss of subcutaneous adipose tissue in limbs Absence of subcutaneous fat Brisk reflexes Abnormality of the face Glucose intolerance Lipodystrophy Hypercholesterolemia Hyperlipidemia Acanthosis nigricans Clonus Insulin resistance Bone marrow hypocellularity Hyponatremia Macrotia Ischemic stroke Hyperglycinemia Homocystinuria Methylmalonic aciduria Delayed CNS myelination Tubulointerstitial nephritis Macrocytic anemia Leukopenia Tubulointerstitial abnormality Paraparesis Pancytopenia Dehydration Metabolic acidosis Nephropathy Stage 5 chronic kidney disease Abnormality of the kidney Methylmalonic acidemia Abnormal globus pallidus morphology Cardiomyopathy Talipes equinovarus Autism Micropenis Obesity Absent speech Long philtrum Intellectual disability, severe Myopia Cerebellar hemorrhage Delayed speech and language development Cryptorchidism Cleft palate Strabismus Short stature Metabolic ketoacidosis Chronic metabolic acidosis Immunodeficiency Optic atrophy Restrictive ventilatory defect Epicanthus Polydactyly Abnormal heart morphology Abnormality of cardiovascular system morphology Cerebral atrophy Edema Anteverted nares Depressed nasal bridge Mental deterioration Chills Abnormality of the pleura Recurrent pharyngitis Reduced consciousness/confusion Chronic lung disease Myocarditis Cellulitis Thin upper lip vermilion Smooth philtrum Hepatomegaly Respiratory alkalosis Anemia Low plasma citrulline Episodic ammonia intoxication Hyperglutaminemia Protein avoidance Hypoargininemia Oroticaciduria Postaxial polydactyly Paranoia Wide nasal base Episodic vomiting Alkalosis Acute hepatic failure Thick lower lip vermilion Gliosis Hypopyon



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