Cognitive impairment, and Pancreatitis

Diseases related with Cognitive impairment and Pancreatitis

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Pancreatitis that can help you solving undiagnosed cases.


Top matches:

Low match CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1


Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989).Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' Genetic Heterogeneity of Benign Recurrent Intrahepatic CholestasisSee also BRIC2 (OMIM ), caused by mutation in the ABCB11 gene (OMIM ) on chromosome 2q24.

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 Is also known as summerskill syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Neoplasm
  • Failure to thrive
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1

Low match CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2


Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency

Related symptoms:

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Low match HYPERLIPOPROTEINEMIA, TYPE I


HYPERLIPOPROTEINEMIA, TYPE I Is also known as lpl deficiency|hyperchylomicronemia, familial|lipase d deficiency|lipd deficiency|lipoprotein lipase deficiency|hyperlipemia, essential familial|chylomicronemia, familial|hyperlipemia, idiopathic, burger-grutz type|hyperlipoproteinemia, type ia

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Pain
  • Anemia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE I

Low match LYSINURIC PROTEIN INTOLERANCE


Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

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 GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

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 Cognitive impairment and Pancreatitis

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertriglyceridemia Vomiting Cirrhosis Intellectual disability Irritability Hepatic steatosis Failure to thrive Memory impairment Confusion Carcinoma Coma Short stature Renal insufficiency Hyperammonemia Nausea and vomiting Ataxia Growth delay Peripheral neuropathy Acute pancreatitis Nephrolithiasis Hypertension Anemia Hyperlipidemia Jaundice Neoplasm Malabsorption

Rare Symptoms - Less than 30% cases


Long foot Large hands Skeletal muscle hypertrophy High pitched voice Polyphagia Lipoatrophy Postural instability Bone cyst Hyperinsulinemia Generalized lipodystrophy Decreased fertility in females Congenital generalized lipodystrophy Decreased serum leptin Clitoral hypertrophy Lipodystrophy Insulin-resistant diabetes mellitus at puberty Polycystic ovaries Acanthosis nigricans Accelerated skeletal maturation Insulin resistance Tall stature Uveitis Abnormality of the genital system Hypertrichosis Epidermal acanthosis Triangular face Hirsutism Hypertrophic cardiomyopathy Umbilical hernia Macrotia Glaucoma Reduced intrathoracic adipose tissue Labial hypertrophy Arthritis Abnormal bleeding Hearing impairment Osteopenia Glomerulopathy Acidosis Venous thrombosis Dilatation Diabetes mellitus Autoimmunity Osteoporosis Nephropathy Oligomenorrhea Muscular hypotonia Lipemia retinalis Chronic pancreatitis Metabolic acidosis Hyperhidrosis Iridocyclitis Cystic angiomatosis of bone Alopecia Generalized muscular appearance from birth Pain Gait disturbance Abdominal pain Impaired proprioception Hepatosplenomegaly Retinopathy Hyperreflexia Nausea Atherosclerosis Hernia Mandibular prognathia Prominent umbilicus Intellectual disability, mild Aciduria Intrahepatic cholestasis Cerebral edema Delayed menarche Hypoargininemia Global developmental delay Spasticity Headache Cholestasis Hepatocellular carcinoma Abnormality of the liver Stroke Hepatic failure Tremor Protein avoidance Edema Cardiomyopathy Delayed skeletal maturation Lethargy Oroticaciduria Breathing dysregulation Increased inflammatory response Enterocolitis Hypercalciuria Chronic kidney disease Hepatitis Nephrocalcinosis Epistaxis Chorioretinitis Full cheeks Hematuria Iritis Skeletal myopathy Portal hypertension Elevated alkaline phosphatase Hyperuricemia Xanthomatosis Gout Enlarged kidney Protuberant abdomen Anterior uveitis Renal tubular acidosis Fasting hypoglycemia Glomerulosclerosis Optic neuritis Prolonged bleeding time Decreased muscle mass Focal segmental glomerulosclerosis Posterior uveitis Neoplasm of the liver Retrobulbar optic neuritis Panuveitis Orchitis Hyperactive deep tendon reflexes Corpus callosum atrophy Head tremor Hypoplasia of the pons Progeroid facial appearance Hand tremor Retinal atrophy Colitis Speech apraxia Ankle clonus Gaze-evoked nystagmus Sensory axonal neuropathy Postural tremor Adducted thumb External ophthalmoplegia Ulcerative colitis Saccadic smooth pursuit Superficial thrombophlebitis Recurrent infections Lactic acidosis Delayed puberty Proteinuria Pyelonephritis Hypoglycemia Recurrent respiratory infections Genital ulcers Decreased level of D-mannose in urine Myopathy Epididymitis Abnormal motor evoked potentials Abnormality of the sella turcica Parietal cortical atrophy Old-aged sensorineural hearing impairment Abnormal involuntary eye movements Immunologic hypersensitivity Decreased glomerular filtration rate Erythema nodosum Type I diabetes mellitus Hemoptysis Abnormal blistering of the skin Pulmonary embolism Aseptic necrosis Pustule Pulmonary infiltrates Gangrene Keratoconjunctivitis sicca Raynaud phenomenon Myositis Gastrointestinal hemorrhage Migraine Chest pain Vertigo Cerebral ischemia Pericarditis Myocardial infarction Lymphadenopathy Aortic regurgitation Hemiparesis Mitral regurgitation Subcutaneous nodule Anorexia Meningitis Vasculitis Cranial nerve paralysis Blurred vision Increased intracranial pressure Encephalitis Pleural effusion Rheumatoid arthritis Acne Inflammation of the large intestine Epiphora Abnormal myocardium morphology Arterial thrombosis Hypoglycemic seizures Hepatocellular adenoma Fatigue Oral ulcer Fever Cataract Pleuritis Hypocitraturia Doll-like facies Behavioral abnormality Distal renal tubular acidosis Chronic hepatitis Hepatoblastoma Thrombophlebitis Intermittent diarrhea Xanthelasma Microalbuminuria Blindness Visual loss Paresthesia Joint stiffness Recurrent aphthous stomatitis Papule Stomatitis Alopecia areata Cough Abnormal pyramidal sign Scarring Erythema Weight loss Developmental regression Myalgia Photophobia Arthralgia Endocarditis Dyspnea Reduced visual acuity Oculomotor apraxia Glomerulonephritis Horizontal nystagmus Wide nasal base Decreased fertility Low plasma citrulline Episodic ammonia intoxication Hyperglutaminemia Respiratory alkalosis Paranoia Episodic vomiting Visual impairment Episodic ataxia Alkalosis Acute hepatic failure Thick lower lip vermilion Gliosis Postaxial polydactyly Thick hair Depressivity Mental deterioration Steatorrhea Precocious atherosclerosis Foam cells Peritonitis Acanthocytosis Peripheral arterial stenosis Episodic abdominal pain Glucose intolerance Areflexia Back pain EMG: myopathic abnormalities Hypercholesterolemia Abdominal distention Skin rash Pallor Dementia Smooth philtrum Thin upper lip vermilion Hyperlipoproteinemia Increased serum bile acid concentration Decreased liver function Psychosis Aggressive behavior Hyperactivity Obesity Intrahepatic cholestasis with episodic jaundice Intermittent jaundice Hepatic fibrosis Abnormal thrombocyte morphology Biliary cirrhosis Conjugated hyperbilirubinemia Abnormality of coagulation Reduced bone mineral density Hypocalcemia Pruritus Hallucinations Hypoalbuminemia Polydactyly Epicanthus Abnormal heart morphology Encephalopathy Hypospadias Abnormality of cardiovascular system morphology Cerebral atrophy Anteverted nares Depressed nasal bridge Restlessness Delirium Mania Enuresis Echolalia Delusions Insomnia Drowsiness Hypocholesterolemia Chills Truncal ataxia Abnormal facial shape Babinski sign Hypertonia Cerebellar atrophy Hypoplasia of the corpus callosum Dysphagia Dysarthria Nystagmus Myoclonus Glioma Abnormality of the ovary Angina pectoris Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Congestive heart failure Asterixis Cerebellar hypoplasia Hypogonadism Ornithinuria Peripheral axonal neuropathy Limb ataxia Lower limb spasticity Type II diabetes mellitus Progressive cerebellar ataxia Sensory neuropathy Distal amyotrophy Unsteady gait Gait ataxia Arachnodactyly Infertility Ophthalmoplegia Neurological speech impairment Rigidity Difficulty walking Hypothyroidism Argininuria Pulmonary hemorrhage Hypersplenism Generalized hypotonia Thrombocytopenia Intellectual disability, severe Respiratory insufficiency Skeletal muscle atrophy Feeding difficulties Muscle weakness Lactescent serum Stage 5 chronic kidney disease Abnormality of vitamin metabolism Increased hepatocellular lipid droplets Pancreatic calcification Increased circulating chylomicron concentration Recurrent pancreatitis Eruptive xanthomas Intestinal bleeding Sparse hair Recurrent fractures Alveolar proteinosis Malnutrition Psychotic episodes Hyperlysinuria Micronodular cirrhosis Hemophagocytosis Increased serum ferritin Truncal obesity Abnormality of the coagulation cascade Brain atrophy Systemic lupus erythematosus Hyperextensible skin Cutis laxa Leukopenia Aminoaciduria Fine hair Increased serum lactate Hypopyon



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Situs inversus totalis, related diseases and genetic alterations Congestive heart failure and Basal cell carcinoma, related diseases and genetic alterations Wide nasal bridge and Long philtrum, related diseases and genetic alterations Edema and Headache, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more