Cognitive impairment, and Diarrhea

Diseases related with Cognitive impairment and Diarrhea

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


Top matches:

Low match MONOAMINE OXIDASE A DEFICIENCY


Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.

MONOAMINE OXIDASE A DEFICIENCY Is also known as brunner syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cognitive impairment
  • Motor delay
  • Tremor


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MONOAMINE OXIDASE A DEFICIENCY

Low match HYPERINSULINISM DUE TO UCP2 DEFICIENCY


HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

Low match HYPERINSULINISM DUE TO HNF1A DEFICIENCY


Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.

HYPERINSULINISM DUE TO HNF1A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf1a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF1A DEFICIENCY

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Other less relevant matches:

Low match CONGENITAL SHORT BOWEL SYNDROME


Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL SHORT BOWEL SYNDROME

Low match AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY


Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Low match AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY


Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as dominant katp hyperinsulinism due to kir6.2 deficiency|autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY

Low match COMBINED MALONIC AND METHYLMALONIC ACIDEMIA


Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.

COMBINED MALONIC AND METHYLMALONIC ACIDEMIA Is also known as combined malonic and methylmalonic aciduria|cmamma

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED MALONIC AND METHYLMALONIC ACIDEMIA

Low match HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Low match LEBER OPTIC ATROPHY AND DYSTONIA


LEBER OPTIC ATROPHY AND DYSTONIA Is also known as leber hereditary optic neuropathy with dystonia|ldyt|dystonia, familial, with visual failure and striatal lucencies|marsden syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about LEBER OPTIC ATROPHY AND DYSTONIA

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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Diarrhea

Symptoms // Phenotype % cases
Vomiting Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Coma Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Drowsiness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Lethargy Hepatomegaly Pallor Tachycardia Progressive neurologic deterioration Hyperinsulinemia Large for gestational age Agitation Neonatal hypoglycemia Hyperhidrosis Hypoketotic hypoglycemia Pancreatic islet-cell hyperplasia Abnormality of fatty-acid metabolism Tremor Hyperinsulinemic hypoglycemia Secondary growth hormone deficiency Vitamin B1 deficiency Elevated hepatic transaminase Microcephaly Intellectual disability

Rare Symptoms - Less than 30% cases


Short stature Aggressive behavior Increased body weight Memory impairment Hypertriglyceridemia Hyperactivity Failure to thrive Dystonia Abnormal brain FDG positron emission tomography Decreased circulating cortisol level Edema Difficulty walking Dementia Abnormality of the cerebral white matter Peripheral neuropathy Dysphagia Gait disturbance Optic atrophy Skeletal muscle atrophy Enterocolitis Dysarthria Hyperreflexia Visual loss Decreased serum complement factor H Spasticity Azotemia Abnormality of complement system Decreased serum complement factor B Decreased serum complement C3 Schistocytosis Abnormality of eye movement Abnormal lactate dehydrogenase activity Microangiopathic hemolytic anemia Strabismus Anuria Increased blood urea nitrogen Complement deficiency Decreased level of thrombomodulin Hemolytic-uremic syndrome Scoliosis Decreased serum complement factor I Ophthalmoplegia Obesity Increased serum lactate Insomnia Decreased liver function Hallucinations Hepatic fibrosis Pancreatitis Hyperammonemia Hypoalbuminemia Restlessness Hepatocellular carcinoma Psychosis Delusions Intrahepatic cholestasis Echolalia Enuresis Cerebral edema Mania Delirium Delayed menarche Cholestasis Hepatic steatosis Progressive visual loss Scotoma Bradykinesia Involuntary movements Spastic gait Ragged-red muscle fibers Postural tremor Athetosis Generalized amyotrophy Centrally nucleated skeletal muscle fibers Confusion Optic neuropathy Central scotoma Increased CSF lactate Leber optic atrophy Reticulocytosis Carcinoma Irritability Abnormality of the liver Elevated serum creatinine Hypertension Acute kidney injury Intestinal malrotation Gastroesophageal reflux Hypotrichosis Malabsorption Hepatic failure Abdominal distention Sepsis Aganglionic megacolon Neonatal hypotonia Chronic diarrhea Hemivertebrae Pyloric stenosis Dextrocardia Malnutrition Steatorrhea Fasting hypoglycemia Fatigue Volvulus Autism Motor delay Behavioral abnormality Intellectual disability, mild Headache Depressivity Encephalopathy Attention deficit hyperactivity disorder Vitreomacular adhesion Palpitations Self-injurious behavior Impulsivity Flushing Kinetic tremor Low frustration tolerance Violent behavior Lipoatrophy Gastroparesis Abnormality of blood and blood-forming tissues Proteinuria Anemia Fever Cardiomyopathy Renal insufficiency Abnormality of metabolism/homeostasis Thrombocytopenia Stage 5 chronic kidney disease Methylmalonic acidemia Hemolytic anemia Nephropathy Hematuria Hemiparesis Purpura Hyperlipidemia Dysphasia Generalized clonic seizures Methylmalonic aciduria Absent hand Pneumonia Displacement of the external urethral meatus Congenital shortened small intestine Intestinal hypoplasia Decreased intestinal transit time Abnormal peristalsis Generalized hypotonia Acidosis Ketoacidosis Hypoglycemia Muscular hypotonia of the trunk Mental deterioration Apnea Aciduria Dehydration Tachypnea Hypoargininemia



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