Edema, and Irritability

Diseases related with Edema and Irritability

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

Top matches:

The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. SIADH occurs in a setting of normal blood volume, without evidence of renal disease or deficiency of thyroxine or cortisol. Although usually transient, SIADH may be chronic; it is often associated with drug use or a lesion in the central nervous system or lung. When the cardinal features of SIADH were defined by Bartter and Schwartz (1967), levels of AVP could not be measured. Subsequently, radioimmunoassays revealed that SIADH is usually associated with measurably elevated serum levels of AVP. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP (Feldman et al., 2005).

Related symptoms:

  • Seizures
  • Pain
  • Hypertension
  • Edema
  • Hypoglycemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD

characterized by the deficiency or absence of the enzymes sucrase and isomaltase existing at, and usually before birth; this enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (ie, sucrose) and certain products of starch digestion (dextrins); only evident soon after birth when sucrose or starches, such as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant, breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet.

SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID Is also known as sucrose-isomaltose malabsorption, congenital|disaccharide intolerance i|sucrose intolerance, congenital|si deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID

Diarrhea-6 is a relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis (Fiskerstrand et al., 2012).For a discussion of phenotypic and genetic heterogeneity of congenital diarrhea, see DIAR1 (OMIM ).

Related symptoms:

  • Pain
  • Diarrhea
  • Hernia
  • Abdominal pain
  • Acidosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC DIARRHEA DUE TO GUANYLATE CYCLASE 2C OVERACTIVITY

Other less relevant matches:

Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP ). Approximately 90% of patients are males with the X-linked recessive form, type I (OMIM ), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2 ). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001).Neurogenic, or central, diabetes insipidus (CDI ) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL Is also known as diabetes insipidus, nephrogenic, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL

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

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

NEPHROGENIC DIABETES INSIPIDUS Is also known as ndi|diabetes insipidus, nephrogenic, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROGENIC DIABETES INSIPIDUS

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

Medium match ARGININEMIA

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

ARGININEMIA Is also known as arg1 deficiency|arginase deficiency|hyperargininemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ARGININEMIA

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

ARGININOSUCCINIC ACIDURIA Is also known as argininosuccinic acid lyase deficiency|asa deficiency|argininosuccinase deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|asl deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ARGININOSUCCINIC ACIDURIA

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Is also known as mcc1 deficiency|3-methylcrotonylglycinuria i|mccd|3-methylcrotonylglycinuria|methylcrotonylglycinuria type i|mccd type 1|mcc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Edema and Irritability

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Coma Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Lethargy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Edema and Irritability. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Hyperammonemia Global developmental delay Dehydration Cerebral edema Feeding difficulties in infancy Growth delay Feeding difficulties Diarrhea Pain Alkalosis Aminoaciduria Hyperactivity Short stature Respiratory alkalosis Abdominal pain Hypoargininemia Confusion Encephalopathy Diabetes insipidus Ataxia

Rare Symptoms - Less than 30% cases

Stroke Hyperreflexia Respiratory insufficiency Muscular hypotonia Hepatic steatosis Spasticity Protein avoidance Hepatomegaly Nausea Tetraplegia Cerebral palsy Tachypnea Drowsiness Hepatic fibrosis Decreased liver function Episodic ammonia intoxication Abnormality of the liver Hypertonic dehydration Oroticaciduria Aciduria Anorexia Generalized hypotonia Nausea and vomiting Focal-onset seizure Unexplained fevers Metabolic acidosis Hypertension Hypoglycemia Generalized-onset seizure Failure to thrive in infancy Megacystis Acidosis EEG abnormality Fever Hypernatremia Constipation Polydipsia Nephrogenic diabetes insipidus Polyuria Ketoacidosis Breathing dysregulation Organic aciduria Reduced consciousness/confusion Ketonuria Loss of consciousness Loss of ability to walk Spastic diplegia Hemiplegia/hemiparesis Abnormality of the cerebral vasculature Athetosis Paraparesis Neutrophilia Spastic paraparesis Cystinuria Muscle stiffness Spastic tetraplegia Acute hepatic steatosis Episodic metabolic acidosis Acute hyperammonemia Talipes Respiratory failure Lower limb muscle weakness Paraplegia Limb muscle weakness Spastic paraplegia Poor appetite Progressive spastic quadriplegia Opisthotonus Increased reactive oxygen species production Gastroesophageal reflux Apnea Dystonia Severe global developmental delay Abnormality of movement Hyperglutaminemia Abnormal hair quantity Gliosis Brain atrophy Areflexia Trichorrhexis nodosa Dry hair Hyperventilation Neurological speech impairment Intellectual disability, profound Hemiparesis Brittle hair Intellectual disability, progressive Febrile seizures Involuntary movements Cirrhosis Attention deficit hyperactivity disorder Scarring Alopecia Diaminoaciduria Leukodystrophy Hyperlysinuria Cognitive impairment Psychosis Postnatal growth retardation Intestinal obstruction Hydronephrosis Polyhydramnios Renal insufficiency Low plasma citrulline Decerebrate rigidity Microvesicular hepatic steatosis Focal impaired awareness seizure Generalized tonic-clonic seizures Muscle weakness Vitamin B12 deficiency Volvulus Esophagitis Inflammation of the large intestine Chronic diarrhea Pollakisuria Hernia Abdominal colic Malnutrition Nephrolithiasis Abdominal distention Malabsorption Abnormality of metabolism/homeostasis Inappropriate antidiuretic hormone secretion Decreased serum creatinine Elevated systolic blood pressure Hypernatriuria Decreased circulating renin level Muscle fibrillation Hyponatremia Hydroureter Hypovolemia Developmental regression Restlessness Behavioral abnormality Hypertonia Intellectual disability, severe Gait disturbance Microcephaly Delayed menarche Delirium Mania Enuresis Echolalia Intrahepatic cholestasis Delusions Hepatocellular carcinoma Insomnia Hypoalbuminemia Enuresis nocturna Pancreatitis Hallucinations Cholestasis Hypertriglyceridemia Memory impairment Aggressive behavior Carcinoma Elevated hepatic transaminase Obesity Tremor Hypernatremic dehydration Functional abnormality of the bladder Hyposthenuria Nocturia Abnormality of leucine metabolism


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