Seizures, and Dehydration

Diseases related with Seizures and Dehydration

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


Top matches:

Low match PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY


Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

Low match DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL


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

Low match BETA-KETOTHIOLASE DEFICIENCY


Beta-ketothiolase (T2) deficiency is a rare organic aciduria (see this term) affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.

BETA-KETOTHIOLASE DEFICIENCY Is also known as 2-methyl-3-hydroxybutyric acidemia|t2 deficiency|alpha methylacetoacetic aciduria|mitochondrial acetoacetyl-coa thiolase deficiency|3-oxothiolase deficiency|3-ketothiolase deficiency|mitochondrial acetoacetyl-coenzyme a thiolase deficiency|beta-ketothiola

Related symptoms:

  • Intellectual disability
  • Seizures
  • Fatigue
  • Respiratory distress
  • Vomiting


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BETA-KETOTHIOLASE DEFICIENCY

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Other less relevant matches:

Low match NEPHROGENIC DIABETES INSIPIDUS


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

Low match DOPAMINE BETA-HYDROXYLASE DEFICIENCY


Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency|noradrenaline deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

Low match GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4


Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Cryptorchidism
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4

Low match ISOVALERIC ACIDEMIA


Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.

ISOVALERIC ACIDEMIA Is also known as ivd deficiency|isovaleric acid coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOVALERIC ACIDEMIA

Low match VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA Is also known as methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type|vitamin b12-responsive methylmalonic aciduria type cbla|methylmalonic acidemia, cbla type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA

Low match ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY


Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency|acad8 deficiency|acyl-coa dehydrogenase family, member 8, deficiency of|isobutyric aciduria

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Low match VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

Top 5 symptoms//phenotypes associated to Seizures and Dehydration

Symptoms // Phenotype % cases
Vomiting Very Common - Between 80% and 100% cases
Failure to thrive Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Coma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Seizures and Dehydration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Acidosis Muscular hypotonia Hyperglycinemia Aciduria Generalized hypotonia Metabolic acidosis Lethargy Feeding difficulties in infancy Hypoglycemia Methylmalonic aciduria Methylmalonic acidemia Respiratory distress Anemia Hepatomegaly Pancytopenia Thrombocytopenia Ketonuria

Rare Symptoms - Less than 30% cases


Stroke Ketoacidosis Unexplained fevers Megacystis Hypernatremia Nocturia Nephrogenic diabetes insipidus Diabetes insipidus Polyuria Episodic ketoacidosis Cardiomyopathy Polydipsia Hypotension Irritability Hypertonic dehydration Constipation Neutropenia Fever Decreased methylmalonyl-CoA mutase activity Decreased adenosylcobalamin Homocystinuria Hyperammonemia Ketosis Ataxia Short stature Cryptorchidism Precocious puberty Adrenal insufficiency Peripheral pulmonary artery stenosis Apathy Hyponatremia Pyelonephritis Neonatal hyperbilirubinemia Encephalopathy Azoospermia Shock Abnormality of mitochondrial metabolism Multiple myeloma Intermittent hypothermia Retrograde ejaculation Congenital hypothyroidism Hyperpigmentation of the skin Neoplasm Hypertrophic cardiomyopathy Hypothyroidism Hyperkalemia Hypernatriuria Primary adrenal insufficiency Bone marrow hypocellularity Ischemic stroke Organic aciduria Cerebral edema Abnormal myelination Hyperglycinuria Hypothermia Leukopenia Cerebellar hemorrhage Tremor Delayed speech and language development Renal salt wasting Atrial septal defect Dilated cardiomyopathy Pulmonic stenosis Asthma Cardiomegaly Mild global developmental delay Edema Decreased plasma carnitine Hypoglycemic coma Increased circulating renin level Recurrent hypoglycemia Hypernatremic dehydration Neonatal hypoglycemia Postural instability Progressive spastic paraparesis Morphological abnormality of the pyramidal tract Episodic ataxia Progressive spastic paraplegia Brisk reflexes Spastic paraparesis Paraparesis Clonus Diplopia Involuntary movements Choreoathetosis Migraine Dyskinesia Paroxysmal choreoathetosis Paresthesia Paraplegia Generalized tonic-clonic seizures Spastic paraplegia Abnormal pyramidal sign Babinski sign Headache Dystonia Gait disturbance Dysarthria Hyperreflexia Cognitive impairment Spasticity Paroxysmal dyskinesia Fatigue Amyloidosis Pain Orthostatic hypotension Blurred vision Epiphora Abnormal autonomic nervous system physiology Syncope Vertigo Abnormality of the nervous system Myalgia Peripheral neuropathy Hypertension High palate Ptosis Functional abnormality of the bladder Elevated hepatic transaminase Hyposthenuria Enuresis nocturna Hypovolemia Pollakisuria Hydroureter Anorexia Nausea and vomiting Hydronephrosis Polyhydramnios Renal insufficiency Growth delay Loss of consciousness Abnormality of the liver Abnormality of the mitochondrion



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