Cardiomyopathy, and Dehydration

Diseases related with Cardiomyopathy and Dehydration

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


Top matches:

Medium match ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11


ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11 Is also known as arvc11|arrhythmogenic right ventricular cardiomyopathy 11

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Dilatation
  • Arrhythmia
  • Hyperkeratosis


SOURCES: MESH OMIM MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11

Medium 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

Medium 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

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Other less relevant matches:

Medium match VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as vlcadd|vlcad deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Medium match JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE


Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE

Medium match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-


Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Medium match SEPTOOPTIC DYSPLASIA


Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Medium match HSD10 MITOCHONDRIAL DISEASE; HSD10MD


HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Medium 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

Medium match PROPIONIC ACIDEMIA


Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Dehydration

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Vomiting Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anemia Feeding difficulties Intellectual disability Generalized hypotonia Hypoglycemia Coma Lethargy Hepatomegaly Dystonia Immunodeficiency Pancreatitis Fever Aciduria Arrhythmia Dilated cardiomyopathy Hyperammonemia Metabolic acidosis Choreoathetosis Encephalopathy Acidosis Stroke Optic atrophy Thrombocytopenia Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases


Cardiomegaly Myopathy Tachypnea Spastic tetraparesis Delayed speech and language development Decreased plasma carnitine Nausea and vomiting Tetraparesis Respiratory insufficiency Syndactyly Osteoporosis Lactic acidosis Developmental regression Cerebral atrophy Dysarthria Respiratory distress Renal insufficiency Abnormality of movement Neutropenia Short stature Nystagmus Neurological speech impairment Nephropathy Cardiac arrest Organic aciduria Hyperglycinemia Hypothyroidism Sudden cardiac death Cryptorchidism Dyspnea Methylmalonic aciduria Precocious puberty Cerebellar hemorrhage Ketonuria Ischemic stroke Pancytopenia Abnormality of immune system physiology Limb hypertonia Dysphagia Tremor Poor appetite Septo-optic dysplasia Cognitive impairment Eczema Decreased circulating luteinizing hormone level Sensorineural hearing impairment Overgrowth Hearing impairment Decreased circulating follicle stimulating hormone level Ketosis Decreased antibody level in blood Feeding difficulties in infancy Pituitary dwarfism Bitemporal hemianopia Postural instability Acute encephalopathy Ectopic posterior pituitary Adrenocorticotropic hormone deficiency Cerebral palsy Optic nerve hypoplasia Diabetes insipidus Short finger Absent septum pellucidum Hypopituitarism Severe vision loss Amniotic constriction ring Panhypopituitarism Colpocephaly Ketoacidosis Cavum septum pellucidum Intolerance to protein Hemianopia Propionyl-CoA carboxylase deficiency Anterior pituitary hypoplasia Increased level of hippuric acid in urine Hyperglycinuria Optic disc hypoplasia Intellectual disability, mild Episodic vomiting Blindness Gait ataxia Apnea Progressive choreoathetosis Hypocalcemia Restlessness Homocystinuria Mitochondrial myopathy Diffuse cerebral atrophy Gastrointestinal dysmotility Loss of ability to walk Abnormal mitochondrial morphology Persistent lactic acidosis Ataxia Athetosis Delayed CNS myelination Fatigue Diabetes mellitus Abnormality of the kidney Stage 5 chronic kidney disease Tubulointerstitial nephritis Macrocytic anemia Leukopenia Paraparesis Agitation Abnormality of mitochondrial metabolism Absent speech Metabolic ketoacidosis Visual loss Myoclonus Cerebral cortical atrophy Muscular hypotonia of the trunk Rigidity Aggressive behavior Constipation Recurrent infections Retinal degeneration Neurodegeneration Drooling Chronic metabolic acidosis Tetraplegia Abnormal globus pallidus morphology Tubulointerstitial abnormality Chorea Spastic tetraplegia Progressive neurologic deterioration Hallucinations Horizontal nystagmus Methylmalonic acidemia Exercise intolerance Hypertension Heterotopia Atrial septal defect Hyponatremia Apathy Adrenal insufficiency Hyperkalemia Congenital hypothyroidism Primary adrenal insufficiency Renal salt wasting Increased circulating renin level Hypoglycemic coma Hypernatriuria Pulmonic stenosis Azoospermia Asthma Mild global developmental delay Peripheral pulmonary artery stenosis Pyelonephritis Neonatal hyperbilirubinemia Muscle weakness Diarrhea Elevated serum creatine phosphokinase Myalgia Irritability Hepatic failure Shock Hyperpigmentation of the skin Progressive muscle weakness Right bundle branch block Dilatation Hyperkeratosis Tachycardia Palmoplantar keratoderma Syncope Palpitations Ventricular tachycardia Ventricular arrhythmia Palmoplantar hyperkeratosis Ventricular fibrillation Bundle branch block Abnormal EKG Hypotension Left bundle branch block Woolly hair Reduced ejection fraction T-wave inversion Right ventricular cardiomyopathy Abnormal echocardiogram Abnormal T-wave Right ventricular dilatation Diffuse palmoplantar hyperkeratosis T-wave inversion in the right precordial leads Neoplasm Hepatic steatosis Infantile muscular hypotonia Growth hormone deficiency Visual impairment Esophageal stricture Laryngeal stenosis Paronychia Laryngeal stridor Congenital localized absence of skin Mitten deformity Junctional split Splenomegaly Abdominal pain Anorexia Growth delay Talipes equinovarus Squamous cell carcinoma of the skin Hypoplasia of the corpus callosum Obesity Agenesis of corpus callosum Severe short stature Polydactyly Micropenis Autism Abnormality of the eye Severe global developmental delay Abnormality of eye movement Talipes Skin erosion Ankyloglossia Rhabdomyolysis Nail dystrophy Myoglobinuria Hypoketotic hypoglycemia Skeletal myopathy Hepatic encephalopathy Dicarboxylic aciduria Exercise-induced myoglobinuria Hepatocellular necrosis Neonatal sepsis Alopecia Respiratory failure Narrow mouth Hypotrichosis Onycholysis Carious teeth Sepsis Nail dysplasia Abnormal blistering of the skin Hypoplasia of dental enamel Hoarse voice Recurrent skin infections Pyloric stenosis Milia Atrophic scars Aplasia cutis congenita Propionicacidemia



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