Cardiomyopathy, and Febrile seizures

Diseases related with Cardiomyopathy and Febrile seizures

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

Top matches:

Medium match MALONIC ACIDURIA

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Other less relevant matches:

Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease|pap, reunion island type|pulmonary alveolar proteinosis, reunion island type|hereditary pulmonary alveolar proteinosis with hepatic involvement

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Vomiting
  • Encephalopathy
  • Jaundice


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A

Childhood absence epilepsy is a subtype of idiopathic generalized epilepsy. For a general phenotypic description and a discussion of genetic heterogeneity of childhood absence epilepsy and idiopathic generalized epilepsy, see ECA1 (OMIM ) and (OMIM ), respectively.

Related symptoms:

  • Seizures
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Febrile seizures

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Encephalopathy Generalized hypotonia Hypoglycemia Short stature Lactic acidosis Intrauterine growth retardation Hyperreflexia Congestive heart failure Intellectual disability Dilated cardiomyopathy Ataxia Increased serum lactate Growth delay Micrognathia Abnormal facial shape Muscle weakness Spasticity Failure to thrive Vomiting Metabolic acidosis

Rare Symptoms - Less than 30% cases

Progressive cerebellar ataxia Feeding difficulties in infancy Coma Hearing impairment Microcephaly Nystagmus Thin upper lip vermilion Hepatomegaly Optic atrophy Leukoencephalopathy Myopathy Dystonia Visual impairment Hyporeflexia Gastroesophageal reflux Severe global developmental delay Cardiac arrest Abnormality of movement Respiratory insufficiency Scoliosis Small hand Muscular hypotonia Mental deterioration Lethargy Sensorineural hearing impairment Hyperammonemia Peripheral neuropathy Arrhythmia Ventricular hypertrophy Fatigue Ptosis Myalgia Clinodactyly Hepatic failure Brachydactyly Ragged-red muscle fibers Exercise intolerance Limb muscle weakness Cleft palate Abnormality of the liver Kyphoscoliosis Renal insufficiency Hernia Patent ductus arteriosus Proximal muscle weakness Developmental regression Retinopathy Areflexia Apnea Irritability Abnormality of the eye Babinski sign Muscular hypotonia of the trunk Pneumonia Agenesis of corpus callosum Myoclonus Respiratory failure Pallor Narrow forehead Skeletal muscle atrophy Cerebellar atrophy Hirsutism Proximal placement of thumb Widely spaced teeth Aortic regurgitation Holoprosencephaly Low anterior hairline Long eyelashes Decreased body weight Prominent metopic ridge Downturned corners of mouth Mitral regurgitation Highly arched eyebrow Short foot Full cheeks Esotropia Wide intermamillary distance Cutis marmorata Enlarged cisterna magna Blindness Mitral valve prolapse Atrial septal defect Edema Respiratory distress Talipes equinovarus Dysphagia Macrocephaly Anemia Hemihypertrophy Strabismus Skull asymmetry Curly eyelashes Semilobar holoprosencephaly Limited elbow movement Smooth philtrum Thick eyebrow Abnormal pyramidal sign Cardiomegaly Stroke Cerebral edema Infantile encephalopathy Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Severe lactic acidosis Cardiogenic shock Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Nemaline bodies Aspiration pneumonia Cardiorespiratory arrest Macrovesicular hepatic steatosis Progressive macrocephaly Progressive encephalopathy Acute hepatic failure Organic aciduria Abnormality of mitochondrial metabolism Respiratory insufficiency due to muscle weakness Inability to walk Hepatic encephalopathy Abnormality of the gastrointestinal tract Abnormality of the coagulation cascade Necrotizing encephalopathy Elevated hepatic transaminase Jaundice Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Mitochondrial myopathy Optic neuropathy Abnormality of eye movement Brain atrophy Congenital diaphragmatic hernia Optic disc pallor Pigmentary retinopathy Cyanosis Migraine Premature birth Gliosis Coarctation of aorta Generalized myoclonic seizures Abnormal cerebellum morphology Hepatic steatosis Dyskinesia Stage 5 chronic kidney disease Talipes Synophrys Left ventricular hypertrophy Renal tubular acidosis Adrenal insufficiency Basal ganglia calcification Weak cry Poor eye contact Progressive spasticity Pericardial effusion Global brain atrophy Oral-pharyngeal dysphagia Wide anterior fontanel Incoordination Shock Pancreatitis Horizontal nystagmus Aspiration Leukodystrophy Poor speech Periodic paralysis Prominent nasal bridge Spastic tetraplegia Hyperactivity Gait ataxia Spastic paraplegia Abnormality of the cerebral white matter Paraplegia Unsteady gait Confusion Neurodegeneration Neutropenia Tetraplegia Urinary incontinence Aciduria Memory impairment Progressive visual loss Choreoathetosis Visual loss 3-Methylglutaconic aciduria Low-set ears Hypertelorism Progressive forgetfulness Hyperchloremic acidosis Testicular dysgenesis Nonprogressive cerebellar ataxia Abnormality of the basal ganglia Limb ataxia Skeletal myopathy Short attention span Athetosis Spastic tetraparesis Spastic paraparesis Paraparesis Dementia Recurrent infections Syndactyly Abnormality of cardiovascular system morphology Pain Diarrhea Constipation Abdominal pain Pachygyria Heterotopia Recurrent urinary tract infections Poor appetite Ketosis Chronic constipation Episodic vomiting Hypertension Gait disturbance Intellectual disability, severe Dyspnea Cerebral atrophy Lower limb pain Dysarthria Motor delay Delayed speech and language development Cataract Increased adipose tissue Increased serum pyruvate Mild global developmental delay Chest pain Progressive external ophthalmoplegia Progressive sensorineural hearing impairment Multiple lipomas Ophthalmoparesis Slurred speech EMG abnormality Malar flattening Depressivity Coloboma Antegonial notching of mandible Ventricular extrasystoles Left bundle branch block T-wave inversion Torsade de pointes Abnormal atrioventricular conduction Abnormal T-wave Delayed eruption of permanent teeth First degree atrioventricular block Clinodactyly of the 5th toe Short digit Short mandibular rami Periodic hypokalemic paresis Effort-induced polymorphic ventricular tachycardias Muscle fiber tubular inclusions Bidirectional ventricular ectopy Prolonged QT interval Absent speech Sparse hair Respiratory tract infection Deeply set eye EEG abnormality Brachycephaly Recurrent respiratory infections Dilatation Prominent frontal sinuses Short neck Anteverted nares Ventriculomegaly Downslanted palpebral fissures High palate Aplasia/Hypoplasia of the maxilla Short finger Right bundle branch block Elevated serum creatine phosphokinase Sudden cardiac death Clinodactyly of the 5th finger Retrognathia Joint laxity Broad forehead Dolichocephaly Toe syndactyly Thin vermilion border Bulbous nose Short palm Wide nose High, narrow palate Hypoplasia of the maxilla Triangular face Broad nasal tip Syncope 2-3 toe syndactyly Abnormal palate morphology Myotonia Short metatarsal Growth abnormality Ventricular arrhythmia Oligodontia Reduced tendon reflexes Ventricular tachycardia Short metacarpal Scapular winging Bilateral single transverse palmar creases Short phalanx of finger Hypoplasia of dental enamel Palpitations Specific learning disability Cerebral white matter atrophy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and High forehead, related diseases and genetic alterations Congestive heart failure and Omphalocele, related diseases and genetic alterations Immunodeficiency and Aganglionic megacolon, related diseases and genetic alterations Nystagmus and Infertility, related diseases and genetic alterations Cataract and Lymphedema, related diseases and genetic alterations Seizures and Dandy-Walker malformation, related diseases and genetic alterations