Cardiomyopathy, and Cyanosis

Diseases related with Cardiomyopathy and Cyanosis

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


Top matches:

Medium match CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME


Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.

CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME Is also known as mpcd

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME

Medium match CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3


Related symptoms:

  • Cardiomyopathy
  • Hypertrophic cardiomyopathy
  • Tachycardia
  • Hypotension
  • Atrial fibrillation


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3

Medium match NAXOS DISEASE


Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

NAXOS DISEASE Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|kwwh type i|keratoderma with woolly hair type i|mal de naxos|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo

Related symptoms:

  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Arrhythmia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NAXOS DISEASE

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Other less relevant matches:

Medium match SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS 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

Medium match FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE


FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

Medium match CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY


Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY Is also known as cact deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY

Medium match PYRUVATE DEHYDROGENASE E3 DEFICIENCY


Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.

PYRUVATE DEHYDROGENASE E3 DEFICIENCY Is also known as e3-deficient maple syrup urine disease|nadh-cytochrome b5 reductase deficiency|dihydrolipoamide dehydrogenase deficiency|nadh-dependent methemoglobin reductase deficiency|methemoglobinemia, congenital, autosomal recessive|dld deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3 DEFICIENCY

Medium match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Medium match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Cyanosis

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypoglycemia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Bradycardia Congestive heart failure Elevated hepatic transaminase Muscular hypotonia Respiratory distress Vomiting Cardiomegaly Lethargy Hepatic failure Hyperammonemia Ventricular tachycardia Microcephaly Arrhythmia Apnea Abnormality of the nervous system Global developmental delay Strabismus Hypertrophic cardiomyopathy Growth delay Tachycardia Hypotension Myopathy Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Exertional dyspnea Ventricular extrasystoles Reduced ejection fraction Short stature Hepatic encephalopathy Encephalopathy Neurodevelopmental delay Tetraplegia Acanthosis nigricans Small for gestational age Cerebral cortical atrophy Feeding difficulties Hypoketotic hypoglycemia Abnormal facial shape Coma Myalgia Ascites Ataxia Spasticity Wide nasal bridge Cerebellar atrophy Nevus Postnatal microcephaly Sparse and thin eyebrow Intellectual disability Muscle weakness Elevated serum creatine phosphokinase Decreased plasma carnitine Cardiac arrest Nystagmus Severe muscular hypotonia Dilatation Right bundle branch block Sinus bradycardia Atrioventricular block Hyperkeratosis Respiratory failure Acidosis Alopecia Exercise intolerance Lactic acidosis Dilated cardiomyopathy Abnormal mitochondrial shape Epidermal acanthosis Increased serum lactate Congenital hepatic fibrosis Reduced antithrombin III activity Inflammatory abnormality of the skin Thin skin Aspiration Type I transferrin isoform profile Aplasia/Hypoplasia of the nipples Recurrent pneumonia Microcytic anemia Lipoatrophy Sparse eyelashes Leukopenia Myocarditis Sacral dimple Erythroderma Hypsarrhythmia Hyperglycemia Bilateral talipes equinovarus Abnormality of coagulation Epileptic spasms Ventricular fibrillation Ichthyosis Abnormal bleeding Hypercoagulability Severe global developmental delay Muscle cramps Metabolic acidosis Spastic tetraplegia Intellectual disability, profound Tetraparesis Involuntary movements Cerebral palsy Athetosis Opisthotonus Polycythemia Generalized tonic seizures Neutropenia Methemoglobinemia Abnormal cardiac ventricular function Elevated plasma branched chain amino acids Athetoid cerebral palsy Hyperisoleucinemia Increased urine alpha-ketoglutarate concentration Cognitive impairment Splenomegaly Renal insufficiency Absent speech Dry skin Adactyly Abnormal isoelectric focusing of serum transferrin Long eyelashes Aplasia of the fingers Slender long bone Type II diabetes mellitus Dental crowding Insulin resistance Increased body weight Pointed chin Reduced tendon reflexes Cachexia Premature ovarian insufficiency Nephroblastoma High pitched voice Pulmonary fibrosis Pericarditis Overgrowth Insulin-resistant diabetes mellitus Scaphocephaly Microglossia Myocardial fibrosis Prominent superficial veins Weak voice Fibroma Peripheral edema Absent frontal sinuses J-shaped sella turcica Hypoplastic frontal sinuses Constrictive pericarditis Pigmentary retinopathy Growth hormone deficiency Hypertelorism Hypogonadism Neoplasm Depressed nasal bridge Motor delay Dysarthria Intrauterine growth retardation Macrocephaly Frontal bossing Ventriculomegaly Hypoplasia of the corpus callosum Edema Depressivity Severe short stature Diabetes mellitus Decreased antibody level in blood Hepatosplenomegaly Intellectual disability, moderate Retinopathy Broad forehead Dolichocephaly Delayed puberty Infertility Astigmatism Cirrhosis Hypodontia Triangular face Abdominal distention High palate Abnormality of the mitochondrion Reduced visual acuity Macroglossia Jaundice Vertigo Cleft upper lip Nail dystrophy Erythema Abnormality of the coagulation cascade Acute hepatic failure Abnormality of the gastrointestinal tract Dyspnea Micrognathia Hyperhidrosis Heart murmur Sepsis Neonatal hypoglycemia Enlarged kidney Myoglobinuria Pulmonary edema Biventricular hypertrophy Shortened PR interval Abnormal heart morphology Fatigue Low-set ears Peripheral neuropathy Cyanotic episode Palmoplantar keratoderma Sudden cardiac death Intellectual disability, severe Syncope Palpitations Ventricular arrhythmia Brittle hair Akinesia Abnormal blistering of the skin Fragile skin Curly hair Alopecia of scalp Ectodermal dysplasia Woolly hair Clubbing of fingers Onycholysis Abnormal morphology of right ventricular trabeculae Hypergranulosis T-wave inversion Right ventricular cardiomyopathy Abnormality of hair texture Acantholysis Abnormal T-wave Prolonged QRS complex Right ventricular dilatation Paroxysmal ventricular tachycardia Abnormal right ventricle morphology Ventricular flutter Tremor Elevated right atrial pressure Myoclonus Oliguria Aciduria Ventricular hypertrophy Progressive neurologic deterioration Decreased liver function Rhabdomyolysis Cardiorespiratory arrest Hypothermia Preeclampsia Left ventricular hypertrophy Fasting hypoglycemia Dicarboxylic aciduria Decreased urine output Hepatic steatosis Elevated plasma acylcarnitine levels Elevated creatine kinase after exercise Sudden episodic apnea Abnormality of skeletal muscles Atrial fibrillation Scoliosis Low-output congestive heart failure Sparse scalp hair Hypertonia Behavioral abnormality Headache Generalized muscle weakness Irritability Cerebral atrophy Generalized-onset seizure Abnormality of metabolism/homeostasis Visual loss Rod-cone dystrophy Dementia Rigidity Mental deterioration Right atrial enlargement Peripheral axonal neuropathy Gliosis Left ventricular systolic dysfunction Neuronal loss in central nervous system Sloping forehead Hypokinesia Status epilepticus Left ventricular failure Intellectual disability, progressive Sensory axonal neuropathy Retinal atrophy Loss of speech Central apnea Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Premature closure of fontanelles Restrictive cardiomyopathy Supraventricular tachycardia Pericardial constriction



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