Cardiomyopathy, and Hypothyroidism

Diseases related with Cardiomyopathy and Hypothyroidism

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


Top matches:

Low match GNE MYOPATHY


GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.

GNE MYOPATHY Is also known as nonaka myopathy|ibm2|distal myopathy, nonaka type|hibm2|dmrv|distal myopathy with rimmed vacuoles|hereditary inclusion body myopathy type 2|quadriceps-sparing myopathy|inclusion body myopathy type 2

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about GNE MYOPATHY

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 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33


COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

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Other less relevant matches:

Low match GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY


Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.

GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY Is also known as gyg1 deficiency|glycogen storage disease type xv|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|glycogenin deficiency|gsd type 15|glycogen storage disease type 15|glycogenosis type 15|glycogenosis type xv|gsd xv|gsd type xv|gsd with

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Respiratory distress
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY

Low match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Low 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

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 7


3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Low match RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME


Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hypothyroidism

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Global developmental delay Exercise intolerance Increased serum lactate Hypoglycemia Fatigue Myopathy Tachycardia Elevated hepatic transaminase Cognitive impairment EMG: myopathic abnormalities Encephalopathy Ventricular fibrillation Ventricular hypertrophy Abnormal facial shape Cerebral atrophy Peripheral neuropathy Ataxia Arrhythmia Lower limb muscle weakness

Rare Symptoms - Less than 30% cases


Ptosis Muscle cramps Dystonia Dysphagia Severe global developmental delay Constipation Acidosis Metabolic acidosis Abnormality of the liver Ophthalmoplegia Ventricular tachycardia Scapular winging Left ventricular hypertrophy Talipes equinovarus Foot dorsiflexor weakness External ophthalmoplegia Progressive external ophthalmoplegia Visual impairment Rigidity Diabetes mellitus Congenital hypothyroidism Limb muscle weakness Gliosis Apathy Shoulder girdle muscle weakness Cardiac arrest Hypogonadism Hearing impairment Sensorineural hearing impairment Fever Dysarthria Dementia Gait disturbance Rhabdomyolysis Myoglobinuria Cryptorchidism Skeletal muscle atrophy Cataract Hypertrophic cardiomyopathy Precocious puberty Brain atrophy Generalized hypotonia Microcephaly Dehydration Developmental regression Acute myeloid leukemia Myeloid leukemia Neutropenia Abnormality of movement Opisthotonus Neuronal loss in central nervous system Abnormal pyramidal sign Attention deficit hyperactivity disorder Myelodysplasia Aciduria Choreoathetosis Progressive neurologic deterioration Abnormality of extrapyramidal motor function Leukemia Hip dislocation Neonatal hypotonia Hypercholesterolemia Dry skin Flat face Delayed eruption of teeth Macroglossia Limb undergrowth Broad-based gait Omphalocele Clumsiness Hoarse voice Increased body weight Congenital hip dislocation Wormian bones Coxa vara Relative macrocephaly Joint laxity Drowsiness Intellectual disability, moderate Long thorax Thyroid hormone receptor defect No permanent dentition Increased T3/T4 ratio Spasticity Flexion contracture Feeding difficulties Cerebellar atrophy Recurrent infections Myoclonus Hyperactivity Respiratory failure Progressive encephalopathy Drooling Dyslexia Ragged-red muscle fibers Myalgia Paresthesia Sensory neuropathy Generalized muscle weakness Parkinsonism Migraine Memory impairment Amenorrhea Bradykinesia Status epilepticus Progressive muscle weakness Diplopia Bradycardia Progressive hearing impairment Mutism Cerebral cortical atrophy Insomnia Multiple mitochondrial DNA deletions Cytochrome C oxidase-negative muscle fibers Sensory ataxia Limb-girdle muscle weakness Mitochondrial myopathy Bipolar affective disorder Resting tremor Dysphonia Abnormality of the thyroid gland Coronary artery atherosclerosis Sensory axonal neuropathy Ophthalmoparesis Premature ovarian insufficiency Bilateral ptosis Proximal muscle weakness Hyporeflexia Upper motor neuron dysfunction Hyperammonemia Dysgraphia 3-Methylglutaconic aciduria Congenital neutropenia Optic atrophy Absent speech Gait ataxia Confusion Lactic acidosis Nephropathy Neurodegeneration Abnormal cerebellum morphology Spastic tetraplegia Clonus Delayed skeletal maturation Oral-pharyngeal dysphagia Areflexia Premature pubarche Depressivity Respiratory insufficiency Tremor Pain Premature thelarche Elevated plasma acylcarnitine levels Acute rhabdomyolysis Myopathic facies Prolonged QTc interval Torsade de pointes Ketonuria Poor coordination Hyperactive deep tendon reflexes Spastic diplegia Skeletal dysplasia Cerebral palsy Dilatation Ventricular arrhythmia Hypoglycemic coma Hypernatriuria Hepatomegaly Astigmatism Oligohydramnios Cardiomegaly Nephrotic syndrome Amblyopia Congenital nephrotic syndrome Respiratory distress Vertigo Peripheral axonal neuropathy Palpitations Right bundle branch block Renal salt wasting Bundle branch block Decreased muscle mass Exertional dyspnea Abnormal EKG Upper limb muscle weakness T-wave inversion Neck flexor weakness ST segment elevation Abdominal wall muscle weakness Abnormal levels of creatine kinase in blood Cardiomyocyte hypertrophy Left ventricular septal hypertrophy Increased mitochondrial number Decreased muscle glycogen content Increased circulating renin level Primary adrenal insufficiency Cleft palate Hip flexor weakness Facial palsy Steppage gait Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Rimmed vacuoles Absent Achilles reflex Lower limb amyotrophy Shoulder girdle muscle atrophy Fatty replacement of skeletal muscle Weakness of long finger extensor muscles Limited shoulder movement Quadriceps muscle weakness Tibialis muscle weakness Limited wrist extension Muscle fiber inclusion bodies Hyperkalemia Abnormality of the foot musculature EMG: positive sharp waves EMG: myotonic discharges Abnormality of the right hemidiaphragm Neoplasm Failure to thrive Vomiting Coma Hypotension Hyperpigmentation of the skin Azoospermia Shock Hyponatremia Adrenal insufficiency Micrognathia Intellectual disability, mild Anteverted nares Colpocephaly Abnormality of eye movement Talipes Growth hormone deficiency Heterotopia Hypocalcemia Optic nerve hypoplasia Diabetes insipidus Short finger Absent septum pellucidum Hypopituitarism Severe vision loss Amniotic constriction ring Panhypopituitarism Adrenocorticotropic hormone deficiency Cavum septum pellucidum Autism Hemianopia Anterior pituitary hypoplasia Optic disc hypoplasia Ectopic posterior pituitary Septo-optic dysplasia Pituitary dwarfism Bitemporal hemianopia Decreased circulating luteinizing hormone level Decreased circulating follicle stimulating hormone level Hypertelorism Anemia Motor delay Depressed nasal bridge Macrocephaly Abnormality of the eye Micropenis Prominent forehead Type I transferrin isoform profile Dyspnea Cleft lip Dilated cardiomyopathy Delayed puberty Hepatic steatosis Bifid uvula Chest pain Hepatitis Hypogonadotrophic hypogonadism Abnormality of the coagulation cascade Malignant hyperthermia Pierre-Robin sequence Hyperinsulinemic hypoglycemia Small face Chronic hepatitis Polydactyly Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Nystagmus Hypoplasia of the corpus callosum Syndactyly Obesity Agenesis of corpus callosum Severe short stature Subsarcolemmal accumulations of abnormally shaped mitochondria



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