Cardiomyopathy, and Fatigue

Diseases related with Cardiomyopathy and Fatigue

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


Top matches:

Medium match CARDIOMYOPATHY, DILATED, 1I; CMD1I


Related symptoms:

  • Muscle weakness
  • Fatigue
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1I; CMD1I

Medium match RIPPLING MUSCLE DISEASE


Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.

RIPPLING MUSCLE DISEASE Is also known as muscular dystrophy, limb-girdle, type 1c, formerly|rippling muscle disease|rmd|lgmd1c, formerly

Related symptoms:

  • Muscle weakness
  • Pain
  • Fatigue
  • Talipes equinovarus
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about RIPPLING MUSCLE DISEASE

Medium match HEREDITARY SPHEROCYTOSIS


Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

HEREDITARY SPHEROCYTOSIS Is also known as sph|hs|minkowski-chauffard disease|hs1|spherocytosis, hereditary, 1

Related symptoms:

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SPHEROCYTOSIS

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Other less relevant matches:

Medium match FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION Is also known as cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, with conduction defect 1|cdcd1|cardiomyopathy, congestive

Related symptoms:

  • Ataxia
  • Pain
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION

Medium match BECKER MUSCULAR DYSTROPHY


Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.

BECKER MUSCULAR DYSTROPHY Is also known as bmd|becker dystrophinopathy

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Arrhythmia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about BECKER MUSCULAR DYSTROPHY

Medium match FAMILIAL ISOLATED PITUITARY ADENOMA


Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. Genetic Heterogeneity of Pituitary AdenomasAlso see pituitary adenoma-2 (PITA2 ), caused by mutation in the GPR101 gene (OMIM ); pituitary adenoma-3 (PITA3 ), caused by somatic activating mutations in the GNAS1 gene (OMIM ); pituitary adenoma-4 (PITA4 ), caused by somatic mutation in the USP8 gene (OMIM ); and pituitary adenoma-5 (PITA5 ), caused by mutation in the CDH23 gene (OMIM ).Patients with the chromosome Xq26.3 microduplication syndrome (OMIM ) have growth hormone-secreting adenomas.Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1 ), Carney complex (CNC1 ), and the McCune-Albright syndrome (OMIM ).Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG ) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.

FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated|pagh1|somatotrophinoma, familial|ifs|isolated familial somatotropinoma|fipa|acromegaly due to pituitary adenoma 1|fis

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Cardiomyopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED PITUITARY ADENOMA

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B


Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Medium match HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY


Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.

HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY Is also known as aconitase deficiency|iscu myopathy|iron-sulfur cluster deficiency myopathy|myopathy with deficiency of succinate dehydrogenase and aconitase|myopathy with exercise intolerance, swedish type|myoglobinuria due to abnormal glycolysis

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Respiratory distress
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY

Medium match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Medium match CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY


Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.

CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY Is also known as l-cpti deficiency|hepatic carnitine palmitoyl transferase i deficiency|carnitine palmitoyl transferase ia deficiency|hepatic carnitine palmitoyl transferase 1 deficiency|l-cpt1 deficiency|cpt1a deficiency

Related symptoms:

  • Seizures
  • Muscular hypotonia
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Fatigue

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Sudden cardiac death Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pain Elevated hepatic transaminase Arrhythmia Muscle cramps Myalgia Elevated serum creatine phosphokinase Exercise intolerance Dilated cardiomyopathy

Rare Symptoms - Less than 30% cases


Reduced systolic function Acidosis Headache Palpitations Dilatation Ventricular arrhythmia Mitochondrial myopathy Lactic acidosis Respiratory distress Calf muscle hypertrophy Skeletal myopathy Dyspnea Congestive heart failure Reduced tendon reflexes Rhabdomyolysis Myoglobinuria Anemia Obesity Toe walking Left ventricular hypertrophy Proximal muscle weakness Atrial flutter Atrial fibrillation Gowers sign Ventricular hypertrophy Muscular dystrophy Cardiomegaly Myotonia Hemiplegia/hemiparesis Dysphagia Ophthalmoplegia Congenital cataract Cognitive impairment Ptosis Cataract Increased serum insulin-like growth factor 1 Generalized muscle weakness Prolactinoma Dorsocervical fat pad Loss of consciousness Ragged-red muscle fibers Renal tubular acidosis Moon facies Pituitary growth hormone cell adenoma Pituitary prolactin cell adenoma Galactorrhea Abdominal obesity Menstrual irregularities Neoplasm of the endocrine system Pituitary adenoma Prolactin excess Growth hormone excess Acanthosis nigricans Epidermal acanthosis External ophthalmoplegia Coma Dysphonia Purpura Neutropenia Amenorrhea Hyperpigmentation of the skin Hypoglycemia Lymphopenia Hypogonadotrophic hypogonadism Impotence Neurological speech impairment Increased serum ferritin Increased serum iron Seizures Muscular hypotonia Hepatomegaly Behavioral abnormality Cirrhosis Abnormality of the liver Abnormality of metabolism/homeostasis Lethargy Tachycardia Increased serum lactate Hepatic failure Sideroblastic anemia Increased muscle fatiguability Decreased activity of mitochondrial complex I Increased intramyocellular lipid droplets Arthritis Bruising susceptibility Decreased activity of mitochondrial complex II Decreased activity of mitochondrial complex III Abnormal iron deposition in mitochondria Abdominal pain Arthralgia Subsarcolemmal accumulations of abnormally shaped mitochondria Proximal muscle weakness in lower limbs Coarse facial features Short stature Ataxia Erythroid hypoplasia Elliptocytosis Spherocytosis Reticulocytosis Autoimmune hemolytic anemia Cholelithiasis Hyperbilirubinemia Hemolytic anemia Delayed puberty Erythema Jaundice Splenomegaly Abnormality of the skeletal system Percussion-induced rapid rolling muscle contractions Hypotension Scapular winging Mildly reduced ejection fraction Talipes equinovarus Irritability Overgrowth Muscle stiffness EMG abnormality Limb-girdle muscular dystrophy Muscle hyperirritability Skeletal muscle hypertrophy Fatigable weakness Exercise-induced myalgia Exercise-induced muscle cramps Exercise-induced muscle stiffness Muscle mounding Ventriculomegaly Chest pain Depressivity Difficulty walking Hypertension Neoplasm Reduced muscle dystrophin expression Distal upper limb muscle weakness Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Calf muscle pseudohypertrophy Abnormal urinary color Hand muscle weakness Ventricular escape rhythm Abnormality of the lower limb Limb-girdle muscle weakness Difficulty climbing stairs Falls Pes planus Bradycardia Amyloidosis Atrioventricular block Ventricular fibrillation Increased variability in muscle fiber diameter Bundle branch block Pericardial effusion Abnormality of the thyroid gland Thromboembolism Paroxysmal ventricular tachycardia Abnormal EKG Myocarditis Sinus bradycardia Left ventricular noncompaction Left ventricular failure Premature atrial contractions Transient hyperlipidemia



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