Cardiomyopathy, and Hyperlipidemia

Diseases related with Cardiomyopathy and Hyperlipidemia

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


Top matches:

Medium match PLATELET GLYCOPROTEIN IV DEFICIENCY


PLATELET GLYCOPROTEIN IV DEFICIENCY Is also known as cd36 deficiency|bdplt10|bleeding disorder, platelet-type, 10

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Thrombocytopenia
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy


SOURCES: OMIM MESH MENDELIAN

More info about PLATELET GLYCOPROTEIN IV DEFICIENCY

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

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

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Other less relevant matches:

Medium match HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Medium match CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY


CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981)

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Is also known as cpt deficiency, hepatic, type i|cpt i deficiency|carnitine palmitoyltransferase ia deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

Medium match NEUTRAL LIPID STORAGE MYOPATHY


Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Medium match EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1


Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (OMIM ). Genetic Heterogeneity of Emery-Dreifuss Muscular DystrophyAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2 ), is caused by mutation in the lamin A/C gene (LMNA ); autosomal recessive EDMD3 (OMIM ) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (OMIM ), caused by mutation in the SYNE1 gene (OMIM ), EDMD5 (OMIM ), caused by mutation in the SYNE2 gene (OMIM ), and EDMD7 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene (OMIM ).

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 Is also known as emd1|scapuloperoneal syndrome, x-linked, formerly|humeroperoneal neuromuscular disease, formerly|muscular dystrophy, tardive, dreifuss-emery type, with contractures

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

Medium match DORFMAN-CHANARIN DISEASE


DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

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Medium match LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME


LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.

LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME Is also known as lcps

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Congestive heart failure
  • Sparse hair
  • Ventricular hypertrophy


SOURCES: ORPHANET MENDELIAN

More info about LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME

Medium match ATAXIA WITH VITAMIN E DEFICIENCY


Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hyperlipidemia

Symptoms // Phenotype % cases
Hypertriglyceridemia Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Elevated hepatic transaminase Arrhythmia Elevated serum creatine phosphokinase Hepatomegaly Myopathy Hypertension Sudden cardiac death Reduced tendon reflexes Hemiplegia/hemiparesis Neurological speech impairment Hypoglycemia Coma Fatigue Seizures

Rare Symptoms - Less than 30% cases


Exercise intolerance Diarrhea Elevated serum creatinine Hypercholesterolemia Generalized hypotonia Ventricular hypertrophy Cardiomegaly Increased LDL cholesterol concentration Ichthyosis Hepatic steatosis Proximal muscle weakness Pes cavus Gait disturbance Obesity Scoliosis Progressive proximal muscle weakness Gowers sign Waddling gait Diabetes mellitus Congestive heart failure Areflexia Insulin resistance Short stature Hepatic failure Thrombocytopenia Renal tubular acidosis Dilated cardiomyopathy Lethargy Abnormality of metabolism/homeostasis Transient hyperlipidemia Behavioral abnormality Purpura Loss of consciousness Lipodystrophy Mitral regurgitation Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Absent muscle fiber emerin Lumbar hyperlordosis Sparse hair Sparse scalp hair Aortic valve stenosis Proximal muscle weakness in upper limbs Atherosclerosis Unsteady gait Intracranial hemorrhage Muscular dystrophy Absent eyebrow Emphysema Coronary artery atherosclerosis Premature graying of hair Ventricular escape rhythm Proximal lower limb amyotrophy Limb-girdle muscular dystrophy Vocal cord paralysis Myotonia Toe walking Spinal rigidity Atrioventricular block Rimmed vacuoles Sprengel anomaly Heart block Abnormality of the neck Back pain Achilles tendon contracture Proximal muscle weakness in lower limbs Supraventricular arrhythmia Aplasia/Hypoplasia of the eyebrow EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Atrial arrhythmia Scapular winging Elbow flexion contracture Reduced subcutaneous adipose tissue Basal cell carcinoma Dysmetria Visual loss Rod-cone dystrophy Abnormality of the nervous system Mental deterioration Developmental regression Abnormal pyramidal sign Nyctalopia Malabsorption Lower limb muscle weakness Sensory neuropathy Hypertonia Abnormality of retinal pigmentation Slurred speech Dysdiadochokinesis Steatorrhea Abnormality of visual evoked potentials Spinocerebellar tract degeneration Fat malabsorption Xanthelasma Abetalipoproteinemia Vitamin E deficiency Dystonia Tremor Paralysis Mitral valve calcification Exertional dyspnea Lipoatrophy Scleroderma Prematurely aged appearance Aortic root aneurysm Absent eyelashes Premature skin wrinkling Alopecia universalis Squamous cell carcinoma of the skin Abnormality of the pulmonary artery Papillary renal cell carcinoma Dysarthria Coronary artery stenosis Loss of eyelashes Pulmonary carcinoid tumor Aortic atherosclerosis Abnormality of the intrahepatic bile duct Ataxia Nystagmus Spasticity Visual impairment Peripheral neuropathy Joint stiffness Immunodeficiency Hyperlordosis Acute kidney injury Renal insufficiency Proteinuria Stage 5 chronic kidney disease Hemolytic anemia Nephropathy Hematuria Hemiparesis Dysphasia Abnormality of blood and blood-forming tissues Reticulocytosis Fever Enterocolitis Hemolytic-uremic syndrome Complement deficiency Increased blood urea nitrogen Anuria Microangiopathic hemolytic anemia Azotemia Abnormal lactate dehydrogenase activity Schistocytosis Edema Anemia Decreased serum complement factor B Full cheeks Intellectual disability, mild Hepatosplenomegaly Thin upper lip vermilion Deeply set eye Peripheral axonal neuropathy Lactic acidosis Thin vermilion border Distal amyotrophy Broad nasal tip Motor delay Cognitive impairment Depressed nasal bridge Left ventricular hypertrophy Hepatic fibrosis Growth delay Neurodevelopmental delay Abnormality of lipid metabolism Increased muscle fatiguability Sinus tachycardia Increased hepatic glycogen content Decreased serum complement C3 Abnormality of complement system Abnormal bleeding Prolonged bleeding time Macrothrombocytopenia Myalgia Distal muscle weakness Asymmetric septal hypertrophy Abnormality of the endocrine system Progressive muscle weakness Fasciculations Easy fatigability Psoriasiform dermatitis Difficulty running Giant platelets Neck muscle weakness Increased muscle lipid content Intellectual disability Spontaneous abortion Ptosis Flexion contracture Midface retrusion Kyphosis Pectus excavatum Difficulty walking Recurrent infections Decreased serum complement factor I Conjugated hyperbilirubinemia Decreased serum complement factor H Decreased level of thrombomodulin Feeding difficulties Acidosis Feeding difficulties in infancy Abnormality of the liver Sepsis Hyperbilirubinemia Hyperammonemia Hypoketotic hypoglycemia Pain Nonketotic hypoglycemia Prenatal maternal abnormality Hepatocellular necrosis Acute hepatic steatosis Reye syndrome-like episodes Recurrent encephalopathy Hyperemesis gravidarum Hearing impairment Sensorineural hearing impairment Tendon xanthomatosis



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