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.
PLATELET GLYCOPROTEIN IV DEFICIENCY Is also known as cd36 deficiency|bdplt10|bleeding disorder, platelet-type, 10
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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
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SOURCES: OMIM ORPHANET MENDELIAN
More info about CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCYGlycogen 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
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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.
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1
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SOURCES: OMIM ORPHANET MENDELIAN
More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1CPT 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
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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
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SOURCES: ORPHANET OMIM MENDELIAN
More info about NEUTRAL LIPID STORAGE MYOPATHYEmery-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 ).
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
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SOURCES: OMIM ORPHANET MENDELIAN
More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi
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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
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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
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SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about ATAXIA WITH VITAMIN E DEFICIENCYSymptoms // Phenotype | % cases |
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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 |
Patients with Cardiomyopathy and Hyperlipidemia. may also develop some of the following symptoms:
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