Congestive heart failure, and Hypertriglyceridemia

Diseases related with Congestive heart failure and Hypertriglyceridemia

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Hypertriglyceridemia that can help you solving undiagnosed cases.


Top matches:

Medium match OBESITY DUE TO CEP19 DEFICIENCY


Related symptoms:

  • Intellectual disability
  • Hypertension
  • Congestive heart failure
  • Obesity
  • Diabetes mellitus


SOURCES: OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO CEP19 DEFICIENCY

Medium match SECKEL SYNDROME 10; SCKL10


Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

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

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Other less relevant matches:

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 PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Medium match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Medium match AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY


Related symptoms:

  • Micrognathia
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Top 5 symptoms//phenotypes associated to Congestive heart failure and Hypertriglyceridemia

Symptoms // Phenotype % cases
Diabetes mellitus Common - Between 50% and 80% cases
Hepatic steatosis Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Hypertriglyceridemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Lipodystrophy Hypertrophic cardiomyopathy Insulin resistance Cardiomyopathy Intellectual disability Skeletal muscle atrophy Myalgia Elevated hepatic transaminase Acanthosis nigricans Lipoatrophy Muscle weakness Splenomegaly Short stature Obesity Atherosclerosis Decreased HDL cholesterol concentration Pain Hepatosplenomegaly Generalized hypotonia Elevated serum creatine phosphokinase Polycystic ovaries Abnormality of the liver Skeletal muscle hypertrophy Insulin-resistant diabetes mellitus Reduced subcutaneous adipose tissue Intellectual disability, mild Proximal muscle weakness Myocardial infarction Coronary artery atherosclerosis Ventricular hypertrophy Progressive muscle weakness Hyperlipidemia Cirrhosis

Rare Symptoms - Less than 30% cases


Premature graying of hair Generalized lipodystrophy Cardiomegaly Scarring Flexion contracture Decreased serum leptin Progressive proximal muscle weakness Infertility Midface retrusion Hirsutism Failure to thrive Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Hyperhidrosis Seizures Xanthomatosis Macrotia Oligomenorrhea Epidermal acanthosis Secondary amenorrhea Aplasia/Hypoplasia of the skin Hyperinsulinemia Pancreatitis Micrognathia Thin skin Supraventricular arrhythmia Abnormal atrioventricular conduction Generalized hirsutism Hypercholesterolemia Hearing impairment Acute pancreatitis Increased LDL cholesterol concentration Glucose intolerance Rimmed vacuoles Arrhythmia Ichthyosis Waddling gait Elbow flexion contracture Recurrent infections Dilatation Ventricular arrhythmia Difficulty walking Sprengel anomaly Difficulty climbing stairs Ankle contracture Increased adipose tissue around the neck Accelerated atherosclerosis Spinal rigidity Heart block Proximal muscle weakness in lower limbs Mildly elevated creatine phosphokinase Minimal subcutaneous fat Calf muscle hypertrophy Toe walking Acroosteolysis of distal phalanges (feet) Congenital muscular dystrophy Increased intraabdominal fat Spinal muscular atrophy Decreased adiponectin level Limb-girdle muscular dystrophy Back pain Atrioventricular block Increased facial adipose tissue Myotonia Narrow nasal ridge Vocal cord paralysis Scapuloperoneal amyotrophy Atrial arrhythmia Achilles tendon contracture Shoulder girdle muscle weakness Shoulder girdle muscle atrophy Peroneal muscle atrophy Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Proximal upper limb muscle hypertrophy Limb-girdle muscle atrophy Left anterior fascicular block Peroneal muscle weakness Ventricular escape rhythm Distal lower limb amyotrophy Proximal upper limb amyotrophy Proximal amyotrophy Type 1 muscle fiber atrophy Proximal spinal muscular atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Restricted neck movement due to contractures Limb-girdle muscle weakness Absent muscle fiber emerin Round face Abnormality of the nail Progeroid facial appearance Osteolytic defects of the phalanges of the hand Precocious atherosclerosis Advanced eruption of teeth Distal lower limb muscle weakness Muscle hypertrophy of the lower extremities Erythema nodosum Cognitive impairment Panniculitis Osteopenia Arthralgia Arthritis Erythema Camptodactyly of finger Skin rash Lymphadenopathy Inability to walk Macroglossia Prominent nose Stiff skin Thick lower lip vermilion Episcleritis Hyperpigmentation of the skin Bone pain Thrombocytopenia Basal ganglia calcification Hypochromic anemia Flexion contracture of toe Immune dysregulation Clubbing of fingers Abnormally large globe Myositis Microcytic anemia Lymphopenia Elevated erythrocyte sedimentation rate Hypermelanotic macule Long fingers Increased antibody level in blood Growth abnormality Conjunctivitis Babinski sign Edema Peripheral neuropathy Abnormality of the genital system Large hands Clitoral hypertrophy Reduced tendon reflexes Accelerated skeletal maturation Nephrolithiasis Tall stature Hypertrichosis Polyphagia Triangular face Nephropathy Autoimmunity Umbilical hernia Mandibular prognathia Hernia High pitched voice Abnormality of lipid metabolism Fever Insulin-resistant diabetes mellitus at puberty Anemia Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Finger swelling Prominent umbilicus Long foot Congenital generalized lipodystrophy Decreased fertility in females Glioma Bone cyst Abnormality of the ovary Angina pectoris EMG: myopathic abnormalities Periportal fibrosis Respiratory insufficiency due to muscle weakness Alopecia universalis Mitral regurgitation Aortic valve stenosis Intracranial hemorrhage Absent eyebrow Emphysema Aplasia/Hypoplasia of the eyebrow Basal cell carcinoma Exertional dyspnea Scleroderma Prematurely aged appearance Aortic root aneurysm Absent eyelashes Premature skin wrinkling Squamous cell carcinoma of the skin Sparse hair Abnormality of the pulmonary artery Mitral valve calcification Papillary renal cell carcinoma Coronary artery stenosis Loss of eyelashes Pulmonary carcinoid tumor Aortic atherosclerosis Abnormality of the intrahepatic bile duct Amenorrhea Primary amenorrhea Abnormality of the face Hyperglycemia Abnormality of the musculature Hyperuricemia Sparse scalp hair Increased muscle lipid content Preeclampsia Skin tags Type II diabetes mellitus Azoospermia Oligospermia Premature coronary artery atherosclerosis Microcephaly Abnormal facial shape Severe short stature Retinal detachment Microretrognathia Metaphyseal widening Aortic aneurysm Cone-shaped epiphysis Glycosuria Slender long bone Elevated circulating follicle stimulating hormone level Neck muscle weakness Elevated circulating luteinizing hormone level Abdominal aortic aneurysm Elevated serum aspartate aminotransferase Elevated serum alanine aminotransferase Sensorineural hearing impairment Fatigue Areflexia Distal muscle weakness Fasciculations Exercise intolerance Easy fatigability Psoriasiform dermatitis Gowers sign Difficulty running Maternal diabetes Abnormality of the neck Scapular winging Facial palsy Scoliosis Muscular hypotonia Ptosis High palate Feeding difficulties Wide nasal bridge Gait disturbance Respiratory insufficiency Kyphosis Pectus excavatum Pes cavus Dyspnea Rigidity Neonatal hypotonia Hyperlordosis Micronodular cirrhosis Joint stiffness Muscular dystrophy Dilated cardiomyopathy Limb muscle weakness Lower limb muscle weakness Vertigo Falls Sudden cardiac death Syncope Atrial fibrillation Palpitations Frequent falls Bradycardia Knee flexion contracture Ketotic hypoglycemia Skeletal myopathy Prominent superficial veins Hypoglycemia Hyperlipoproteinemia Calf muscle pseudohypertrophy Loss of facial adipose tissue Eclampsia Prominent veins on trunk Abnormality of skeletal muscle fiber size Loss of gluteal subcutaneous adipose tissue Marked muscular hypertrophy Growth delay Depressed nasal bridge Anteverted nares Malar flattening Immunodeficiency Thin upper lip vermilion Deeply set eye Recurrent corneal erosions Carcinoma Thin vermilion border Hepatic failure Distal amyotrophy Broad nasal tip Full cheeks Otitis media Epistaxis Hepatic fibrosis Decreased liver function Sinusitis Progressive hearing impairment Recurrent sinusitis Ketosis Adipose tissue loss



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