Cardiomyopathy, and Hyperinsulinemia

Diseases related with Cardiomyopathy and Hyperinsulinemia

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


Top matches:

Medium match HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY


Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.

HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hyperinsulinism due to glutamodehydrogenase deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency|schad deficiency|hyperinsulinism due to schad deficiency

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Peripheral neuropathy
  • Intrauterine growth retardation
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY

Medium 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

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

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Other less relevant matches:

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Medium match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

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 FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Medium match BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY


Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hyperinsulinemia

Symptoms // Phenotype % cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Insulin resistance Common - Between 50% and 80% cases
Hepatic steatosis Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Hirsutism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Congestive heart failure

Uncommon Symptoms - Between 30% and 50% cases


Lipodystrophy

Common Symptoms - More than 50% cases


Lipoatrophy

Uncommon Symptoms - Between 30% and 50% cases


Hypertriglyceridemia

Common Symptoms - More than 50% cases


Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Acanthosis nigricans

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Growth delay Epidermal acanthosis Hypertension Failure to thrive Short stature Polycystic ovaries Elevated hepatic transaminase Skeletal muscle hypertrophy Myocardial infarction Atherosclerosis Prominent superficial veins Congenital generalized lipodystrophy Micrognathia Dilated cardiomyopathy Insulin-resistant diabetes mellitus Generalized lipodystrophy Cirrhosis Scoliosis Myopathy Pancreatitis Bone cyst Oligomenorrhea High pitched voice Large hands Peripheral neuropathy Accelerated skeletal maturation Mandibular prognathia Insulin-resistant diabetes mellitus at puberty Macrotia Myalgia Infertility Global developmental delay Acute pancreatitis Flexion contracture Hypogonadism Secondary amenorrhea Hyperglycemia Generalized hirsutism Abnormality of the skeletal system Cataract Angina pectoris Hyperlipidemia Abnormality of skeletal muscle fiber size Thin skin Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Umbilical hernia Muscle weakness Abnormal facial shape Osteopenia Skeletal muscle atrophy Intellectual disability, mild Abnormality of the genital system

Rare Symptoms - Less than 30% cases


Eclampsia Decreased HDL cholesterol concentration Hernia Cognitive impairment Hyperlipoproteinemia Decreased serum leptin Triangular face Renal insufficiency Thin vermilion border Cranial nerve paralysis Glomerulopathy Short clavicles Osteolytic defects of the phalanges of the hand Absence of subcutaneous fat Ventriculomegaly Osteoporosis Abnormality of lipid metabolism Abnormality of the foot Growth hormone deficiency Hearing impairment Neoplasm Proptosis Carcinoma Hip dislocation Hypergonadotropic hypogonadism Narrow chest Nephropathy Hypertrichosis Reduced intrathoracic adipose tissue Nephrolithiasis Tall stature Clitoral hypertrophy Polyphagia Long foot Decreased fertility in females Prominent umbilicus Labial hypertrophy Cystic angiomatosis of bone Hyperhidrosis Generalized muscular appearance from birth Cryptorchidism Ptosis High palate Atrial fibrillation Glucose intolerance Multiple joint contractures Dilatation Xanthomatosis Abnormality of skin pigmentation Chest pain Hyperinsulinemic hypoglycemia Prominent forehead Fever Hypothyroidism Dyspnea Prolonged prothrombin time Neonatal hypotonia Cleft palate Hepatosplenomegaly Small face Abnormality of the liver Hypogonadotrophic hypogonadism Prolonged QT interval Coronary artery atherosclerosis Delayed puberty Reduced subcutaneous adipose tissue Aplasia/Hypoplasia of the skin Intrauterine growth retardation Hyperuricemia Maternal diabetes Fatigue Strabismus Nystagmus Hypertelorism Anemia Abnormality of the neck Ataxia Microcephaly Tapering pointed ends of distal finger phalanges Arteriosclerosis of small cerebral arteries Abnormal trabecular bone morphology Absence of pubertal development Carotid artery stenosis Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Regional abnormality of skin Respiratory distress Visual impairment Clinodactyly of the 5th finger Leukemia Abnormal cardiac septum morphology Postnatal growth retardation Irritability Abnormality of the kidney Abnormality of the eye Pes planus Weight loss Upslanted palpebral fissure Severe short stature Abnormal heart morphology Epicanthus Patent ductus arteriosus Hypospadias Thrombocytopenia Abnormality of cardiovascular system morphology Headache Microphthalmia Atrial septal defect Hydrocephalus Hypoplastic facial bones Frontal bossing Hyperreflexia Reticulated skin pigmentation Decreased testosterone in males Prominent scalp veins Thin ribs Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Thrombocytosis Alopecia of scalp Renal cell carcinoma Hypoplastic nipples Keratoconjunctivitis sicca Scleroderma Hyperphosphatemia Exertional dyspnea Premature graying of hair Heart murmur Abnormality of the thorax Metaphyseal widening Premature ovarian insufficiency Intracranial hemorrhage Nasal speech Dermal atrophy Down-sloping shoulders Ovoid vertebral bodies Bird-like facies Hip pain Mitral valve calcification Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Sinus tachycardia Finger syndactyly Premature coronary artery atherosclerosis Thin nail Aplastic clavicle Lack of skin elasticity Narrow nasal ridge Arteriosclerosis Carcinoid tumor Decreased serum estradiol Thin bony cortex Enlarged joints Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Generalized osteoporosis Small for gestational age Lymphoma Dolichocephaly Bicornuate uterus Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Abnormality of the thumb Primary hypothyroidism Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Abnormality of nervous system morphology Duodenal stenosis External ear malformation Compensated hypothyroidism Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Absent testis Duplicated collecting system Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Hearing abnormality Irregular hyperpigmentation Toe syndactyly Sloping forehead Short thumb Cafe-au-lait spot Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Choanal atresia Short palpebral fissure Pancytopenia Oligohydramnios Tetralogy of Fallot Spina bifida Renal agenesis Hypercholesterolemia Hypopigmentation of the skin Neutropenia Bruising susceptibility Vertigo Astigmatism Anal atresia Facial asymmetry Abnormal vertebral morphology Bone marrow hypocellularity Aplasia/Hypoplasia of the radius Hypoplasia of the ulna Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Tracheoesophageal fistula Horseshoe kidney Triphalangeal thumb Myelodysplasia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Azoospermia Leukopenia Type I diabetes mellitus Relative macrocephaly Decreased body weight Osteolysis Respiratory insufficiency due to muscle weakness Difficulty running Centrally nucleated skeletal muscle fibers Weak cry Glycosuria Bulbar palsy Increased circulating free fatty acid level Abnormality of acetylcarnitine metabolism Infantile muscular hypotonia Congenital hip dislocation Limb joint contracture Narrow face Progressive muscle weakness Clumsiness Increased C-peptide level Lumbar hyperlordosis Decreased fetal movement Waddling gait Generalized muscle weakness Long face Nemaline bodies Abnormal glucose tolerance Limb muscle weakness Glioma Spontaneous abortion Abnormality of the nail Round face Hypoketotic hypoglycemia Papule High forehead Pectus excavatum Obesity Decreased plasma carnitine Abnormality of the ovary Spinal deformities Hypoglycemic seizures Dicarboxylic aciduria Fasting hyperinsulinemia Hepatic necrosis Autoimmunity Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Hypoglycemic encephalopathy Type 1 fibers relatively smaller than type 2 fibers Postprandial hyperglycemia Lower limb muscle weakness Ophthalmoplegia Cellulitis Type II transferrin isoform profile Pierre-Robin sequence Type I transferrin isoform profile Chronic hepatitis 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 Abnormal protein glycosylation Decreased fertility Amenorrhea Primary amenorrhea Marked muscular hypertrophy Loss of gluteal subcutaneous adipose tissue Abnormality of the face Prominent veins on trunk Loss of facial adipose tissue Calf muscle pseudohypertrophy Abnormality of the musculature Malignant hyperthermia Rhabdomyolysis Muscular dystrophy Elevated serum creatine phosphokinase Facial palsy Muscular hypotonia of the trunk Joint laxity Proximal muscle weakness Respiratory failure Areflexia Respiratory insufficiency Dysphagia Feeding difficulties Generalized hypotonia Abnormality of the coagulation cascade Hypoglycemia Cleft lip Tachycardia Muscle cramps Bifid uvula Hepatitis Cardiac arrest Exercise intolerance Thick hair Acute hepatic failure Neonatal hypoglycemia Aminoaciduria Malar flattening Stroke Sparse hair Joint stiffness Diarrhea Conductive hearing impairment Narrow mouth Dementia Alopecia Midface retrusion Short nose Vomiting Kyphosis Abnormality of the dentition Macrocephaly Pain Sensorineural hearing impairment Feeding difficulties in infancy Lethargy Abnormal levels of creatine kinase in blood Abnormal oral cavity morphology Microtia Hypermetropia Prolonged QTc interval Broad-based gait Coxa valga Increased bone mineral density Aspiration Aortic valve stenosis Sparse and thin eyebrow Hypohidrosis Dental crowding Left ventricular hypertrophy Preeclampsia Osteoarthritis Hypotrichosis Cardiomegaly Abnormality of the cardiovascular system Cyanosis Convex nasal ridge Nail dysplasia Limitation of joint mobility Hypodontia Delayed eruption of teeth Carious teeth Atlantoaxial dislocation Arterial stenosis Myoglobinuria Sunken cheeks Recurrent infections Immunodeficiency Hyperammonemia Mildly elevated creatine phosphokinase Increased intramuscular fat Labial pseudohypertrophy Myelin tomacula Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Increased facial adipose tissue Delayed skeletal maturation Abnormality of complement system Adipose tissue loss Osteopoikilosis Increased intraabdominal fat Increased adipose tissue around the neck Abnormality of the menstrual cycle Advanced eruption of teeth Peripheral arterial stenosis Proportionate short stature Arrhythmia Pigmentary retinopathy Exercise-induced myalgia Abnormality of the hair Broad foot Progressive proximal muscle weakness Growth hormone excess IgA deficiency Spinal rigidity Precocious puberty Prominent supraorbital ridges Pyloric stenosis Muscle stiffness Bradycardia Hyperlordosis Thickened skin Palpitations Ventricular hypertrophy Pulmonary arterial hypertension Confusion Recurrent fractures Hepatic failure Motor delay Lactic acidosis Abnormality of the preputium



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