Cardiomyopathy, and Pancreatitis

Diseases related with Cardiomyopathy and Pancreatitis

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


Top matches:

Low match NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1


Nephronophthisis is an autosomal recessive cystic kidney disease characterized by onset of end-stage renal failure in the first 3 decades of life. The disorder is often associated with extrarenal manifestations, including liver fibrosis, retinal degeneration, and central nervous system abnormalities (summary by O'Toole et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-


Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Low 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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Low 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

Low 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

Low match METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Low 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

Low match PROPIONIC ACIDEMIA


Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Pancreatitis

Symptoms // Phenotype % cases
Hepatomegaly Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Insulin resistance Common - Between 50% and 80% cases
Hypertriglyceridemia Common - Between 50% and 80% cases
Hepatic steatosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Diabetes mellitus

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Lipoatrophy Skeletal muscle hypertrophy Lipodystrophy Polycystic ovaries Acanthosis nigricans Hypertrophic cardiomyopathy Congestive heart failure Hypertension Seizures Hirsutism Hyperinsulinemia Myopathy Epidermal acanthosis Myalgia Generalized lipodystrophy Acute pancreatitis Cirrhosis Congenital generalized lipodystrophy Decreased serum leptin Generalized hirsutism Generalized hypotonia Short stature Elevated hepatic transaminase Hyperammonemia Dysmenorrhea Thin skin Hyperlipidemia Coma Loss of subcutaneous adipose tissue in limbs Insulin-resistant diabetes mellitus Renal insufficiency Coronary artery atherosclerosis Xanthomatosis Secondary amenorrhea Decreased HDL cholesterol concentration Aplasia/Hypoplasia of the skin Lethargy Failure to thrive Reduced subcutaneous adipose tissue Anemia Global developmental delay Dehydration Stroke Dystonia Immunodeficiency Thrombocytopenia Atherosclerosis

Rare Symptoms - Less than 30% cases


Hypertrichosis Triangular face Umbilical hernia Macrotia Mandibular prognathia Hernia Eclampsia Intellectual disability, mild Abnormality of lipid metabolism Cognitive impairment Angina pectoris Dilatation Abnormality of skeletal muscle fiber size Hyperlipoproteinemia Increased facial adipose tissue Micrognathia Nephrolithiasis Round face Fever Vomiting Abnormality of the nail Acidosis Nephropathy Metabolic acidosis Aciduria Cystic angiomatosis of bone Pancytopenia Ischemic stroke Ketonuria Organic aciduria Methylmalonic aciduria Hyperglycinemia Generalized muscular appearance from birth Reduced intrathoracic adipose tissue Tall stature High pitched voice Increased intraabdominal fat Accelerated skeletal maturation Increased adipose tissue around the neck Clitoral hypertrophy Advanced eruption of teeth Large hands Cerebellar hemorrhage Labial hypertrophy Long foot Osteolytic defects of the phalanges of the hand Bone cyst Decreased fertility in females Prominent superficial veins Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Polyphagia Abnormality of the genital system Maternal diabetes Muscular hypotonia Hearing impairment Respiratory distress Sensorineural hearing impairment Obesity Recurrent infections Fatigue Skeletal muscle atrophy Hepatosplenomegaly Infertility Feeding difficulties Choreoathetosis Optic atrophy Stage 5 chronic kidney disease Oligomenorrhea Hyperuricemia Nausea and vomiting Hyperglycemia Neutropenia Abnormality of the kidney Myocardial infarction Episodic vomiting Ketoacidosis Ketosis Limb hypertonia Tachypnea Poor appetite Abnormality of immune system physiology Developmental regression Eczema Encephalopathy Minimal subcutaneous fat Acroosteolysis of distal phalanges (feet) Dilated cardiomyopathy Decreased adiponectin level Muscle hypertrophy of the lower extremities Proximal upper limb muscle hypertrophy Cerebral atrophy Arrhythmia Overgrowth Constipation Osteoporosis Hypoglycemia Muscular hypotonia of the trunk Apnea Feeding difficulties in infancy Lactic acidosis Decreased antibody level in blood Acute encephalopathy Propionicacidemia Hyperglycinuria Osteopoikilosis Cellulitis Glomerulopathy Short clavicles Peripheral arterial stenosis Abnormality of the menstrual cycle Absence of subcutaneous fat Adipose tissue loss Spontaneous abortion Abnormality of complement system Sunken cheeks Loss of truncal subcutaneous adipose tissue Enlarged peripheral nerve Myelin tomacula Labial pseudohypertrophy Cranial nerve paralysis Thin vermilion border Increased level of hippuric acid in urine Autoimmunity Propionyl-CoA carboxylase deficiency Intolerance to protein Narrow nasal ridge Peripheral neuropathy Tremor Hyperhidrosis Abnormality of the ovary Narrow chest Glioma Cataract Abnormality of the skeletal system Pectus excavatum High forehead Papule Accelerated atherosclerosis Arachnoid cyst Abnormal atrioventricular conduction Easy fatigability Muscle weakness Pain Areflexia Thick hair Elevated serum creatine phosphokinase Difficulty walking Decreased fertility Proximal muscle weakness Distal muscle weakness Ichthyosis Waddling gait Progressive muscle weakness Fasciculations Exercise intolerance Psoriasiform dermatitis Abnormality of movement Prominent veins on trunk Abnormality of the neck Abnormality of the musculature Calf muscle pseudohypertrophy Abnormality of the face Primary amenorrhea Loss of facial adipose tissue Amenorrhea Gowers sign Loss of gluteal subcutaneous adipose tissue Marked muscular hypertrophy Increased muscle lipid content Progressive proximal muscle weakness Neck muscle weakness Difficulty running Anorexia Ataxia Supraventricular arrhythmia Preeclampsia Tubulointerstitial abnormality Abnormal globus pallidus morphology Tubular atrophy Chronic metabolic acidosis Metabolic ketoacidosis Gout Nephronophthisis Kinetic tremor Ventricular arrhythmia Premature graying of hair Progeroid facial appearance Renal cyst Precocious atherosclerosis Retinal degeneration Methylmalonic acidemia Homocystinuria Respiratory insufficiency Spastic tetraparesis Abdominal pain Neurological speech impairment Dysarthria Postural instability Tetraparesis Paraparesis Leukopenia Pancreatic cysts Tubular basement membrane disintegration Macrocytic anemia Tubulointerstitial nephritis Renal corticomedullary cysts Delayed CNS myelination Chronic pancreatitis Increased intramuscular fat



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