Cardiomyopathy, and Cirrhosis

Diseases related with Cardiomyopathy and Cirrhosis

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


Top matches:

Medium match HEMOCHROMATOSIS, TYPE 2B; HFE2B


Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (OMIM ). HFE2 is genetically heterogeneous (see HFE2A, {602390}).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM MESH MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 2B; HFE2B

Medium match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Medium match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

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Other less relevant matches:

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Medium match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Medium match GLYCOGEN STORAGE DISEASE IV; GSD4


GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Medium match DORFMAN-CHANARIN DISEASE


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

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

Medium match MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2


Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).For a discussion of genetic heterogeneity of MLASA, see MLASA1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

Medium match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Cirrhosis

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Increased serum ferritin Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Impotence Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Myopathy Abnormality of the liver Anemia Elevated hepatic transaminase Splenomegaly Increased serum iron Exercise intolerance Fatigue Abdominal pain Arthralgia Hypertension Failure to thrive Amenorrhea Hyperpigmentation of the skin Pain Hypogonadism Generalized hypotonia Diabetes mellitus Hepatic steatosis

Rare Symptoms - Less than 30% cases


Dyspnea Increased serum lactate Lactic acidosis Acidosis Ragged-red muscle fibers Peripheral neuropathy Exertional dyspnea Osteoporosis Dilated cardiomyopathy Lethargy Infertility Portal hypertension Arthropathy Skeletal muscle atrophy Hepatosplenomegaly Hypertrophic cardiomyopathy Hyporeflexia Ascites Feeding difficulties Congenital hepatic fibrosis Arthritis Hypogonadotrophic hypogonadism Arrhythmia Limitation of joint mobility Hepatic fibrosis Joint dislocation Glucose intolerance Generalized hyperpigmentation Abnormality of iron homeostasis Growth delay Muscular hypotonia Loss of subcutaneous adipose tissue in limbs Cholestasis Primary amenorrhea Myocardial infarction Loss of gluteal subcutaneous adipose tissue Hypertriglyceridemia Epidermal acanthosis Hirsutism Myalgia Abnormality of the hypothalamus-pituitary axis Chondrocalcinosis Exocrine pancreatic insufficiency Hepatocellular carcinoma Gynecomastia Retinopathy Vertigo Abnormality of the face Alopecia Sideroblastic anemia Proximal tubulopathy Skeletal myopathy Ketosis Generalized amyotrophy Abnormality of the coagulation cascade Hyperammonemia Tachypnea Shock Respiratory insufficiency due to muscle weakness Progressive muscle weakness Left ventricular hypertrophy Thin skin Generalized hirsutism Insulin resistance Abnormality of skeletal muscle fiber size Hyperlipoproteinemia Decreased HDL cholesterol concentration Xanthomatosis Prominent superficial veins Dysmenorrhea Loss of facial adipose tissue Eclampsia Abnormality of the neck Preeclampsia Maternal diabetes Oligomenorrhea Prominent veins on trunk Insulin-resistant diabetes mellitus Hyperuricemia Calf muscle pseudohypertrophy Secondary amenorrhea Abnormality of the musculature Aplasia/Hypoplasia of the skin Lipoatrophy Reduced subcutaneous adipose tissue Coronary artery atherosclerosis Skeletal muscle hypertrophy Hyperglycemia Ventricular hypertrophy Lipodystrophy Polycystic ovaries Atherosclerosis Pancreatitis Acanthosis nigricans Hyperinsulinemia Respiratory insufficiency Metabolic acidosis Osteoarthritis Edema Talipes equinovarus Lymphopenia Flexion contracture Abnormality of endocrine pancreas physiology Elevated transferrin saturation Abnormality of the anterior pituitary Purpura Cataract Azoospermia Respiratory distress Delayed puberty Scarring Abnormal activity of mitochondrial respiratory chain Neutropenia Gastrointestinal dysmotility Mitochondrial myopathy Blue sclerae Joint swelling Delayed myelination Brain atrophy Triangular face Paresthesia Poor speech Malabsorption Global developmental delay Narrow mouth Babinski sign Spasticity Polyhydramnios Difficulty walking Muscular hypotonia of the trunk Fetal akinesia sequence Respiratory failure Areflexia Hypoplasia of the corpus callosum Hyperreflexia Dysphagia Motor delay Ptosis Strabismus Nystagmus Scoliosis Limb joint contracture Tubulointerstitial fibrosis Generalized edema Esophageal varix Difficulty climbing stairs Proximal muscle weakness Myopathic facies Akinesia Limb-girdle muscular dystrophy Reduced tendon reflexes Decreased liver function Hydrops fetalis Decreased fetal movement Waddling gait Sudden cardiac death Hepatic failure Limb muscle weakness Arthrogryposis multiplex congenita Muscular dystrophy Hyperlordosis Marked muscular hypertrophy



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