Cardiomyopathy, and Hypogonadism

Diseases related with Cardiomyopathy and Hypogonadism

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Hypogonadism 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 BARDET-BIEDL SYNDROME 2; BBS2


BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cognitive impairment
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 2; BBS2

Low 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

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Other less relevant matches:

Low 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

Low match BETA-THALASSEMIA


Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-THALASSEMIA

Low 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

Low 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

Low match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME


Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency|peo-myopathy-emaciation syndrome|mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hypogonadism

Symptoms // Phenotype % cases
Congestive heart failure Common - Between 50% and 80% cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Elevated hepatic transaminase Cirrhosis Increased serum ferritin Hypogonadotrophic hypogonadism Abnormality of the liver Amenorrhea Hyperpigmentation of the skin Anemia Impotence Muscle weakness Osteoporosis Increased serum iron Pain Diabetes mellitus Arthritis Arthralgia Abdominal pain Arrhythmia Arthropathy Azoospermia Abnormality of iron homeostasis Hepatic steatosis Hepatitis

Rare Symptoms - Less than 30% cases


Osteopenia Exercise intolerance Elevated transferrin saturation Hepatocellular carcinoma Alopecia Growth delay Ptosis Respiratory insufficiency Fever Hypergonadotropic hypogonadism Dyspnea Diarrhea Elevated serum creatine phosphokinase Abnormal facial shape Short stature Osteomalacia Recurrent infections Ascites Delayed puberty Intellectual disability Global developmental delay Hypertension Facial palsy Abnormal left ventricle morphology Spinal rigidity Generalized amyotrophy Cerebral hemorrhage Premature graying of hair Nasal speech Stroke-like episode Broad finger Congenital ptosis Chronic kidney disease Short phalanx of finger Abnormality of the nares Dysphonia Abnormal hand morphology Moyamoya phenomenon Easy fatigability Progressive external ophthalmoplegia Small hand Decreased testicular size Cataract Joint dislocation Exocrine pancreatic insufficiency Chondrocalcinosis Abnormality of the hypothalamus-pituitary axis Seizures Hypertelorism Proximal amyotrophy Growth hormone deficiency Low-set ears Long philtrum Retrognathia Deeply set eye Stroke Wide nose Ragged-red muscle fibers Ataxia Respiratory insufficiency due to muscle weakness Neoplasm Dysphagia Constrictive pericarditis Aceruloplasminemia Generalized muscle weakness Gynecomastia Skeletal muscle atrophy Nausea Stage 5 chronic kidney disease Limb muscle weakness Microvesicular hepatic steatosis Cerebellar atrophy Kyphosis Renal insufficiency Ophthalmoplegia Hyporeflexia Cerebellar hypoplasia Respiratory failure Cholangiocarcinoma Abnormal glucose tolerance Proximal muscle weakness Abnormal joint morphology Carcinoma Hepatic failure Cardiomegaly Telangiectasia Hepatic fibrosis Insulin resistance Pleural effusion Pericarditis Alcoholism External ophthalmoplegia Increased reactive oxygen species production Acute hepatic failure Neoplasm of the liver Restrictive cardiomyopathy Testicular atrophy Primary amenorrhea Microcephaly Cardiac arrest Cholestasis Jaundice Abnormality of the anterior pituitary Abnormality of endocrine pancreas physiology Failure to thrive Feeding difficulties Abnormality of the skeletal system Thrombocytopenia Delayed skeletal maturation Hepatosplenomegaly Generalized hyperpigmentation Hypertrophic cardiomyopathy Irritability Pallor Postural instability Skin ulcer Venous thrombosis Reduced bone mineral density Cholelithiasis Congenital hepatic fibrosis Portal hypertension Abnormality of the skull Postaxial hand polydactyly Cognitive impairment Atrial septal defect Obesity Rod-cone dystrophy Polydactyly Retinal degeneration Postaxial polydactyly Renal hypoplasia Infertility Bicuspid aortic valve External genital hypoplasia Secundum atrial septal defect Unilateral renal hypoplasia Neutropenia Lymphopenia Purpura Lethargy Microcytic anemia Anisocytosis Limitation of joint mobility Reduced antithrombin III activity Malignant hyperthermia Pierre-Robin sequence Hyperinsulinemic hypoglycemia Small face Type I transferrin isoform profile Chronic hepatitis Decreased serum insulin-like growth factor 1 Increased intramyocellular lipid droplets Abnormality of the coagulation cascade Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Peripheral neuropathy Retinopathy Vertigo Rhabdomyolysis Chest pain Anemia of inadequate production Reduced beta/alpha synthesis ratio Poikilocytosis Hypochromic microcytic anemia Decreased mean corpuscular volume Portal fibrosis Abnormal hemoglobin Hypochromic anemia Abnormality of temperature regulation Micrognathia Bifid uvula Cleft palate Intellectual disability, mild Prominent forehead Hypothyroidism Hypoglycemia Cleft lip Tachycardia Muscle cramps Spinal deformities



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