Cardiomyopathy, and Osteoporosis

Diseases related with Cardiomyopathy and Osteoporosis

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


Top 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 JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE


Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E


Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E Is also known as beta-sarcoglycanopathy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|lgmd2e|muscular dystrophy, limb-girdle, type 2e

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Gait disturbance
  • Dysphagia
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E

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Other less relevant matches:

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 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 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by Armanios et al., 2005).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

Low match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

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 CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Low match DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Osteoporosis

Symptoms // Phenotype % cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Diabetes mellitus Hypogonadism Arrhythmia Splenomegaly Congestive heart failure Hepatomegaly Hypogonadotrophic hypogonadism Increased serum ferritin Arthropathy Impotence Esophageal stricture Growth delay Cirrhosis Hyperpigmentation of the skin Amenorrhea Respiratory insufficiency Delayed puberty Nail dysplasia Abdominal pain Nail dystrophy

Rare Symptoms - Less than 30% cases


Thrombocytopenia Scoliosis Muscle weakness Mitten deformity Osteomalacia Squamous cell carcinoma of the skin Ankyloglossia Neoplasm Cataract Aseptic necrosis Hypertrophic cardiomyopathy Diarrhea Dysphagia Abnormality of the skeletal system Myopathy Cardiomegaly Hepatic fibrosis Milia Telangiectasia Arthralgia Short stature Hepatic steatosis Pain Ascites Hepatocellular carcinoma Atrophic scars Carious teeth Flexion contracture Feeding difficulties Hypertension Elevated hepatic transaminase Arthritis Abnormality of the liver Lethargy Infertility Azoospermia Generalized hyperpigmentation Increased serum iron Abnormality of iron homeostasis Recurrent skin infections Elevated transferrin saturation Lipodystrophy Venous thrombosis Syndactyly Narrow mouth Premature ovarian insufficiency Visual loss Hypoplasia of dental enamel Abnormal blistering of the skin Carcinoma Hepatitis Abnormal glucose tolerance Bruising susceptibility Cholangiocarcinoma Constrictive pericarditis Visual impairment Aceruloplasminemia Anxiety Round face Depressivity Recurrent fractures Sleep disturbance Immunodeficiency Headache Microvesicular hepatic steatosis Absent toenail Alcoholism Loss of eyelashes Malnutrition Skin vesicle Fragile skin Blepharitis Atypical scarring of skin Corneal erosion Corneal scarring Scarring alopecia of scalp Abnormality of the anus Absent fingernail Refractory anemia Esophageal stenosis Testicular atrophy Spontaneous esophageal perforation Ataxia Recurrent infections Hepatic failure Insulin resistance Pleural effusion Abnormal joint morphology Pericarditis Increased reactive oxygen species production Acute hepatic failure Neoplasm of the liver Restrictive cardiomyopathy Psychosis Arachnodactyly Thin skin Poikiloderma Short chin Ventricular tachycardia Polycystic ovaries Precocious puberty Bilateral ptosis Tricuspid regurgitation Bilateral cryptorchidism Scleroderma Secondary amenorrhea Thoracic scoliosis Short clavicles Down-sloping shoulders Abnormality of the testis Hypergonadotropic hypogonadism Sparse pubic hair Elevated circulating follicle stimulating hormone level Abnormality of the ovary Elevated circulating luteinizing hormone level Poor wound healing Wide nasal base Testicular dysgenesis Sclerodactyly Primary testicular failure Puberty and gonadal disorders Myofiber disarray Thyroid hemiagenesis Spontaneous abortion Increased bone mineral density Nephrolithiasis Cryptorchidism Generalized hirsutism Hypokalemia Acne Menorrhagia Truncal obesity Telangiectasia of the skin Bipolar affective disorder Adrenal hyperplasia Pituitary adenoma Onychomycosis Metrorrhagia Intellectual disability Ptosis Abnormality of the genital system Wide nasal bridge Intellectual disability, mild Micropenis Retrognathia Microtia Ectropion Tachycardia Wide nose Full cheeks Abnormality of the skin Convex nasal ridge Atrial fibrillation Mitral regurgitation Squamous cell carcinoma Chondrocalcinosis Hypoalbuminemia Myoglobinuria Macroglossia Waddling gait Palpitations Broad-based gait Scapular winging Limb-girdle muscular dystrophy Gowers sign Increased variability in muscle fiber diameter Calf muscle hypertrophy Myopathic facies Proximal amyotrophy Distal muscle weakness Limb-girdle muscle weakness Achilles tendon contracture Axial muscle weakness Pelvic girdle muscle weakness Shoulder girdle muscle atrophy Tip-toe gait Calf muscle pseudohypertrophy Pelvic girdle muscle atrophy Reduced muscle fiber beta sarcoglycan Fever Delayed skeletal maturation Muscular dystrophy Myalgia Hepatosplenomegaly Aplasia cutis congenita Portal hypertension Congenital hepatic fibrosis Abnormality of the anterior pituitary Abnormality of endocrine pancreas physiology Respiratory failure Dyspnea Hypotrichosis Sepsis Dehydration Hoarse voice Pyloric stenosis Onycholysis Proximal muscle weakness Skin erosion Laryngeal stenosis Paronychia Laryngeal stridor Congenital localized absence of skin Junctional split Delayed speech and language development Gait disturbance Edema Elevated serum creatine phosphokinase Difficulty walking Jaundice Irritability Dermal atrophy Aplastic anemia Cerebellar hypoplasia Hyperkeratosis Abnormality of skin pigmentation Chronic diarrhea Bone marrow hypocellularity Leukopenia Palmoplantar hyperkeratosis Pulmonary fibrosis Premature graying of hair Pulmonary infiltrates Toenail dysplasia Microcephaly Urethral stricture Ridged fingernail Reticulated skin pigmentation Constipation Scarring Pruritus Toe syndactyly Progressive visual loss Joint contracture of the hand Conjunctivitis Neoplasm of the skin Abnormality of the dentition Global developmental delay Pallor Portal fibrosis Postural instability Skin ulcer Reduced bone mineral density Cholelithiasis Microcytic anemia Abnormality of the skull Anisocytosis Anemia of inadequate production Poikilocytosis Hypochromic microcytic anemia Decreased mean corpuscular volume Abnormal hemoglobin Abnormality of the hypothalamus-pituitary axis Hypochromic anemia Abnormality of temperature regulation Reduced beta/alpha synthesis ratio Peripheral neuropathy Retinopathy Vertigo Limitation of joint mobility Cholestasis Gynecomastia Joint dislocation Exocrine pancreatic insufficiency Aplasia of the phalanges of the 3rd toe



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