Congestive heart failure, and Osteoporosis

Diseases related with Congestive heart failure and Osteoporosis

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


Top matches:

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 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 TSH-SECRETING PITUITARY ADENOMA


A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.

TSH-SECRETING PITUITARY ADENOMA Is also known as thyrotroph adenoma|pituitary thyrotrophic adenoma|thyroid stimulating hormone-secreting pituitary adenoma|tsh-oma

Related symptoms:

  • Seizures
  • Ptosis
  • Hypertension
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about TSH-SECRETING PITUITARY ADENOMA

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Other less relevant matches:

Medium 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

Medium match CARNEY COMPLEX, TYPE 1; CNC1


Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

Medium 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

Medium match PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Medium match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Medium match SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Top 5 symptoms//phenotypes associated to Congestive heart failure and Osteoporosis

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Osteopenia Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Osteoporosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Impotence Anemia Cirrhosis Delayed puberty Pain Splenomegaly Diabetes mellitus Cardiomyopathy Hepatomegaly Global developmental delay Cardiomegaly Weight loss Hepatocellular carcinoma Short stature Gynecomastia Ascites Recurrent infections Carcinoma Arthralgia Hepatitis Recurrent respiratory infections Muscle weakness Hyperpigmentation of the skin Abdominal pain Elevated hepatic transaminase Amenorrhea Increased serum ferritin Dilated cardiomyopathy Arthropathy Abnormality of the liver Hypogonadotrophic hypogonadism

Rare Symptoms - Less than 30% cases


Acute hepatic failure Hypothyroidism Full cheeks Dilatation Arachnodactyly Growth delay Abnormal facial shape Growth hormone excess Hemolytic anemia Joint laxity Cryptorchidism Abnormality of the skin Palpitations Intellectual disability Neoplasm Hip dislocation Respiratory distress Fever Cholangiocarcinoma Telangiectasia Hepatic fibrosis Pleural effusion Type I diabetes mellitus Precocious puberty Hepatic steatosis Infertility Thyroiditis Hepatosplenomegaly Inflammation of the large intestine Portal hypertension Elevated transferrin saturation Azoospermia Increased serum iron Cholestasis Alopecia Autoimmunity Arthritis Vertigo Celiac disease Generalized osteoporosis Hashimoto thyroiditis Dilatation of the cerebral artery Generalized amyotrophy Abnormality of the endocrine system Amyloidosis Chronic mucocutaneous candidiasis Villous atrophy Abnormality of the thyroid gland Abnormal biliary tract morphology Immune dysregulation Functional abnormality of the bladder Medial calcification of large arteries Esophageal carcinoma Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Recurrent Aspergillus infections Carotid artery dilatation Autoimmune neutropenia Enterocolitis Renal artery stenosis Cholelithiasis Renovascular hypertension Antiphospholipid antibody positivity B lymphocytopenia Decrease in T cell count Primary hypothyroidism Autoimmune thrombocytopenia Pulmonary embolism Abnormal serum interferon-gamma level Thrombocytopenia Abnormal eosinophil morphology Immunodeficiency Diarrhea Sclerosing cholangitis Vitamin E deficiency Adenocarcinoma of the large intestine Vitamin A deficiency Pneumonia Vitamin K deficiency Recurrent systemic pyogenic infections Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Elevated alkaline phosphatase of hepatic origin Palmar telangiectasia Delayed skeletal maturation Vitamin D deficiency Chronic hepatic failure Purpura Autoimmune hemolytic anemia Patent foramen ovale Encephalitis Recurrent upper respiratory tract infections Leukoencephalopathy Uveitis Abnormal intestine morphology Ulcerative colitis Lymphopenia Histiocytosis Bronchiectasis Inflammatory abnormality of the skin Pulmonary arterial hypertension Eczema Sepsis Cholestatic liver disease Cholangitis Prolonged prothrombin time Dilated superficial abdominal veins Redundant skin Hearing impairment Smooth philtrum Osteolysis Coxa valga Aortic valve stenosis Decreased body weight Cutaneous photosensitivity Waddling gait Generalized muscle weakness Hypoplasia of the maxilla Genu valgum Psoriasiform dermatitis Carious teeth Broad forehead Thin upper lip vermilion Glaucoma Pes cavus Visual loss Abnormality of the dentition Talipes equinovarus Scaling skin Epiphora Myopia Premature loss of permanent teeth Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Aortic arch calcification Hypoplasia of the tooth germ Tendon rupture Dentinogenesis imperfecta limited to primary teeth Unerupted tooth Mitral valve calcification Heart block Hip subluxation Aortic valve calcification Shallow acetabular fossae Muscle fiber atrophy Subvalvular aortic stenosis Onycholysis Osteolytic defects of the phalanges of the hand High anterior hairline Periodontitis Skeletal muscle atrophy Muscular hypotonia Microcephaly Vesicoureteral reflux Cutis laxa Wormian bones Abnormality of the face Recurrent urinary tract infections Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Oligohydramnios Overgrowth Recurrent fractures Aortic aneurysm Joint hyperflexibility Pulmonic stenosis Umbilical hernia Inguinal hernia Pectus excavatum Hypospadias Hernia Sensorineural hearing impairment Shock Epiphyseal dysplasia Generalized hypotonia Arterial stenosis Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Supravalvular aortic stenosis Congenital hemolytic anemia Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Ileus Emphysema Bladder diverticulum Cor pulmonale Atelectasis Premature skin wrinkling Pulmonary artery stenosis Shawl scrotum Prematurely aged appearance Progressive sensorineural hearing impairment Delayed cranial suture closure Hypoalbuminemia Bilateral ptosis Pancreatitis Abnormality of the pituitary gland Abnormality of hair density Abnormal visual field test Internal ophthalmoplegia Fourth cranial nerve palsy Enlarged pituitary gland Cranial nerve VI palsy Euthyroid hyperthyroxinemia Periodic hypokalemic paresis Thyroid crisis Erectile abnormalities Bitemporal hemianopia Decreased fertility in males Adrenocorticotropin deficient adrenal insufficiency Female hypogonadism Central adrenal insufficiency Increased thyroid-stimulating hormone level Decreased circulating ACTH level Heteronymous hemianopia Ataxia Decreased female libido Abnormal glucose tolerance Stroke Abnormality of the eye Myalgia Proximal muscle weakness Dyspnea Aceruloplasminemia Constrictive pericarditis Microvesicular hepatic steatosis Alcoholism Hepatic failure Testicular atrophy Restrictive cardiomyopathy Neoplasm of the liver Increased reactive oxygen species production Pericarditis Osteomalacia Abnormal joint morphology Insulin resistance Sudden loss of visual acuity Decreased fertility in females Confusion Joint dislocation Headache Vomiting Blindness Tremor Seizures Abnormality of the hypothalamus-pituitary axis Chondrocalcinosis Exocrine pancreatic insufficiency Limitation of joint mobility Pallor Retinopathy Peripheral neuropathy Abnormality of endocrine pancreas physiology Abnormality of the anterior pituitary Abnormality of iron homeostasis Congenital hepatic fibrosis Generalized hyperpigmentation Lethargy Hyperhidrosis Nausea and vomiting Secondary growth hormone deficiency Increased circulating gonadotropin level Oculomotor nerve palsy Abnormality of the menstrual cycle Supraventricular arrhythmia Hemianopia Menstrual irregularities Adrenocorticotropic hormone deficiency Male hypogonadism Prolactin excess Hyperthyroidism Hypotension Pericardial effusion Hypokalemia Easy fatigability Goiter Ventricular arrhythmia Cranial nerve paralysis Diplopia Progressive visual loss Papule Hirsutism Pruritus Ventricular tachycardia Thoracic scoliosis Secondary amenorrhea Scleroderma Bilateral cryptorchidism Tricuspid regurgitation Premature ovarian insufficiency Lipodystrophy Polycystic ovaries Short chin Down-sloping shoulders Spontaneous abortion Hypergonadotropic hypogonadism Increased bone mineral density Abnormality of the genital system Mitral regurgitation Atrial fibrillation Convex nasal ridge Wide nose Short clavicles Poikiloderma Microtia Puberty and gonadal disorders Scarring Jaundice Encephalopathy Depressivity Renal insufficiency Aplasia of the phalanges of the 3rd toe Thyroid hemiagenesis Myofiber disarray Primary testicular failure Abnormality of the testis Sclerodactyly Testicular dysgenesis Wide nasal base Poor wound healing Elevated circulating luteinizing hormone level Abnormality of the ovary Elevated circulating follicle stimulating hormone level Sparse pubic hair Tachycardia Retrognathia Nevus Macule Generalized hypopigmentation Pituitary adenoma Macroorchidism Blue irides Increased circulating cortisol level Bipolar affective disorder Striae distensae Freckling Neurofibromas Pheochromocytoma Hypermelanotic macule Heart murmur Sarcoma Ischemic stroke Hemangioma Increased body weight Cafe-au-lait spot Tall stature Thyroid carcinoma Paraganglioma Micropenis Profuse pigmented skin lesions Intellectual disability, mild Abnormality of the skeletal system Wide nasal bridge Flexion contracture Scoliosis Cutaneous myxoma Myxoid subcutaneous tumors Thyroid follicular hyperplasia Cardiac myxoma Schwannoma Uterine leiomyoma Follicular thyroid carcinoma Follicular hyperplasia Testicular neoplasm Pituitary prolactin cell adenoma Fibroma Multiple lentigines Red hair Expanded phalanges with widened medullary cavities



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