Congestive heart failure, and Diarrhea

Diseases related with Congestive heart failure and Diarrhea

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


Top matches:

Medium match DESMINOPATHY


Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

DESMINOPATHY Is also known as desmin-related myofibrillar myopathy

Related symptoms:

  • Cardiomyopathy
  • Diarrhea
  • Arrhythmia
  • Constipation
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about DESMINOPATHY

Medium match ATTRV122I AMYLOIDOSIS


Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

Low match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

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Low match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

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

Low match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Low match TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1


Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic TelangiectasiaSee also HHT2 (OMIM ), caused by mutation in the ALK1 gene (ACVRL1 ) on chromosome 12q13; HHT3 (OMIM ), mapped to chromosome 5q31; HHT4 (OMIM ), mapped to chromosome 7p14; and HHT5 (OMIM ), caused by mutation in the GDF2 gene (OMIM ) on chromosome 10q11.See also juvenile polyposis/HHT syndrome (OMIM ), caused by mutation in the SMAD4 gene (OMIM ).

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 Is also known as telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber|orw disease|hht|osler-rendu-weber disease

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Low match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Low match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Low match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

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

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Constipation Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Facial palsy Headache Seizures Pain Paresthesia Anemia Clubbing Stroke Respiratory failure Telangiectasia Renal insufficiency Hypertension Arthritis Respiratory insufficiency due to muscle weakness Proximal muscle weakness Dilated cardiomyopathy Atrial fibrillation EMG: myopathic abnormalities Atrioventricular block

Rare Symptoms - Less than 30% cases


Cerebral hemorrhage Scleroderma Hyporeflexia of lower limbs Ventricular tachycardia Sudden cardiac death Migraine Polyneuropathy Thrombocytopenia Elevated serum creatine phosphokinase Visual loss Pancytopenia Neoplasm Failure to thrive Nausea Cryptorchidism Right ventricular cardiomyopathy Hyporeflexia Epistaxis Clubbing of fingers Hematochezia Hemoptysis Polycythemia Portal hypertension Hypertrophic cardiomyopathy Microcephaly Cyanosis Generalized muscle weakness Gastrointestinal hemorrhage Chest pain Vertigo Distal muscle weakness Restrictive cardiomyopathy Respiratory insufficiency Bilateral sensorineural hearing impairment Respiratory distress Recurrent infections Limb muscle weakness Abnormality of the skin Peripheral axonal neuropathy Dilatation Amenorrhea Heart block Orthostatic hypotension Pericardial effusion Impotence Exercise intolerance Neck muscle weakness Pneumonia Abnormal cardiac septum morphology Diabetes mellitus Skeletal myopathy Peripheral neuropathy Restrictive heart failure Late-onset proximal muscle weakness Spinal rigidity Neutropenia Hematemesis Hearing impairment Right bundle branch block Malabsorption Autoimmunity Melena Sensorineural hearing impairment Gastroesophageal reflux Vomiting Dysphagia Weight loss Ataxia Bulbar palsy Cardiac amyloidosis Nystagmus Flexion contracture Syringomyelia Aphasia Axonal degeneration Decreased number of peripheral myelinated nerve fibers Amyloidosis Splenomegaly Vitreous floaters Psychomotor deterioration Growth delay Increased CSF protein Myelopathy Urinary retention Multiple myeloma Orthostatic hypotension due to autonomic dysfunction Sensory ataxia Abnormal renal physiology Amyloid deposition in the vitreous humor Stroke-like episode Constrictive median neuropathy Coma Malnutrition Gastrointestinal telangiectasia Fever Dysarthria Visual impairment Spasticity Gastrointestinal arteriovenous malformation Dilatation of celiac artery Dilatation of mesenteric artery Hydrocephalus Venous varicosities of celiac and mesenteric vessels Nail bed telangiectasia Fingerpad telangiectases Visual auras Nasal mucosa telangiectasia High-output congestive heart failure Tongue telangiectasia Tremor Areflexia Rheumatoid arthritis Hemiparesis Cachexia Spastic paraparesis Paraparesis Abnormal autonomic nervous system physiology Vasculitis Hallucinations Cardiomegaly Dementia Peripheral demyelination Neuronal loss in central nervous system Hypotension Urinary incontinence Gliosis Nephropathy Paraplegia Immunodeficiency Autoimmune hemolytic anemia Recurrent respiratory infections Atrial septal defect Retinal dystrophy Retinal degeneration Lethargy Pallor Hypoglycemia Abnormal heart morphology Ventricular septal defect Anorexia Optic atrophy Short stature Global developmental delay Burkitt lymphoma Follicular hyperplasia Generalized lymphadenopathy Aciduria Situs inversus totalis Gastritis Macrocytic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Sideroblastic anemia Abnormality of the basal ganglia Abdominal situs inversus Megaloblastic anemia Secondary amenorrhea Cardiac arrest Hyperglycemia Myelodysplasia Polycystic ovaries Cone/cone-rod dystrophy Aminoaciduria Hoarse voice Interstitial pneumonitis IgM deficiency Hypothyroidism Otitis media Type I diabetes mellitus Chronic diarrhea Bronchiectasis Abnormal lung morphology Recurrent otitis media Inflammatory abnormality of the skin Decreased antibody level in blood Purpura Lymphoma Asthma Hemolytic anemia Lymphadenopathy Respiratory tract infection Hepatosplenomegaly Conjunctivitis Abnormal intestine morphology Immune dysregulation Autoimmune thrombocytopenia Cor pulmonale Verrucae Brain neoplasm Villous atrophy Chronic lung disease Exocrine pancreatic insufficiency Fatigable weakness Recurrent upper respiratory tract infections IgA deficiency Recurrent sinusitis Arteriovenous fistulas of celiac and mesenteric vessels Colitis Interstitial pulmonary abnormality Combined immunodeficiency Inflammation of the large intestine Palate telangiectasia Centrally nucleated skeletal muscle fibers Hepatic arteriovenous malformation Duodenal adenocarcinoma Jaundice Carcinoma Cough Diplopia Hypokalemia Hypoalbuminemia Colon cancer Hamartoma Intestinal polyposis Rectal prolapse Stomach cancer Hamartomatous polyposis Intussusception Multiple gastric polyps Adenocarcinoma of the colon Abdominal pain Ophthalmoplegia Easy fatigability Ragged-red muscle fibers External ophthalmoplegia Hypergonadotropic hypogonadism Primary amenorrhea Stage 5 chronic kidney disease Hypogonadism Hepatic vascular malformations Cerebellar hypoplasia Kyphosis Cerebellar atrophy Skeletal muscle atrophy Ptosis Intellectual disability Umbilical hernia Hernia Chronic kidney disease Reduced ejection fraction Orthostatic syncope Abnormal ventricular filling Peripheral edema Biventricular hypertrophy Atrial arrhythmia Abnormal echocardiogram Right ventricular hypertrophy Carious teeth Edema of the lower limbs Exertional dyspnea Trifascicular block Left anterior fascicular block Abnormal levels of creatine kinase in blood Left bundle branch block Arthralgia Nausea and vomiting Fatigue Oliguria Macrocephaly Abnormal bowel sounds Narrow foramen obturatorium Hypertensive crisis Decreased urine output Dyspareunia Osteolytic defects of the phalanges of the hand Pulmonary arterial hypertension Pulmonary infiltrates Xerostomia Telangiectasia of the skin Pulmonary fibrosis Osteolysis Skin ulcer Dysphonia Nasal speech Spinal arteriovenous malformation Atherosclerosis Transient ischemic attack Abnormality of the vasculature Thrombocytosis Subarachnoid hemorrhage Elevated alkaline phosphatase Ischemic stroke Ascites Hypoxemia Hematuria Cirrhosis Abnormality of the liver Encephalopathy Pica Third degree atrioventricular block Esophageal varix Migraine with aura Intestinal pseudo-obstruction Lip telangiectasia Pulmonary arteriovenous malformation Brain abscess Right-to-left shunt Coronary artery aneurysm Hemangiomatosis Cerebral arteriovenous malformation Gastrointestinal angiodysplasia Conjunctival telangiectasia Pulmonary hemorrhage Polycystic liver disease Focal sensory seizure Arteriovenous fistula Spontaneous, recurrent epistaxis Venous malformation Sick sinus syndrome Myofibrillar myopathy Generalized amyotrophy Myopathy Syncope Tachycardia Lower limb muscle weakness Muscular dystrophy Joint stiffness Myalgia Gait disturbance Myocardial infarction Delayed speech and language development Cataract Scoliosis Spinal deformities Proximal amyotrophy Progressive external ophthalmoplegia Ventricular hypertrophy Palpitations Atrial flutter Bundle branch block Ventricular extrasystoles Progressive proximal muscle weakness Rimmed vacuoles Hypokinesia Difficulty climbing stairs Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Progressive muscle weakness Tricuspid regurgitation Akinesia Limb-girdle muscular dystrophy Scapular winging Elbow flexion contracture Muscle stiffness Thiamine-responsive megaloblastic anemia



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