Cardiomyopathy, and Arthritis

Diseases related with Cardiomyopathy and Arthritis

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


Top matches:

Low match NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1


Nephronophthisis is an autosomal recessive cystic kidney disease characterized by onset of end-stage renal failure in the first 3 decades of life. The disorder is often associated with extrarenal manifestations, including liver fibrosis, retinal degeneration, and central nervous system abnormalities (summary by O'Toole et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

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

Low 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:

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 GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Low match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

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 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

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 ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Arthritis

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

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

Uncommon Symptoms - Between 30% and 50% cases


Arthralgia Anemia Cirrhosis Abnormality of the liver Abdominal pain Increased serum ferritin Diabetes mellitus Seizures Muscle weakness Ataxia Hyperpigmentation of the skin Amenorrhea Hearing impairment Sensorineural hearing impairment Elevated hepatic transaminase Renal insufficiency Migraine Generalized hyperpigmentation Dilated cardiomyopathy Congestive heart failure Increased serum iron Hypogonadotrophic hypogonadism Gout

Rare Symptoms - Less than 30% cases


Splenomegaly Congenital hepatic fibrosis Azoospermia Arthropathy Osteoporosis Hypogonadism Intellectual disability Elevated transferrin saturation Cardiomegaly Vomiting Paresthesia Myalgia Recurrent infections Neoplasm Fever Hyperhidrosis Weight loss Hypertrophic cardiomyopathy Neurological speech impairment Vasculitis Joint swelling Hepatomegaly Peripheral neuropathy Hepatic fibrosis Tremor Osteoarthritis Peripheral axonal neuropathy Hepatic steatosis Restrictive cardiomyopathy Polyneuropathy Areflexia Hydrocephalus Spastic paraparesis Paraparesis Abnormal autonomic nervous system physiology Peripheral demyelination Hallucinations Hemiparesis Bilateral sensorineural hearing impairment Cachexia Atrioventricular block Axonal degeneration Rheumatoid arthritis Cerebral hemorrhage Malnutrition Aphasia Hypotelorism Orthostatic hypotension Convex nasal ridge Triangular face Decreased number of peripheral myelinated nerve fibers Amyloidosis Neuronal loss in central nervous system Hypotension Hyperuricemia Dementia Increased CSF protein Dysarthria Visual impairment Spasticity Diarrhea Headache Hyporeflexia Nystagmus Constipation Uric acid nephrolithiasis Abnormality of skeletal muscles Excessive purine production Arnold-Chiari type I malformation Facial palsy Malabsorption Paraplegia Increased urinary hypoxanthine Hyperuricosuria Abnormal aortic morphology Nephropathy Coma High-frequency hearing impairment Gliosis Urinary incontinence Syringomyelia Coarse facial features Multiple myeloma Dysuria Acanthosis nigricans Widely spaced teeth Cerebral palsy Sleep apnea Growth abnormality Acne Large hands Spinal canal stenosis Palpebral edema Growth hormone excess Broad foot Abnormal toenail morphology Abnormality of the endocrine system Neoplasm of the endocrine system Generalized hirsutism Deep palmar crease Anterior hypopituitarism Pheochromocytoma Long penis Paraganglioma Hypersomnia Galactorrhea Deep plantar creases Pituitary prolactin cell adenoma Dysmenorrhea Macrodactyly Broad jaw Abnormality of reproductive system physiology Abnormality of the fingernails Hoarse voice Stroke-like episode Depressivity Constrictive median neuropathy Myelopathy Abnormal renal physiology Sensory ataxia Urinary retention Psychomotor deterioration Orthostatic hypotension due to autonomic dysfunction Vitreous floaters Cardiac amyloidosis Amyloid deposition in the vitreous humor Frontal bossing Abnormality of the dentition Kyphosis Mandibular prognathia Thickened skin Macrotia Abnormality of eye movement Anxiety Broad forehead Synophrys Long face Wide nose Tapered finger Macroglossia Full cheeks Thick lower lip vermilion Mitral regurgitation Tall stature Dysmetria Osteomalacia Hypermetropia Exercise intolerance Blindness Myopathy Elevated serum creatine phosphokinase Respiratory failure Jaundice Corneal opacity Nausea and vomiting Limb muscle weakness Nausea Hemolytic anemia Muscle cramps Cerebral visual impairment Easy fatigability Abnormality of endocrine pancreas physiology Cholelithiasis Polycythemia Reticulocytosis Myoglobinuria Nonspherocytic hemolytic anemia Dark urine Increased total bilirubin Gastric ulcer Exercise-induced muscle cramps Exercise-induced myoglobinuria Increased muscle glycogen content Reduced erythrocyte 2,3-diphosphoglycerate concentration Flexion contracture Abnormality of the anterior pituitary Retinopathy Tubular basement membrane disintegration Abnormality of the kidney Stage 5 chronic kidney disease Retinal degeneration Renal cyst Pancreatitis Nephronophthisis Arachnoid cyst Tubular atrophy Kinetic tremor Pancreatic cysts Chronic pancreatitis Renal corticomedullary cysts Neutropenia Abnormality of iron homeostasis Lymphopenia Purpura Cataract Respiratory distress Scarring Limitation of joint mobility Joint dislocation Glucose intolerance Lethargy Delayed puberty Infertility Portal hypertension Dilatation Chest pain Wide mouth Constrictive pericarditis Pleural effusion Abnormal joint morphology Pericarditis Hepatocellular carcinoma Increased reactive oxygen species production Acute hepatic failure Neoplasm of the liver Testicular atrophy Alcoholism Abnormal glucose tolerance Microvesicular hepatic steatosis Cholangiocarcinoma Aceruloplasminemia Telangiectasia Global developmental delay Generalized hypotonia Growth delay Strabismus Muscular hypotonia Motor delay Epicanthus Hypertonia Pneumonia Prominent forehead Hyperactivity Abnormality of the nervous system Insulin resistance Hepatitis Pulmonary arterial hypertension Inflammatory abnormality of the eye Myocardial infarction Subcutaneous nodule Anorexia Skin ulcer Aortic regurgitation Psoriasiform dermatitis Abnormal heart valve morphology Hemoptysis Gangrene Cerebral ischemia Reduced consciousness/confusion Abnormal aortic valve morphology Abnormal pattern of respiration Ascites Arterial stenosis Ascending tubular aorta aneurysm Abnormal endocardium morphology Amaurosis fugax Gastrointestinal infarctions Arteritis Hypertensive crisis Increased inflammatory response Alopecia Osteopenia Carcinoma Hepatic failure Cortical diaphyseal thickening of the upper limbs



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Hypertonia, related diseases and genetic alterations Hyperreflexia and Premature birth, related diseases and genetic alterations Delayed speech and language development and Nevus, related diseases and genetic alterations Tremor and Generalized myoclonic seizures, related diseases and genetic alterations

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