Arthritis, and Dilated cardiomyopathy

Diseases related with Arthritis and Dilated cardiomyopathy

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


Top matches:

Medium 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

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 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

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Other less relevant matches:

Medium match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

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

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 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 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

Top 5 symptoms//phenotypes associated to Arthritis and Dilated cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Very Common - Between 80% and 100% cases
Pain Common - Between 50% and 80% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Fatigue Abdominal pain Abnormality of the liver Arthralgia Cirrhosis Congestive heart failure Hypogonadotrophic hypogonadism Impotence Increased serum ferritin Hyperpigmentation of the skin Hepatic steatosis Cardiomegaly Elevated hepatic transaminase Increased serum iron Diabetes mellitus Hypogonadism Osteoporosis Amenorrhea Intellectual disability Hearing impairment Muscle weakness Seizures Sensorineural hearing impairment Gout Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases


Ataxia Myocardial infarction Chest pain Convex nasal ridge Recurrent infections Neurological speech impairment Alopecia Osteopenia Left ventricular hypertrophy Hypermetropia Osteoarthritis Hepatic fibrosis Prominent forehead Flexion contracture Cataract Abnormal facial shape Myalgia Growth delay Insulin resistance Neoplasm Carcinoma Elevated transferrin saturation Azoospermia Renal insufficiency Hepatomegaly Splenomegaly Delayed puberty Infertility Limitation of joint mobility Arthropathy Congenital hepatic fibrosis Generalized hyperpigmentation Myoglobinuria Reticulocytosis Polycythemia Intermittent claudication Cholelithiasis Easy fatigability Exercise intolerance Dark urine Cerebral visual impairment Muscle cramps Hemolytic anemia Nausea Limb muscle weakness Nonspherocytic hemolytic anemia Old-aged sensorineural hearing impairment Corneal arcus Nausea and vomiting Increased total bilirubin Gastric ulcer Exercise-induced muscle cramps Decreased testosterone in males Premature coronary artery atherosclerosis Exercise-induced myoglobinuria Thin nail Absence of subcutaneous fat Increased muscle glycogen content Reduced erythrocyte 2,3-diphosphoglycerate concentration Bilateral coxa valga Hip pain Sinus tachycardia Mitral valve calcification Widely patent fontanelles and sutures Purpura Fever Carotid artery stenosis Absence of pubertal development Insulin-resistant diabetes mellitus at puberty Reticulated skin pigmentation Abnormal trabecular bone morphology Craniofacial disproportion Regional abnormality of skin Arteriosclerosis of small cerebral arteries Tapering pointed ends of distal finger phalanges Neutropenia Lymphopenia Hypoplastic facial bones Respiratory distress Parietal bossing Scarring Joint dislocation Glucose intolerance Joint swelling Blindness Myopathy Vomiting Elevated serum creatine phosphokinase Respiratory failure Narrow nasal tip Prominent scalp veins Bird-like facies Corneal opacity Jaundice Abnormal endocardium morphology Dilatation Hyperuricosuria Pneumonia Hyperactivity Abnormality of the nervous system Wide mouth Abnormality of eye movement Dysmetria Peripheral axonal neuropathy Polyneuropathy Triangular face Hypotelorism Hyperuricemia Arnold-Chiari type I malformation High-frequency hearing impairment Abnormal aortic morphology Increased urinary hypoxanthine Hypertonia Hydrops fetalis Left ventricular noncompaction Right ventricular hypertrophy Tricuspid regurgitation Pterygium Ventricular arrhythmia Cardiac arrest Ventricular hypertrophy Excessive purine production Depressivity Edema High palate Low-set ears Uric acid nephrolithiasis Abnormality of skeletal muscles Areflexia Peripheral neuropathy Hyperhidrosis Reduced consciousness/confusion Weight loss Retinopathy Migraine Pulmonary arterial hypertension Subcutaneous nodule Anorexia Skin ulcer Vasculitis Aortic regurgitation Psoriasiform dermatitis Abnormal heart valve morphology Hemoptysis Gangrene Cerebral ischemia Abnormal aortic valve morphology Epicanthus Hypertensive crisis Motor delay Muscular hypotonia Strabismus Generalized hypotonia Global developmental delay Increased inflammatory response Arteritis Inflammatory abnormality of the eye Gastrointestinal infarctions Amaurosis fugax Narrow nasal ridge Ascending tubular aorta aneurysm Arterial stenosis Abnormal pattern of respiration Aplastic clavicle Exertional dyspnea Arteriosclerosis Short nose Abnormal glucose tolerance Microvesicular hepatic steatosis Cholangiocarcinoma Constrictive pericarditis Aceruloplasminemia Short stature Scoliosis Failure to thrive Micrognathia Skeletal muscle atrophy Macrocephaly Abnormality of the skeletal system Abnormality of the dentition Kyphosis Malar flattening Testicular atrophy Midface retrusion Dementia Narrow mouth Proptosis Dyspnea Macrotia Conductive hearing impairment Joint stiffness Sparse hair Stroke Microtia Hip dislocation Hypotrichosis Carious teeth Alcoholism Restrictive cardiomyopathy Thin vermilion border Lethargy Tremor 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 Tubular basement membrane disintegration Portal hypertension Neoplasm of the liver Abnormality of iron homeostasis Abnormality of the anterior pituitary Abnormality of endocrine pancreas physiology Hepatic failure Ascites Hepatitis Telangiectasia Pleural effusion Abnormal joint morphology Osteomalacia Pericarditis Hepatocellular carcinoma Increased reactive oxygen species production Acute hepatic failure Narrow chest Delayed eruption of teeth Carcinoid tumor Fragile nails Premature graying of hair Prolonged QT interval Lipoatrophy Scleroderma Thin ribs Keratoconjunctivitis sicca Hypoplastic nipples Renal cell carcinoma Short clavicles Alopecia of scalp Thrombocytosis Abnormal EKG Absent eyelashes Transient ischemic attack Down-sloping shoulders Multiple joint contractures Hyperphosphatemia Ovoid vertebral bodies Osteolytic defects of the phalanges of the hand Prominent superficial veins Angina pectoris Lack of skin elasticity Generalized osteoporosis Small face Aplasia/Hypoplasia of the earlobes Precocious atherosclerosis Enlarged joints Thin bony cortex Decreased serum estradiol Prolonged prothrombin time High pitched voice Heart murmur Hypodontia Hypergonadotropic hypogonadism Growth hormone deficiency Nail dysplasia Cyanosis Abnormality of the cardiovascular system Hypertriglyceridemia Thin skin Broad-based gait Decreased body weight Dental crowding Hypohidrosis Sparse and thin eyebrow Aortic valve stenosis Aspiration Increased bone mineral density Coxa valga Abnormality of the thorax Aminoaciduria Osteolysis Atherosclerosis Hyperlipidemia Acanthosis nigricans Hypercholesterolemia Relative macrocephaly Dermal atrophy Nasal speech Intracranial hemorrhage Lipodystrophy Hyperinsulinemia Premature ovarian insufficiency Metaphyseal widening Multiple pterygia



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