Cardiomyopathy, and Rheumatoid arthritis

Diseases related with Cardiomyopathy and Rheumatoid arthritis

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


Top matches:

Medium 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

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

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Other less relevant 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

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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Rheumatoid arthritis

Symptoms // Phenotype % cases
Arthritis Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Abdominal pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arthralgia Anemia Impotence Abnormality of the liver Cirrhosis Arrhythmia Increased serum ferritin Muscle weakness Retinopathy Migraine Sensorineural hearing impairment Vasculitis Myalgia Hearing impairment Elevated hepatic transaminase Ataxia Amenorrhea Hyperpigmentation of the skin Hypogonadotrophic hypogonadism Increased serum iron Diabetes mellitus Cataract Blindness Splenomegaly Dilatation Weight loss Renal insufficiency Hypertension Dilated cardiomyopathy Congestive heart failure Fever

Rare Symptoms - Less than 30% cases


Venous thrombosis Pleural effusion Headache Hemoptysis Retinal degeneration Reduced visual acuity Intellectual disability Aortic regurgitation Pericarditis Pancreatitis Diarrhea Hepatic steatosis Neurological speech impairment Hepatic fibrosis Visual loss Elevated transferrin saturation Arthropathy Gangrene Azoospermia Generalized hyperpigmentation Cerebral ischemia Respiratory distress Hypogonadism Vomiting Behavioral abnormality Osteoporosis Hepatomegaly Congenital hepatic fibrosis Anorexia Subcutaneous nodule Myocardial infarction Scarring Paresthesia Alopecia Nystagmus Neoplasm Recurrent aphthous stomatitis Increased inflammatory response Malabsorption Cardiomegaly Hemiparesis Delayed puberty Gout Stroke Cerebral hemorrhage Neutropenia Nausea and vomiting Tremor Chest pain Restrictive cardiomyopathy Recurrent infections Visual impairment Immunologic hypersensitivity Iritis Optic neuritis Pleuritis Thrombophlebitis Alopecia areata Orchitis Iridocyclitis Retrobulbar optic neuritis Stomatitis Endocarditis Posterior uveitis Chorioretinitis Abnormal myocardium morphology Arterial thrombosis Erythema nodosum Superficial thrombophlebitis Anterior uveitis Oral ulcer Epiphora Myositis Dyspnea Cough Abnormal pyramidal sign Autoimmunity Joint stiffness Erythema Irritability Developmental regression Photophobia Glaucoma Confusion Gait disturbance Hyperreflexia Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Papule Lymphadenopathy Raynaud phenomenon Inflammation of the large intestine Pulmonary infiltrates Pustule Uveitis Aseptic necrosis Pulmonary embolism Keratoconjunctivitis sicca Glomerulopathy Blurred vision Acne Vertigo Encephalitis Increased intracranial pressure Cranial nerve paralysis Meningitis Mitral regurgitation Abnormal blistering of the skin Memory impairment Gastrointestinal hemorrhage Panuveitis Abnormal glucose tolerance Genital ulcers Pulmonary arterial hypertension Cholangiocarcinoma Abnormal pattern of respiration Inflammatory abnormality of the eye Abnormal aortic valve morphology Reduced consciousness/confusion Abnormal heart valve morphology Psoriasiform dermatitis Skin ulcer Hypertrophic cardiomyopathy Ascending tubular aorta aneurysm Hyperhidrosis Reduced erythrocyte 2,3-diphosphoglycerate concentration Increased muscle glycogen content Exercise-induced myoglobinuria Exercise-induced muscle cramps Gastric ulcer Increased total bilirubin Dark urine Arterial stenosis Abnormal endocardium morphology Myoglobinuria Abnormal joint morphology Alcoholism Testicular atrophy Neoplasm of the liver Acute hepatic failure Microvesicular hepatic steatosis Increased reactive oxygen species production Hepatocellular carcinoma Osteomalacia Insulin resistance Amaurosis fugax Telangiectasia Hepatitis Ascites Hepatic failure Carcinoma Osteopenia Hypertensive crisis Arteritis Gastrointestinal infarctions Nonspherocytic hemolytic anemia Reticulocytosis Epididymitis Chronic pancreatitis Osteoarthritis Limitation of joint mobility High-pitched cry Purpura Lymphopenia Constrictive pericarditis Tubular basement membrane disintegration Renal corticomedullary cysts Pancreatic cysts Glucose intolerance Kinetic tremor Tubular atrophy Arachnoid cyst Nephronophthisis Renal cyst Stage 5 chronic kidney disease Abnormality of the kidney Hypopyon Decreased level of D-mannose in urine Joint dislocation Joint swelling Polycythemia Corneal opacity Cholelithiasis Easy fatigability Exercise intolerance Cerebral visual impairment Muscle cramps Hemolytic anemia Nausea Limb muscle weakness Jaundice Lethargy Respiratory failure Elevated serum creatine phosphokinase Myopathy Flexion contracture Abnormality of endocrine pancreas physiology Abnormality of the anterior pituitary Abnormality of iron homeostasis Portal hypertension Infertility Thick corpus callosum Facial hypotonia Chorioretinal dysplasia High palate Ventricular septal defect Abnormality of the skeletal system Downslanted palpebral fissures Macrocephaly Optic atrophy Intrauterine growth retardation Myopia Depressed nasal bridge Motor delay Ptosis Kyphosis Cryptorchidism Muscular hypotonia Abnormal facial shape Strabismus Micrognathia Failure to thrive Hypertelorism Growth delay Scoliosis Edema Malar flattening Generalized hypotonia Kyphoscoliosis Respiratory tract infection Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Joint laxity Neonatal hypotonia Thin upper lip vermilion Pes planus Retrognathia Macrotia Microphthalmia Gastroesophageal reflux Mandibular prognathia Hypothyroidism Rod-cone dystrophy Cerebellar hypoplasia Clinodactyly of the 5th finger Pectus excavatum Obesity Hernia Thrombocytopenia Microcephaly Short stature Paralysis Nephropathy Hallucinations Bilateral sensorineural hearing impairment Peripheral demyelination Neuronal loss in central nervous system Hypotension Urinary incontinence Gliosis Coma Polyneuropathy Peripheral axonal neuropathy Paraparesis Paraplegia Facial palsy Dementia Constipation Hyporeflexia Areflexia Hydrocephalus Dysarthria Peripheral neuropathy Spasticity Abnormal autonomic nervous system physiology Spastic paraparesis Global developmental delay Constrictive median neuropathy Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Myelopathy Stroke-like episode Atrioventricular block Multiple myeloma Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Aphasia Malnutrition Cachexia Protruding ear Wide mouth Narrow philtrum Abnormality of dental morphology Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Celiac disease Narrow nasal bridge Abnormality of the hip bone Truncal obesity Disproportionate tall stature Constriction of peripheral visual field Posterior subcapsular cataract Cubitus valgus Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Precocious puberty Short metatarsal Reduced number of teeth Laryngomalacia Recurrent skin infections Leukopenia Hiatus hernia Gingivitis Intellectual disability, progressive Macrodontia Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Iris atrophy Microglossia Thick hair Tapetoretinal degeneration Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Misalignment of teeth Vocal cord paralysis Sandal gap Low anterior hairline Nyctalopia Abnormality of skin pigmentation Highly arched eyebrow Retinal detachment Small hand High, narrow palate Thick vermilion border Retinal dystrophy Iris coloboma Thick eyebrow Joint hypermobility Arachnodactyly Single transverse palmar crease Astigmatism Smooth philtrum Joint hyperflexibility Genu valgum Synophrys Severe global developmental delay Finger syndactyly Small for gestational age Prominent nasal bridge Short philtrum Tapered finger Microcornea Preauricular skin tag High myopia Progressive microcephaly Abnormality of retinal pigmentation Gingival overgrowth Exotropia Long eyelashes Tall stature Clumsiness Open mouth Lumbar hyperlordosis Decreased fetal movement Hypoplasia of the maxilla Mitral valve prolapse Narrow forehead Pigmentary retinopathy Progressive visual loss Convex nasal ridge Otitis media Aciduria Growth hormone deficiency Prominent nose Short metacarpal Aceruloplasminemia



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