Cardiomyopathy, and Subcutaneous nodule

Diseases related with Cardiomyopathy and Subcutaneous nodule

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


Top matches:

Medium 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

Medium match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Medium match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

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

Low match ATAXIA WITH VITAMIN E DEFICIENCY


Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

Low match WELL-DIFFERENTIATED LIPOSARCOMA


Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes.

WELL-DIFFERENTIATED LIPOSARCOMA Is also known as alt|atypical lipoma|wdls|atypical lipomatous tumor

Related symptoms:

  • Subcutaneous nodule
  • Gastrointestinal dysmotility
  • Abnormal renal physiology


SOURCES: ORPHANET MENDELIAN

More info about WELL-DIFFERENTIATED LIPOSARCOMA

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND


Related symptoms:

  • Cardiomyopathy
  • Hyperkeratosis
  • Scarring
  • Muscular dystrophy
  • Papule


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Subcutaneous nodule

Symptoms // Phenotype % cases
Papule Common - Between 50% and 80% cases
Myocardial infarction Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
Chest pain Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Visual loss Stroke Abnormal endocardium morphology Hearing impairment Sensorineural hearing impairment Hyperkeratosis Arrhythmia Renal insufficiency Hypertension Retinopathy Fatigue Fever Myalgia Arthralgia Arthritis Hypertrophic cardiomyopathy Peripheral neuropathy Skin rash Angina pectoris Pruritus Gastrointestinal hemorrhage Mitral valve prolapse Mitral regurgitation Scarring Telangiectasia of the skin Cough Abdominal pain Vertigo Malabsorption Developmental regression Muscle weakness Pain Dyspnea Cognitive impairment Glomerulopathy Thick vermilion border Paresthesia Nausea and vomiting Abnormal mitral valve morphology Headache Anorexia Vasculitis Gangrene Aortic regurgitation Increased inflammatory response Scoliosis Hemoptysis Abnormal aortic valve morphology Visual impairment Weight loss Cerebral ischemia

Rare Symptoms - Less than 30% cases


Pulmonary infiltrates Depressed nasal bridge Myositis Mandibular prognathia Wheezing Chronic obstructive pulmonary disease Intellectual disability, mild Abnormality of the nose Posteriorly rotated ears Pleuritis Abnormal heart valve morphology Short stature Abnormality of the kidney Endocarditis Edema Cataract Hyperkeratotic papule Abnormal renal physiology Diarrhea Behavioral abnormality Gastrointestinal dysmotility Coarse facial features Pericarditis Intrauterine growth retardation Skin ulcer Ataxia Respiratory insufficiency Anemia Hyperhidrosis Proteinuria Autoimmunity Neurological speech impairment Migraine Hematuria Nephropathy Sensory neuropathy Angiokeratoma corporis diffusum Meningitis Purpura Elevated erythrocyte sedimentation rate Gait disturbance Bundle branch block Pancreatitis Cranial nerve paralysis Venous thrombosis Hemiplegia Angiokeratoma Pleural effusion Abnormal pyramidal sign Left ventricular hypertrophy Diabetes insipidus Abnormal blistering of the skin Delayed puberty Abnormality of the nervous system Redundant neck skin Tricuspid regurgitation Hemiplegia/hemiparesis Aminoaciduria Arteritis Sudden cardiac death Hyperextensible skin Joint hyperflexibility Thick lower lip vermilion Peripheral arterial stenosis Coronary artery atherosclerosis Tinnitus Growth delay Arterial stenosis Lymphedema Hypothyroidism Congestive heart failure Blindness Excessive wrinkled skin Abnormality of the cerebral white matter Abnormal myocardium morphology Abnormality of the cardiovascular system Ischemic stroke Abnormality of cardiovascular system morphology Inflammatory abnormality of the eye Acne Reduced visual acuity Restrictive cardiomyopathy Distal renal tubular acidosis Increased blood urea nitrogen Transient ischemic attack Reduced sperm motility Xerostomia Impotence Vascular tortuosity Abnormal EKG Renal tubular dysfunction Impaired temperature sensation Abnormality of lipid metabolism Celiac disease Concentric hypertrophic cardiomyopathy Orthostatic hypotension Coronary artery stenosis Shortened PR interval Progressive sensorineural hearing impairment Impaired vibratory sensation Interstitial pulmonary abnormality Obstructive lung disease Decreased lacrimation Glycosuria Shortened QT interval Hyposthenuria Renal tubular acidosis Aortic root aneurysm Decreased glomerular filtration rate High-frequency hearing impairment Nephrogenic diabetes insipidus Abnormal thrombosis Primary hypothyroidism Microalbuminuria Myocardial fibrosis Conjunctival telangiectasia Chronic fatigue Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Tubulointerstitial fibrosis Biventricular hypertrophy Abnormality of femur morphology Chronic pain Emphysema Anhidrosis Miosis T-wave inversion Periorbital fullness Asymmetric septal hypertrophy Sinus bradycardia Achalasia Edema of the lower limbs Supraventricular tachycardia Tubulointerstitial nephritis Elevated serum creatinine Tubular atrophy Abnormality of the gastrointestinal tract Oligospermia Large earlobe Abnormality of temperature regulation Loss of consciousness Limb pain Abnormality of cardiovascular system physiology Heat intolerance Reduced ejection fraction Polyuria Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Clubbing of fingers Abnormality of the renal tubule Rheumatoid arthritis Mucosal telangiectasiae Rod-cone dystrophy Abnormality of visual evoked potentials Steatorrhea Dysdiadochokinesis Slurred speech Hypercholesterolemia Abnormality of retinal pigmentation Hypertriglyceridemia Dysmetria Lower limb muscle weakness Nyctalopia Mental deterioration Diabetes mellitus Pes cavus Fat malabsorption Areflexia Dystonia Hypertonia Tremor Skeletal muscle atrophy Dysarthria Spasticity Nystagmus Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Spinocerebellar tract degeneration Increased LDL cholesterol concentration Superficial thrombophlebitis Opacification of the corneal stroma Skin vesicle Nail dystrophy Muscular dystrophy Telangiectasia of the oral mucosa White mater abnormalities in the posterior periventricular region Distal sensory impairment of all modalities Increased urinary O-linked sialopeptides Lip telangiectasia Progressive distal muscle weakness Motor polyneuropathy Abnormality of the periventricular white matter Axonal degeneration Telangiectasia Xanthelasma Cardiomegaly Bilateral sensorineural hearing impairment Polyneuropathy Distal sensory impairment Peripheral axonal neuropathy Dry skin Distal muscle weakness Abnormality of the eye Cerebral atrophy Tendon xanthomatosis Vitamin E deficiency Abetalipoproteinemia Panuveitis Orchitis Unexplained fevers Increased glomerular filtration rate Joint stiffness Erythema Irritability Photophobia Glaucoma Alopecia Splenomegaly Hyperreflexia Neoplasm Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased carotid artery intimal medial thickness Lymphadenopathy Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Confusion Memory impairment Retrobulbar optic neuritis Recurrent aphthous stomatitis Iritis Iridocyclitis Posterior uveitis Anterior uveitis Optic neuritis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Oral ulcer Alopecia areata Stomatitis Arterial thrombosis Hemiparesis Raynaud phenomenon Pustule Uveitis Aseptic necrosis Pulmonary embolism Keratoconjunctivitis sicca Blurred vision Epiphora Inflammation of the large intestine Heart murmur Encephalitis Increased intracranial pressure Clubbing Neuritis Personality changes Premature occlusive vascular stenosis Cryptorchidism Muscular hypotonia Hypertelorism Generalized hypotonia Global developmental delay Intellectual disability Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Erythematous papule Low-set ears Subretinal fluid Peau d'orange Peripapillary chorioretinal atrophy Medial calcification of large arteries Generalized arterial calcification Localized skin lesion Arterial calcification Subcutaneous calcification Vascular calcification Accelerated atherosclerosis Ptosis Wide nasal bridge Abnormality of connective tissue Specific learning disability Abnormality of the voice Myelodysplasia Melanoma Spina bifida occulta Scapular winging Cafe-au-lait spot Abnormality of the face Abnormality of the genital system Tetralogy of Fallot Webbed neck Short neck Nevus Triangular face Pulmonic stenosis Pectus carinatum Low-set, posteriorly rotated ears Neonatal hypotonia Brachycephaly Delayed skeletal maturation Pectus excavatum Hypospadias Civatte bodies Renovascular hypertension Bilateral cryptorchidism Abnormality of skin pigmentation Cutis laxa Atherosclerosis Macular degeneration Nephrocalcinosis Blue sclerae Cerebral calcification Abnormality of the skin Postural instability Bruising susceptibility Small for gestational age Intracranial hemorrhage Myopia High palate Hypertensive crisis Gastrointestinal infarctions Amaurosis fugax Ascending tubular aorta aneurysm Abnormal pattern of respiration Reduced consciousness/confusion Psoriasiform dermatitis Pulmonary arterial hypertension Redundant skin Abnormality of the thorax Metamorphopsia Abnormality of the cerebral vasculature Angioid streaks of the fundus Intermittent claudication Retinal hemorrhage Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Arteriosclerosis Pulmonary edema Abnormal thrombocyte morphology Lack of skin elasticity Mitral stenosis Cutis marmorata Drusen Thickened nuchal skin fold Abnormality of the mouth Severe intrauterine growth retardation Severe vision loss Striae distensae Multiple lipomas Chorioretinal atrophy Abnormal retinal morphology Hypermelanotic macule Melanocytic nevus External genital hypoplasia Polydipsia Corneal opacity Urinary incontinence Syncope Abdominal distention Muscle cramps Thick eyebrow Bulbous nose Tachycardia Nausea Stage 5 chronic kidney disease Prominent nasal bridge Nephrotic syndrome Anxiety Carcinoma Constipation Depressivity Midface retrusion Vomiting Optic atrophy Prostatitis Recurrent intrapulmonary hemorrhage Scleritis Hypotension Ventricular hypertrophy Abnormal oral cavity morphology Progressive hearing impairment Glomerulosclerosis Abnormality of the hand Prominent supraorbital ridges Chronic kidney disease Atrioventricular block Easy fatigability Ventricular arrhythmia Reduced bone mineral density Corneal dystrophy Abnormal intestine morphology Atrial fibrillation Ventricular tachycardia Hyperlipidemia Exercise intolerance Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Bradycardia Hypohidrosis Abnormal lung morphology Palpitations Episcleritis Ureteral stenosis Abnormality of the ear Aplasia/Hypoplasia of the abdominal wall musculature Recurrent respiratory infections Respiratory distress Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Multiple lentigines Abnormality of the pulmonary artery Abnormal localization of kidney Shield chest Wolff-Parkinson-White syndrome Hydronephrosis Right ventricular hypertrophy Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Curly hair Neuroblastoma Multiple cafe-au-lait spots Freckling Atrioventricular canal defect Decreased fertility Proptosis Paralysis Granulomatosis Petechiae Subglottic stenosis Ocular pain Rhinorrhea Periorbital edema Elevated C-reactive protein level Nasal obstruction Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Concave nasal ridge Tracheal stenosis Restrictive ventilatory defect Otitis media Pulmonary fibrosis Intestinal obstruction Stridor Chronic otitis media Glomerulonephritis Conjunctivitis Hoarse voice Sinusitis Diplopia Epistaxis Plantar hyperkeratosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hypoglycemia, related diseases and genetic alterations Ventricular septal defect and Bronchiectasis, related diseases and genetic alterations Ventricular septal defect and Craniosynostosis, related diseases and genetic alterations High palate and Epistaxis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more