Congestive heart failure, and Ischemic stroke

Diseases related with Congestive heart failure and Ischemic stroke

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


Top matches:

High match CARDIOMYOPATHY, DILATED, 1E; CMD1E


CARDIOMYOPATHY, DILATED, 1E; CMD1E Is also known as cdcd2|cardiomyopathy, dilated, with conduction defect 2|cardiomyopathy, dilated, with conduction disorder and arrhythmia

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Arrhythmia
  • Dyspnea
  • Stroke


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1E; CMD1E

High match FAMILIAL ATRIAL MYXOMA


Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

High match CARNEY COMPLEX, TYPE 1; CNC1


Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

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Other less relevant matches:

High match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

High 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

High match KAWASAKI DISEASE


Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

High 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

High 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

High match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Ischemic stroke

Symptoms // Phenotype % cases
Stroke Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Fever 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 Ischemic stroke. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Headache Sudden cardiac death Dilatation Cardiomyopathy Short stature Mitral valve prolapse Pain Fatigue Hypothyroidism Ventricular hypertrophy Abnormality of the cardiovascular system Renal insufficiency Tubulointerstitial nephritis Mitral regurgitation Myocardial infarction Nausea and vomiting Proteinuria Abdominal pain Cognitive impairment Sensorineural hearing impairment Arrhythmia Anxiety Postural instability Anemia Muscle weakness Respiratory distress Osteoporosis Growth delay Myalgia Myopathy Papule Atrioventricular block Pruritus Attention deficit hyperactivity disorder Portal hypertension Nausea Malabsorption Developmental regression Abnormal endocardium morphology Hypertrophic cardiomyopathy Constipation Depressivity Encephalopathy Global developmental delay Hearing impairment Cataract Visual loss Visual impairment Tricuspid regurgitation Atrial fibrillation Arthralgia Heart murmur Hematuria Chest pain Ascites Diarrhea Skin rash Syncope Easy fatigability Palpitations Confusion Jaundice Transient ischemic attack Edema Behavioral abnormality Coronary artery atherosclerosis Migraine Ptosis

Rare Symptoms - Less than 30% cases


Angina pectoris Telangiectasia of the skin Abnormality of the cerebral vasculature Peripheral arterial stenosis Multiple lipomas Interstitial pulmonary abnormality Restrictive cardiomyopathy Arthritis Abnormal mitral valve morphology Arterial stenosis Cerebral cortical atrophy Renovascular hypertension Hyperkeratotic papule Hemiplegia/hemiparesis Subcutaneous nodule Redundant skin Intrauterine growth retardation Elevated erythrocyte sedimentation rate Abnormal heart valve morphology Hyponatremia Aortic root aneurysm Gastroesophageal reflux Abnormal myocardium morphology Scoliosis Erythema Neurological speech impairment Blindness Cutis laxa Carious teeth Scarring Small for gestational age Joint hyperflexibility Irritability Cerebral calcification Autism Nephrocalcinosis Feeding difficulties in infancy Macular degeneration Peripheral neuropathy Tremor Optic atrophy Hypogonadotrophic hypogonadism Renal tubular dysfunction Large earlobe Dysmetria Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Periorbital fullness Abnormality of the renal tubule Dysesthesia Retinal vascular tortuosity Vascular tortuosity Hypercalciuria Schizophrenia Coronary artery stenosis Gingival overgrowth Abnormality of lipid metabolism Involuntary movements Hemiparesis Type II diabetes mellitus Intellectual disability Microcephaly Ataxia Failure to thrive Muscular hypotonia Kyphosis Feeding difficulties Hyperreflexia Hypertonia Abnormality of the dentition Dysarthria Xerostomia Glomerulopathy Respiratory insufficiency Nephrotic syndrome Vomiting Diabetes mellitus Midface retrusion Coarse facial features Gait disturbance Abnormality of the kidney Tubulointerstitial abnormality Corneal opacity Delayed puberty Paresthesia Vertigo Thick vermilion border Nephropathy Muscle cramps Coronary artery aneurysm Celiac disease Gait imbalance Progressive sensorineural hearing impairment Bundle branch block Loss of consciousness Polyuria Cerebral ischemia Personality changes Hemiplegia Left ventricular hypertrophy Chronic kidney disease Reduced bone mineral density Progressive hearing impairment Purpura Exercise intolerance Anorexia Thick lower lip vermilion Myopia Protruding ear Precocious puberty Inguinal hernia Increased body weight Abnormality of the liver Subarachnoid hemorrhage Gastrointestinal hemorrhage Growth hormone excess Hypermelanotic macule Abnormality of the skin Cerebral hemorrhage Cholestasis Atherosclerosis Cardiomegaly Clubbing Coma Edema of the lower limbs Pulmonary edema Atrial septal defect Coarctation of aorta Right ventricular hypertrophy Small nail Weight loss Cardiac myxoma Pulmonary arterial hypertension Esophageal varix Hip dysplasia Hirsutism Proximal muscle weakness Pulmonic stenosis Abnormality of the cerebral white matter Carcinoma Abnormal cardiac septum morphology Umbilical hernia Abnormality of skin pigmentation Abnormal heart morphology Cutis marmorata Motor delay Blue irides Heart block Supraventricular tachycardia Conjunctival telangiectasia Ventricular arrhythmia Bradycardia Striae distensae Dilated cardiomyopathy Abnormality of the vasculature Hernia Ventricular septal defect Neonatal hypoglycemia Persistence of primary teeth Flat cornea Rhabdomyolysis Progressive external ophthalmoplegia Mitochondrial myopathy Thyroiditis Obsessive-compulsive trait Hypoparathyroidism Vitiligo Aortic arch aneurysm Abnormality of visual evoked potentials Primary adrenal insufficiency Hashimoto thyroiditis Atopic dermatitis Abnormality of immune system physiology Nocturia Drowsiness Distal arthrogryposis Leber optic atrophy Spontaneous hematomas Gastroparesis Overriding aorta Abnormality of the ankles Pulmonary embolism Posterior subcapsular cataract Renal artery stenosis Delusions Hemianopia Left ventricular failure Abnormality of the bladder Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Retinal arteriolar tortuosity Seborrheic dermatitis Stroke-like episode Proximal tubulopathy Anterior hypopituitarism Ileus Hyperacusis Reduced consciousness/confusion Supravalvular aortic stenosis Pelvic kidney Synostosis of joints Cardiorespiratory arrest Episodic vomiting Motor polyneuropathy Wolff-Parkinson-White syndrome Increased CSF lactate Food intolerance Infantile hypercalcemia Psychomotor deterioration Visual hallucinations Abnormality of the gastric mucosa Aortic dissection Muscle fiber atrophy Abnormal social behavior Speech apraxia Facial diplegia Writer's cramp Adrenal insufficiency Hyperthyroidism Generalized-onset seizure Increased serum lactate Memory impairment Specific learning disability Thyroid hemiagenesis Bilateral vocal cord paralysis Amenorrhea Pigmentary retinopathy Bilateral sensorineural hearing impairment Nystagmus-induced head nodding Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Status epilepticus Psychosis Abnormal carotid artery morphology Hypertrichosis Decreased body weight Sensory impairment Overfriendliness Hallucinations Functional abnormality of male internal genitalia Generalized tonic-clonic seizures Lethargy Arthrogryposis multiplex congenita Ophthalmoplegia Congenital cataract Vocal cord dysfunction Anal atresia Descending aorta hypoplasia Ichthyosis Generalized myoclonic seizures Peripheral axonal neuropathy Lactic acidosis Stellate iris Dyssynergia Polymicrogyria Polyneuropathy Abnormal cerebellum morphology Early onset of sexual maturation Abnormality of retinal pigmentation Cerebral visual impairment Basal ganglia calcification Overlapping toe Ophthalmoparesis Intestinal obstruction Calcification of the aorta Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Focal segmental glomerulosclerosis Abnormality of neuronal migration Amaurosis fugax Aortic aneurysm Aphasia Impaired visuospatial constructive cognition Vestibular dysfunction Dysphasia Hyperkalemia Visual field defect Prolonged QT interval Vertebral fusion Abnormality of mitochondrial metabolism Bilateral ptosis Clonus Ragged-red muscle fibers Cardiac arrest Truncal ataxia EMG abnormality Generalized hirsutism Type I diabetes mellitus Pancreatitis External ophthalmoplegia Reduced tendon reflexes Hypopigmented skin patches Unilateral renal hypoplasia Mutism Paroxysmal bursts of laughter Goiter Hyperkinesis Growth abnormality Cachexia Decreased nerve conduction velocity Myxomatous mitral valve degeneration Colonic diverticula Chronic otitis media Auditory hallucinations Microdontia Vesicoureteral reflux Dental malocclusion Posterior embryotoxon Esotropia Otitis media Megalocornea Insomnia Renal agenesis Restlessness Macroglossia Facial cleft Dehydration Prematurely aged appearance Tetralogy of Fallot Narrow forehead Hypotelorism Hypoplasia of penis Abnormality of extrapyramidal motor function Full cheeks Broad nasal tip Renal hypoplasia Joint stiffness Nevus flammeus Arnold-Chiari type I malformation Cleft lip Intellectual disability, moderate Low-set, posteriorly rotated ears Hyperlordosis Autistic behavior Paralysis Wide mouth Hypodontia Craniosynostosis Blepharophimosis Broad forehead Genu valgum Smooth philtrum Oral cleft Everted lower lip vermilion Sleep disturbance Hypsarrhythmia High hypermetropia Soft skin Adducted thumb Abnormality of the fingernails Spina bifida occulta Abnormal dermatoglyphics Widely spaced teeth Bicuspid aortic valve Sacral dimple Infantile muscular hypotonia Arnold-Chiari malformation Abnormality of pelvic girdle bone morphology Hemivertebrae Incoordination Polycystic ovaries Dysphonia Cholelithiasis Hypercalcemia Failure to thrive in infancy Radioulnar synostosis Abnormality of the voice Abnormality of dental enamel Pointed chin Vertebral segmentation defect Hypoplastic toenails Recurrent otitis media Open mouth Premature graying of hair Abnormal form of the vertebral bodies Hallux valgus Open bite Glucose intolerance Tracheoesophageal fistula Abnormality of dental morphology Increased bone mineral density Unilateral renal agenesis Obsessive-compulsive behavior Recurrent urinary tract infections Nephrolithiasis Amblyopia Aortic valve stenosis Hoarse voice Narrow face Joint laxity Poor coordination Abnormal nerve conduction velocity Abnormal mitochondrial shape Lacrimation abnormality Abnormal renal morphology Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Paralytic ileus Cystic renal dysplasia Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Bladder diverticulum Peptic ulcer Micrognathia Parathyroid hyperplasia Renal Fanconi syndrome Renal duplication Aplasia/Hypoplasia of the iris Thyroid hypoplasia Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Psychotic episodes Nephritis Periorbital edema Abnormality of nervous system morphology Abnormality of the cerebellar vermis Dysgraphia Rectal prolapse Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Generalized hypotonia Strabismus Pulmonary artery stenosis Chronic constipation Glaucoma Micropenis Abnormality of refraction Dyslexia Villous atrophy High forehead Enuresis Abnormality of the neck Macrotia Clinodactyly of the 5th finger Hypoplasia of the zygomatic bone Vocal cord paralysis Kyphoscoliosis Down-sloping shoulders Multiple renal cysts Osteopenia Pes planus Patellar dislocation Recurrent respiratory infections Patent ductus arteriosus Abnormal facial shape Wide nasal bridge Cleft palate Subvalvular aortic stenosis Cryptorchidism Spasticity Flexion contracture Delayed speech and language development Depressed nasal bridge Epicanthus Peripheral pulmonary artery stenosis Pectus excavatum Macrocephaly Decreased plasma carnitine Intellectual disability, mild Short nose Long philtrum Malar flattening Absent speech Obesity Phonophobia Myocardial fibrosis Nyctalopia Fingerpad telangiectases Hepatic arteriovenous malformation Arteriovenous fistulas of celiac and mesenteric vessels Palate telangiectasia Tongue telangiectasia High-output congestive heart failure Nasal mucosa telangiectasia Visual auras Nail bed telangiectasia Pulmonary arteriovenous malformation Venous varicosities of celiac and mesenteric vessels Dilatation of mesenteric artery Gastrointestinal telangiectasia Dilatation of celiac artery Gastrointestinal arteriovenous malformation Respiratory tract infection Lymphadenopathy Hepatitis Spinal arteriovenous malformation Brain abscess Meningitis Venous malformation Hemoptysis Thrombocytosis Hematochezia Hypoxemia Migraine with aura Hematemesis Melena Spontaneous, recurrent epistaxis Right-to-left shunt Arteriovenous fistula Focal sensory seizure Polycystic liver disease Pulmonary hemorrhage Gastrointestinal angiodysplasia Lip telangiectasia Cerebral arteriovenous malformation Hemangiomatosis Decreased liver function Vasculitis Scleroderma Aseptic leukocyturia Cervical lymphadenopathy Abnormality of nail color Arthralgia/arthritis Pyuria Abnormal emotion/affect behavior Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Strawberry tongue Abnormal gallbladder morphology Conjunctival hyperemia High palate Abnormality of cardiovascular system morphology Reduced visual acuity Retinopathy Bruising susceptibility Blue sclerae Hyperextensible skin Intracranial hemorrhage CSF pleocytosis Abnormal pericardium morphology Conjunctivitis Allergy Cranial nerve paralysis Hypoalbuminemia Scaling skin Leukocytosis Pericarditis Acute kidney injury Myocarditis Recurrent pharyngitis Arteritis Inflammatory abnormality of the eye Elevated C-reactive protein level Cheilitis Synovitis Ascending tubular aorta aneurysm Cholecystitis Abnormal oral mucosa morphology Glossitis Polycythemia Pericardial effusion Acne Macule Nevus Tall stature Cafe-au-lait spot Gynecomastia Hemangioma Sarcoma Neurofibromas Freckling Neoplasm Bipolar affective disorder Increased circulating cortisol level Macroorchidism Pituitary adenoma Generalized hypopigmentation Thyroid carcinoma Pheochromocytoma Paraganglioma Abnormality of the eye Pulmonic valve myxoma Red hair Third degree atrioventricular block Right bundle branch block Ventricular extrasystoles Left bundle branch block Atrial flutter Atrial arrhythmia ST segment elevation Reduced systolic function Premature atrial contractions Bacterial endocarditis Atrial standstill Neoplasm of the skin Exertional dyspnea Thromboembolism Dilatation of the cerebral artery Endocarditis Orthopnea Increased inflammatory response Schwannoma Multiple lentigines Elevated alkaline phosphatase Portal vein thrombosis Dystrophic toenail Calcinosis Prominent superficial veins Right ventricular failure Aplasia cutis congenita of scalp Cavernous hemangioma Hypersplenism Prominent scalp veins Oligodactyly Cutis marmorata telangiectatica congenita Chronic hepatic failure Calcinosis cutis Right atrial enlargement Cirrhosis Cyanosis Epistaxis Telangiectasia Progressive proximal muscle weakness Aplasia cutis congenita Fibroma Cutaneous myxoma Pituitary prolactin cell adenoma Testicular neoplasm Follicular hyperplasia Follicular thyroid carcinoma Uterine leiomyoma Profuse pigmented skin lesions Thyroid follicular hyperplasia Myxoid subcutaneous tumors Brachydactyly Spastic diplegia Splenomegaly Syndactyly Hyperactivity Severe global developmental delay Hepatic failure Hyperammonemia Patent foramen ovale Abnormality of the coagulation cascade Abnormality of the thorax Abnormal retinal morphology Abnormality of the pinna Increased blood urea nitrogen Vascular skin abnormality Corneal crystals Limb pain Abnormality of temperature regulation Nephrogenic diabetes insipidus Decreased glomerular filtration rate Distal renal tubular acidosis Reduced sperm motility Abnormality of cardiovascular system physiology Angiokeratoma Obstructive lung disease Impaired temperature sensation Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Decreased female libido Biventricular hypertrophy Mucosal telangiectasiae Abnormal aortic valve morphology Sinus bradycardia Chronic fatigue Abnormality of femur morphology Abnormality of the nose High-frequency hearing impairment Asymmetric septal hypertrophy Gastrointestinal dysmotility T-wave inversion Primary hypothyroidism Miosis Abnormal renal physiology Chronic pain Tubulointerstitial fibrosis Abnormal thrombosis Abnormal cornea morphology Supraventricular arrhythmia Microalbuminuria Concentric hypertrophic cardiomyopathy Unexplained fevers Chronic obstructive pulmonary disease Rod-cone dystrophy Ventriculomegaly Short neck Cerebellar atrophy Dystonia Cerebral atrophy Areflexia Hyporeflexia Dementia Skeletal muscle atrophy Myoclonus Hypogonadism Gait ataxia Acidosis Photophobia EEG abnormality Apnea Mental deterioration Dysphagia Hepatomegaly ST segment depression Heavy proteinuria Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Acroparesthesia Nystagmus Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Cornea verticillata Hypertelorism Achalasia Clubbing of fingers Chorioretinal atrophy Peau d'orange Vascular calcification Subcutaneous calcification Arterial calcification Localized skin lesion Generalized arterial calcification Medial calcification of large arteries Peripapillary chorioretinal atrophy Subretinal fluid Civatte bodies Erythematous papule Premature occlusive vascular stenosis Medial calcification of medium-sized arteries Abnormal atrioventricular valve morphology Medial calcification of small arteries Posteriorly rotated ears Hyperhidrosis Hyperkeratosis Accelerated atherosclerosis Abnormality of connective tissue Abnormality of the nervous system Redundant neck skin Severe vision loss Severe intrauterine growth retardation Abnormality of the mouth Thickened nuchal skin fold Drusen Mitral stenosis Lack of skin elasticity Abnormal thrombocyte morphology Metamorphopsia Arteriosclerosis Excessive wrinkled skin Pulmonary insufficiency Ectopic calcification Choroidal neovascularization Retinal hemorrhage Intermittent claudication Angioid streaks of the fundus Mandibular prognathia Cough Reduced ejection fraction Orthostatic hypotension Glomerulosclerosis Polydipsia Impaired vibratory sensation Diabetes insipidus Anhidrosis Emphysema Impotence Glycosuria Prominent supraorbital ridges Renal tubular acidosis Wheezing Abnormal EKG Elevated serum creatinine Tubular atrophy Abnormality of the gastrointestinal tract Oligospermia Heat intolerance Abnormality of the hand Tinnitus Prominent nasal bridge Hypohidrosis Stage 5 chronic kidney disease Tachycardia Bulbous nose Thick eyebrow Abdominal distention Urinary incontinence Hypotension Abnormal lung morphology Lymphedema Corneal dystrophy Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Aminoaciduria Hyperlipidemia Ventricular tachycardia Aortic regurgitation Abnormal intestine morphology Atrophy/Degeneration involving the corticospinal tracts



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