Autoimmunity, and Left ventricular hypertrophy

Diseases related with Autoimmunity and Left ventricular hypertrophy

In the following list you will find some of the most common rare diseases related to Autoimmunity and Left ventricular hypertrophy that can help you solving undiagnosed cases.


Top matches:

Low match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Low match NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY


Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005).A clinically similar disorder characterized by respiratory distress (OMIM ) can affect preterm infants, who show developmental deficiency of surfactant.Acquired PAP (OMIM ) is an autoimmune disorder characterized by the presence of autoantobodies to CSF2 (OMIM ). Genetic Heterogeneity of Pulmonary Surfactant Metabolism DysfunctionSee also SMDP2 (OMIM ), caused by mutation in the SPTPC gene (OMIM ) on 8p21; SMDP3 (OMIM ), caused by mutation in the ABCA3 gene (OMIM ) on 16p13; SMDP4 (OMIM ), caused by mutation in the CSF2RA gene (OMIM ) on Xp22; and SMDP5 (OMIM ), caused by mutation in the CSF2RB gene (OMIM ) on 22q12.

NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY Is also known as neonatal acute respiratory distress due to surfactant protein b deficiency|pulmonary alveolar proteinosis, congenital, 1|interstitial lung disease due to surfactant protein b deficiency|interstitial lung disease, nonspecific, due to surfactant protein b d

Related symptoms:

  • Failure to thrive
  • Pain
  • Hypertension
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY

Low match COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY


Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

Related symptoms:

  • Anemia
  • Atrial septal defect
  • Immunodeficiency
  • Lymphadenopathy
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

Mendelian

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

Learn more

Other less relevant matches:

Low 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

Low match YAO SYNDROME; YAOS


Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

Low match AUTOSOMAL DOMINANT CUTIS LAXA


Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2


Related symptoms:

  • Pain
  • Cardiomyopathy
  • Dyspnea
  • Hypertrophic cardiomyopathy
  • Chest pain


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2

Low match PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME


Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.

PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME Is also known as progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome|progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Dyspnea
  • Hypertrophic cardiomyopathy
  • Chest pain
  • Syncope


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Top 5 symptoms//phenotypes associated to Autoimmunity and Left ventricular hypertrophy

Symptoms // Phenotype % cases
Ventricular hypertrophy Common - Between 50% and 80% cases
Dyspnea Common - Between 50% and 80% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Right ventricular hypertrophy Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Left ventricular hypertrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Chest pain Failure to thrive Weight loss Respiratory distress Hypertrophic cardiomyopathy Fatigue Short stature Abdominal pain Hypertension Respiratory insufficiency Fever Respiratory failure Feeding difficulties Myalgia Pulmonary arterial hypertension Pulmonic stenosis Intellectual disability Renal insufficiency Hypertelorism Growth delay Cognitive impairment Hepatomegaly Sensorineural hearing impairment Short neck Motor delay

Rare Symptoms - Less than 30% cases


Abnormality of the liver Proteinuria Vomiting Nyctalopia Dilated cardiomyopathy Generalized tonic-clonic seizures Photophobia Optic atrophy Blindness Myopathy Peripheral neuropathy Diarrhea Depressivity Constipation Kyphosis Encephalopathy Visual loss Dystonia Hyporeflexia Abnormality of the dentition Ophthalmoplegia Rod-cone dystrophy Jaundice Myoclonus Hypogonadism Diabetes mellitus Congestive heart failure Autism Hypothyroidism Gastroesophageal reflux Elevated serum creatine phosphokinase Involuntary movements Carious teeth Tubulointerstitial nephritis Hepatic fibrosis Hypertriglyceridemia Cardiomegaly Xerostomia Heart block Posterior subcapsular cataract Aortic dissection Retinal pigment epithelial atrophy Progressive sensorineural hearing impairment Elevated hepatic transaminase Deeply set eye Hepatosplenomegaly Emphysema Skin rash Asthma Pericarditis Dilatation Glomerulopathy Prolonged QT interval Delayed puberty Anorexia Peripheral axonal neuropathy Lactic acidosis Hirsutism Nephropathy Specific learning disability Pigmentary retinopathy Type II diabetes mellitus Abnormality of retinal pigmentation Hyperlipidemia Generalized hirsutism Hypogonadotrophic hypogonadism Exercise intolerance Macular degeneration Pancreatitis Goiter Aortic aneurysm Aplasia/Hypoplasia of the cerebellum Visual impairment Nausea Cataract Muscular hypotonia Immunodeficiency Anemia Nonproductive cough Hyperventilation Tachypnea Cyanosis Cough Apnea Systemic lupus erythematosus Inflammatory abnormality of the skin Syncope Hyperpigmentation of the skin Abnormality of the cardiovascular system Hyperkeratosis Patent ductus arteriosus Atrial septal defect Delayed speech and language development Ptosis Scoliosis Lymphadenopathy Full cheeks Global developmental delay Ataxia Muscle weakness Nystagmus Seizures Hearing impairment Hypoglycemia Progressive visual loss Hepatitis Thin upper lip vermilion Optic disc pallor Otitis media Midface retrusion Epidermal acanthosis Intellectual disability, mild Recurrent otitis media Decreased testicular size First degree atrioventricular block Growth hormone deficiency Thickened skin Gastrointestinal hemorrhage Epigastric pain Round face Thin vermilion border Urinary incontinence Vesicoureteral reflux Abdominal distention Ascites Sleep disturbance Hepatic steatosis Retinal dystrophy Recurrent urinary tract infections Insulin resistance Chronic diarrhea Accelerated skeletal maturation Hyperinsulinemia Precocious puberty Abnormality of the femoral head Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Polycystic ovaries Cone/cone-rod dystrophy Hypercholesterolemia Abnormality of the urethra Atherosclerosis Acanthosis nigricans Absence seizures Tachycardia Nephrocalcinosis Increased body weight Lumbar scoliosis Horizontal nystagmus Recurrent pneumonia Left bundle branch block Abnormality of dental color Hypergonadotropic hypogonadism Short toe Gynecomastia Sinusitis Depressed nasal bridge Decreased liver function Hepatic failure Stage 5 chronic kidney disease Cirrhosis Infantile spasms Repeated pneumothoraces Aortic rupture Bowel diverticulosis Uterine prolapse Subglottic stenosis Upper airway obstruction Premature skin wrinkling Raynaud phenomenon Pulmonary artery stenosis Aortic root aneurysm Prematurely aged appearance Abnormal heart valve morphology Urethral stricture Behavioral abnormality Increased muscle fatiguability Heart murmur Stridor Redundant skin Venous thrombosis Cutis laxa Sinus tachycardia Aortic regurgitation Hoarse voice Bronchiectasis Abnormality of the face Mitral regurgitation Coarctation of aorta Strabismus Splenomegaly Portal hypertension Postnatal growth retardation Abnormal chorioretinal morphology Distal amyotrophy Retinal degeneration Dry skin Infertility Hypermetropia Hypotrichosis Retinopathy Scarring Sparse hair Autistic behavior Pallor Respiratory tract infection Irritability Obesity Abnormality of the kidney Conductive hearing impairment Broad nasal tip Neurodevelopmental delay Abnormality of lipid metabolism Pes planus Kyphoscoliosis Polydactyly Hyperhidrosis Recurrent respiratory infections Pneumonia Alopecia Clinodactyly Lipodystrophy Chronic infection Polydipsia Disinhibition Poor fine motor coordination Urinary retention Arteriosclerosis Chronic active hepatitis Hyperostosis frontalis interna Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Receptive language delay Abnormal left ventricle morphology Granular macular appearance Abnormal renal physiology Abnormal muscle tone Chills Endocardial fibroelastosis Thickened ears Abnormal renal morphology Menstrual irregularities Dilatation of the bladder Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Chronic obstructive pulmonary disease Unilateral breast hypoplasia Glue ear Pyelonephritis Acute pancreatitis Chronic fatigue Bull's eye maculopathy Abnormality of the pituitary gland Hypoplastic male external genitalia Melena Hematemesis Hepatic necrosis Chronic hepatic failure Frontal balding Facial hirsutism Increased total bilirubin ST segment depression Vertical nystagmus Multifocal atrial tachycardia Abnormality of the optic disc Abnormal adipose tissue morphology Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Multinodular goiter Abnormality of female external genitalia Increased circulating androgen level Squared iliac bones Hepatic encephalopathy Renovascular hypertension Albuminuria Exudative retinopathy Urethral stenosis Decreased glomerular filtration rate Achromatopsia Joint hyperflexibility Female hypogonadism Urethral obstruction Urinary urgency Agenesis of permanent teeth Short finger Precocious puberty in females EEG with occipital slowing Polyphagia Abnormality of prothrombin Chorioretinal atrophy Abnormality of renal calyx morphology Localized hirsutism Pericardial effusion Abnormal retinal morphology Truncal obesity Hydroureter Bronchitis Pulmonary fibrosis Impaired temperature sensation Vitreous haze Glucose intolerance Diabetes insipidus Hyperglycemia Hyperostosis Acne Impaired vibratory sensation Constriction of peripheral visual field Obsessive-compulsive behavior Chronic otitis media Nephritis Glycosuria Hyperuricemia Recurrent cystitis Broad foot Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Attenuation of retinal blood vessels Pendular nystagmus Gingivitis Ketoacidosis Oligomenorrhea Increased number of teeth Poor coordination Alopecia of scalp Peripheral visual field loss Abnormal spermatogenesis Retinal atrophy Insulin-resistant diabetes mellitus Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Widely-spaced incisors Subcapsular cataract Abnormal retinal artery morphology Polyuria Abnormality of peripheral nerve conduction Umbilical hernia Erythema Confusion Paresthesia Dysmetria Anal atresia Malabsorption Nausea and vomiting Congenital cataract Arthrogryposis multiplex congenita Lethargy Pruritus Neurological speech impairment Stroke Attention deficit hyperactivity disorder Protruding ear Vertigo Abnormality of the pinna Developmental regression Feeding difficulties in infancy Mental deterioration Anxiety EEG abnormality Acidosis Gait ataxia Cerebral cortical atrophy Osteoporosis Dementia Cerebellar hypoplasia Delayed skeletal maturation Ichthyosis Polymicrogyria Arrhythmia Bilateral sensorineural hearing impairment Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Gingival overgrowth Decreased body weight Hypertrichosis Hemiparesis Atrial fibrillation Psychosis Status epilepticus Nephrotic syndrome Generalized-onset seizure Polyneuropathy Cerebral calcification Amenorrhea Hip dysplasia Memory impairment Increased serum lactate Migraine Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Postural instability Coma Areflexia Cerebral atrophy Type I diabetes mellitus Hyperextensible skin Hemoptysis Interstitial pulmonary abnormality Neonatal respiratory distress Clubbing Abnormal lung morphology Abnormality of metabolism/homeostasis Palmoplantar cutis laxa Chylothorax Graves disease Acute lymphoblastic leukemia Curly hair Abnormality of the sternum Pleural effusion Relative macrocephaly Foam cells Low posterior hairline Webbed neck Leukemia Abnormal cardiac septum morphology Polyhydramnios Abnormal heart morphology Edema Ventricular septal defect Downslanted palpebral fissures Macrocephaly Epicanthus Low-set ears Cryptorchidism Hypoxemia Interstitial pneumonitis Headache Verrucae Hypertonia Cerebellar atrophy Ventriculomegaly Dysphagia Gait disturbance Tremor Skeletal muscle atrophy Dysarthria Hyperreflexia Microcephaly Recurrent fungal infections Pulmonary insufficiency Lymphoproliferative disorder Recurrent viral infections Productive cough B-cell lymphoma Chronic mucocutaneous candidiasis Autoimmune hemolytic anemia Increased antibody level in blood Combined immunodeficiency Patent foramen ovale Recurrent bacterial infections Lymphopenia Lymphoma Neutropenia Hemolytic anemia Desquamative interstitial pneumonitis Alveolar proteinosis EMG abnormality Purpura Inguinal hernia Persistence of primary teeth Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Writer's cramp Paronychia Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Spotty hypopigmentation Abnormal mitochondrial morphology Gait imbalance Arthritis Hernia Generalized hypotonia Pleuritis Oral ulcer Episodic abdominal pain Uveitis Episodic fever Keratoconjunctivitis sicca Elevated erythrocyte sedimentation rate Blurred vision Nephrolithiasis Papule Camptodactyly Arthralgia Edema of the dorsum of hands Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Anterior hypopituitarism Reduced consciousness/confusion External ophthalmoplegia Bilateral ptosis Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Hemiplegia Hypercalciuria Aphasia Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes Bundle branch block Vestibular dysfunction Cerebral ischemia Abnormality of visual evoked potentials Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Renal tubular dysfunction Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Vitiligo Neonatal hypoglycemia Hashimoto thyroiditis Dysphasia Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Vertebral fusion Multiple lipomas Visual field defect Hyperkalemia Increased hepatic glycogen content



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Thick eyebrow, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more