Autoimmunity, and Myoclonus

Diseases related with Autoimmunity and Myoclonus

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


Top matches:

Low match MYOSTATIN-RELATED MUSCLE HYPERTROPHY


general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells.

Related symptoms:

  • Myoclonus
  • Skeletal muscle hypertrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOSTATIN-RELATED MUSCLE HYPERTROPHY

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1B


Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

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Other less relevant matches:

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1C


Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).

PSEUDOHYPOPARATHYROIDISM TYPE 1C Is also known as php ic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1C

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1A


Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

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 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match FAMILIAL GESTATIONAL HYPERTHYROIDISM


Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see {118860}) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (OMIM ), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997).

Related symptoms:

  • Motor delay
  • Tremor
  • Vomiting
  • Diarrhea
  • Hyperhidrosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL GESTATIONAL HYPERTHYROIDISM

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Myoclonus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Autoimmunity and Myoclonus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dyspnea Cataract Short neck Depressivity Nystagmus Anxiety Irritability Round face Growth hormone deficiency Obesity Prolonged QT interval Autoimmune antibody positivity Muscle cramps Paresthesia Tremor Ataxia Global developmental delay Brachydactyly Sensorineural hearing impairment Hyperphosphatemia Laryngeal dystonia Dystonia Elevated circulating parathyroid hormone level Calcinosis Hypoplasia of dental enamel Conjunctivitis Hypocalcemia Hearing impairment Short metacarpal Chest pain Full cheeks Delayed eruption of teeth Pseudohypoparathyroidism Hypocalcemic seizures Myoclonic spasms Hypergonadotropic hypogonadism Involuntary movements Hypertension Motor delay Oligomenorrhea Basal ganglia calcification Polyphagia Cerebral calcification Hypocalcemic tetany Confusion Hypothyroidism Hypogonadism Vomiting Pituitary resistance to thyroid hormone Low urinary cyclic AMP response to PTH administration Abdominal symptom Failure to thrive Increased bone mineral density Goiter Abnormality of the dentition Nausea Gastroesophageal reflux Depressed nasal bridge Weight loss Renal insufficiency

Rare Symptoms - Less than 30% cases


Carious teeth Nausea and vomiting Delayed puberty Fatigue Progressive sensorineural hearing impairment Cardiomyopathy Ophthalmoplegia Hirsutism Nephropathy Respiratory distress Respiratory insufficiency Peripheral neuropathy Optic atrophy Hepatomegaly Tubulointerstitial nephritis Aplasia/Hypoplasia of the cerebellum Visual impairment Feeding difficulties Pain Growth delay Pancreatitis Specific learning disability Retinal pigment epithelial atrophy Mental deterioration Cerebellar atrophy Blindness Generalized tonic-clonic seizures Glomerulopathy Kyphosis Hyperostosis frontalis interna Visual loss Anorexia Left ventricular hypertrophy Generalized hirsutism Pulmonary arterial hypertension Posterior subcapsular cataract Type II diabetes mellitus Constipation Rod-cone dystrophy Encephalopathy Hypogonadotrophic hypogonadism Diabetes mellitus Hyperthyroidism Abdominal pain Autism Jaundice Photophobia Myalgia Congestive heart failure Proteinuria Abnormality of the liver Nyctalopia Diarrhea Dilated cardiomyopathy Abnormality of retinal pigmentation Pigmentary retinopathy Macular degeneration Abnormality of the skeletal system Abnormal facial shape Conductive hearing impairment Tachycardia Reduced bone mineral density Atopic dermatitis Sleep disturbance Respiratory tract infection Erythema Osteoporosis Short metatarsal Short 4th metacarpal Constrictive median neuropathy Dysarthria Prolactin deficiency Anemia Short 5th metacarpal Ectopic ossification Osteoma cutis Sensory impairment Asthma Hyperhidrosis Scoliosis Strabismus Short 3rd metacarpal Recurrent respiratory infections Choroid plexus calcification Short fifth metatarsal Broad distal phalanx of the thumb Short toe Recurrent pneumonia Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Hyperlipidemia Agitation Acanthosis nigricans Atherosclerosis Accelerated skeletal maturation Horizontal nystagmus Polycystic ovaries Increased body weight Sinusitis Nephrocalcinosis Spontaneous abortion Gynecomastia Absence seizures Cough Abnormality of the hand Impaired vibratory sensation Hydroureter Pulmonary fibrosis Emphysema Polyuria Glucose intolerance Diabetes insipidus Hyperglycemia Hyperostosis Acne Hyperactivity Constriction of peripheral visual field Cholelithiasis Obsessive-compulsive behavior Chronic otitis media Nephritis Polydipsia Portal hypertension Graves disease Proptosis Lipodystrophy Hyperinsulinemia Precocious puberty Elevated alkaline phosphatase Hand tremor Delayed speech and language development Thyroid hyperplasia Retinal dystrophy Urinary incontinence Kyphoscoliosis Vesicoureteral reflux Abdominal distention Pes planus Hepatosplenomegaly Ascites Deeply set eye Elevated hepatic transaminase Abnormality of the kidney Postnatal growth retardation Hepatic steatosis Hepatic failure Otitis media Cirrhosis Stage 5 chronic kidney disease Lymphadenopathy Retinal degeneration Dry skin Infertility Pulmonic stenosis Pallor Autistic behavior Sparse hair Scarring Retinopathy Gastrointestinal hemorrhage Hyperkeratosis Thyrotoxicosis with diffuse goiter Epidermal acanthosis Hyperpigmentation of the skin Hyperemesis gravidarum Hepatic fibrosis Decreased liver function Insulin resistance Activating thyroid-stimulating hormone receptor defect Hypotrichosis Chronic diarrhea Thickened skin Recurrent urinary tract infections Recurrent otitis media Hypertriglyceridemia Behavioral abnormality Respiratory failure Splenomegaly Cardiomegaly Dilatation Clinodactyly Optic disc pallor Patent ductus arteriosus Hepatitis Cyanosis Alopecia Pneumonia Progressive visual loss Polydactyly Decreased testicular size Hypermetropia Abnormal renal physiology Urinary urgency Abnormality of the urethra Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Chronic infection Abnormality of the pituitary gland Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Urethral obstruction Hypoplastic male external genitalia Urethral stenosis Thickened ears Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Dilatation of the bladder Granular macular appearance Hepatic necrosis Receptive language delay Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic encephalopathy Achromatopsia Truncal obesity Severe sensorineural hearing impairment Attenuation of retinal blood vessels Pendular nystagmus Gingivitis Ketoacidosis Broad foot Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Insulin-resistant diabetes mellitus Hypoventilation Autoimmune thrombocytopenia Elevated serum creatinine Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glycosuria Agenesis of permanent teeth Short finger Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Right ventricular hypertrophy Acute hepatic failure Acute pancreatitis Abnormal renal morphology Chills Pyelonephritis Poor fine motor coordination Urinary retention Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Morphological abnormality of the inner ear Disinhibition Endocardial fibroelastosis Menstrual irregularities Recurrent bronchitis Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Tubular atrophy Prominent ear helix Thyroiditis Morphological abnormality of the vestibule of the inner ear Attention deficit hyperactivity disorder Vertigo Ichthyosis Dysmetria Anal atresia Malabsorption Congenital cataract Arthrogryposis multiplex congenita Lethargy Pruritus Neurological speech impairment Stroke Protruding ear Lactic acidosis Abnormality of the pinna Developmental regression Feeding difficulties in infancy Apnea Hypertrophic cardiomyopathy EEG abnormality Acidosis Gait ataxia Cerebral cortical atrophy Dementia Cerebellar hypoplasia Peripheral axonal neuropathy Polymicrogyria Elevated serum creatine phosphokinase Nephrotic syndrome Clonus Cerebral visual impairment Hallucinations Gingival overgrowth Decreased body weight Hypertrichosis Hemiparesis Atrial fibrillation Ventricular hypertrophy Psychosis Status epilepticus Bilateral sensorineural hearing impairment Polyneuropathy Generalized-onset seizure Abnormality of the cardiovascular system Amenorrhea Hip dysplasia Memory impairment Increased serum lactate Migraine Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Postural instability Coma Delayed skeletal maturation Areflexia Truncal ataxia Narrow palpebral fissure Dyskinesia Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Combined immunodeficiency Glomerulonephritis Recurrent skin infections Leukopenia Vasculitis Tetany Lymphopenia Bronchiectasis Inflammatory abnormality of the skin Eczema Lymphoma Neutropenia Hemolytic anemia Abnormality of the nervous system Recurrent infections Immunodeficiency High palate Generalized hypotonia Hyperparathyroidism Ectopic calcification Arrhythmia Muscular hypotonia Cerebral atrophy Headache Hypertonia Myopathy Ventriculomegaly Dysphagia Gait disturbance Skeletal muscle atrophy Fever Hyperreflexia Ptosis Muscle weakness Diaphyseal sclerosis Hypertelorism Microcephaly Abnormality of movement Broad 1st metacarpal Elevated calcitonin Abnormal platelet function Band keratopathy Spinal cord compression Thickened calvaria Choreoathetosis Cortical subperiosteal resorption of humeral metaphyses Increased bone density with cystic changes Cardiac arrest EMG abnormality Bilateral intracranial calcifications Seborrheic dermatitis Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Speech apraxia Left ventricular failure Stroke-like episode Writer's cramp Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Muscle fiber atrophy Persistence of primary teeth Transient ischemic attack Paronychia Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Spotty hypopigmentation Leber optic atrophy 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 Delusions Progressive external ophthalmoplegia Type I diabetes mellitus Atrioventricular block Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Chronic kidney disease Mask-like facies Growth abnormality Easy fatigability Hyperkinesis Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Purpura Exercise intolerance Bifid scrotum Hemiplegia/hemiparesis Mitochondrial myopathy Abnormality of immune system physiology Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Skeletal muscle hypertrophy Focal segmental glomerulosclerosis Rhabdomyolysis Vertebral fusion Multiple lipomas Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Abnormality of the femoral head



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