Autoimmunity, and Coma

Diseases related with Autoimmunity and Coma

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


Top matches:

Medium match HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY


Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.

Related symptoms:

  • Seizures
  • Hyperhidrosis
  • Hypoglycemia
  • Autoimmunity
  • Overgrowth


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY

Medium match CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA


Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Is also known as congenital ttp|microangiopathic hemolytic anemia|thrombotic microangiopathy, familial|microangiopathic hemolytic anemia, congenital|congenital adamts-13 deficiency|upshaw factor, deficiency of|uss|thrombotic thrombocytopenic purpura, familial|familial ttp

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

Low match PERMANENT NEONATAL DIABETES MELLITUS


Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

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Other less relevant matches:

Low match DIABETES INSIPIDUS, NEUROHYPOPHYSEAL


Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Low match TRANSIENT NEONATAL DIABETES MELLITUS


Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Low match DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME


Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.

DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME Is also known as david syndrome

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Fatigue
  • Alopecia
  • Nail dystrophy


SOURCES: ORPHANET MENDELIAN

More info about DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME

Low match LYSINURIC PROTEIN INTOLERANCE


Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

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 VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0


Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Low match MEGALOBLASTIC ANEMIA 1


Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.

MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|mga1|enterocyte intrinsic factor receptor, defect of|enterocyte cobalamin malabsorption|igs|imerslund-grasbeck syndrome

Related symptoms:

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALOBLASTIC ANEMIA 1

Top 5 symptoms//phenotypes associated to Autoimmunity and Coma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Renal insufficiency Confusion Vomiting Fatigue Nausea and vomiting Renal tubular dysfunction Weight loss Generalized tonic-clonic seizures Diabetes mellitus Hepatomegaly Jaundice Hearing impairment Proteinuria Motor delay Nausea Arthrogryposis multiplex congenita Increased serum lactate Autoimmune antibody positivity Thrombocytopenia Hyperkalemia Bilateral ptosis Dehydration Generalized myoclonic seizures Osteoporosis Growth delay Lethargy Pancreatitis Diarrhea Respiratory distress Fever Malabsorption Thyroiditis

Rare Symptoms - Less than 30% cases


Hyperammonemia Respiratory insufficiency Hyponatremia Downturned corners of mouth Peripheral axonal neuropathy Vitiligo Abnormal heart morphology Postural instability Neurodevelopmental delay Intellectual disability, severe Feeding difficulties Hemiplegia/hemiparesis Intrauterine growth retardation Acidosis Hyperglycemia Prominent metopic ridge Glycosuria Contractures of the joints of the lower limbs Vertigo Constipation Hypertelorism Short stature Optic atrophy Muscle weakness Growth hormone deficiency Hypovolemia Glomerulopathy Cognitive impairment Dystonia Hypotension Abnormality of the upper urinary tract Psychotic episodes Ketonuria Sepsis Osteopenia Delayed skeletal maturation Apraxia Ataxia Hypertension Paralysis Sensory impairment Abdominal pain Arrhythmia Headache Tremor Pain Hemiparesis Hypoglycemic coma Recurrent hypoglycemia Paresthesia Neonatal hypoglycemia Truncal obesity Generalized-onset seizure Abnormal bleeding Skeletal muscle atrophy Purpura Glomerulonephritis Personality changes Dementia Autoimmune thrombocytopenia Aortic aneurysm Polymicrogyria Ophthalmoparesis Type II diabetes mellitus Abnormality of mitochondrial metabolism Hirsutism Hypercalciuria Hemiplegia Ichthyosis Decreased nerve conduction velocity Nephropathy Cachexia Polyneuropathy Atrioventricular block Chronic kidney disease Growth abnormality Lactic acidosis Bifid scrotum Intestinal obstruction Adrenal insufficiency Congenital cataract Carious teeth Ventricular hypertrophy Delayed puberty Anal atresia Psychosis Hypertrichosis Dysmetria Aplasia/Hypoplasia of the cerebellum Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Status epilepticus Pulmonary arterial hypertension Mask-like facies Easy fatigability Muscle cramps Schizophrenia Hyperkinesis Gingival overgrowth Cerebral visual impairment Pigmentary retinopathy Sudden cardiac death Cerebral calcification Hallucinations Abnormality of retinal pigmentation Anorexia Abnormality of the cardiovascular system Amenorrhea Migraine Left ventricular hypertrophy Memory impairment Decreased body weight Involuntary movements Hip dysplasia Clonus Cardiac arrest Goiter Macular degeneration Specific learning disability Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Exercise intolerance Truncal ataxia Atrial fibrillation Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Abnormal cerebellum morphology Nephrotic syndrome Bilateral sensorineural hearing impairment Type I diabetes mellitus Visual hallucinations Bundle branch block Amaurosis fugax Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Gastroparesis Paronychia Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Spotty hypopigmentation Abnormal mitochondrial morphology Hemianopia Morphological abnormality of the vestibule of the inner ear Vitamin B12 deficiency Poikiloderma Megaloblastic anemia Choreoathetosis Chorea Neutropenia Prominent ear helix Morphological abnormality of the inner ear Bilateral intracranial calcifications Edema of the dorsum of hands Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Abnormality of the renal tubule Ileus Aphasia Abnormality of immune system physiology Xerostomia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Rhabdomyolysis Hypoparathyroidism Hyperthyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Dysphasia Vestibular dysfunction Heart block Mitochondrial myopathy Proximal tubulopathy Cerebral ischemia Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Wolff-Parkinson-White syndrome Progressive external ophthalmoplegia Increased CSF lactate Pruritus Tubulointerstitial nephritis Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Ophthalmoplegia Gait disturbance Dilated cardiomyopathy Central diabetes insipidus Steatorrhea Insulin resistance Germinoma Abnormality of the anterior pituitary Hypertonic dehydration Nocturia Pollakisuria Histiocytosis Transient neonatal diabetes mellitus Enuresis Orthostatic hypotension Diabetes insipidus Polyuria Polydipsia Syncope Gliosis Wide nose Maternal diabetes Abnormality of the pancreatic islet cells Irritability Psoriasiform dermatitis Decreased serum insulin-like growth factor 1 Adrenocorticotropin deficient adrenal insufficiency Decreased circulating ACTH level Recurrent pharyngitis Alopecia totalis Decreased circulating cortisol level Recurrent bronchitis Recurrent sinusitis Recurrent upper respiratory tract infections Elevated hemoglobin A1c Absence seizures Recurrent pneumonia Diplopia Bronchiectasis Recurrent otitis media Decreased antibody level in blood Nail dystrophy Alopecia Dry skin Abnormality of metabolism/homeostasis Abnormal lymphocyte morphology Follicular hyperplasia Hemolytic anemia Skin rash Pallor Abnormality of the kidney Abnormal circulating insulin level Increased circulating free fatty acid level Enlarged tonsils Increased hepatic glycogen content Nonketotic hypoglycemia Hyperbilirubinemia Hypoglycemic seizures Hypoketotic hypoglycemia Hemihypertrophy Flushing Large for gestational age Gynecomastia Overgrowth Hypoglycemia Hematuria Prolonged neonatal jaundice Long philtrum Microangiopathic hemolytic anemia Short nose Neoplasm Reduced pancreatic beta cells Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Microalbuminuria Retinopathy Schistocytosis Increased blood urea nitrogen Acute kidney injury Bloody diarrhea Neonatal hyperbilirubinemia Hemolytic-uremic syndrome Abnormal renal physiology Preeclampsia Elevated serum creatinine Microscopic hematuria Reticulocytosis Severe viral infections Decreased circulating androgen level Neurological speech impairment Encephalopathy Hypogonadism Myoclonus Rod-cone dystrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Hyporeflexia Areflexia Visual loss Depressivity Gait ataxia Cerebral atrophy Kyphosis Hypertonia Abnormality of the dentition Congestive heart failure Cerebellar atrophy Myopathy Blindness Cerebral cortical atrophy Autism Short neck Feeding difficulties in infancy Stroke Attention deficit hyperactivity disorder Nyctalopia Abnormality of the liver Erythema Protruding ear Abnormality of the pinna Developmental regression Mental deterioration Hypothyroidism Apnea Hypertrophic cardiomyopathy Anxiety Myalgia EEG abnormality Photophobia Gastroesophageal reflux Dyspnea Cardiomyopathy Ventriculomegaly Abnormal size of pituitary gland Brain atrophy Abnormality of the coagulation cascade Systemic lupus erythematosus Hyperextensible skin Cutis laxa Leukopenia Aminoaciduria Fine hair Aciduria Recurrent fractures Increased serum ferritin Metabolic acidosis Cirrhosis Stage 5 chronic kidney disease Sparse hair Splenomegaly Generalized hypotonia Abnormality of the periungual region Severe B lymphocytopenia Malnutrition Hemophagocytosis Dysphagia Nystagmus Hyperhidrosis Dysarthria Hyperreflexia Peripheral neuropathy Visual impairment Ptosis Cataract Sensorineural hearing impairment Microcephaly Micronodular cirrhosis Asterixis Argininuria Ornithinuria Protein avoidance Pulmonary hemorrhage Oroticaciduria Alveolar proteinosis Hyperlysinuria Malabsorption of Vitamin B12



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