Autoimmunity, and Confusion

Diseases related with Autoimmunity and Confusion

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


Top matches:

Medium 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

Medium match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

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

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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 SNEDDON SYNDROME


Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Low match PRIMARY BILIARY CHOLANGITIS


Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.

PRIMARY BILIARY CHOLANGITIS Is also known as pbc|hanot syndrome|primary biliary cirrhosis

Related symptoms:

  • Hypertension
  • Fatigue
  • Diarrhea
  • Encephalopathy
  • Osteoporosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY BILIARY CHOLANGITIS

Low match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

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 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 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

Top 5 symptoms//phenotypes associated to Autoimmunity and Confusion

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Paresthesia Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Headache Irritability Growth hormone deficiency Hemiparesis Scarring Osteoporosis Memory impairment Dyspnea Weight loss Cataract Fever Vertigo Vomiting Diarrhea Depressivity Tremor Intellectual disability Paralysis Malabsorption Muscle weakness Neoplasm Nystagmus Chest pain Autoimmune antibody positivity

Rare Symptoms - Less than 30% cases


Pseudohypoparathyroidism Basal ganglia calcification Oligomenorrhea Hyperphosphatemia Short 4th metacarpal Hypocalcemic seizures Prolactin deficiency Calcinosis Laryngeal dystonia Elevated circulating parathyroid hormone level Diabetes mellitus Short 5th metacarpal Long philtrum Constrictive median neuropathy Short nose Anemia Abdominal symptom Myoclonic spasms Osteoma cutis Vasculitis Myocardial infarction Migraine Stroke Developmental regression Myalgia Behavioral abnormality Motor delay Pituitary resistance to thyroid hormone Cerebral ischemia Choroid plexus calcification Hypocalcemic tetany Low urinary cyclic AMP response to PTH administration Broad distal phalanx of the thumb Short fifth metatarsal Short 3rd metacarpal Orthostatic hypotension Prolonged QT interval Polyuria Polydipsia Dehydration Ectopic ossification Polyphagia Short metacarpal Short metatarsal Nausea and vomiting Proteinuria Visual impairment Hyperreflexia Visual loss Constipation Short stature Depressed nasal bridge Keratoconjunctivitis sicca Short neck Renal insufficiency Obesity Hyporeflexia Abdominal pain Jaundice Brachydactyly Anxiety Personality changes Conjunctivitis Hypocalcemia Hypergonadotropic hypogonadism Hypoplasia of dental enamel Cerebral calcification Increased bone mineral density Round face Coma Full cheeks Muscle cramps Dementia Delayed eruption of teeth Mild global developmental delay Aspiration pneumonia Splenomegaly Ketoacidosis Dilatation Gait disturbance Prominent metopic ridge Hypogonadism Alopecia Glaucoma Blindness Ataxia Limb joint contracture Pancreatic hypoplasia Abnormality of the skeletal system Beta-cell dysfunction Hypothyroidism Transient neonatal diabetes mellitus Thickened ears Elevated hemoglobin A1c Clinodactyly of the 4th finger Cognitive impairment Arthralgia Reduced visual acuity Cranial nerve paralysis Photophobia Chorioretinitis Iritis Increased inflammatory response Iridocyclitis Posterior uveitis Anterior uveitis Optic neuritis Immunologic hypersensitivity Orchitis Erythema nodosum Thrombophlebitis Pleuritis Oral ulcer Endocarditis Alopecia areata Stomatitis Retrobulbar optic neuritis Superficial thrombophlebitis Arterial thrombosis Reduced bone mineral density Hyperostosis frontalis interna Elevated calcitonin Abnormal platelet function Band keratopathy Spinal cord compression Thickened calvaria Involuntary movements Panuveitis Choreoathetosis Sensorineural hearing impairment Strabismus Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Recurrent aphthous stomatitis Abnormal myocardium morphology Arthritis Abnormal blistering of the skin Aortic regurgitation Pancreatitis Meningitis Anorexia Subcutaneous nodule Mitral regurgitation Gastrointestinal hemorrhage Venous thrombosis Lymphadenopathy Papule Cough Abnormal pyramidal sign Retinopathy Joint stiffness Erythema Abnormality of the ear Increased intracranial pressure Myositis Hemoptysis Raynaud phenomenon Gangrene Pulmonary infiltrates Pustule Uveitis Aseptic necrosis Pulmonary embolism Pericarditis Encephalitis Glomerulopathy Blurred vision Epiphora Inflammation of the large intestine Acne Rheumatoid arthritis Pleural effusion Abnormality of the immune system Recurrent fungal infections Hyperglycemia Schistocytosis Dry skin Lethargy Osteopenia Abnormality of metabolism/homeostasis Hypertelorism Growth delay Microangiopathic hemolytic anemia Gliosis Increased blood urea nitrogen Bloody diarrhea Neonatal hyperbilirubinemia Hemolytic-uremic syndrome Abnormal renal physiology Preeclampsia Elevated serum creatinine Wide nose Syncope Reticulocytosis Germinoma Systemic lupus erythematosus Chorea Nephropathy Mental deterioration Facial palsy Dysarthria Abnormality of the anterior pituitary Hypotension Hypertonic dehydration Nocturia Pollakisuria Central diabetes insipidus Histiocytosis Enuresis Diabetes insipidus Microscopic hematuria Autoimmune thrombocytopenia Intracranial hemorrhage Difficulty walking Emotional lability Incoordination Hyperkinesis Muscle stiffness Diplopia Urinary incontinence Spasticity CNS demyelination Hearing impairment Malabsorption of Vitamin B12 Vitamin B12 deficiency Poikiloderma Megaloblastic anemia Thyroiditis Sensory impairment Brain neoplasm Urinary hesitancy Acute kidney injury Abnormal bleeding Prolonged neonatal jaundice Hyperkalemia Glomerulonephritis Purpura Hyperbilirubinemia Increased serum lactate Hematuria Respiratory distress Hemolytic anemia Nausea Skin rash Pallor Abnormality of the kidney Arrhythmia Thrombocytopenia Hemiplegia Heart murmur Radial deviation of finger Increased IgA level Global developmental delay Abnormality of the intrahepatic bile duct Dermatographic urticaria Increased IgM level Gastrointestinal inflammation Onychomycosis Hepatic encephalopathy Failure to thrive Fat malabsorption Cholestatic liver disease Biliary cirrhosis Cholangitis Conjugated hyperbilirubinemia Allergy Excessive daytime somnolence Generalized hypotonia Ptosis Xerostomia Downturned corners of mouth Bilateral ptosis Failure to thrive in infancy Type I diabetes mellitus Aspiration Progressive neurologic deterioration Hypsarrhythmia Small for gestational age Flexion contracture Muscular hypotonia of the trunk Abnormality of the nervous system Pneumonia Clinodactyly Anteverted nares Intrauterine growth retardation Peripheral neuropathy Antinuclear antibody positivity Hepatocellular carcinoma Cutis marmorata Facial paralysis Antiphospholipid antibody positivity Vascular skin abnormality Amaurosis fugax Thromboembolic stroke Arterial stenosis Hemianopia Peripheral arterial stenosis Encephalopathy Arteriovenous malformation Acrocyanosis Transient ischemic attack Thrombocytosis Atrophic scars Visual field defect Aphasia Lupus anticoagulant Abnormality of the liver Abnormality of lipid metabolism Hepatic fibrosis Osteomalacia Celiac disease Abnormality of the thyroid gland Portal hypertension Elevated alkaline phosphatase Hypoalbuminemia Hyperpigmentation of the skin Pruritus Cholestasis Hepatitis Abdominal distention Ascites Sleep disturbance Hepatic failure Cirrhosis Broad 1st metacarpal



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