Autoimmunity, and Hypotension

Diseases related with Autoimmunity and Hypotension

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


Top matches:

Low match HEREDITARY ANGIOEDEMA TYPE 1


Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

HEREDITARY ANGIOEDEMA TYPE 1 Is also known as hae 1|angioneurotic edema, hereditary|hereditary angioneurotic edema type 1|hae-i|hane|c1 esterase inhibitor, deficiency of

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Dysphagia
  • Respiratory distress
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY ANGIOEDEMA TYPE 1

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 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

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Other less relevant matches:

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 AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

Low match DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM


The type of diabetes mellitus called IDDM is a disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of IDDM have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype.The classical phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM Is also known as diabetes mellitus, type i|jod|juvenile-onset diabetes

Related symptoms:

  • Hypertension
  • Diabetes mellitus
  • Autoimmunity
  • Nephropathy
  • Type II diabetes mellitus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

Low match HELLP SYNDROME


Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/EclampsiaSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (OMIM ) on chromosome 2p25, and PEE3 (OMIM ) on chromosome 9p13. PEE4 (OMIM ) is caused by mutation in the STOX1 gene (OMIM ) on chromosome 10q22. PEE5 (OMIM ) is caused by mutation in the CORIN gene (OMIM ) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (OMIM ) on chromosome 1q.

HELLP SYNDROME Is also known as hemolysis-elevated liver enzymes-low platelets syndrome|toxemia of pregnancy|hemolysis, elevated liver enzymes, low platelets in pregnancy|preg1|pee

Related symptoms:

  • Seizures
  • Hypertension
  • Intrauterine growth retardation
  • Edema
  • Renal insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HELLP SYNDROME

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 COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD


COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD Is also known as c4b deficiency

Related symptoms:

  • Hypertension
  • Thrombocytopenia
  • Diabetes mellitus
  • Hepatitis
  • Nephrotic syndrome


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD

Low match COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD


COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD Is also known as c4a deficiency

Related symptoms:

  • Hypertension
  • Diabetes mellitus
  • Hepatitis
  • Nephrotic syndrome
  • Cutaneous photosensitivity


SOURCES: MESH OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD

Top 5 symptoms//phenotypes associated to Autoimmunity and Hypotension

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Hepatitis Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Vomiting Systemic lupus erythematosus Chronic active hepatitis Seizures Abnormality of metabolism/homeostasis

Rare Symptoms - Less than 30% cases


Constipation Orthostatic hypotension Diabetes insipidus Polydipsia Polyuria Dehydration Growth hormone deficiency Failure to thrive Confusion Osteoporosis Central diabetes insipidus Alopecia totalis Alopecia Decreased antibody level in blood Thyroiditis Vitiligo Abnormality of the liver Malabsorption Abnormality of the thyroid gland Antinuclear antibody positivity Type I diabetes mellitus Thrombocytopenia Nephrotic syndrome Meningitis Purpura Complement deficiency Fever Pain Glomerulonephritis Respiratory distress Edema Dyspnea Vasculitis Dermatographic urticaria Nausea Intestinal edema Macular atrophy Leukemia Abnormality of the fingernails Opacification of the corneal stroma Hypopigmented skin patches Cholelithiasis Constriction of peripheral visual field Adrenal insufficiency Primary adrenal insufficiency Metaphyseal dysplasia Hypoparathyroidism Increased circulating cortisol level Chronic sinusitis Adrenal hyperplasia Asplenia Chronic mucocutaneous candidiasis Abnormality of the cerebral vasculature Achalasia Tetany Decreased circulating aldosterone level Alopecia universalis Hypocalcemia Chronic diarrhea Hypergonadotropic hypogonadism Hypothyroidism Gastrointestinal inflammation Increased IgM level Abnormality of the intrahepatic bile duct Abnormal facial shape Cataract Anemia Visual impairment Rod-cone dystrophy Hypogonadism Reduced visual acuity Photophobia Sinusitis Rigidity Pallor Retinopathy Skin rash Hypotrichosis Nausea and vomiting Muscle cramps Otitis media Pigmentary retinopathy Cerebral calcification Hypoplasia of dental enamel Gastritis Chronic hepatitis Keratoconjunctivitis Hemoptysis Cough Chest pain Cyanosis Pulmonary arterial hypertension Ventricular hypertrophy Abnormal lung morphology Tachypnea Clubbing Neonatal respiratory distress Interstitial pulmonary abnormality Hyperventilation Respiratory failure Right ventricular hypertrophy Hypoxemia Foam cells Interstitial pneumonitis Productive cough Alveolar proteinosis Nonproductive cough Desquamative interstitial pneumonitis Abdominal pain Dysphagia Decreased serum complement C4b Apnea Respiratory insufficiency Alopecia areata Hyperglycemia Increased IgA level Female hypogonadism Abnormality of calcium-phosphate metabolism Chronic atrophic gastritis Erythema Salt craving Decreased circulating parathyroid hormone level Patchy atrophy of the retinal pigment epithelium Nephropathy Type II diabetes mellitus Insulin resistance Polyphagia Maternal hypertension Ketosis Ketoacidosis Beta-cell dysfunction Decreased level of 1,5 anhydroglucitol in serum Intrauterine growth retardation Renal insufficiency Elevated hepatic transaminase Proteinuria Cerebral hemorrhage Preeclampsia Eclampsia Onychomycosis Fat malabsorption Recurrent fungal infections Abnormality of the anterior pituitary Chronic lymphatic leukemia Ovarian cyst Abnormality of the larynx Multiple myeloma Enuresis Histiocytosis Lymphoproliferative disorder Pollakisuria Nocturia Hypertonic dehydration Germinoma Angioedema Global developmental delay Upper airway obstruction Axonal degeneration Nail dystrophy Sepsis Stridor Recurrent otitis media Bronchiectasis Diplopia Recurrent pneumonia Absence seizures Inspiratory stridor Syncope Psoriasiform dermatitis Abnormal soft palate morphology Tongue edema Abnormal epiglottis morphology Laryngeal edema Limbal edema Abnormality of salivation Intellectual disability Pharyngeal edema Growth delay Hypertelorism Neoplasm Abnormal respiratory system morphology Short nose Gliosis Long philtrum Cryoglobulinemia Edema of the dorsum of hands Osteopenia Irritability Lethargy Dry skin Facial edema Vertigo Wide nose Coma Recurrent upper respiratory tract infections Hyponatremia Hepatic encephalopathy Osteomalacia Abdominal distention Peripheral neuropathy Cholestasis Hyperpigmentation of the skin Hepatic fibrosis Hypoalbuminemia Elevated alkaline phosphatase Portal hypertension Peripheral axonal neuropathy Celiac disease Keratoconjunctivitis sicca Sleep disturbance Abnormality of lipid metabolism Hepatocellular carcinoma Xerostomia Paresthesia Excessive daytime somnolence Allergy Conjugated hyperbilirubinemia Cholangitis Biliary cirrhosis Cholestatic liver disease Abnormality of the uvula Ascites Hepatic failure Hyperkalemia Adrenocorticotropin deficient adrenal insufficiency Recurrent sinusitis Autoimmune thrombocytopenia Urticaria Recurrent bronchitis Recurrent hypoglycemia Decreased circulating cortisol level Autoimmune antibody positivity Polycystic ovaries Recurrent pharyngitis Decreased circulating ACTH level Hypoglycemic coma Decreased serum insulin-like growth factor 1 Cirrhosis Severe viral infections Abnormal lymphocyte morphology Decreased circulating androgen level Abnormal size of pituitary gland Severe B lymphocytopenia Abnormality of the periungual region Encephalopathy Jaundice Hoarse voice Scarring Pruritus Cutaneous photosensitivity



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