Autoimmunity, and Hypoglycemia

Diseases related with Autoimmunity and Hypoglycemia

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


Top matches:

Low 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

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10


Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency|david|immunodeficiency, common variable, with central adrenal insufficiency

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Low match DIABETES MELLITUS, KETOSIS-PRONE; KPD


In addition to classic type 1 (see {222100}) and type 2 (see {125853}) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable (Sobngwi et al., 2002).

Related symptoms:

  • Diabetes mellitus
  • Weight loss
  • Autoimmunity
  • Type II diabetes mellitus
  • Insulin resistance


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIABETES MELLITUS, KETOSIS-PRONE; KPD

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Other less relevant matches:

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 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 IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Low match THYROTOXIC PERIODIC PARALYSIS


Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

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

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 BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Hypoglycemia

Symptoms // Phenotype % cases
Hyperglycemia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Insulin resistance Muscular hypotonia Ketoacidosis Type I diabetes mellitus Seizures Thyroiditis Autoimmune antibody positivity Intrauterine growth retardation Intellectual disability

Rare Symptoms - Less than 30% cases


Generalized tonic-clonic seizures Type II diabetes mellitus Polydipsia Abnormal heart morphology Polyuria Ketosis Beta-cell dysfunction Pancreatic hypoplasia Hypertension Sepsis Arthrogryposis multiplex congenita Hyperkalemia Contractures of the joints of the lower limbs Hypovolemia Abnormality of the upper urinary tract Ketonuria Renal tubular dysfunction Prominent metopic ridge Glycosuria Downturned corners of mouth Neurodevelopmental delay Bilateral ptosis Apraxia Dehydration Generalized myoclonic seizures Coma Motor delay Alopecia totalis Hypoglycemic coma Hyperhidrosis Immunodeficiency Recurrent infections Alopecia Nail dystrophy Recurrent hypoglycemia Decreased antibody level in blood Growth hormone deficiency Inflammatory abnormality of the skin Bronchiectasis Hearing impairment Psoriasiform dermatitis Muscle weakness Hashimoto thyroiditis Autoimmune thrombocytopenia Vitiligo Periodic hypokalemic paresis Increased intramyocellular lipid droplets Shortened PR interval Impaired myocardial contractility Steatorrhea Postprandial hyperglycemia Abnormality of muscle fibers Microalbuminuria Exercise-induced muscle fatigue Neonatal insulin-dependent diabetes mellitus Urinary retention Periodic paralysis Decreased urinary potassium Late-onset proximal muscle weakness Respiratory paralysis Episodic flaccid weakness Second degree atrioventricular block Thyrotoxicosis with diffuse goiter Episodic hypokalemia Peripheral axonal neuropathy Transient hypophosphatemia Retinopathy Thyrotoxicosis with toxic single thyroid nodule Thyrotoxicosis with toxic multinodular goitre Ataxia Intellectual disability, severe Reduced pancreatic beta cells Long philtrum Maternal diabetes Meningioma Delayed gross motor development Cachexia Intracranial hemorrhage Aortic aneurysm Cutis marmorata Multiple lipomas Multiple cafe-au-lait spots Hamartoma Irregular hyperpigmentation Lipoma Capillary hemangioma Arteriovenous malformation Lymphedema Abnormality of the optic nerve Angina pectoris Thyroid carcinoma Intestinal polyposis Visceral angiomatosis Neoplasm of the breast Hamartomatous polyposis Subcutaneous hemorrhage Abdominal wall muscle weakness Uterine neoplasm Abnormal large intestine morphology Narrow palate Telangiectasia Transient neonatal diabetes mellitus Short nose Abnormality of the pancreatic islet cells Elevated hemoglobin A1c Short stature Scoliosis Neoplasm Micrognathia Skeletal muscle atrophy Macrocephaly Frontal bossing Anteverted nares Myopathy Graves disease Tall stature Pectus excavatum Delayed skeletal maturation Macrotia Neurological speech impairment Dolichocephaly Joint hyperflexibility Wide nose Nevus Lymphoma Broad thumb Subcutaneous nodule Abnormality of peripheral nerve conduction Paralysis Heat intolerance Diplopia Alopecia areata Central adrenal insufficiency Trachyonychia Diabetic ketoacidosis Nephropathy Polyphagia Decreased level of 1,5 anhydroglucitol in serum Fatigue Hypotension Recurrent otitis media Recurrent pneumonia Chronic sinusitis Absence seizures Recurrent upper respiratory tract infections Hyponatremia Recurrent sinusitis Recurrent bronchitis Decreased circulating cortisol level Recurrent pharyngitis Decreased circulating ACTH level Adrenocorticotropin deficient adrenal insufficiency Decreased serum insulin-like growth factor 1 Adrenocorticotropic hormone deficiency Adrenal insufficiency Abnormal lymphocyte morphology Nonketotic hypoglycemia Overgrowth Generalized-onset seizure Gynecomastia Large for gestational age Truncal obesity Neonatal hypoglycemia Flushing Hemihypertrophy Hypoketotic hypoglycemia Hypoglycemic seizures Follicular hyperplasia Purpura Increased hepatic glycogen content Enlarged tonsils Increased circulating free fatty acid level Abnormal circulating insulin level Spasticity Gait disturbance Dysphagia Recurrent respiratory infections Asthma Sinusitis Meningitis Severe viral infections Decreased circulating androgen level Hypomagnesemia Palpitations Hyperreflexia Tremor Obesity Hyporeflexia Constipation Proptosis Lower limb muscle weakness Tachycardia Muscle cramps Tetraplegia Muscle stiffness Intractable diarrhea EMG abnormality Goiter Hypokalemia Ophthalmoparesis Myotonia Ventricular fibrillation Mildly elevated creatine phosphokinase Prolonged QT interval Hyperthyroidism Rhabdomyolysis Secretory diarrhea Ileus Abnormal size of pituitary gland Eczema Severe B lymphocytopenia Abnormality of the periungual region Growth delay Anemia Diarrhea Thrombocytopenia Hypothyroidism Arthritis Lymphadenopathy Hemolytic anemia Hepatitis Immune dysregulation Nephrotic syndrome Cardiac arrest Abnormal intestine morphology Eosinophilia Nephritis Erythroderma Abnormality of the coagulation cascade Malnutrition Abnormality of the thyroid gland Autoimmune hemolytic anemia Villous atrophy Neoplasm of the adrenal cortex



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