Autoimmunity, and Hyperinsulinemia

Diseases related with Autoimmunity and Hyperinsulinemia

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


Top matches:

Low match MULTIPLE ENDOCRINE NEOPLASIA TYPE 4


Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.

MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 Is also known as men4

Related symptoms:

  • Neoplasm
  • Hypertension
  • Diarrhea
  • Diabetes mellitus
  • Hypothyroidism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA TYPE 4

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

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

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Other less relevant matches:

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

Low match BULLOUS PEMPHIGOID


Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.

Related symptoms:

  • Recurrent infections
  • Diabetes mellitus
  • Weight loss
  • Erythema
  • Autoimmunity


SOURCES: ORPHANET MESH MENDELIAN

More info about BULLOUS PEMPHIGOID

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

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 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 Hyperinsulinemia

Symptoms // Phenotype % cases
Diabetes mellitus Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Insulin resistance Uncommon - Between 30% and 50% cases
Type II diabetes mellitus Uncommon - Between 30% and 50% cases
Ketoacidosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Polyphagia Weight loss Hyperglycemia Nephropathy Hyperhidrosis Polydipsia Chronic active hepatitis Hepatitis Polyuria

Rare Symptoms - Less than 30% cases


Intellectual disability Hepatosplenomegaly Hepatic steatosis Seizures Hirsutism Cirrhosis Oligomenorrhea Purpura Elevated hepatic transaminase Complement deficiency Meningitis Systemic lupus erythematosus Beta-cell dysfunction Cognitive impairment Peripheral neuropathy Hepatomegaly Cardiomyopathy Congestive heart failure Acute pancreatitis Dilatation Splenomegaly Gynecomastia Acanthosis nigricans Truncal obesity Epidermal acanthosis Hypertriglyceridemia Nephrotic syndrome Insulin-resistant diabetes mellitus Erythema Lipodystrophy Ketosis Hypothyroidism Type I diabetes mellitus Polycystic ovaries Hyperlipidemia Accelerated skeletal maturation Chorioretinal atrophy Oligospermia Short finger Urinary urgency Pericardial effusion Myocarditis Abnormal retinal morphology Tubular atrophy Acute hepatic failure Agenesis of permanent teeth Alopecia of scalp Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Tubulointerstitial nephritis Pendular nystagmus Gingivitis Recurrent bronchitis Broad foot Posterior subcapsular cataract Poor coordination Hyperventilation Peripheral visual field loss Progressive sensorineural hearing impairment Retinal atrophy Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Hydroureter Increased number of teeth Hyperuricemia Bronchitis Glycosuria Glomerulopathy Subcapsular cataract Neoplasm Pulmonary fibrosis Hepatic fibrosis Hypogonadotrophic hypogonadism Generalized hirsutism Increased body weight Horizontal nystagmus Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Sinusitis Hyperpigmentation of the skin Decreased liver function Absence seizures Abnormality of retinal pigmentation Anorexia Chronic diarrhea Thickened skin Left ventricular hypertrophy Recurrent urinary tract infections Involuntary movements Recurrent otitis media Pulmonary arterial hypertension Cardiomegaly Nephrocalcinosis Macular degeneration Emphysema Chronic otitis media Glucose intolerance Diabetes insipidus Hyperostosis Acne Myocardial fibrosis Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Nephritis Atherosclerosis Portal hypertension Precocious puberty Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Goiter Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Pancreatitis Male hypogonadism Chills Chronic fatigue Increased circulating androgen level Dilatation of the bladder Thickened ears Granular macular appearance Receptive language delay Hyperostosis frontalis interna Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy High-frequency sensorineural hearing impairment Glue ear Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Unilateral breast hypoplasia Recurrent cystitis Renovascular hypertension Eczema Vasculitis Cutaneous photosensitivity Decreased serum complement C4b Thrombocytopenia Decreased level of 1,5 anhydroglucitol in serum Diabetic ketoacidosis Macule Psoriasiform dermatitis Urticaria Abnormal blistering of the skin Widely-spaced incisors Recurrent infections Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Squared iliac bones Albuminuria Chronic obstructive pulmonary disease Abnormal renal physiology Pyelonephritis Poor fine motor coordination Urinary retention Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Disinhibition Urethral stenosis Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Achromatopsia Hepatic encephalopathy Abnormal muscle tone Abnormal spermatogenesis Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Decreased glomerular filtration rate Abnormality of female external genitalia Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Optic disc pallor Stage 5 chronic kidney disease Pigmentary retinopathy Skeletal muscle hypertrophy Generalized lipodystrophy Glioma Bone cyst Abnormality of the ovary Angina pectoris Long foot Abnormality of lipid metabolism Lipoatrophy High pitched voice Large hands Congenital generalized lipodystrophy Clitoral hypertrophy Nephrolithiasis Tall stature Abnormality of the genital system Hypertrichosis Triangular face Hypertrophic cardiomyopathy Umbilical hernia Macrotia Decreased fertility in females Decreased serum leptin Hernia Hemihypertrophy Increased circulating free fatty acid level Enlarged tonsils Increased hepatic glycogen content Follicular hyperplasia Hypoglycemic coma Nonketotic hypoglycemia Hypoglycemic seizures Hypoketotic hypoglycemia Recurrent hypoglycemia Flushing Prominent umbilicus Neonatal hypoglycemia Large for gestational age Generalized-onset seizure Overgrowth Hypoglycemia Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Insulin-resistant diabetes mellitus at puberty Mandibular prognathia Intellectual disability, mild Global developmental delay Esophagitis Peptic ulcer Primary hyperparathyroidism Thyroid carcinoma Parathyroid adenoma Elevated circulating parathyroid hormone level Neoplasm of the endocrine system Abnormality of the endocrine system Hyperinsulinemic hypoglycemia Pituitary adenoma Episodic abdominal pain Parathyroid hyperplasia Increased circulating cortisol level Hashimoto thyroiditis Growth hormone excess Thyroiditis Hyperparathyroidism Hypercalcemia Abnormality of the urinary system Carcinoma Diarrhea Carcinoid tumor Adrenocortical adenoma Abnormality of pancreas physiology Pituitary corticotropic cell adenoma Confetti-like hypopigmented macules Cervix cancer Increased glucagon level Pulmonary carcinoid tumor Insulinoma Angiofibromas Pituitary null cell adenoma Renal angiomyolipoma Parathyroid carcinoma Pituitary growth hormone cell adenoma Thymoma Increased urinary cortisol level Zollinger-Ellison syndrome Thyroid adenoma Neuroendocrine neoplasm Fasting hyperinsulinemia Subcutaneous lipoma Extrahepatic cholestasis Testicular neoplasm Pituitary prolactin cell adenoma Papillary thyroid carcinoma Abnormal circulating insulin level Short stature Cyanosis Abnormality of the liver Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Dilated cardiomyopathy Cough Nyctalopia Retinopathy Scarring Sparse hair Autistic behavior Pulmonic stenosis Pallor Respiratory tract infection Postnatal growth retardation Irritability Abnormality of the kidney Proteinuria Myalgia Conductive hearing impairment Deeply set eye Ophthalmoplegia Carious teeth Jaundice Asthma Specific learning disability Progressive visual loss Decreased testicular size Otitis media Growth hormone deficiency Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Abdominal distention Delayed puberty Ascites Sleep disturbance Retinal dystrophy Hepatic failure Tachycardia Nausea Lymphadenopathy Retinal degeneration Dry skin Infertility Photophobia Pes planus Hearing impairment Visual impairment Abnormality of the dentition Vomiting Blindness Respiratory distress Short neck Respiratory insufficiency Fatigue Optic atrophy Motor delay Delayed speech and language development Dystonia Feeding difficulties Cataract Pain Sensorineural hearing impairment Strabismus Failure to thrive Nystagmus Growth delay Ataxia Scoliosis Behavioral abnormality Kyphosis Kyphoscoliosis Rod-cone dystrophy Gastroesophageal reflux Dyspnea Autism Hyperkeratosis Respiratory failure Polydactyly Abdominal pain Hypogonadism Myoclonus Recurrent respiratory infections Renal insufficiency Pneumonia Alopecia Constipation Hyporeflexia Patent ductus arteriosus Visual loss Clinodactyly Encephalopathy Depressivity Obesity Glomerulonephritis



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