Immunodeficiency, and Hyperinsulinemia

Diseases related with Immunodeficiency and Hyperinsulinemia

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

Top matches:

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

Related symptoms:

  • Immunodeficiency
  • Diabetes mellitus
  • Decreased antibody level in blood
  • Psoriasiform dermatitis
  • Colitis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14

IMMUNODEFICIENCY 43; IMD43 Is also known as beta-2-microglobulin deficiency|b2m deficiency|hypoproteinemia, hypercatabolic

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Diabetes mellitus
  • Proteinuria
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY 43; IMD43

Other less relevant matches:

The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.

PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY Is also known as natural killer cell deficiency, familial isolated|natural killer cell and glucocorticoid deficiency with dna repair defect|nkgcd|primary immunodeficiency due to mcm4 deficiency|nkcd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY Is also known as cd25 deficiency|interleukin 2 receptor, alpha, deficiency of|interleukin-2 receptor alpha chain deficiency|il2ra deficiency

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Respiratory insufficiency
  • Diarrhea
  • Splenomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY

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

Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Hyperinsulinemia

Symptoms // Phenotype % cases
Diabetes mellitus Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Inflammatory abnormality of the skin Uncommon - Between 30% and 50% cases
Autoimmune hemolytic anemia Uncommon - Between 30% and 50% cases
Type I diabetes mellitus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Autoimmunity Lymphadenopathy Recurrent respiratory infections Hepatomegaly Growth delay Short stature Anemia Hepatosplenomegaly Psoriasiform dermatitis Abnormal intestine morphology Failure to thrive Hypothyroidism Intrauterine growth retardation Splenomegaly Hypertriglyceridemia Myopathy Hemolytic anemia Eczema

Rare Symptoms - Less than 30% cases

Nephrotic syndrome Sepsis Intellectual disability Proteinuria Colitis Decreased antibody level in blood Arthralgia IgA deficiency Glomerulopathy Lipoatrophy Hepatitis Global developmental delay Arthritis Thrombocytopenia Hypoglycemia Recurrent viral infections Immune dysregulation Villous atrophy Polycystic ovaries Atopic dermatitis Thyroiditis Abnormal lung morphology Respiratory tract infection Pneumonia Abnormality of lipid metabolism Alopecia Lipodystrophy Diarrhea Thickened skin Hepatic steatosis Muscle weakness Nephropathy Hirsutism Insulin resistance Cardiomyopathy Generalized hirsutism Ventricular hypertrophy Elevated hepatic transaminase Delayed skeletal maturation Omphalocele Hearing impairment Seizures Decrease in T cell count Bronchiolitis Abnormality of the ductus choledochus Recurrent abscess formation Recurrent fungal infections Granulocytopenia Chronic lung disease Chronic hemolytic anemia Peritoneal abscess Congenital cystic adenomatoid malformation of the lung Hypertension Gingivitis Esophagitis Microscopic hematuria Progressive loss of facial adipose tissue Loss of truncal subcutaneous adipose tissue Decreased serum complement C3 Membranoproliferative glomerulonephritis Lymphocytosis Progeroid facial appearance Chronic diarrhea Recurrent bacterial infections Antinuclear antibody positivity Increased antibody level in blood Glomerulonephritis Premature ovarian insufficiency Iron deficiency anemia Hypertrichosis Hematuria Jejunoileal ulceration Gastrointestinal atresia Nephritis Cardiac arrest Recurrent ear infections Lymphopenia Interstitial pulmonary abnormality Respiratory insufficiency Scleroderma Severe combined immunodeficiency Autoimmune thrombocytopenia Alopecia of scalp Hashimoto thyroiditis Delayed puberty Primary hypothyroidism Interstitial pneumonitis Ventricular septal defect Polyhydramnios Sparse hair Nail dystrophy Absent eyebrow Abdominal distention Neutropenia Leukemia Eosinophilia Intestinal atresia Intestinal malrotation Erythroderma Hyperglycemia Rectal abscess Bloody diarrhea Ectopic calcification Abnormality of the coagulation cascade Hypoplasia of the thymus Abnormality of the dentition Malnutrition Abnormality of the thyroid gland Ketoacidosis Ileus Pancreatic hypoplasia Intractable diarrhea Secretory diarrhea Pain Celiac disease Midface retrusion Increased hepatic glycogen content Precocious puberty Bradycardia Abnormality of the hair Muscle stiffness Accelerated skeletal maturation Pancreatitis Acanthosis nigricans Atherosclerosis Pyloric stenosis Prominent supraorbital ridges Myocardial infarction Large hands Skeletal muscle hypertrophy Spinal rigidity Secondary amenorrhea Growth hormone excess Progressive proximal muscle weakness Oligomenorrhea Broad foot Prominent superficial veins Palpitations Atrial fibrillation Bone cyst Mandibular prognathia Scoliosis Flexion contracture Peripheral neuropathy Ventriculomegaly Congestive heart failure Renal insufficiency Arrhythmia Osteoporosis Hyperhidrosis Osteopenia Pulmonary arterial hypertension Myalgia Hypertrophic cardiomyopathy Hyperlordosis Abnormality of the foot Abnormality of skin pigmentation Cirrhosis Hepatic failure Recurrent fractures Growth hormone deficiency Epidermal acanthosis Exercise-induced myalgia Arterial stenosis Sinus tachycardia Lactic acidosis Stomatitis Muscular hypotonia Depressed nasal bridge Motor delay Intellectual disability, mild Elevated serum creatine phosphokinase Thin upper lip vermilion Deeply set eye Peripheral axonal neuropathy Thin vermilion border Chromosome breakage Distal amyotrophy Broad nasal tip Full cheeks Cardiomegaly Left ventricular hypertrophy Hepatic fibrosis Exercise intolerance Hyperlipidemia Neurodevelopmental delay Increased muscle fatiguability Lymphoproliferative disorder Adrenal insufficiency Generalized lipodystrophy Subcutaneous nodule Prolonged QTc interval Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Atlantoaxial dislocation Abnormal oral cavity morphology Abnormal levels of creatine kinase in blood Congenital generalized lipodystrophy Abnormality of skeletal muscle fiber size Recurrent sinopulmonary infections Bronchiectasis Small for gestational age Hypoalbuminemia Hypoplasia of the ulna IgG deficiency Radial bowing Hypoproteinemia Microcephaly Neoplasm Clinodactyly Respiratory failure Postnatal growth retardation Loss of subcutaneous adipose tissue from upper limbs


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