Autoimmunity, and Acidosis

Diseases related with Autoimmunity and Acidosis

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


Top matches:

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

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Other less relevant matches:

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 COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH


Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Low 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

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 FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Low match LYSINURIC PROTEIN INTOLERANCE


Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Top 5 symptoms//phenotypes associated to Autoimmunity and Acidosis

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Seizures 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 Acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Vomiting Diarrhea Hyperglycemia Type I diabetes mellitus Leukopenia Fever Renal insufficiency Hemolytic anemia Arthritis Nausea and vomiting Nausea Failure to thrive Hypertension Polyuria Polydipsia Beta-cell dysfunction

Rare Symptoms - Less than 30% cases


Abnormal bleeding Hemolytic-uremic syndrome Muscle weakness Generalized hypotonia Ketosis Confusion Pallor Systemic lupus erythematosus Metabolic acidosis Type II diabetes mellitus Increased serum ferritin Antinuclear antibody positivity Hyperkalemia Abnormality of the kidney Glomerulonephritis Purpura Intellectual disability Increased serum lactate Insulin resistance Headache Arrhythmia Skin rash Abdominal pain Jaundice Proteinuria Pain Pneumonia Pancreatitis Lymphadenopathy Coma Abnormality of the coagulation cascade Malnutrition Nephrotic syndrome Stage 5 chronic kidney disease Splenomegaly Malabsorption Nephropathy Hepatomegaly Recurrent infections Immunodeficiency Intrauterine growth retardation Pancreatic hypoplasia Thickened ears Arthralgia Peritonitis Anemia of inadequate production Elevated hemoglobin A1c Hepatosplenomegaly Myalgia Erythema Oral leukoplakia Constipation Gout Acute hepatic failure Chest pain Vasculitis Transient neonatal diabetes mellitus Meningitis Chronic kidney disease Clinodactyly of the 4th finger Osteoarthritis Myocardial infarction Asthma Rheumatoid arthritis Edema of the lower limbs Intestinal obstruction Inflammation of the large intestine Leukocytosis Elevated erythrocyte sedimentation rate Amyloidosis Pericarditis Episodic fever Ascites Nephrocalcinosis Orchitis Decreased circulating aldosterone level Micronodular cirrhosis Aciduria Fine hair Aminoaciduria Cutis laxa Hyperammonemia Hyperextensible skin Truncal obesity Glomerulopathy Hemophagocytosis Hyperlysinuria Postural instability Psychotic episodes Alveolar proteinosis Oroticaciduria Pulmonary hemorrhage Protein avoidance Ornithinuria Argininuria Asterixis Leukemia Brain atrophy Recurrent fractures Synovitis Autoimmune antibody positivity Stiff neck Pleuritis Congenital hypoplastic anemia Erysipelas Gastrointestinal infarctions Renal amyloidosis Azotemia Serositis Recurrent meningitis Short stature Cirrhosis Muscular hypotonia Cognitive impairment Feeding difficulties Skeletal muscle atrophy Respiratory insufficiency Intellectual disability, severe Delayed skeletal maturation Osteoporosis Osteopenia Sparse hair Limb joint contracture Microangiopathic hemolytic anemia Mild global developmental delay Combined immunodeficiency Sensorineural hearing impairment Intellectual disability, mild Retinopathy Decreased antibody level in blood Bilateral sensorineural hearing impairment Pancytopenia Recurrent urinary tract infections Lymphopenia Macrocytic anemia Secretory diarrhea Thrombocytosis Severe combined immunodeficiency Megaloblastic anemia Anisocytosis Folate deficiency Asthenia Septic arthritis Decreased methylcobalamin Hearing impairment Intractable diarrhea Tremor Inflammatory abnormality of the skin Diabetic ketoacidosis Polyphagia Decreased level of 1,5 anhydroglucitol in serum Growth delay Hypothyroidism Sepsis Eczema Hepatitis Cardiac arrest Ileus Abnormal intestine morphology Eosinophilia Nephritis Erythroderma Abnormality of the thyroid gland Autoimmune hemolytic anemia Thyroiditis Villous atrophy Immune dysregulation Thiamine-responsive megaloblastic anemia Fatigue Aspiration pneumonia Dehydration Anteverted nares Short nose Long philtrum Clinodactyly Abnormality of the nervous system Muscular hypotonia of the trunk Small for gestational age Downturned corners of mouth Hypsarrhythmia Motor delay Progressive neurologic deterioration Aspiration Failure to thrive in infancy Bilateral ptosis Radial deviation of finger Abnormality of the ear Abnormality of the immune system Prominent metopic ridge Peripheral neuropathy Flexion contracture Respiratory distress Reticulocytosis Paralysis Hematuria Hemiparesis Hyperbilirubinemia Personality changes Prolonged neonatal jaundice Acute kidney injury Autoimmune thrombocytopenia Microscopic hematuria Ptosis Elevated serum creatinine Preeclampsia Abnormal renal physiology Neonatal hyperbilirubinemia Bloody diarrhea Increased blood urea nitrogen Weight loss Schistocytosis Global developmental delay Abnormal erythrocyte morphology



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