Arthritis, and Glucose intolerance

Diseases related with Arthritis and Glucose intolerance

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


Top matches:

Medium match CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2


Related symptoms:

  • Hypertension
  • Osteoporosis
  • Diabetes mellitus
  • Stroke
  • Sudden cardiac death


SOURCES: OMIM MESH MENDELIAN

More info about CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2

Medium match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

Medium match RENAL CYSTS AND DIABETES SYNDROME


Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

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Other less relevant matches:

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Low match HYPERPROINSULINEMIA


Insulin (INS ) is produced posttranslationally from its precursor molecule, proinsulin, by site-directed proteolysis in beta-cell granules. Conversion involves cleavage at pairs of basic residues that link both the insulin A and B chains to C-peptide. Human proinsulin conversion has a preferred sequential route, such that cleavage at the B-chain/C-peptide junction occurs first, producing des-31,32 split proinsulin as the major conversion intermediate. Under normal circumstances, proinsulin conversion is largely completed before secretion, and low plasma levels of intact proinsulin and conversion intermediates are found. Structural abnormalities in the proinsulin molecule can impair conversion, leading to the accumulation of proinsulin-like material in the circulation. Such defects show an autosomal dominant mode of inheritance and are the main cause of familial hyperproinsulinemia (summary by Warren-Perry et al., 1997).

Related symptoms:

  • Diabetes mellitus
  • Hypoglycemia
  • Insulin resistance
  • Hyperinsulinemia
  • Hyperglycemia


SOURCES: OMIM MESH MENDELIAN

More info about HYPERPROINSULINEMIA

Low match MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13


MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13 Is also known as mody, type 13

Related symptoms:

  • Diabetes mellitus
  • Type II diabetes mellitus
  • Glucose intolerance
  • Maternal diabetes
  • Maturity-onset diabetes of the young


SOURCES: OMIM MENDELIAN

More info about MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13

Low match MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2


MODY is a form of NIDDM (OMIM ) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see {606391}.In a review of the various forms of MODY, Fajans et al. (2001) stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by Froguel et al. (1991). Gidh-Jain et al. (1993) found that GCK mutations accounted for 56% of MODY families in France.

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 Is also known as mody, glucokinase-related|mody, type 2

Related symptoms:

  • Type II diabetes mellitus
  • Hyperglycemia
  • Glucose intolerance
  • Maternal diabetes
  • Maturity-onset diabetes of the young


SOURCES: OMIM MENDELIAN

More info about MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2

Low match DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM


DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM Is also known as noninsulin-dependent diabetes mellitus|maturity-onset diabetes|diabetes mellitus, type ii|t2d

Related symptoms:

  • Diabetes mellitus
  • Type II diabetes mellitus
  • Insulin resistance
  • Type I diabetes mellitus
  • Hyperinsulinemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

Top 5 symptoms//phenotypes associated to Arthritis and Glucose intolerance

Symptoms // Phenotype % cases
Diabetes mellitus Common - Between 50% and 80% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Type II diabetes mellitus Uncommon - Between 30% and 50% cases
Insulin resistance Uncommon - Between 30% and 50% cases
Maturity-onset diabetes of the young Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Glucose intolerance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatic steatosis Arthralgia Arrhythmia Elevated hepatic transaminase Anemia Pain Hyperglycemia

Rare Symptoms - Less than 30% cases


Impotence Hyperpigmentation of the skin Osteoporosis Cardiomegaly Ataxia Hepatomegaly Short stature Congestive heart failure Splenomegaly Seizures Intellectual disability Recurrent infections Increased serum ferritin Osteopenia Hepatic fibrosis Abdominal pain Gout Hyperinsulinemia Maternal diabetes Hypertriglyceridemia Cardiomyopathy Fatigue Scarring Cirrhosis Basal ganglia calcification Increased antibody level in blood Long fingers Hypermelanotic macule Elevated erythrocyte sedimentation rate Microcytic anemia Rimmed vacuoles Hypoglycemia Growth abnormality Myositis Abnormally large globe Clubbing of fingers Immune dysregulation Generalized lipodystrophy Lipodystrophy Elbow flexion contracture Conjunctivitis Prominent nose Skin rash Erythema Transient neonatal diabetes mellitus Lymphadenopathy Inability to walk Macroglossia Hepatosplenomegaly Camptodactyly of finger Type I diabetes mellitus Thick lower lip vermilion Hypochromic anemia Fasting hyperinsulinemia Bone pain Lymphopenia Flexion contracture of toe Episcleritis Erythema nodosum Neoplasm of the liver Elevated transferrin saturation Osteomalacia Pericarditis Hepatocellular carcinoma Increased reactive oxygen species production Acute hepatic failure Restrictive cardiomyopathy Abnormal joint morphology Testicular atrophy Alcoholism Abnormal glucose tolerance Aceruloplasminemia Microvesicular hepatic steatosis Increased serum iron Constrictive pericarditis Arthropathy Pleural effusion Panniculitis Carcinoma Cholangiocarcinoma Stiff skin Finger swelling Adipose tissue loss Neoplasm Alopecia Hypogonadism Dilated cardiomyopathy Azoospermia Hepatic failure Ascites Amenorrhea Hepatitis Telangiectasia Macrotia Hypogonadotrophic hypogonadism Hypertension Abnormality of endocrine pancreas physiology Hyperhidrosis Stage 5 chronic kidney disease Hypothyroidism Mandibular prognathia Jaundice Proteinuria Abnormality of the kidney Infertility Joint hyperflexibility Hirsutism Hypospadias Nephropathy Renal cyst Renal agenesis Renal hypoplasia Renal dysplasia Nephrolithiasis Horseshoe kidney Cerebral cortical atrophy Renal insufficiency Multicystic kidney dysplasia Respiratory distress Stroke Sudden cardiac death Myocardial infarction Atherosclerosis Hyperlipidemia Hypercholesterolemia Cataract Limitation of joint mobility Abnormality of the dentition Osteoarthritis Joint dislocation Generalized hyperpigmentation Joint swelling Congenital hepatic fibrosis Global developmental delay Hearing impairment Paraparesis Spastic paraparesis Babinski sign Abnormality of alkaline phosphatase activity Absent vas deferens Epididymal cyst Papillary cystadenoma of the epididymis Decreased numbers of nephrons Aplasia/Hypoplasia of the pancreas Abnormality of exocrine pancreas physiology Atretic vas deferens Failure to thrive Renal cortical cysts Muscle weakness Flexion contracture Fever Skeletal muscle atrophy Edema Intellectual disability, mild Thrombocytopenia Multiple glomerular cysts Reduced sperm motility Chronic kidney disease Acute kidney injury Pyloric stenosis Polydipsia Unilateral renal agenesis Hypoplasia of the uterus Glycosuria Glomerulopathy Hyperuricemia Proportionate short stature Renal Fanconi syndrome Renal cell carcinoma Exocrine pancreatic insufficiency Elevated serum creatinine Bicornuate uterus Biliary tract abnormality Ureteropelvic junction obstruction Pancreatic hypoplasia Uterus didelphys Decreased waist to hip ratio



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