Edema, and Insulin resistance

Diseases related with Edema and Insulin resistance

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

Top matches:

Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.

FOLLICULAR LYMPHOMA Is also known as oncogene b-cell leukemia 2

Related symptoms:

  • Neoplasm
  • Fever
  • Fatigue
  • Diarrhea
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOLLICULAR LYMPHOMA

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month 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 and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Genetic Heterogeneity of Transient Neonatal DiabetesTNDM2 (OMIM ) is caused by mutation in the ABCC8 gene (OMIM ) on chromosome 11p15.1. TNDM3 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), also located on 11p15.1.

DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1|dmtn|tndm

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Intrauterine growth retardation
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY Is also known as cah due to 3-beta-hydroxysteroid dehydrogenase deficiency

Related symptoms:

  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Hypospadias
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY

Other less relevant matches:

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

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

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

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

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 CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Top 5 symptoms//phenotypes associated to Edema and Insulin resistance

Symptoms // Phenotype % cases
Dehydration Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Hyperglycemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Insulin resistance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Neoplasm Generalized myoclonic seizures Downturned corners of mouth Transient neonatal diabetes mellitus Prominent metopic ridge Muscular hypotonia Vomiting Global developmental delay Intellectual disability Hepatomegaly Pain Bilateral ptosis Hypovolemia Weight loss Seizures Autoimmune antibody positivity Glucose intolerance

Rare Symptoms - Less than 30% cases

Respiratory distress Testicular atrophy Azoospermia Cardiomegaly Cirrhosis Abnormality of the liver Carcinoma Renal tubular dysfunction Elevated hepatic transaminase Peripheral neuropathy Hypogonadism Arrhythmia Recurrent infections Dilatation Respiratory failure Ataxia Abdominal pain Ptosis Hearing impairment Abnormal glucose tolerance Glycosuria Neurodevelopmental delay Abnormality of the upper urinary tract Apraxia Pancreatic hypoplasia Contractures of the joints of the lower limbs Steatorrhea Ketonuria Arthrogryposis multiplex congenita Elevated hemoglobin A1c Generalized tonic-clonic seizures Abnormal heart morphology Intellectual disability, severe Generalized hypotonia Muscle weakness Coma Neonatal insulin-dependent diabetes mellitus Nausea Delayed puberty Splenomegaly Diarrhea Fatigue Pleural effusion Growth delay Small for gestational age Macroglossia Cryptorchidism Osteoporosis Respiratory tract infection Obstructive lung disease Facial diplegia Ventricular tachycardia Atrioventricular block Cholelithiasis Myotonia Alzheimer disease Thin ribs Centrally nucleated skeletal muscle fibers Absent vas deferens Neurofibrillary tangles Abnormal EKG Obstructive azoospermia Recurrent bronchopulmonary infections Heart block Nonimmune hydrops fetalis Intellectual disability, progressive Atrial flutter First degree atrioventricular block Frontal balding Excessive daytime sleepiness Narcolepsy Meconium ileus Obsessive-compulsive trait Percussion myotonia Ring fibers Flexion contracture Anteverted nares Short nose Long philtrum Clinodactyly Elevated sweat chloride Spontaneous abortion Abnormality of the nervous system Mental deterioration Skeletal muscle atrophy Dysphagia Echogenic fetal bowel Myopathy Cerebral atrophy Cellular metachromasia Dementia Cerebral cortical atrophy Biliary tract obstruction Polyhydramnios Neonatal hypotonia Myalgia Feeding difficulties in infancy Cardiac arrest Stroke Muscular dystrophy Talipes Lower limb muscle weakness Unsteady gait Tachycardia Sensory neuropathy Brain atrophy Premature birth Mitral valve prolapse Decreased fetal movement Atrial fibrillation Progressive muscle weakness Hydrops fetalis Pneumonia Pancreatic adenocarcinoma Secretory diarrhea Wheezing Recurrent pneumonia Nephrocalcinosis Pancreatitis Tachypnea Hypercalciuria Portal hypertension Clubbing Intestinal obstruction Emphysema Pulmonary fibrosis Malnutrition Male infertility Bronchitis Hemoptysis Bronchiectasis Exocrine pancreatic insufficiency Neoplasm of the pancreas Chronic lung disease Chronic obstructive pulmonary disease Cor pulmonale Abnormality of the pancreas Allergy Biliary cirrhosis Ileus Pneumothorax Rectal prolapse Nasal polyposis Chronic infection Chronic pancreatitis Sinusitis Abnormal lung morphology Muscular hypotonia of the trunk Limb joint contracture Confusion Hypsarrhythmia Progressive neurologic deterioration Aspiration Delayed speech and language development Failure to thrive in infancy Polydipsia Radial deviation of finger Polyuria Abnormality of the ear Abnormality of the immune system Ketoacidosis Aspiration pneumonia Mild global developmental delay Productive cough Decreased antibody level in blood Beta-cell dysfunction Thickened ears Clinodactyly of the 4th finger Hypertension Immunodeficiency Recurrent respiratory infections Gastroesophageal reflux Scarring Cough Malabsorption Infertility Dyskinesia Abdominal distention Asthma Type I diabetes mellitus Decreased fertility Cognitive impairment Decreased testicular size Acne Clitoral hypertrophy Anemia Hyponatremia Cardiomyopathy Congestive heart failure Polycystic ovaries Reduced bone mineral density Alopecia Accelerated skeletal maturation Gynecomastia Osteopenia Arthralgia Ambiguous genitalia Arthritis Abnormality of the labia majora Hypotension Dilated cardiomyopathy Hirsutism Hepatic failure Hepatic steatosis Ascites Amenorrhea Hepatitis Telangiectasia Hyperpigmentation of the skin Hepatic fibrosis Hypogonadotrophic hypogonadism Acidosis Impotence Ectopic adrenal gland Hyperpigmented genitalia Arthropathy Abnormality of the menstrual cycle Primary adrenal insufficiency Neonatal hypoglycemia Male pseudohermaphroditism Renal salt wasting Decreased circulating cortisol level Elevated circulating follicle stimulating hormone level Absence of secondary sex characteristics Abnormal vagina morphology Decreased circulating aldosterone level Elevated circulating luteinizing hormone level Ambiguous genitalia, male Perineal hypospadias Increased circulating renin level Urogenital sinus anomaly Enlarged polycystic ovaries Abnormal oral glucose tolerance Decreased fertility in males Androgen insufficiency Enlarged ovaries Abnormal sex determination Female external genitalia in individual with 46,XY karyotype Hypernatriuria Premature adrenarche Adrenogenital syndrome Increased circulating ACTH level Adrenocorticotropic hormone excess Ambiguous genitalia, female Bifid scrotum Decreased fertility in females Hyperkalemia Congenital adrenal hyperplasia Abnormal joint morphology Osteomalacia Leukemia Prominent nose Reduced pancreatic beta cells Lymphedema Lymphoma Maternal diabetes Abnormality of the pancreatic islet cells Neutropenia Micrognathia High palate Ventricular septal defect Patent ductus arteriosus Retrognathia Umbilical hernia Joint laxity Postnatal growth retardation Oligohydramnios Fever Abdominal wall defect Cataract Lymphadenopathy Generalized hyperpigmentation Abnormality of the placenta Labial hypertrophy Small anterior fontanelle Abnormality of earlobe Abnormality of the face Hypoplastic fingernail Shallow orbits Prominent occiput Neonatal respiratory distress Precocious puberty Gingival overgrowth Meningitis Microalbuminuria Pericarditis Hypospadias Hepatocellular carcinoma Increased serum ferritin Increased reactive oxygen species production Acute hepatic failure Neoplasm of the liver Restrictive cardiomyopathy Alcoholism Microvesicular hepatic steatosis Increased serum iron Cholangiocarcinoma Constrictive pericarditis Aceruloplasminemia Elevated transferrin saturation Delayed skeletal maturation Feeding difficulties B-cell lymphoma Talipes equinovarus Chronic lymphatic leukemia Night sweats Skin nodule Mediastinal lymphadenopathy Abnormality of the peritoneum Hypertelorism Overgrowth Hypoinsulinemia Peripheral axonal neuropathy Type II diabetes mellitus Severe intrauterine growth retardation Retinopathy Severe failure to thrive Premature atrial contractions Microscopic nephrocalcinosis


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