Edema, and Type I diabetes mellitus

Diseases related with Edema and Type I diabetes mellitus

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

Top matches:

Enteric anendocrinosis is a very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.

ENTERIC ANENDOCRINOSIS Is also known as enteric anendocrinosis|congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Acidosis
  • Malabsorption


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ENTERIC ANENDOCRINOSIS

Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.

HEREDITARY CHRONIC PANCREATITIS Is also known as hp|pancreatitis, chronic|hpc

Related symptoms:

  • Neoplasm
  • Pain
  • Fever
  • Vomiting
  • Diabetes mellitus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY CHRONIC PANCREATITIS

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Other less relevant matches:

Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

CRANIO-OSTEOARTHROPATHY Is also known as sdam|currarino idiopathic osteoarthropathy|currarino disease|reginato-schiapachasse syndrome

Related symptoms:

  • Ventricular septal defect
  • Headache
  • Patent ductus arteriosus
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIO-OSTEOARTHROPATHY

Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Is also known as cystinosis, intermediate

Related symptoms:

  • Short stature
  • Failure to thrive
  • Muscle weakness
  • Visual impairment
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

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

Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.

WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WOLFRAM SYNDROME 1; WFS1

Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Top 5 symptoms//phenotypes associated to Edema and Type I diabetes mellitus

Symptoms // Phenotype % cases
Vomiting Common - Between 50% and 80% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Dehydration Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Type I diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cataract Weight loss Fever Seizures Diarrhea Pancreatitis Renal insufficiency Pigmentary retinopathy Malabsorption Abnormal facial shape Generalized hypotonia Global developmental delay Hypothyroidism Muscle weakness Headache Constipation Portal hypertension Nausea Abnormality of the liver Pain Depressivity Jaundice

Rare Symptoms - Less than 30% cases

Hepatomegaly Polydipsia Vesicoureteral reflux Diabetes insipidus Congenital cataract Acidosis Aciduria Abnormality of the fingernails Abnormality of the urinary system Photophobia Congestive heart failure Hypergonadotropic hypogonadism Neurogenic bladder Central diabetes insipidus Encephalopathy Histiocytosis Autoimmunity Hepatitis Cholelithiasis Abnormality of the thyroid gland Thyroiditis Arthralgia Abnormality of the pinna Back pain Nausea and vomiting Respiratory arrest Elevated hepatic transaminase Visual impairment Gait disturbance Myopathy Muscle cramps Retinopathy Ptosis Ataxia Scarring Hypogonadism Respiratory failure Abnormality of the nervous system Rigidity Cardiomyopathy Depressed nasal bridge Metabolic acidosis Hypertension Abdominal pain Dysarthria Aminoaciduria Pleural effusion Intellectual disability Motor delay Telecanthus Dysphagia Tremor Behavioral abnormality Peripheral neuropathy Anteverted nares Cholestatic liver disease Constriction of peripheral visual field Cognitive impairment Adrenal insufficiency Chronic diarrhea Hypocalcemia Hypoplasia of dental enamel Cerebral calcification Hypopigmented skin patches Sinusitis Optic atrophy Macular atrophy Metaphyseal dysplasia Opacification of the corneal stroma Sensorineural hearing impairment Primary adrenal insufficiency Asplenia Alopecia universalis Decreased circulating aldosterone level Alopecia totalis Tetany Achalasia Abnormality of the cerebral vasculature Chronic mucocutaneous candidiasis Hearing impairment Vitiligo Growth delay Antinuclear antibody positivity Nystagmus Adrenal hyperplasia Chronic sinusitis Increased circulating cortisol level Hypoparathyroidism Hypotension Hypotrichosis Otitis media Polyphagia Stroke-like episode Central apnea Megaloblastic anemia Dyschromatopsia Severe sensorineural hearing impairment Hydronephrosis Anxiety Atrophy/Degeneration affecting the brainstem Blurred vision Testicular atrophy Hydroureter Aggressive behavior Anosmia Sleep apnea Leukoencephalopathy Psychosis Abnormal bleeding Neurodegeneration Keratoconjunctivitis Myoclonus Blindness Anemia Decreased antibody level in blood Cerebral atrophy Apnea Skin rash Pallor Reduced visual acuity Rod-cone dystrophy Alopecia Limited mobility of proximal interphalangeal joint Dementia Impaired collagen-induced platelet aggregation Diffuse leukoencephalopathy Central sleep apnea Gastric ulcer Abnormal glucose tolerance Sideroblastic anemia Pollakisuria Dilatation Thrombocytopenia Gastritis Macrocephaly Alopecia areata Ketosis Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Progressive proximal muscle weakness Myoglobinuria Loss of ability to walk Drowsiness Fatigable weakness Acute kidney injury Rhabdomyolysis Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Stridor Hemiplegia Polycystic kidney dysplasia Slurred speech Easy fatigability Abnormal corpus callosum morphology Acute pancreatitis Mutism Increased muscle lipid content Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Glutaric acidemia Generalized aminoaciduria Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Poor head control Ragged-red muscle fibers Chronic hepatitis Hyperlordosis Hypertrophic cardiomyopathy Myalgia Proximal muscle weakness Hypoglycemia Difficulty walking High forehead Dyspnea Gait ataxia Elevated serum creatine phosphokinase Areflexia Arrhythmia Respiratory distress Dilated cardiomyopathy Respiratory insufficiency Elevated hemoglobin A1c Feeding difficulties Spasticity Muscular hypotonia Strabismus Patchy atrophy of the retinal pigment epithelium Decreased circulating parathyroid hormone level Salt craving Chronic active hepatitis Chronic atrophic gastritis Abnormality of calcium-phosphate metabolism Female hypogonadism Respiratory tract infection Lethargy Hyperammonemia Abnormality of the genital system Spastic tetraparesis Scapular winging Exercise intolerance Cardiac arrest Clonus Leukodystrophy Decreased liver function Wide anterior fontanel Anorexia Left ventricular hypertrophy Renal dysplasia Heterotopia Pachygyria Tetraparesis Abnormality of the cerebral white matter Cardiomegaly Waddling gait Increased serum lactate Gliosis Generalized muscle weakness Tetraplegia Renal cyst Coma Hepatic steatosis Pulmonary hypoplasia Lactic acidosis Joint hyperflexibility Limb muscle weakness Clinodactyly of the 4th finger Intrauterine growth retardation Thickened ears Ureteral duplication Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Hypoplastic helices Bilateral renal hypoplasia Breast aplasia Small earlobe Aplasia cutis congenita of scalp Pyelonephritis Absent nipple Duplication of renal pelvis Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Short columella Palpebral edema Hypoplastic nipples Aplasia cutis congenita Narrow nasal bridge Multiple lipomas Agenesis of permanent teeth Abnormality of the scalp Ventricular septal defect Cupped ear Spina bifida occulta Maternal diabetes Meningocele Abnormality of the skull Lipoma Syringomyelia Joint swelling Transposition of the great arteries Hyperostosis Tracheoesophageal fistula Abnormality of the genitourinary system Holoprosencephaly Meningitis Patent ductus arteriosus Spina bifida Situs inversus totalis Large fontanelles Omphalocele Osteoarthritis Eczema Urinary incontinence Anal atresia Talipes Joint stiffness Arthritis 2-3 toe syndactyly Abnormality of the thorax Abnormality of tibia morphology Abnormal thrombosis Epicanthus Low-set ears Splanchnic vein thrombosis Chronic calcifying pancreatitis Pancreatic pseudocyst Pancreatic calcification Abnormal enzyme/coenzyme activity Recurrent pancreatitis Portal vein thrombosis Chronic pancreatitis Elevated C-reactive protein level Peritonitis Abnormality of the dentition Neoplasm of the pancreas Exocrine pancreatic insufficiency Hyperparathyroidism Steatorrhea Leukocytosis Carcinoma Sepsis Decreased body weight Neoplasm Abnormal cellular phenotype Hyperchloremic metabolic acidosis Myopia Syndactyly Cutaneous syndactyly Delayed eruption of teeth Narrow palpebral fissure Abnormality of the nail Abnormality of the hair Hypohidrosis Recurrent urinary tract infections Fine hair Renal hypoplasia Hypotelorism Renal agenesis Abnormality of the skin Nail dysplasia Iris coloboma Hyperhidrosis Dry skin Nail dystrophy Finger syndactyly Microtia Coloboma Blepharophimosis Sparse hair Protruding ear Abnormality of the kidney Camptodactyly Mandibular prognathia Chronic constipation Abnormal cortical bone morphology Transient neonatal diabetes mellitus Stereotypy Retinal pigment epithelial mottling Nephrogenic diabetes insipidus Corneal crystals Renal tubular dysfunction Dysphasia Hypophosphatemia Rickets Hypokalemia Growth abnormality Cranial nerve paralysis Nephropathy Flexion contracture Stage 5 chronic kidney disease Delayed puberty Corneal opacity Abnormal pyramidal sign Proteinuria Intellectual disability, mild Short stature Adenocarcinoma of the large intestine Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Elevated intracellular cystine Short nose Spider hemangioma Hyperglycemia Beta-cell dysfunction Pancreatic hypoplasia Limb joint contracture Autoimmune antibody positivity Mild global developmental delay Aspiration pneumonia Ketoacidosis Prominent metopic ridge Abnormality of the immune system Abnormality of the ear Polyuria Radial deviation of finger Long philtrum Bilateral ptosis Failure to thrive in infancy Aspiration Progressive neurologic deterioration Hypsarrhythmia Downturned corners of mouth Confusion Small for gestational age Muscular hypotonia of the trunk Pneumonia Clinodactyly Abnormal large intestine physiology Polyclonal elevation of IgM Abnormality of the knee Dermoid cyst Osteoporosis Splenomegaly Hydromyelia Presacral teratoma Anterior sacral meningocele Hemisacrum Cloacal exstrophy Rectal fistula Sacral meningocele Sacral lipoma Sirenomelia Exstrophy Hepatosplenomegaly Rectal abscess Absence of the sacrum Clubbing of toes Cyclopia Mottled pigmentation Lower limb undergrowth Spinal deformities Bladder exstrophy Teratoma Deviation of finger Urinary retention Osteopenia Pruritus Elevated alkaline phosphatase of hepatic origin Cholangitis Palmar telangiectasia Abnormal biliary tract morphology Chronic hepatic failure Vitamin K deficiency Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Vitamin D deficiency Prolonged prothrombin time Ulcerative colitis Cirrhosis Acute hepatic failure Hepatocellular carcinoma Uveitis Amyloidosis Celiac disease Generalized amyotrophy Inflammation of the large intestine Hypoalbuminemia Hepatic fibrosis Cholestasis Ascites Abnormality of blood glucose concentration


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