Fever, and Diabetes mellitus

Diseases related with Fever and Diabetes mellitus

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

Top matches:

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.

PYOGENIC ARTHRITIS-PYODERMA GANGRENOSUM-ACNE SYNDROME Is also known as familial recurrent arthritis|papa syndrome|fra

Related symptoms:

  • Fever
  • Fatigue
  • Arthralgia
  • Arthritis
  • Proteinuria


SOURCES: ORPHANET MENDELIAN

More info about PYOGENIC ARTHRITIS-PYODERMA GANGRENOSUM-ACNE SYNDROME

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

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Other less relevant matches:

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

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

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

Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

Top 5 symptoms//phenotypes associated to Fever and Diabetes mellitus

Symptoms // Phenotype % cases
Fatigue Common - Between 50% and 80% cases
Type I diabetes mellitus Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Dehydration Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Renal insufficiency Osteoporosis Growth delay Seizures Stage 5 chronic kidney disease Delayed puberty Pancreatitis Hypothyroidism Jaundice Intellectual disability Osteopenia Weight loss Feeding difficulties Failure to thrive Proteinuria Polydipsia Cardiomyopathy Myopathy Pain Splenomegaly

Rare Symptoms - Less than 30% cases

Pigmentary retinopathy Dysphasia Rickets Portal hypertension Visual impairment Aciduria Nephropathy Gait disturbance Malabsorption Retinopathy Photophobia Headache Corneal crystals Immunodeficiency Retinal pigment epithelial mottling Dyspnea Cirrhosis Elevated hepatic transaminase Depressivity Congestive heart failure Stroke Acidosis Hearing impairment Respiratory insufficiency Arrhythmia Anemia Muscular hypotonia Generalized hypotonia Genu valgum Depressed nasal bridge Heat intolerance Cognitive impairment Skeletal muscle atrophy Dysphagia Hypohidrosis Generalized muscle weakness Recurrent respiratory infections Histiocytosis Abnormality of the dentition Respiratory distress Frontal bossing Hypertension Short stature Elevated intracellular cystine Cholelithiasis Coma Neoplasm Abdominal pain Scarring Short nose Aminoaciduria Abnormality of metabolism/homeostasis Autoimmunity Dry skin Pleural effusion Confusion Lethargy Skin ulcer Exocrine pancreatic insufficiency Polyuria Arthralgia Abnormality of the thorax Upslanted palpebral fissure Primary hypothyroidism Hypophosphatemic rickets Recurrent corneal erosions Cataract Decreased plasma carnitine Male hypogonadism Cardiorespiratory arrest Preeclampsia Abnormality of the skull Increased serum ferritin Skeletal dysplasia Flushing Hypoparathyroidism Venous thrombosis Anxiety Microscopic hematuria Pallor Nyctalopia Microcytic anemia Adenocarcinoma of the large intestine Paresthesia Adrenal insufficiency Neutropenia Pulmonary arterial hypertension Generalized aminoaciduria Polyclonal elevation of IgM Dilated superficial abdominal veins Cholangitis Inflammation of the large intestine Generalized amyotrophy Abnormality of the thyroid gland Episodic metabolic acidosis Celiac disease Amyloidosis Rachitic rosary Renal Fanconi syndrome Thyroiditis Uveitis Hepatocellular carcinoma Acute hepatic failure Ulcerative colitis Cholestatic liver disease Prolonged prothrombin time Recurrent systemic pyogenic infections Abnormal biliary tract morphology Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Abnormality of the hypothalamus-pituitary axis Elevated alkaline phosphatase of hepatic origin Palmar telangiectasia Chronic hepatic failure Vitamin D deficiency Vitamin K deficiency Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Neoplasm of the liver Wolff-Parkinson-White syndrome Abnormal hemoglobin Blindness Memory impairment Hypoalbuminemia Hypopigmentation of the skin Ventricular hypertrophy Abnormality of skin pigmentation Progressive muscle weakness Hypogonadism Aspiration Delayed skeletal maturation EMG abnormality Scapular winging Macular degeneration Atherosclerosis Cerebral atrophy Respiratory insufficiency due to muscle weakness Progressive neurologic deterioration Pelvic girdle muscle weakness Dilatation of the cerebral artery Difficulty running Exertional dyspnea Emphysema Nasal speech Stroke-like episode Diaphragmatic paralysis Delayed gross motor development Increased muscle fatiguability Abdominal wall muscle weakness Atrioventricular block Shortened PR interval Abnormal CNS myelination Firm muscles Cerebral calcification Nephrolithiasis Hypersplenism Areflexia Hypoglycemia Difficulty walking Gastroesophageal reflux Respiratory failure Glycosuria Elevated serum creatine phosphokinase Dilatation Conductive hearing impairment Male infertility Hypopigmentation of hair Ptosis Progressive proximal muscle weakness Malar prominence Monochromacy EEG abnormality Proximal muscle weakness Chronic kidney disease Peripheral demyelination Type II diabetes mellitus Failure to thrive in infancy Metaphyseal widening Hyponatremia Cardiomegaly Abnormality of the cardiovascular system Urinary incontinence Myalgia Macroglossia Oral-pharyngeal dysphagia Limb muscle weakness Muscular dystrophy Paralysis Hypertrophic cardiomyopathy Scoliosis Abnormality of the kidney Hepatic fibrosis Abnormality of the anterior pituitary Cranial nerve paralysis Stereotypy Corneal opacity Abnormal pyramidal sign Intellectual disability, mild Germinoma Hypertonic dehydration Hypokalemia Nocturia Pollakisuria Central diabetes insipidus Enuresis Orthostatic hypotension Diabetes insipidus Growth abnormality Hypophosphatemia Growth hormone deficiency Short distal phalanx of finger Ectodermal dysplasia Hypodontia Hypoplasia of the maxilla Delayed eruption of teeth Everted lower lip vermilion Thick vermilion border Hypotrichosis Renal tubular dysfunction Sparse hair Respiratory tract infection Hyperhidrosis Prominent forehead Intellectual disability, severe Nephrogenic diabetes insipidus Hypotension Syncope Microdontia Crohn's disease Hyperparathyroidism Steatorrhea Leukocytosis Nausea Carcinoma Increased inflammatory response Myositis Peritonitis Pustule Increased antibody level in blood Acne Limitation of joint mobility Lymphadenopathy Arthritis Neoplasm of the pancreas Abnormal thrombosis Gliosis Splanchnic vein thrombosis Wide nose Vertigo Irritability Constipation Long philtrum Hypertelorism Chronic calcifying pancreatitis Elevated C-reactive protein level Pancreatic pseudocyst Pancreatic calcification Abnormal enzyme/coenzyme activity Recurrent pancreatitis Portal vein thrombosis Chronic pancreatitis Underdeveloped nasal alae Eczema Cholestasis Paraparesis Tubulointerstitial nephritis Macrocytic anemia Ischemic stroke Hyperammonemia Leukopenia Spastic tetraparesis Choreoathetosis Delayed CNS myelination Tetraparesis Pancytopenia Postural instability Metabolic acidosis Nausea and vomiting Neurological speech impairment Ketonuria Organic aciduria Dystonia Metabolic ketoacidosis Hepatitis Ascites Pruritus Abnormality of the liver Hepatosplenomegaly Encephalopathy Chronic metabolic acidosis Methylmalonic aciduria Cerebellar hemorrhage Abnormal globus pallidus morphology Tubulointerstitial abnormality Methylmalonic acidemia Hyperglycinemia Homocystinuria Thrombocytopenia Optic atrophy Sparse scalp hair Prominent supraorbital ridges Sparse body hair Agenesis of permanent teeth Aplasia/Hypoplasia of the eyebrow Anhidrosis Absent eyebrow Brittle hair Dysphonia Rhinitis Sparse eyelashes Short chin Hoarse voice Sparse and thin eyebrow Thin skin Depressed nasal ridge Hypoplastic nipples Absent eyelashes Ataxia Abnormal oral mucosa morphology Global developmental delay Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Periorbital wrinkles Everted upper lip vermilion Hypohidrotic ectodermal dysplasia Soft skin Anhidrotic ectodermal dysplasia Absent nipple Concave nail Anterior hypopituitarism Conical tooth Anodontia Taurodontia Oral motor hypotonia


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