Fever, and Hypoglycemia

Diseases related with Fever and Hypoglycemia

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

Top matches:

Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


SOURCES: OMIM MENDELIAN

More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004).Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways.

SUDDEN INFANT DEATH SYNDROME Is also known as sids

Related symptoms:

  • Fever
  • Respiratory distress
  • Abnormal heart morphology
  • Pneumonia
  • Acidosis


SOURCES: OMIM MESH MENDELIAN

More info about SUDDEN INFANT DEATH SYNDROME

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY Is also known as fructose-1,6-diphosphatase deficiency|fbpase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

Other less relevant matches:

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form|cptii, severe infantile form|carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia|carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|cpt2, hepatocardiomuscular form|cptii, hepatoc

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Respiratory distress
  • Cardiomyopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

Medium match PITUITARY APOPLEXY

The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Is also known as cyp21 deficiency|21-hydroxylase deficiency|congenital adrenal hyperplasia 1|cah1|adrenal hyperplasia iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypertension
  • Fever
  • Obesity


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.

3-HYDROXY-3-METHYLGLUTARIC ACIDURIA Is also known as hydroxymethylglutaric aciduria|hmg-coa lyase deficiency|3-hydroxy-3-methylglutaryl-coa lyase deficiency|hmgcl deficiency|hl deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity
  • Anemia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA

Medium match PGM1-CDG

Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency|classic branched-chain ketoaciduria|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic msud|bckd deficiency|classic bckd deficiency|branched-chain ketoaciduria|branched-chain alpha-keto acid dehydroge

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC MAPLE SYRUP URINE DISEASE

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Top 5 symptoms//phenotypes associated to Fever and Hypoglycemia

Symptoms // Phenotype % cases
Coma Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Lethargy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Acidosis Hepatic steatosis Generalized hypotonia Hepatomegaly Irritability Dilated cardiomyopathy Metabolic acidosis Encephalopathy Elevated serum creatine phosphokinase Excessive daytime somnolence Elevated hepatic transaminase Nausea and vomiting Hyperammonemia Hypertension Cardiomyopathy Muscular hypotonia Ketonuria

Rare Symptoms - Less than 30% cases

Aciduria Hypoketotic hypoglycemia Pancreatitis Dyspnea Anxiety Lactic acidosis Tachycardia Ventricular hypertrophy Cardiomegaly Decreased plasma carnitine Feeding difficulties Hyperuricemia Hepatic failure Global developmental delay Feeding difficulties in infancy Ketosis Hepatitis Spasticity Impaired gluconeogenesis Myopathy Arrhythmia Growth abnormality Dicarboxylic aciduria Short stature Confusion Respiratory distress Ataxia Apnea Increased level of hippuric acid in urine Recurrent hypoglycemia Growth delay Depressivity Headache Malignant hyperthermia Muscle weakness Hypogonadotrophic hypogonadism Reduced amygdala volume Premature pubarche Pierre-Robin sequence Cardiac arrest Hyperinsulinemic hypoglycemia Abnormality of the coagulation cascade Exercise intolerance Anemia Diarrhea Small face Rhabdomyolysis Abnormality of the liver Myoclonus Hypogonadism Glutaric aciduria Nonketotic hypoglycemia 3-Methylglutaric aciduria Organic aciduria Increased level of 3-hydroxy-3-methylglutaric acid in urine Micrognathia Abnormal facial shape Cleft palate Intellectual disability, mild Prominent forehead Apathy Chest pain Chronic hepatitis Dehydration Abnormality of the cerebral white matter EEG abnormality Hypothyroidism Cleft lip Acute pancreatitis Delayed puberty Muscle cramps Bifid uvula Type I transferrin isoform profile Hearing impairment Decreased serum insulin-like growth factor 1 Bradycardia Elevated plasma branched chain amino acids Failure to thrive Pain Congestive heart failure Recurrent respiratory infections Abdominal pain Hypertrophic cardiomyopathy Respiratory tract infection Clumsiness Left ventricular hypertrophy Delayed gross motor development Episodic ataxia Easy fatigability Decreased muscle mass Neck muscle weakness Skeletal myopathy Endocardial fibroelastosis Fasting hypoglycemia Generalized tonic-clonic seizures with focal onset Acute encephalopathy Reye syndrome-like episodes Reduced muscle carnitine level Irregular respiration Cerebral edema Ketoacidosis Reduced antithrombin III activity Hyperactivity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Intellectual disability Hypertonia Adrenogenital syndrome Osteoporosis Respiratory failure Opisthotonus Weight loss Ophthalmoplegia Nausea Postural instability Tetraplegia Otitis media Spastic tetraplegia Hallucinations Cerebral palsy Increased intracranial pressure Impulsivity Adrenocortical carcinoma Osteopenia Abnormal spermatogenesis Neonatal hypoglycemia Hypoxemia Bronchiolitis Microvesicular hepatic steatosis Glutaric acidemia Hypercapnia Apneic episodes in infancy Hyperbilirubinemia Tachypnea Drowsiness Hyperventilation Severe lactic acidosis Prolonged QT interval Neonatal hyperbilirubinemia Increased urinary glycerol Hyperhidrosis Loss of consciousness Respiratory arrest Macrovesicular hepatic steatosis Hypoglycemic encephalopathy Ptosis Reduced visual acuity Photophobia Bronchitis Venous thrombosis Growth hormone deficiency Parkinsonism Cognitive impairment Dysarthria Tremor Gait disturbance Dystonia Cerebral atrophy Dementia Rigidity Mental deterioration Abnormality of movement Migraine Shock Memory impairment Abnormality of extrapyramidal motor function Postural tremor Personality changes Resting tremor Hand tremor Head tremor Kinetic tremor Abnormal heart morphology Pneumonia Small for gestational age Pallor Hypotension Congenital adrenal hyperplasia Polycystic ovaries Hypospadias Carcinoma Infertility Hirsutism Amenorrhea Abnormality of the cardiovascular system Ambiguous genitalia Recurrent urinary tract infections Gynecomastia Azoospermia Sarcoma Neoplasm Precocious puberty Abnormality of the thorax Clitoral hypertrophy Adrenal insufficiency Decreased fertility Lipoma Adrenal hyperplasia Renal salt wasting Astrocytoma Abnormality of the ovary Obesity Abnormal static automated perimetry test Diplopia Pituitary adenoma Hypergonadotropic hypogonadism Cranial nerve paralysis Hyponatremia Impotence Blurred vision Hypopituitarism Growth hormone excess Increased circulating cortisol level Oligomenorrhea Prolactin excess Pituitary hypothyroidism Abnormal caudate nucleus morphology Adrenocorticotropic hormone deficiency Central diabetes insipidus Normochromic anemia Galactorrhea Abnormality of the cerebrospinal fluid Mydriasis Prolactin deficiency Trigeminal neuralgia Bitemporal hemianopia Abnormal kinetic perimetry test Thunderclap headache Decreased carnitine level in liver


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