Fever, and Vomiting

Diseases related with Fever and Vomiting

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


Top matches:

Medium match HEREDITARY CENTRAL DIABETES INSIPIDUS


Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.

HEREDITARY CENTRAL DIABETES INSIPIDUS Is also known as hereditary cdi|hereditary neurogenic diabetes insipidus

Related symptoms:

  • Growth delay
  • Fever
  • Vomiting
  • Diarrhea
  • Weight loss


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY CENTRAL DIABETES INSIPIDUS

Medium match FAMILIAL ISOLATED CONGENITAL ASPLENIA


Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.

FAMILIAL ISOLATED CONGENITAL ASPLENIA Is also known as splenic hypoplasia|asplenia, familial|hyposplenia, isolated congenital

Related symptoms:

  • Fever
  • Vomiting
  • Immunodeficiency
  • Abnormality of metabolism/homeostasis
  • Sepsis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL ISOLATED CONGENITAL ASPLENIA

Medium match FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1


CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This enzymatic defect results in decreased aldosterone and salt-wasting. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal. These patients have an increased ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).The CYP11B2 gene product also catalyzes the final step in aldosterone biosynthesis: the 18-oxidation of 18-OHB to aldosterone. A defect in that enzymatic step results in CMO type II deficiency (OMIM ), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).

FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1 Is also known as steroid 18-hydroxylase deficiency|cmo i|aldosterone deficiency due to defect in steroid 18-hydroxylase|18-hydroxylase deficiency|18-oxidase deficiency|aldosterone deficiency i|fhha1|hyperreninemic hypoaldosteronism, familial, 1|aldosterone synthase defici

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Fever
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1

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Other less relevant matches:

Medium match DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL


Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP ). Approximately 90% of patients are males with the X-linked recessive form, type I (OMIM ), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2 ). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001).Neurogenic, or central, diabetes insipidus (CDI ) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL Is also known as diabetes insipidus, nephrogenic, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL

Medium match RECURRENT NEISSERIA INFECTIONS DUE TO FACTOR D DEFICIENCY


Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.

RECURRENT NEISSERIA INFECTIONS DUE TO FACTOR D DEFICIENCY Is also known as factor d deficiency

Related symptoms:

  • Fever
  • Vomiting
  • Diarrhea
  • Recurrent infections
  • Respiratory tract infection


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RECURRENT NEISSERIA INFECTIONS DUE TO FACTOR D DEFICIENCY

Medium match ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2


Herpes simplex encephalitis (HSE) is a severe viral infection of the central nervous system (CNS) resulting most commonly from infection with HSV-1 and occasionally by HSV-2. The disease peaks in childhood between 3 months and 3 years of age, although later onset can also occur, and affected individuals usually have neurologic sequelae, including seizures and cognitive or motor impairment. Some individuals may have recurrences of an acute episode of HSE; however, patients have no clear susceptibility to infection to other viruses. The virus gains entry to the CNS through a neuronal route via the trigeminal or olfactory nerves, not via the blood. Replication of this enveloped double-stranded DNA (dsDNA) virus involves the production and accumulation of RNA species, including dsRNA, which are recognized by the intracellular TLR3 signaling pathway. The susceptibility to HSV in particular appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the CNS (review by Zhang et al., 2013; summary by Mork et al., 2015).For a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see {610551}.

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2 Is also known as herpes simplex encephalitis, susceptibility to, 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Fever
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2

Medium match CAROLI DISEASE


Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CAROLI DISEASE

Medium match HEPATITIS B VIRUS, SUSCEPTIBILITY TO


HBV is a DNA virus that enters the liver via the bloodstream, and replication occurs only in liver tissue. Transmission occurs by percutaneous or mucosal exposure to infected blood or other body fluids. Approximately one third of all cases of cirrhosis and half of all cases of hepatocellular carcinoma (HCC ) can be attributed to chronic HBV infection. Worldwide, 2 billion people have been infected with HBV, 360 million have chronic infection, and 600,000 die each year from HBV-related liver disease or HCC. However, there is marked geographic variability in HBV prevalence, with chronic infection affecting less than 2% of the populations of North America and western and northern Europe; between 2 and 7% of the populations of eastern and central Europe, the Amazon basin, the Middle East, and the Indian subcontinent; and more than 8% of the populations of Asia, sub-Saharan Africa, and the Pacific (Seeff and Hoofnagle, 2006; Shepard et al., 2006).

HEPATITIS B VIRUS, SUSCEPTIBILITY TO Is also known as hbv, susceptibility to

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Vomiting
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about HEPATITIS B VIRUS, SUSCEPTIBILITY TO

Medium match NEPHROGENIC DIABETES INSIPIDUS


Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

NEPHROGENIC DIABETES INSIPIDUS Is also known as ndi|diabetes insipidus, nephrogenic, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROGENIC DIABETES INSIPIDUS

Medium match FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY


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

Top 5 symptoms//phenotypes associated to Fever and Vomiting

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Irritability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Meningitis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dehydration Feeding difficulties in infancy Feeding difficulties Failure to thrive Hepatomegaly Diabetes insipidus Lethargy Polydipsia

Rare Symptoms - Less than 30% cases


Pain Episodic fever Nephrogenic diabetes insipidus Polyuria Constipation Short stature Unexplained fevers Hypertonic dehydration Diarrhea Recurrent infections Hypernatremia Abdominal pain Megacystis Fulminant hepatitis Global developmental delay Renal insufficiency Polyhydramnios Hydronephrosis Nausea and vomiting Anorexia Hydroureter Acute hepatitis Sepsis Hypovolemia Membranous nephropathy Chronic infection Dark urine Membranoproliferative glomerulonephritis Hepatocellular carcinoma Glomerulonephritis Hepatitis Cirrhosis Nausea Abnormality of the liver Carcinoma Pollakisuria Muscular hypotonia Enuresis nocturna Coma Impaired gluconeogenesis Neonatal hyperbilirubinemia Severe lactic acidosis Ketosis Neonatal hypoglycemia Hyperventilation Drowsiness Hyperuricemia Tachypnea Hyperbilirubinemia Metabolic acidosis Nocturia Tachycardia Lactic acidosis Apnea Hypoglycemia Acidosis Dyspnea Splenomegaly Generalized hypotonia Hypernatremic dehydration Functional abnormality of the bladder Hyposthenuria Jaundice Ascites Cholangiocarcinoma Decreased circulating aldosterone level Recurrent bacterial meningitis Complement deficiency Shock Purpura Recurrent bacterial infections Cough Skin rash Respiratory tract infection Weight loss Increased circulating renin level Renal salt wasting Encephalopathy Hyperkalemia Hyponatremia Failure to thrive in infancy Hypotension Immunodeficiency Abnormality of metabolism/homeostasis Heterotaxy Asplenia Polysplenia Abnormality of abdomen morphology Cognitive impairment EEG abnormality Liver abscess Dilatation Epigastric pain Cholangitis Esophageal varix Portal hypertension Polycystic kidney dysplasia Cholestasis Thrombocytosis Renal cyst Pruritus Abnormality of the kidney Hypertension Mental deterioration Severe viral infection Homonymous hemianopia CNS infection Herpes simplex encephalitis Encephalomalacia Hemianopia Encephalitis Hemiparesis Gliosis Confusion Increased urinary glycerol



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