Edema, and Nausea and vomiting

Diseases related with Edema and Nausea and vomiting

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

Top matches:

Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

HEREDITARY ANGIOEDEMA TYPE 3 Is also known as hae 3|inherited estrogen-dependent angioneurotic edema|inherited estrogen-associated angioedema|inherited estrogen-associated angioneurotic edema|hae iii|hereditary angioedema with normal c1 inhibitor activity|hae-iii|angioneurotic edema, hereditary, with

Related symptoms:

  • Pain
  • Edema
  • Vomiting
  • Abdominal pain
  • Urticaria


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEREDITARY ANGIOEDEMA TYPE 3

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Feeding difficulties
  • Edema
  • Blindness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3

The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I (OMIM ), and Crigler-Najjar syndrome type II (OMIM ); and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (OMIM ), Rotor syndrome (OMIM ), and several forms of intrahepatic cholestasis ({147480}, {211600}, {214950}, {243300}). Detailed studies show that patients with Gilbert syndrome have reduced activity of bilirubin glucuronosyltransferase (Bosma et al., 1995, Koiwai et al., 1995). Genetic Heterogeneity of HyperbilirubinemiaSee also Crigler-Najjar syndrome type I (HBLRCN1 ), Crigler-Najjar syndrome type II (HBLRCN2 ), and transient familial neonatal hyperbilirubinemia (HBLRTFN ), all caused by mutation in the UGT1A1 gene (OMIM ) on chromosome 2q37; Dubin-Johnson syndrome (DJS, HBLRDJ; {237500}), caused by mutation in the ABCC2 gene (OMIM ) on chromosome 10q24; and Rotor syndrome (HBLRR ), caused by digenic mutation in the SLCO1B1 (OMIM ) and SLCOB3 (OMIM ) genes, both on chromosome 12p.

GILBERT SYNDROME Is also known as hyperbilirubinemia i|hyperbilirubinemia, gilbert type|hyperbilirubinemia, arias type|hblrg

Related symptoms:

  • Fatigue
  • Diarrhea
  • Jaundice
  • Nausea
  • Dehydration


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GILBERT SYNDROME

Other less relevant matches:

Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; {256300}), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998).D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic SyndromeFocal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (OMIM ), caused by mutation in the TRPC6 gene (OMIM ); FSGS3 (OMIM ), associated with variation in the CD2AP gene (OMIM ); FSGS4 (OMIM ), mapped to chromosome 22q12; FSGS5 (OMIM ), caused by mutation in the INF2 gene (OMIM ); FSGS6 (OMIM ), caused by mutation in the MYO1E gene (OMIM ); FSGS7 (OMIM ), caused by mutation in the PAX2 gene (OMIM ); FSGS8 (OMIM ), caused by mutation in the ANLN gene (OMIM ); and FSGS9 (OMIM ), caused by mutation in the CRB2 gene (OMIM ).See also NPHS1 (OMIM ), caused by mutation in the NPHS1 gene (OMIM ); NPHS2 (OMIM ), caused by mutation in the podocin gene (OMIM ); NPHS3 (OMIM ), caused by mutation in the PLCE1 gene (OMIM ); and NPHS4 (OMIM ), caused by mutation in the WT1 gene (OMIM ).

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 Is also known as glomerulosclerosis, focal segmental, 1

Related symptoms:

  • Hearing impairment
  • Pain
  • Anemia
  • Hypertension
  • Edema


SOURCES: OMIM MESH MENDELIAN

More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1

characterized by the deficiency or absence of the enzymes sucrase and isomaltase existing at, and usually before birth; this enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (ie, sucrose) and certain products of starch digestion (dextrins); only evident soon after birth when sucrose or starches, such as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant, breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet.

SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID Is also known as sucrose-isomaltose malabsorption, congenital|disaccharide intolerance i|sucrose intolerance, congenital|si deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID

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

A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.

OVARIAN HYPERSTIMULATION SYNDROME Is also known as ovarian hyperstimulation syndrome, familial gestational spontaneous|ohss

Related symptoms:

  • Abdominal pain
  • Nausea and vomiting
  • Infertility
  • Nausea
  • Hirsutism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OVARIAN HYPERSTIMULATION SYNDROME

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

Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000).Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2 ), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; {607115}), which shows earlier onset and a more severe phenotype. Genetic Heterogeneity of Familial Cold Autoinflammatory SyndromeSee also FCAS2 (OMIM ), caused by mutation in the NLRP12 gene (OMIM ) on chromosome 19q13; FCAS3 (OMIM ), caused by mutation in the PLCG2 gene (OMIM ) on chromosome 16q23; and FCAS4 (OMIM ), caused by mutation in the NLRC4 gene (OMIM ) on chromosome 2p22.

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 Is also known as cold urticaria, familial|fcas|cold hypersensitivity|caps1|fcu|cold-induced autoinflammatory syndrome, familial|cryopyrin-associated periodic syndrome 1

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Fever
  • Headache


SOURCES: OMIM MENDELIAN

More info about FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1

Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.

RENAL PSEUDOHYPOALDOSTERONISM TYPE 1 Is also known as autosomal dominant pseudohypoaldosteronism type 1|pha i, autosomal dominant

Related symptoms:

  • Short stature
  • Failure to thrive
  • Feeding difficulties
  • Vomiting
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL PSEUDOHYPOALDOSTERONISM TYPE 1

Top 5 symptoms//phenotypes associated to Edema and Nausea and vomiting

Symptoms // Phenotype % cases
Nausea Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Dehydration Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Nausea and vomiting. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Failure to thrive Fever Abdominal pain

Rare Symptoms - Less than 30% cases

Hyperkalemia Angioedema Increased circulating renin level Renal salt wasting Episodic fever Hyponatremia Hypotension Failure to thrive in infancy Abdominal distention Urticaria Growth delay Ascites Hearing impairment Pleural effusion Fatigue Nephrotic syndrome Proteinuria Peripheral edema Splenomegaly Cold urticaria Neoplasm Hemorrhagic ovarian cyst Capillary leak Increased serum testosterone level Short stature Hypovolemia Acidosis Respiratory tract infection Enlarged polycystic ovaries Metabolic acidosis Increased body weight Ovarian cyst Hyperaldosteronism Renal tubular dysfunction Pulmonary edema Pseudohypoaldosteronism Generalized edema Increased circulating gonadotropin level Weight loss Leukemia Amyloidosis Chills Petechiae Leukocytosis Conjunctivitis Skin rash Myalgia Arthralgia Headache Sensorineural hearing impairment Abnormality of the peritoneum Mediastinal lymphadenopathy Skin nodule Lymphadenopathy Night sweats Chronic lymphatic leukemia B-cell lymphoma Glucose intolerance Abnormality of the genitourinary system Renal amyloidosis Lymphedema Insulin resistance Lymphoma Neutropenia Meningitis Intestinal edema Aspiration Jaundice Kernicterus Unconjugated hyperbilirubinemia Neonatal hyperbilirubinemia Conjugated hyperbilirubinemia Intrahepatic cholestasis Hyperbilirubinemia Cholestasis Episodic abdominal pain Upper airway obstruction Episodic vomiting Hypertension Cerebral visual impairment Status epilepticus Increased serum lactate Neonatal hypotonia Pneumonia Blindness Facial edema Generalized hypotonia Seizures Episodic upper airway obstruction Anemia Renal insufficiency Hirsutism Abnormality of metabolism/homeostasis Infertility Decreased circulating aldosterone level Pharyngeal edema Feeding difficulties in infancy Abdominal colic Malnutrition Nephrolithiasis Malabsorption Irritability Congenital nephrotic syndrome Confusion Microalbuminuria Ocular pain Microscopic hematuria Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Chronic kidney disease Hyperlipidemia Hematuria Stage 5 chronic kidney disease Hyperactive renin-angiotensin system


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Systemic lupus erythematosus, related diseases and genetic alterations Myopia and Retinoblastoma, related diseases and genetic alterations Hepatomegaly and Pruritus, related diseases and genetic alterations