Anemia, and Ascites

Diseases related with Anemia and Ascites

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


Top matches:

Low match HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD


HFASD is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016).

Related symptoms:

  • Anemia
  • Respiratory distress
  • Atrial septal defect
  • Edema
  • Hernia


SOURCES: OMIM MENDELIAN

More info about HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD

Low match LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2


Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 Is also known as cd27 deficiency

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2

Low match WOLMAN DISEASE


Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease (see this term). The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET MENDELIAN

More info about WOLMAN DISEASE

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Other less relevant matches:

Low match FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1


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

Low match CARNEY TRIAD


Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.

CARNEY TRIAD Is also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma

Related symptoms:

  • Anemia
  • Hypertension
  • Fatigue
  • Diarrhea
  • Headache


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CARNEY TRIAD

Low match HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA


Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

Low match DESMOPLASTIC SMALL ROUND CELL TUMOR


Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.

DESMOPLASTIC SMALL ROUND CELL TUMOR Is also known as dsrct

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Constipation


SOURCES: MESH ORPHANET MENDELIAN

More info about DESMOPLASTIC SMALL ROUND CELL TUMOR

Low match HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME


Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME

Low match LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1


Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

Low match PLEURAL MESOTHELIOMA


Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEURAL MESOTHELIOMA

Top 5 symptoms//phenotypes associated to Anemia and Ascites

Symptoms // Phenotype % cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Ascites. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abdominal pain Hypertension Pain Nausea and vomiting Splenomegaly Neoplasm Pericardial effusion

Rare Symptoms - Less than 30% cases


Respiratory distress Intrauterine growth retardation Growth delay Abdominal distention Pulmonary infiltrates Cachexia Mediastinal lymphadenopathy Thrombocytopenia Gastrointestinal hemorrhage Nausea Arrhythmia Pleural effusion Hemophagocytosis Lymphoproliferative disorder Pancytopenia Decreased antibody level in blood Lymphoma Autoimmunity Hepatosplenomegaly Immunodeficiency Weight loss Hyperglycemia Abnormality of the peritoneum Gastrointestinal obstruction Pancreatic hypoplasia Abdominal mass Neoplasm of the central nervous system Testicular neoplasm Meckel diverticulum Diabetes mellitus Absent gallbladder Annular pancreas Biliary atresia Duodenal atresia Malabsorption Sepsis Intestinal atresia Tracheoesophageal fistula Maternal diabetes Intestinal malrotation Ketoacidosis Severe intrauterine growth retardation Hyperbilirubinemia Iron deficiency anemia Anteriorly placed anus Acholic stools Diabetic ketoacidosis Stomatitis Jejunal atresia Abnormality of the pleura Hypotension Abnormal lung morphology Abnormality of the thorax Oral-pharyngeal dysphagia Intestinal obstruction Night sweats Abnormality of cardiovascular system physiology Cough Functional respiratory abnormality Fourth cranial nerve palsy Constitutional symptom Malignant mesothelioma Obstruction of the superior vena cava Pleural mesothelioma Peritoneal mesothelioma Chest pain Dyspnea Recurrent infections IgG deficiency Pneumonia Hemolytic anemia Lymphopenia Elevated erythrocyte sedimentation rate Autoimmune hemolytic anemia Hodgkin lymphoma Immune dysregulation Vomiting Neoplasm of the pancreas Recurrent aphthous stomatitis Histiocytosis Granulomatosis Generalized lymphadenopathy Dysgammaglobulinemia Dysphagia Ileus Ventricular septal defect Neoplasm of the lung T-cell lymphoma Stage 5 chronic kidney disease Confusion Proteinuria Renal insufficiency Hearing impairment Adrenal calcification Bone-marrow foam cells Esophageal varix Steatorrhea Malnutrition Adrenal insufficiency Hepatic failure Global developmental delay Impaired T cell function Nephrotic syndrome Aplastic anemia Uveitis Combined immunodeficiency Peripheral edema Facial edema Pulmonary edema Nonimmune hydrops fetalis Varicose veins Cystic hygroma Hydrops fetalis Lymphedema Congenital diaphragmatic hernia Hernia Atrial septal defect Hematuria Hyperlipidemia Ovarian neoplasm Gastrointestinal stroma tumor Sarcoma Constipation Sideroblastic anemia Extramedullary hematopoiesis Decreased liver function Oligohydramnios Metabolic acidosis Lactic acidosis EEG abnormality Acidosis Patent ductus arteriosus Respiratory insufficiency Seizures Adrenal overactivity Leiomyosarcoma Chronic kidney disease Adrenocortical adenoma Paraganglioma Pheochromocytoma Anorexia Tachycardia Headache Fatigue Congenital nephrotic syndrome Microalbuminuria Ocular pain Microscopic hematuria Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Pericardial mesothelioma



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