Abnormality of the skeletal system, and Ascites

Diseases related with Abnormality of the skeletal system and Ascites

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


Top matches:

Low match HYPERBILIVERDINEMIA


Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.

HYPERBILIVERDINEMIA Is also known as green jaundice

Related symptoms:

  • Fatigue
  • Encephalopathy
  • Jaundice
  • Elevated hepatic transaminase
  • Nausea


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPERBILIVERDINEMIA

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15


Related symptoms:

  • Growth delay
  • Failure to thrive
  • Intrauterine growth retardation
  • Jaundice
  • Hypoglycemia


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15

Low match FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY


FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY Is also known as familial or idiopathic restrictive cardiomyopathy

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Fatigue
  • Dyspnea
  • Ascites


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY

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Other less relevant 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 PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5


Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (OMIM ).

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5 Is also known as nr1h4 deficiency|pfic5

Related symptoms:

  • Failure to thrive
  • Edema
  • Jaundice
  • Hypoglycemia
  • Elevated hepatic transaminase


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5

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

Low match OVARIAN CANCER


Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).

Related symptoms:

  • Neoplasm
  • Pain
  • Fatigue
  • Respiratory distress
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about OVARIAN CANCER

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 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

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Ascites

Symptoms // Phenotype % cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Hepatic failure Uncommon - Between 30% and 50% cases
Cholestasis Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Ascites. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Edema Fever Fatigue Pain Nausea Elevated hepatic transaminase Jaundice Esophageal varix

Rare Symptoms - Less than 30% cases


Vomiting Conjugated hyperbilirubinemia Abdominal pain Lymphoma Splenomegaly Nausea and vomiting Neoplasm Hypertension Peripheral edema Respiratory distress Abnormality of the coagulation cascade Hyperbilirubinemia Malnutrition Growth delay Hypoglycemia Abnormality of the liver Cirrhosis Abdominal distention Hypoalbuminemia Ocular pain Carcinoma Hodgkin lymphoma Episodic fever Ovarian neoplasm Back pain Breast carcinoma Melanoma Increased body weight Weight loss Gastroesophageal reflux Dysgerminoma Cholangitis Constipation Abnormality of metabolism/homeostasis Epigastric pain Adrenal calcification Bone-marrow foam cells Liver abscess Ovarian carcinoma Non-Hodgkin lymphoma Microscopic hematuria Nephrotic syndrome Microalbuminuria Focal segmental glomerulosclerosis Glomerulosclerosis Polycystic kidney dysplasia Steatorrhea Chronic kidney disease Congenital nephrotic syndrome Hyperlipidemia Hematuria Pruritus Stage 5 chronic kidney disease Confusion Proteinuria Renal insufficiency Dilatation Hearing impairment Renal cyst Abnormality of the kidney Portal hypertension Ovarian papillary adenocarcinoma Aplastic anemia Adrenal insufficiency Heart murmur Hydrops fetalis Lymphedema Congenital diaphragmatic hernia Hernia Atrial septal defect Abnormal ventricular filling Increased pulmonary vascular resistance Abnormal left ventricle morphology Tricuspid regurgitation Tachypnea Cystic hygroma Palpitations Atrial fibrillation Dyspnea Microvesicular hepatic steatosis Hepatic steatosis Intrauterine growth retardation Green urine Biliary atresia Cholelithiasis Decreased liver function Pericardial effusion Varicose veins Cachexia Lymphoproliferative disorder Global developmental delay Intraventricular hemorrhage Micronodular cirrhosis Prolonged prothrombin time Intrahepatic cholestasis Hyperammonemia T-cell lymphoma Impaired T cell function Hemophagocytosis Encephalopathy Nonimmune hydrops fetalis Uveitis Combined immunodeficiency Pancytopenia Decreased antibody level in blood Lymphadenopathy Autoimmunity Hepatosplenomegaly Immunodeficiency Facial edema Pulmonary edema Cholangiocarcinoma



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