Abnormality of the skeletal system, and Abnormality of the liver

Diseases related with Abnormality of the skeletal system and Abnormality of the liver

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


Top matches:

Low match GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO; GVHDS


Transplantation of hematopoietic stem cells is a successful therapy for some tumors derived from bone marrow precursors, such as certain leukemias and lymphomas, and it can be used to cure some primary immunodeficiencies and inherited hematopoietic stem-cell diseases. One of the major complications of allogeneic bone marrow transplantation is graft-versus-host disease (GVHD), in which mature donor T cells that contaminate the allogeneic bone marrow recognize the tissues of the recipient as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease. GVHD is particularly virulent when there is a mismatch of a major major histocompatibility complex (MHC) class I or class II antigen. Most transplants are therefore undertaken only when the donor and recipient are HLA-matched sibs or, less frequently, when there is an HLA-matched unrelated donor. However, GVHD also occurs in the context of disparities between minor histocompatibility antigens, and immunosuppression must be used in every stem-cell transplant (summary by Janeway et al., 2005).At the core of the immunogenetic basis for GVHD is the diversity of HLA, killer immunoglobulin-like receptors (KIRs; see {604936}), and cytokine genes. HLA class I molecules function as ligands for natural killer cell inhibitory KIRs, indicating that GVHD results from a complex interplay between innate and adaptive immune responses. Cytokines may modulate the intensity of tissue injury and inflammation in GVHD, and therefore cytokine polymorphisms in either patient or donor or both may explain individual risks of GVHD (review by Petersdorf and Malkki, 2006).

Related symptoms:

  • Diarrhea
  • Abnormality of the liver


SOURCES: ORPHANET OMIM MENDELIAN

More info about GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO; GVHDS

Low match AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA


Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp

Related symptoms:

  • Edema
  • Erythema
  • Pruritus
  • Cirrhosis
  • Eczema


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA

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Other less relevant matches:

Low match PANCREATIC CANCER, SUSCEPTIBILITY TO, 2


PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 Is also known as pnca2

Related symptoms:

  • Neoplasm of the pancreas


SOURCES: OMIM MENDELIAN

More info about PANCREATIC CANCER, SUSCEPTIBILITY TO, 2

Low match HEREDITARY ELLIPTOCYTOSIS


Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

HEREDITARY ELLIPTOCYTOSIS Is also known as he

Related symptoms:

  • Anemia
  • Fatigue
  • Respiratory distress
  • Jaundice
  • Cholelithiasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY ELLIPTOCYTOSIS

Low match TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS


Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.

TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS Is also known as transient infantile hypertriglyceridemia and fatty liver

Related symptoms:

  • Short stature
  • Failure to thrive
  • Hepatomegaly
  • Vomiting
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS

Low match MICROCYTIC ANEMIA WITH LIVER IRON OVERLOAD


Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.

Related symptoms:

  • Anemia
  • Abnormality of metabolism/homeostasis
  • Abnormality of the liver
  • Microcytic anemia
  • Hypochromic microcytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCYTIC ANEMIA WITH LIVER IRON OVERLOAD

Low match CRIGLER-NAJJAR SYNDROME TYPE 2


Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms).

CRIGLER-NAJJAR SYNDROME TYPE 2 Is also known as bilirubin-ugt deficiency type 2|hereditary unconjugated hyperbilirubinemia type 2|ugt deficiency type 2|arias syndrome|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2

Related symptoms:

  • Prolonged neonatal jaundice
  • Neonatal hyperbilirubinemia
  • Unconjugated hyperbilirubinemia


SOURCES: ORPHANET MENDELIAN

More info about CRIGLER-NAJJAR SYNDROME TYPE 2

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21


Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21 Is also known as coxpd21

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypoplasia of the corpus callosum
  • Hypertonia
  • Muscular hypotonia of the trunk


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21

Low match ESSENTIAL FRUCTOSURIA


Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.

ESSENTIAL FRUCTOSURIA Is also known as ketohexokinase deficiency|hepatic fructokinase deficiency|fructokinase deficiency

Related symptoms:

  • Diabetes mellitus
  • Abnormality of the liver
  • Fructose intolerance
  • Impairment of fructose metabolism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ESSENTIAL FRUCTOSURIA

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

Symptoms // Phenotype % cases
Cholelithiasis Uncommon - Between 30% and 50% cases
Hepatic steatosis Rare - less than 30% cases
Anemia Rare - less than 30% cases
Microcytic anemia Rare - less than 30% cases
Increased body weight Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Pancreatitis Abnormality of metabolism/homeostasis Hypochromic microcytic anemia Decreased mean corpuscular volume Erythroid hyperplasia Prolonged neonatal jaundice Neonatal hyperbilirubinemia Diarrhea Unconjugated hyperbilirubinemia Hepatic fibrosis Generalized hypotonia Hypoplasia of the corpus callosum Hypertonia Muscular hypotonia of the trunk Increased serum lactate Limb hypertonia Diabetes mellitus Fructose intolerance Global developmental delay Elevated hepatic transaminase Hypertriglyceridemia Neoplasm of the pancreas Edema Erythema Pruritus Cirrhosis Eczema Cutaneous photosensitivity Decreased liver function Abnormality of the heme biosynthetic pathway Fatigue Abnormality of the cardiovascular system Respiratory distress Jaundice Elliptocytosis Short stature Failure to thrive Hepatomegaly Vomiting Splenomegaly Impairment of fructose metabolism



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