Abnormality of the skeletal system, and Elevated hepatic transaminase

Diseases related with Abnormality of the skeletal system and Elevated hepatic transaminase

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


Top matches:

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 SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY


Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease|pap, reunion island type|pulmonary alveolar proteinosis, reunion island type|hereditary pulmonary alveolar proteinosis with hepatic involvement

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Vomiting
  • Encephalopathy
  • Jaundice


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

Low match PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP


X-linked erythropoietic protoporphyria (XLEPP) is a metabolic disorder of heme biosynthesis characterized by onset in early childhood of severe photosensitivity associated with decreased iron stores and increased erythrocyte zinc- and metal-free protoporphyrin. Some patients may develop liver disease or gallstones (summary by Ducamp et al., 2013).For a discussion of genetic heterogeneity of erythropoietic protoporphyria, see EPP1 (OMIM ).

PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP Is also known as protoporphyria, erythropoietic, x-linked dominant|xldpp|erythrohepatic protoporphyria, x-linked

Related symptoms:

  • Anemia
  • Elevated hepatic transaminase
  • Abnormality of the liver
  • Cutaneous photosensitivity
  • Cholelithiasis


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP

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Other less relevant matches:

Low match CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1


Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by Pasmant et al., 2012). Genetic Heterogeneity of Intrahepatic Cholestasis of PregnancySee also ICP3 (OMIM ), caused by mutation in the ABCB4 gene (OMIM ).

CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1 Is also known as cholestasis, pregnancy-related, 1

Related symptoms:

  • Jaundice
  • Elevated hepatic transaminase
  • Abnormality of the liver
  • Pruritus
  • Premature birth


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1

Low match HYPERMETHIONINEMIA DUE TO GLYCINE N-METHYLTRANSFERASE DEFICIENCY


Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine.

HYPERMETHIONINEMIA DUE TO GLYCINE N-METHYLTRANSFERASE DEFICIENCY Is also known as glycine n-methyltransferase deficiency|gnmt deficiency|hypermethioninemia due to gnmt deficiency

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Elevated hepatic transaminase
  • Respiratory tract infection
  • Abnormality of the liver


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPERMETHIONINEMIA DUE TO GLYCINE N-METHYLTRANSFERASE DEFICIENCY

Low match GLYCOGEN STORAGE DISEASE IXA1; GSD9A1


Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB ), gamma (PHKG2 ), and delta (CALM1 ). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B (OMIM ), and GSD9C (OMIM ), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive.GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (Keating et al., 1985; Hendrickx et al., 1994; Beauchamp et al., 2007).See also X-linked muscle PHK deficiency (GSD9D ), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1 ).

GLYCOGEN STORAGE DISEASE IXA1; GSD9A1 Is also known as glycogen storage disease viii, formerly|gsd8, formerly|gsd viii, formerly|liver glycogenosis, x-linked, type i|xlg1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXA1; GSD9A1

Low match 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY


3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.

3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY Is also known as hmgcs2 deficiency|hmg-coa synthase deficiency|mitochondrial hmg-coa synthase deficiency

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6


Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by Gaignard et al., 2013).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Encephalopathy
  • Acidosis
  • Elevated hepatic transaminase
  • Lactic acidosis
  • Hepatic failure


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6

Low match SEVERE EARLY-ONSET OBESITY-INSULIN RESISTANCE SYNDROME DUE TO SH2B1 DEFICIENCY


Related symptoms:

  • Short stature
  • Delayed speech and language development
  • Obesity
  • Elevated hepatic transaminase
  • Aggressive behavior


SOURCES: ORPHANET MENDELIAN

More info about SEVERE EARLY-ONSET OBESITY-INSULIN RESISTANCE SYNDROME DUE TO SH2B1 DEFICIENCY

Low match INTRAHEPATIC CHOLESTASIS OF PREGNANCY


Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.

INTRAHEPATIC CHOLESTASIS OF PREGNANCY Is also known as pregnancy-related cholestasis|gravidic intrahepatic cholestasis|recurrent intrahepatic cholestasis of pregnancy

Related symptoms:

  • Pain
  • Jaundice
  • Elevated hepatic transaminase
  • Abnormality of the liver
  • Pruritus


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTRAHEPATIC CHOLESTASIS OF PREGNANCY

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Elevated hepatic transaminase

Symptoms // Phenotype % cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Encephalopathy 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 Elevated hepatic transaminase. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypoglycemia Jaundice Vomiting

Rare Symptoms - Less than 30% cases


Pruritus Hypertriglyceridemia Cholestasis Intrahepatic cholestasis Hyperglycemia Cholelithiasis Fetal distress Abnormal liver function tests during pregnancy Increased serum bile acid concentration during pregnancy Acute hepatic failure Hyperammonemia Hepatic failure Hyperlipidemia Premature birth Coma Seizures Lactic acidosis Increased serum lactate Acidosis Hypoglycemic coma Respiratory arrest Hypoketotic hypoglycemia Recurrent hypoglycemia Metabolic ketoacidosis Progressive neurologic deterioration Abnormality of mitochondrial metabolism Ketoacidosis Episodic ketoacidosis Diarrhea Delayed speech and language development Obesity Aggressive behavior Hyperinsulinemia Polyphagia Impaired social interactions No social interaction Pain Cholestatic liver disease Cholangitis Abnormality of metabolism/homeostasis Febrile seizures Ketosis Anemia Splenomegaly Hepatic steatosis Abnormality of the cardiovascular system Hepatic fibrosis Increased body weight Pancreatitis Cardiomyopathy Lethargy Abnormality of the coagulation cascade Abnormality of the gastrointestinal tract Hepatic encephalopathy Cutaneous photosensitivity Hyperuricemia Iron deficiency anemia Severe photosensitivity Increased erythrocyte protoporphyrin concentration Respiratory tract infection Hypertyrosinemia Hypermethioninemia Intellectual disability Global developmental delay Growth delay Motor delay Decreased liver function Hypercholesterolemia Cholesterol gallstones



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