Abnormality of the skeletal system, and Hepatic steatosis

Diseases related with Abnormality of the skeletal system and Hepatic steatosis

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Hepatic steatosis 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 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 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL; PCKDM


PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL; PCKDM Is also known as pepck2 deficiency|pck2 deficiency

Related symptoms:

  • Acidosis
  • Hypoglycemia
  • Lactic acidosis
  • Hepatic failure
  • Hepatic steatosis


SOURCES: OMIM MESH MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL; PCKDM

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Other less relevant matches:

Low match ACUTE FATTY LIVER OF PREGNANCY


Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.

ACUTE FATTY LIVER OF PREGNANCY Is also known as aflp

Related symptoms:

  • Pain
  • Fatigue
  • Vomiting
  • Headache
  • Jaundice


SOURCES: ORPHANET MESH MENDELIAN

More info about ACUTE FATTY LIVER OF PREGNANCY

Low match HYPERCHOLESTEROLEMIA DUE TO CHOLESTEROL 7ALPHA-HYDROXYLASE DEFICIENCY


Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a rare, genetic, sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertrigliceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.

Related symptoms:

  • Obesity
  • Hepatic steatosis
  • Hepatitis
  • Hypertriglyceridemia
  • Cholestasis


SOURCES: ORPHANET MENDELIAN

More info about HYPERCHOLESTEROLEMIA DUE TO CHOLESTEROL 7ALPHA-HYDROXYLASE DEFICIENCY

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 CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY


Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.

CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY Is also known as transcortin deficiency|cbg deficiency

Related symptoms:

  • Pain
  • Hypertension
  • Fatigue
  • Abnormality of metabolism/homeostasis
  • Depressivity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19


Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19

Low match INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY


Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.

INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY Is also known as combined oxidative phosphorylation defect type 16|coxpd16

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Headache
  • Elevated hepatic transaminase
  • Hypertrophic cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY

Low match TMEM199-CDG


Congenital disorder of glycosylation type IIp (CDG2P) is an autosomal recessive metabolic disorder characterized by mild liver dysfunction, which may be found incidentally during adolescence. Laboratory abnormalities include elevated liver enzymes and alkaline phosphatase, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For an overview of congenital disorders of glycosylation, see CDG1A (OMIM ) and CDG2A (OMIM ).

TMEM199-CDG Is also known as cdgiip|cdg-iip|cdg2p|congenital disorder of glycosylation type iip|carbohydrate deficient glycoprotein syndrome type iip|congenital disorder of glycosylation type 2p|cdg syndrome type iip|cdg iip

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Elevated hepatic transaminase
  • Hepatic steatosis
  • Decreased liver function


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM199-CDG

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

Symptoms // Phenotype % cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Pain Rare - less than 30% cases
Microvesicular hepatic steatosis Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Hypoglycemia Lactic acidosis Hepatic failure Headache Fatigue Increased serum lactate Jaundice Increased LDL cholesterol concentration Confusion Hypercholesterolemia Acidosis Acute hepatic steatosis Cholestasis Hypertriglyceridemia Hepatomegaly Global developmental delay Growth delay Vomiting Abnormality of the liver Respiratory distress Abnormality of metabolism/homeostasis Hypotension Depressivity Asthenia Feeding difficulties Increased circulating cortisol level Chronic fatigue Chronic pain Increased muscle fatiguability Short stature Gastroesophageal reflux Abnormality of mitochondrial metabolism Abnormal protein N-linked glycosylation Decreased serum ceruloplasmin Abnormality of the mitochondrion Elevated alkaline phosphatase Decreased liver function Decreased activity of mitochondrial respiratory chain Cardiomegaly Neonatal hypotonia Paralysis Respiratory tract infection Hypertrophic cardiomyopathy Congestive heart failure Cardiomyopathy Severe lactic acidosis Hypertension Accelerated atherosclerosis Conjugated hyperbilirubinemia Nausea Splenomegaly Abnormality of the cardiovascular system Hepatic fibrosis Increased body weight Pancreatitis Hypoplasia of the corpus callosum Hypertonia Muscular hypotonia of the trunk Limb hypertonia Renal steatosis Impaired gluconeogenesis Nausea and vomiting Coma Abnormality of the coagulation cascade Obesity Hepatitis Coronary artery atherosclerosis Macrovesicular hepatic steatosis Cholesterol gallstones Aortic atherosclerosis Abnormality of vitamin E metabolism Abnormality of vitamin A metabolism Intrauterine growth retardation Cirrhosis Ascites Hyperbilirubinemia Hypoalbuminemia Abnormal protein O-linked glycosylation



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