Hepatomegaly, and Diabetes mellitus

Diseases related with Hepatomegaly and Diabetes mellitus

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

Top matches:

Adult onset autosomal recessive sideroblastic anemia or GLRX5-related sideroblastic anemia is a very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.

ADULT-ONSET AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA Is also known as glrx5-related sideroblastic anemia

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Jaundice
  • Hepatosplenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA

AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as akt2-related fpld

Related symptoms:

  • Hepatomegaly
  • Hepatic steatosis
  • Hypertriglyceridemia
  • Insulin resistance
  • Acanthosis nigricans


SOURCES: ORPHANET MENDELIAN

More info about AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4 Is also known as frts4 with mody

Related symptoms:

  • Short stature
  • Hepatomegaly
  • Diabetes mellitus
  • Acidosis
  • Hypoglycemia


SOURCES: OMIM MENDELIAN

More info about FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4

Other less relevant matches:

CIDEC-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as lipodystrophy, familial partial, associated with cidec mutations|fpld5|cidec-related fpld

Related symptoms:

  • Hepatomegaly
  • Diabetes mellitus
  • Hepatic steatosis
  • Epidermal acanthosis
  • Hypertriglyceridemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CIDEC-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Familial partial lipodystrophy-6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017).

LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as fpld6|lipe-related fpld|lipodystrophy, familial partial, associated with lipe mutations

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM ORPHANET MENDELIAN

More info about LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer|lcc|childhood-onset hcc|hcc|liver cell carcinoma|hepatoma|cancer, hepatocellular|childhood-onset hepatocellular carcinoma|pediatric hcc

Related symptoms:

  • Microcephaly
  • Neoplasm
  • Cryptorchidism
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.

FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE Is also known as fpld1|familial partial lipodystrophy type 1|lipodystrophy, familial partial, kobberling type

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Obesity
  • Diabetes mellitus
  • Hepatic steatosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE

Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.

HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION Is also known as hypertrophic cardiomyopathy and renal tubular disease due to mtdna mutation

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION

Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY Is also known as cd25 deficiency|interleukin 2 receptor, alpha, deficiency of|interleukin-2 receptor alpha chain deficiency|il2ra deficiency

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Respiratory insufficiency
  • Diarrhea
  • Splenomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Diabetes mellitus

Symptoms // Phenotype % cases
Hepatic steatosis Uncommon - Between 30% and 50% cases
Insulin-resistant diabetes mellitus Uncommon - Between 30% and 50% cases
Lipodystrophy Uncommon - Between 30% and 50% cases
Polycystic ovaries Uncommon - Between 30% and 50% cases
Hyperlipidemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Acanthosis nigricans Hypertriglyceridemia Decreased adiponectin level Insulin resistance Anemia Decreased serum leptin Loss of subcutaneous adipose tissue in limbs Loss of gluteal subcutaneous adipose tissue Oligomenorrhea

Rare Symptoms - Less than 30% cases

Short stature Proteinuria Increased intraabdominal fat Epidermal acanthosis Pancreatitis Abnormality of lipid metabolism Marked muscular hypertrophy Obesity Abdominal obesity Increased adipose tissue around the neck Cirrhosis Type II diabetes mellitus Splenomegaly Elevated hepatic transaminase Hepatosplenomegaly Focal segmental glomerulosclerosis Glomerulopathy Tubular atrophy Increased CSF lactate Sensorineural hearing impairment Abnormal renal physiology Peripheral edema Xanthomatosis Abnormal mitochondrial morphology Abnormal mitochondrial shape Global glomerulosclerosis Abnormal mitochondrial number Tubulointerstitial fibrosis Pleural effusion Hearing impairment Premature coronary artery atherosclerosis Increased subcutaneous truncal adipose tissue Increased facial adipose tissue Renal insufficiency Respiratory insufficiency Eruptive xanthomas Dyspnea Hypertrophic cardiomyopathy Acute pancreatitis Abnormality of the kidney Nephropathy Hematuria Cardiomegaly Left ventricular hypertrophy Ragged-red muscle fibers Absence of subcutaneous fat Headache Abnormal lung morphology Diarrhea Chronic lung disease Thyroiditis Iron deficiency anemia Atopic dermatitis Gingivitis Antinuclear antibody positivity Esophagitis Recurrent viral infections Autoimmune hemolytic anemia Villous atrophy Immune dysregulation Decrease in T cell count Bronchiolitis Recurrent fungal infections Granulocytopenia IgA deficiency Increased antibody level in blood Immunodeficiency Lymphadenopathy Recurrent infections Alopecia Pneumonia Recurrent respiratory infections Hypothyroidism Respiratory tract infection Hemolytic anemia Psoriasiform dermatitis Eczema Inflammatory abnormality of the skin Ketoacidosis Chronic diarrhea Type I diabetes mellitus Recurrent bacterial infections Abnormal intestine morphology Prominent superficial veins Embryonal neoplasm Abnormality of the musculature Myopathy Hyperphosphaturia Hypouricemia Calf muscle hypertrophy Loss of facial adipose tissue Muscle weakness Skeletal muscle atrophy Elevated serum creatine phosphokinase Glycosuria Proximal muscle weakness Muscular dystrophy Difficulty climbing stairs Reduced subcutaneous adipose tissue Menstrual irregularities Proximal muscle weakness in lower limbs Neonatal hypoglycemia Large for gestational age Abnormality of the labia majora Sideroblastic anemia Jaundice Microcytic anemia Increased serum ferritin Anisocytosis Conjugated hyperbilirubinemia Decreased mean corpuscular volume Erythroid hyperplasia Rickets Elevated hepatic iron concentration Acidosis Hypoglycemia Metabolic acidosis Nephrocalcinosis Aminoaciduria Proximal muscle weakness in upper limbs Microcephaly Lipoatrophy Hypertension Giant cell hepatitis Epigastric pain Portal vein thrombosis Hepatic necrosis Viral hepatitis Subacute progressive viral hepatitis Abnormality of the cardiovascular system Chronic infection Hypercholesterolemia Hyperinsulinemia Hyperglycemia Glucose intolerance Coronary artery atherosclerosis Truncal obesity Elevated alpha-fetoprotein Chronic hepatitis Neoplasm Abnormality of the liver Cryptorchidism Motor delay Fatigue Vomiting Abdominal pain Carcinoma Hepatitis Hepatoblastoma Hepatic fibrosis Hepatocellular carcinoma Thrombocytosis Neoplasm of the liver Hypertyrosinemia Micronodular cirrhosis Chronic hemolytic anemia


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