Hepatomegaly, and Hyperinsulinemia

Diseases related with Hepatomegaly and Hyperinsulinemia

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

Top matches:

HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.

HYPERINSULINISM DUE TO HNF1A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf1a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF1A DEFICIENCY

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Other less relevant matches:

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as dominant katp hyperinsulinism due to kir6.2 deficiency|autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.

OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY Is also known as pomc deficiency|proopiomelanocortin deficiency

Related symptoms:

  • Seizures
  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Obesity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY

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

High match MPI-CDG

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

MPI-CDG Is also known as cdg-ib|cdg, gastrointestinal type|congenital disorder of glycosylation type ib|carbohydrate deficient glycoprotein syndrome type ib|saguenay-lac saint-jean syndrome|mpi deficiency|slsj syndrome|phosphomannose isomerase deficiency|cdg ib|cdgib|protein-losi

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MPI-CDG

Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term).

HYPERINSULINISM DUE TO HNF4A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf4a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF4A DEFICIENCY

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hyperinsulinemia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hyperinsulinemic hypoglycemia Common - Between 50% and 80% cases
Neonatal hypoglycemia Common - Between 50% and 80% cases
Coma Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Diarrhea

Uncommon Symptoms - Between 30% and 50% cases

Hyperhidrosis Pallor Lethargy Tachycardia Abnormality of fatty-acid metabolism Progressive neurologic deterioration Large for gestational age Agitation Drowsiness Hypoketotic hypoglycemia Pancreatic islet-cell hyperplasia Acanthosis nigricans Global developmental delay Hepatic steatosis Cognitive impairment Vitamin B1 deficiency Decreased circulating cortisol level Hypertriglyceridemia Insulin resistance Lipodystrophy Intellectual disability Tremor Secondary growth hormone deficiency Hypertension Increased body weight Cirrhosis

Rare Symptoms - Less than 30% cases

Reduced subcutaneous adipose tissue Epidermal acanthosis Myopathy Pancreatitis Polycystic ovaries Coronary artery atherosclerosis Hyperglycemia Generalized hirsutism Lipoatrophy Abnormality of the musculature Insulin-resistant diabetes mellitus Xanthomatosis Loss of subcutaneous adipose tissue in limbs Loss of gluteal subcutaneous adipose tissue Prominent superficial veins Diabetes mellitus Abnormal brain FDG positron emission tomography Obesity Hypoglycemia Neonatal hypotonia Hepatic failure Fatigue Elevated hepatic transaminase Failure to thrive Fasting hypoglycemia Microcephaly Tetraparesis Brisk reflexes Status epilepticus Neuronal loss in central nervous system Sleep disturbance Abnormal pyramidal sign Respiratory tract infection Limb dystonia Developmental regression Hyperuricemia Coarse facial features Mental deterioration Respiratory insufficiency Increased hepatic glycogen content Metabolic ketoacidosis Ataxia Spasticity Delayed speech and language development Hyperreflexia Cerebellar atrophy Gait ataxia Hypertonia Dystonia Cerebral atrophy Encephalopathy Myoclonus Hyperactivity Respiratory failure Loss of speech Abnormality of skeletal muscle fiber size Progressive encephalopathy Amenorrhea Preeclampsia Infertility Maternal diabetes Hypophosphatemic rickets Oligomenorrhea Hirsutism Myocardial infarction Decreased HDL cholesterol concentration Primary amenorrhea Thin skin Abnormality of the face Atherosclerosis Skeletal muscle hypertrophy Aplasia/Hypoplasia of the skin Abnormality of the neck Hypertrophic cardiomyopathy Generalized lipodystrophy Prominent veins on trunk Secondary amenorrhea Progressive psychomotor deterioration Caudate atrophy Poor motor coordination Reduced intraabdominal adipose tissue Congestive heart failure Eclampsia Hyperlipoproteinemia Loss of facial adipose tissue Splenomegaly Dysmenorrhea Hepatosplenomegaly Calf muscle pseudohypertrophy Myalgia Renal Fanconi syndrome Apnea Glycosuria Gonadotropin deficiency Acute pancreatitis Abdominal obesity Ketoacidosis Truncal obesity Glucose intolerance Hypercholesterolemia Hyperlipidemia Abnormality of the cardiovascular system Abnormal eating behavior Childhood-onset truncal obesity Increased adipose tissue Central adrenal insufficiency Hypoglycemic seizures Red hair Adrenocorticotropic hormone deficiency Premature coronary artery atherosclerosis Hypopigmentation of the skin Growth delay Delayed skeletal maturation Agenesis of corpus callosum Weight loss Acidosis Delayed puberty Growth hormone deficiency Pituitary hypothyroidism Cholestasis Hyperbilirubinemia Hyponatremia Adrenal insufficiency Polyphagia Adrenal hypoplasia Absence of subcutaneous fat Increased adipose tissue around the neck Elevated alkaline phosphatase Hypoproteinemia Proteinuria Lymphangiectasis Reduced factor XI activity Reduced antithrombin III activity Secretory diarrhea Intestinal lymphangiectasia Microvesicular hepatic steatosis Type I transferrin isoform profile Enterocolitis Abnormal thrombosis Protein-losing enteropathy Congenital hepatic fibrosis Generalized edema Villous atrophy Abnormality of the coagulation cascade Eruptive xanthomas Abnormality of the liver Increased facial adipose tissue Increased subcutaneous truncal adipose tissue Generalized hypotonia Muscular hypotonia Anemia Edema Malabsorption Hypoalbuminemia Abnormal bleeding Gastrointestinal hemorrhage Chronic diarrhea Lymphedema Hepatic fibrosis Abnormal intestine morphology Marked muscular hypertrophy


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