Hepatomegaly, and Hypogonadism

Diseases related with Hepatomegaly and Hypogonadism

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

Top matches:

Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (OMIM ). HFE2 is genetically heterogeneous (see HFE2A, {602390}).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM MESH MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 2B; HFE2B

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.

SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS Is also known as severe congenital hypochromic sideroblastic anemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS

COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT Is also known as syndromic sensorineural deafness due to coxpd|syndromic sensorineural hearing loss due to coxpd

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT

Other less relevant matches:

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 Is also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid|trihydroxycoprostanic acid in bile

Related symptoms:

  • Failure to thrive
  • Epicanthus
  • Hepatomegaly
  • Frontal bossing
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4

Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

High match BETA-THALASSEMIA

Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-THALASSEMIA

Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Related symptoms:

  • Short stature
  • Ataxia
  • Failure to thrive
  • Visual impairment
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hypogonadism

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Cirrhosis Common - Between 50% and 80% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Increased serum ferritin Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Fatigue Osteoporosis Failure to thrive Abnormality of the liver Congestive heart failure Cardiomyopathy Increased serum iron Hepatic failure Ataxia Hyperpigmentation of the skin Hypogonadotrophic hypogonadism Impotence Abnormality of iron homeostasis Arthropathy Hepatic steatosis Diabetes mellitus Irritability Hepatitis Cholestasis Hypergonadotropic hypogonadism Alopecia Azoospermia

Rare Symptoms - Less than 30% cases

Dilated cardiomyopathy Abdominal pain Arrhythmia Pain Muscle weakness Fat malabsorption Steatorrhea Photophobia Lethargy Amenorrhea Elevated transferrin saturation Diarrhea Osteopenia Osteomalacia Peripheral neuropathy Arthralgia Retinopathy Ascites Hepatocellular carcinoma Visual impairment Tremor Skin ulcer Arthritis Decreased mean corpuscular volume Epicanthus Abnormality of the hypothalamus-pituitary axis Poikilocytosis Hypochromic microcytic anemia Pallor Encephalopathy Growth delay Hepatosplenomegaly Microcytic anemia Frontal bossing Vomiting Malabsorption Depressivity Hypochromic anemia Jaundice Cardiomegaly Carcinoma Decreased taste sensation Psoriasiform dermatitis Telangiectasia Neoplasm Hepatic fibrosis Insulin resistance Pleural effusion Abnormal joint morphology Recurrent infections Agitation Recurrent candida infections Sensorimotor neuropathy Sensory impairment Migraine Pigmentary retinopathy Type II diabetes mellitus Status epilepticus Intention tremor Hemiparesis Low alkaline phosphatase Biliary tract abnormality Bilateral single transverse palmar creases Paraparesis Spastic paraparesis Apathy Paronychia Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Pericarditis Restrictive cardiomyopathy Increased reactive oxygen species production Pustule Hypotrichosis Dry skin Corneal erosion Abnormal eyebrow morphology Polyneuropathy Blepharitis Alopecia of scalp Poor appetite Nail dystrophy Decreased testicular size Emotional lability Abnormal blistering of the skin Inflammatory abnormality of the skin Chronic diarrhea Anorexia Conjunctivitis Furrowed tongue Ridged nail Acute hepatic failure Microvesicular hepatic steatosis Neoplasm of the liver Ridged fingernail Testicular atrophy Glossitis Alcoholism Abnormal glucose tolerance Decreased testosterone in males Cholangiocarcinoma Cheilitis Constrictive pericarditis Aceruloplasminemia Short stature Impaired T cell function Cerebral cortical atrophy Weight loss Erythema Coma Abnormality of temperature regulation Sensory neuropathy Hypertension Single transverse palmar crease Hyperbilirubinemia Abnormality of the coagulation cascade Prolonged neonatal jaundice Intrahepatic cholestasis Giant cell hepatitis Delayed puberty Congenital sensorineural hearing impairment Infertility Portal hypertension Generalized hyperpigmentation Congenital hepatic fibrosis Abnormality of the anterior pituitary Abnormality of endocrine pancreas physiology Primary adrenal insufficiency Decreased liver function Fever Decreased transferrin saturation Hypothyroidism Cafe-au-lait spot Adrenal insufficiency Reticulocytopenia Anisopoikilocytosis Elevated hepatic iron concentration Dysplastic erythropoesis Pancytopenia Hearing impairment Sensorineural hearing impairment Renal insufficiency Hypoglycemia Lactic acidosis Increased serum lactate Feeding difficulties Abnormality of the skeletal system Distal sensory impairment Headache Seizures Global developmental delay Cataract Spasticity Dysarthria Optic atrophy Rod-cone dystrophy Exocrine pancreatic insufficiency Gait ataxia Mental deterioration Confusion Unsteady gait Peripheral axonal neuropathy Nausea Chondrocalcinosis Joint dislocation Respiratory insufficiency Cholelithiasis Thrombocytopenia Delayed skeletal maturation Hypertrophic cardiomyopathy Postural instability Venous thrombosis Reduced bone mineral density Abnormality of the skull Gynecomastia Anisocytosis Anemia of inadequate production Portal fibrosis Abnormal hemoglobin Reduced beta/alpha synthesis ratio Vertigo Limitation of joint mobility Increased serum zinc


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