Hepatomegaly, and Osteoporosis

Diseases related with Hepatomegaly and Osteoporosis

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

Top matches:

Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2 Is also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|basd2

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Osteoporosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1 Is also known as basd1|3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency

Related symptoms:

  • Failure to thrive
  • Peripheral neuropathy
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1

Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea

Related symptoms:

  • Short stature
  • Growth delay
  • Pain
  • Hepatomegaly
  • Splenomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE B

Other less relevant matches:

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

Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.

NIEMANN-PICK DISEASE TYPE A Is also known as sphingomyelinase deficiency|sphingomyelin lipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE A

Medium 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

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Top 5 symptoms//phenotypes associated to Hepatomegaly and Osteoporosis

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Jaundice Growth delay Abnormal bleeding Short stature Steatorrhea Global developmental delay Malabsorption Abnormality of the liver Muscle weakness Diarrhea Protuberant abdomen Hepatic steatosis Hepatitis Hepatic failure Rickets Cholestasis

Rare Symptoms - Less than 30% cases

Increased serum ferritin Generalized hypotonia Intellectual disability Hyperuricemia Abnormality of iron homeostasis Arthropathy Vomiting Impotence Hypogonadotrophic hypogonadism Delayed puberty Diabetes mellitus Hypogonadism Congestive heart failure Cardiomyopathy Muscular hypotonia Osteomalacia Areflexia Hyperlipidemia Hypoglycemia Proteinuria Osteopenia Fatigue Fever Pancreatitis Cataract Acidosis Hepatocellular carcinoma Xanthomatosis Microcytic anemia Irritability Constipation Hyporeflexia Hypertension Hyperpigmentation of the skin Foam cells with lamellar inclusion bodies Decreased liver function Neonatal cholestatic liver disease Diffuse reticular or finely nodular infiltrations Giant cell hepatitis Hypocholesterolemia Portal fibrosis Pain Thrombocytopenia Recurrent respiratory infections Biliary tract abnormality Intrahepatic cholestasis Abnormality of the coagulation cascade Peripheral neuropathy Sea-blue histiocytosis Bone-marrow foam cells Hyperbilirubinemia Elevated alkaline phosphatase Dry skin Visual impairment Aminoaciduria Oral ulcer Nystagmus Decreased glomerular filtration rate Increased body weight Abdominal distention Strabismus Sensorineural hearing impairment Metabolic acidosis Nephropathy Hyperlordosis Flat face Dysarthria Lipemia retinalis Wide nasal bridge Severe short stature Malar flattening Obesity Xanthelasma Rod-cone dystrophy Esodeviation Abnormal electroretinogram Depressed nasal ridge Polyneuropathy Single transverse palmar crease Retinal dystrophy Very long chain fatty acid accumulation Hypercalciuria Gout Impairment of galactose metabolism Chronic acidosis Renal tubular dysfunction Ketonuria Galactose intolerance Ataxia Hyperphosphaturia Fasting hypoglycemia Microalbuminuria Ketosis Generalized aminoaciduria Hypouricemia Hypergalactosemia Hyperuricosuria Galactosuria Mild proteinuria Albuminuria Seizures Poor appetite Hypercholesterolemia Inflammation of the large intestine Enlarged kidney Hypokalemia Polydipsia Hyperglycemia Focal segmental glomerulosclerosis Polyuria Bowing of the legs Hypophosphatemia Renal tubular acidosis Recurrent bacterial infections Nephrolithiasis Neutropenia Reduced subcutaneous adipose tissue Glycosuria Lactic acidosis Recurrent infections Hypertelorism Abnormality of the skeletal system Hearing impairment Amenorrhea Arrhythmia Abdominal pain Arthritis Dilated cardiomyopathy Lethargy Infertility Azoospermia Increased LDL cholesterol concentration Portal hypertension Generalized hyperpigmentation Congenital hepatic fibrosis Increased serum iron Abnormality of the anterior pituitary Elevated transferrin saturation Abnormality of endocrine pancreas physiology Abnormal macular morphology Histiocytosis Rigidity Acholic stools Prolonged prothrombin time Hypertyrosinemia Chronic hepatic failure Nyctalopia Pruritus Gastrointestinal hemorrhage Abnormality of coagulation Pneumonia Decreased HDL cholesterol concentration Dyspnea Neurodegeneration Hypertriglyceridemia Abnormal lung morphology Back pain Interstitial pulmonary abnormality Abnormal heart valve morphology Spasticity Feeding difficulties in infancy Abnormality of the hypothalamus-pituitary axis Arthralgia Hypochromic microcytic anemia Decreased mean corpuscular volume Abnormal hemoglobin Hypochromic anemia Abnormality of temperature regulation Reduced beta/alpha synthesis ratio Alopecia Retinopathy Anemia of inadequate production Vertigo Ascites Limitation of joint mobility Gynecomastia Joint dislocation Exocrine pancreatic insufficiency Chondrocalcinosis Poikilocytosis Anisocytosis Respiratory tract infection Respiratory insufficiency Lymphadenopathy Sleep disturbance Athetosis Prolonged neonatal jaundice Cherry red spot of the macula Anemia Feeding difficulties Delayed skeletal maturation Abnormality of the skull Hypertrophic cardiomyopathy Pallor Postural instability Skin ulcer Venous thrombosis Reduced bone mineral density Cholelithiasis Doll-like facies


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