Hepatomegaly, and Abnormality of the genital system

Diseases related with Hepatomegaly and Abnormality of the genital system

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Abnormality of the genital system 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 PYRIDOXINE-DEPENDENT EPILEPSY


Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

PYRIDOXINE-DEPENDENT EPILEPSY Is also known as antiquitin deficiency|vitamin b6-dependent seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about PYRIDOXINE-DEPENDENT EPILEPSY

Low match HEMOCHROMATOSIS, TYPE 2B; HFE2B


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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6


IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 Is also known as antibody deficiency due to cd81 defect

Related symptoms:

  • Hepatomegaly
  • Renal insufficiency
  • Immunodeficiency
  • Thrombocytopenia
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6

Low match AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


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

Low match SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS


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

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV


Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Low match SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT


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

Low match CIDEC-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


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

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0


Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Top 5 symptoms//phenotypes associated to Hepatomegaly and Abnormality of the genital system

Symptoms // Phenotype % cases
Anemia Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatic steatosis Uncommon - Between 30% and 50% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Hepatomegaly and Abnormality of the genital system. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertriglyceridemia Renal insufficiency Pancreatitis

Rare Symptoms - Less than 30% cases


Thrombocytopenia Cardiomyopathy Increased serum ferritin Increased serum iron Short stature Growth delay Decreased adiponectin level Failure to thrive Oligomenorrhea Insulin-resistant diabetes mellitus Lipodystrophy Polycystic ovaries Decreased serum leptin Hyperlipidemia Acanthosis nigricans Global developmental delay Vomiting Muscular hypotonia Intellectual disability Micropenis Hypertrophic cardiomyopathy Hydrops fetalis Wide anterior fontanel Hepatic failure Hyperbilirubinemia Lactic acidosis Hearing impairment Reticulocytosis Hypoglycemia Anemia of inadequate production Encephalopathy Fetal distress Sensorineural hearing impairment Normochromic anemia Congenital hypoplastic anemia Erythroid hyperplasia Calf muscle hypertrophy Increased serum lactate Optic atrophy Hemiplegia/hemiparesis Hyperammonemia Choreoathetosis Chorea Sepsis Coma Neutropenia Nausea and vomiting Lethargy Dystonia Respiratory distress Marked muscular hypertrophy Pancytopenia Loss of gluteal subcutaneous adipose tissue Loss of facial adipose tissue Loss of subcutaneous adipose tissue in limbs Abnormality of lipid metabolism Edema Epidermal acanthosis Diabetes mellitus Primary adrenal insufficiency Congenital sensorineural hearing impairment Hypergonadotropic hypogonadism Decreased liver function Hypospadias Azoospermia Hypertelorism Neurological speech impairment Arthralgia Recurrent respiratory infections Immunodeficiency Abnormality of iron homeostasis Cirrhosis Congestive heart failure Status epilepticus Abnormality of movement EEG abnormality Skin rash Cerebral cortical atrophy Abnormality of metabolism/homeostasis Ventriculomegaly Strabismus Seizures Increased body weight Hepatic fibrosis Abnormality of the cardiovascular system Abnormality of the liver Proteinuria Decreased antibody level in blood Dysplastic erythropoesis Microcytic anemia Decreased transferrin saturation Elevated hepatic iron concentration Anisopoikilocytosis Hypochromic anemia Reticulocytopenia Decreased mean corpuscular volume Hypochromic microcytic anemia Poikilocytosis Abnormality of the hypothalamus-pituitary axis Adrenal insufficiency Recurrent bacterial infections Cafe-au-lait spot Pallor Hepatosplenomegaly Hypothyroidism Fatigue Increased intraabdominal fat Insulin resistance Glomerulonephritis Purpura Renal tubular dysfunction



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Migraine, related diseases and genetic alterations Delayed speech and language development and Retrognathia, related diseases and genetic alterations Obesity and Encephalocele, related diseases and genetic alterations Micrognathia and Alzheimer disease, related diseases and genetic alterations Sensorineural hearing impairment and Tetralogy of Fallot, related diseases and genetic alterations Hearing impairment and Subcutaneous nodule, related diseases and genetic alterations Hypertelorism and Intrauterine growth retardation, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more