Obesity, and Hepatocellular carcinoma

Diseases related with Obesity and Hepatocellular carcinoma

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


Top matches:

High match PEDIATRIC HEPATOCELLULAR CARCINOMA


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

High match CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2


Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency

Related symptoms:

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

Medium match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

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Other less relevant matches:

Medium match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2


Related symptoms:

  • Short stature
  • Neoplasm
  • Failure to thrive
  • Hepatomegaly
  • Diarrhea


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

Medium match BUDD-CHIARI SYNDROME


Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BUDD-CHIARI SYNDROME

Medium match ALPHA-1-ANTITRYPSIN DEFICIENCY


Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.

ALPHA-1-ANTITRYPSIN DEFICIENCY Is also known as deficiency in alpa-1-proteinase inhibitor

Related symptoms:

  • Neoplasm
  • Hypertension
  • Hepatomegaly
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-1-ANTITRYPSIN DEFICIENCY

Medium match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1


Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

Medium match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Medium match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Medium match ACUTE INTERMITTENT PORPHYRIA


Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

ACUTE INTERMITTENT PORPHYRIA Is also known as ups deficiency|porphyria, swedish type|pbgd deficiency|porphobilinogen deaminase deficiency|uroporphyrinogen synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACUTE INTERMITTENT PORPHYRIA

Top 5 symptoms//phenotypes associated to Obesity and Hepatocellular carcinoma

Symptoms // Phenotype % cases
Carcinoma Very Common - Between 80% and 100% cases
Hepatomegaly Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Abnormality of the liver Common - Between 50% and 80% cases
Cirrhosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Obesity and Hepatocellular carcinoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cholestasis Diarrhea Splenomegaly Weight loss Failure to thrive Coma Jaundice Hepatic failure Elevated hepatic transaminase Hepatitis Vomiting Abdominal pain Hepatic fibrosis Hepatosplenomegaly Hypertension Fatigue Anemia Seizures Hepatic steatosis Intrahepatic cholestasis Pruritus Growth delay Psychosis Nausea Short stature Neoplasm of the liver Pain

Rare Symptoms - Less than 30% cases


Fat malabsorption Delirium Intellectual disability Intermittent jaundice Conjugated hyperbilirubinemia Anxiety Dysarthria Thrombocytopenia Depressivity Arthralgia Paresthesia Esophageal varix Acute hepatic failure Hemolytic anemia Ascites Clumsiness Involuntary movements Global developmental delay Leukoencephalopathy Fever Nausea and vomiting Insomnia Confusion Giant cell hepatitis Chronic hepatitis Sepsis Portal vein thrombosis Thrombocytosis Tremor Aggressive behavior Lethargy Edema Portal hypertension Decreased liver function Hallucinations Pancreatitis Fulminant hepatic failure Chronic obstructive pulmonary disease Severe short stature Recurrent infections Immunodeficiency Decreased body weight Pes cavus Areflexia Sensorineural hearing impairment Elbow flexion contracture Lipodystrophy Cognitive impairment Panniculitis Thoracic kyphoscoliosis Premature graying of hair Hearing impairment Subcapsular cataract Triangular face Posterior subcapsular cataract Thoracic kyphosis Down-sloping shoulders Rod-cone dystrophy Ophthalmoplegia Single transverse palmar crease Frontal bossing Micrognathia Intrahepatic cholestasis with episodic jaundice Increased serum bile acid concentration Neurodegeneration Civatte bodies Vitamin E deficiency Flexion contracture Steatorrhea Skeletal muscle atrophy Malnutrition Congenital sensorineural hearing impairment Bulbous nose Kyphosis Pectus excavatum Hyperbilirubinemia Neuronal loss in central nervous system Clinodactyly Delayed skeletal maturation Kyphoscoliosis Cataract Pes planus Deeply set eye Prominent nasal bridge Autoimmunity Microcephaly Neutropenia Cranial nerve paralysis Constipation Hyperhidrosis Myalgia Paralysis Stage 5 chronic kidney disease Tachycardia Nephropathy Abdominal distention Urinary incontinence Cutaneous photosensitivity Anorexia Paraparesis Hyperlipidemia Hyponatremia Renal insufficiency Apathy Agitation Dysuria Ileus Urinary retention Diaphragmatic paralysis Abnormal urinary color Psychotic episodes Hypertensive crisis Respiratory paralysis Paralytic ileus Elevated urinary delta-aminolevulinic acid Red urine Arrhythmia Intellectual disability, mild Decreased antibody level in blood IgM deficiency Otitis media Recurrent otitis media Choreoathetosis Chronic diarrhea Recurrent bacterial infections Encephalitis IgA deficiency IgG deficiency Recurrent lower respiratory tract infections Gingivitis Agammaglobulinemia Cholangitis Stomatitis Dysgammaglobulinemia Behavioral abnormality Increased IgM level Sclerosing cholangitis Cholangiocarcinoma Wheezing Decreased T cell activation Impaired Ig class switch recombination Absence of lymph node germinal center Enlarged tonsils Agranulocytosis Opportunistic infection IgE deficiency Impaired memory B cell generation Muscle weakness Hemoptysis Kayser-Fleischer ring Emphysema Abnormality of the cerebral white matter Peripheral neuropathy Dysphagia Dystonia Cerebral atrophy Dementia Osteoporosis Difficulty walking Rigidity Arthritis Proteinuria Abnormality of the nervous system Infertility Hypoargininemia Poor speech Peripheral axonal neuropathy Joint hypermobility Bruising susceptibility Polyneuropathy Progressive neurologic deterioration Osteoarthritis Nephrolithiasis Bone pain Increased body weight Muscle stiffness Spontaneous abortion Spasticity Delayed menarche Nephrocalcinosis Viral hepatitis Cryptorchidism Motor delay Type II diabetes mellitus Hypertyrosinemia Micronodular cirrhosis Hepatoblastoma Chronic infection Elevated alpha-fetoprotein Embryonal neoplasm Epigastric pain Hepatic necrosis Subacute progressive viral hepatitis Mania Hyperactivity Irritability Memory impairment Hypertriglyceridemia Hyperammonemia Hypoalbuminemia Restlessness Drowsiness Delusions Echolalia Enuresis Cerebral edema Aminoaciduria Leukopenia Recurrent upper respiratory tract infections Varicose veins Mixed demyelinating and axonal polyneuropathy Atypical or prolonged hepatitis Elevated alkaline phosphatase Scarring Stroke Malabsorption Gastrointestinal hemorrhage Myocardial infarction Intestinal obstruction Polycythemia Thromboembolism Hypercoagulability Acute hepatitis Peritonitis Cholecystitis Gastrointestinal infarctions Budd-Chiari syndrome Reduced protein C activity Hepatic vein thrombosis Respiratory distress Dyspnea Nephrotic syndrome Abnormal lung morphology Bronchiectasis Vasculitis High nonceruloplasmin-bound serum copper Hypersexuality Drooling Abnormality of blood and blood-forming tissues Schizophrenia Abnormality of the hand Back pain Hypercalciuria Abnormality of mitochondrial metabolism Personality changes Oral-pharyngeal dysphagia Global brain atrophy Pathologic fracture Glycosuria Osteomalacia Arthropathy Joint swelling Poor motor coordination Hypoparathyroidism Hand tremor Increased reactive oxygen species production Renal tubular dysfunction Chondrocalcinosis Hyperphosphaturia Menstrual irregularities Proximal muscle weakness in lower limbs Retinoblastoma Abnormality of the menstrual cycle Premature osteoarthritis Hypocupremia Acute episodes of neuropathic symptoms



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