Anemia, and Hepatocellular carcinoma

Diseases related with Anemia and Hepatocellular carcinoma

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


Top matches:

Medium match PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Medium match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME


Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE 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

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Other less relevant matches:

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

Medium match HEMOCHROMATOSIS, TYPE 1; HFE1


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

Medium match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Medium match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

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

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Low match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

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

Symptoms // Phenotype % cases
Carcinoma Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hepatitis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Osteoporosis Failure to thrive Neoplasm Thrombocytopenia Hepatosplenomegaly Abnormality of the liver Cirrhosis Diarrhea Ascites Arthritis Edema Elevated hepatic transaminase Osteopenia Global developmental delay Ataxia Fatigue Cognitive impairment Delayed puberty Recurrent respiratory infections Growth delay Short stature Hemolytic anemia Intellectual disability Abdominal pain Arrhythmia Depressivity Recurrent infections Proteinuria Chronic hepatitis Myoclonus Multiple myeloma Dementia Dystonia Dysarthria Vomiting Tremor Spasticity Strabismus Abdominal distention Scoliosis Arthralgia Anxiety Weight loss Difficulty walking Portal hypertension Congestive heart failure Renal insufficiency Bone pain Hepatic steatosis Oculomotor apraxia Leukopenia Hematuria Abnormal bleeding Neoplasm of the liver Epistaxis Petechiae Progressive neurologic deterioration Pancytopenia Hepatic failure Increased antibody level in blood Abnormality of eye movement Lymphadenopathy

Rare Symptoms - Less than 30% cases


Hypercalciuria Syncope Acute hepatic failure Cyanosis Rigidity Osteoarthritis Pulmonary arterial hypertension Aggressive behavior Increased bone mineral density Decreased body weight Paresthesia Abnormality of the thorax Hypertension Pain Muscle weakness Diabetes mellitus IgE deficiency Osteolysis Increased susceptibility to fractures Nausea and vomiting Increased serum ferritin Increased reactive oxygen species production Bruising susceptibility Kyphosis Delayed skeletal maturation Dyspnea Telangiectasia Hyperlipidemia Anorexia Psychosis Corneal opacity Hepatic fibrosis Nephrocalcinosis Myopia Nephrolithiasis Coma Nephropathy Pathologic fracture Dysphagia Arthropathy Osteomalacia Nausea Protuberant abdomen Generalized myoclonic seizures Cholelithiasis Interstitial pulmonary abnormality Cholangiocarcinoma Decreased beta-glucocerebrosidase protein and activity Abnormality of the spleen Generalized osteosclerosis Lymphoma Spontaneous hematomas Cerebral palsy Peripheral neuropathy Orthopnea Erlenmeyer flask deformity of the femurs Increased IgM level Gait disturbance Intention tremor Alcoholism Immunodeficiency Hematological neoplasm Clubbing Cardiac valve calcification Chronic lymphatic leukemia Apraxia Horizontal supranuclear gaze palsy Progressive cerebellar ataxia Hodgkin lymphoma Polyneuropathy Autoimmunity Neurological speech impairment Avascular necrosis of the capital femoral epiphysis Nystagmus Neurodegeneration Clumsiness Alopecia Menorrhagia Cutaneous photosensitivity Pericardial effusion Recurrent lower respiratory tract infections Exertional dyspnea IgA deficiency Aseptic necrosis Abnormal myocardium morphology Involuntary movements Leukoencephalopathy Leukemia Hyperpigmentation of the skin Choreoathetosis Lymphopenia Vertebral compression fractures Decreased antibody level in blood Supranuclear gaze palsy Joint hypermobility Telangiectasia of the skin Confusion Peripheral axonal neuropathy Combined immunodeficiency Premature graying of hair Chromosome breakage Cholestasis Resting tremor Severe combined immunodeficiency Prematurely aged appearance Abnormality of the immune system Myeloid leukemia Acute lymphoblastic leukemia Decreased liver function Hypopigmentation of hair Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Jaundice Recurrent bronchitis Decreased/absent ankle reflexes Decreased proportion of CD4-positive T cells Female hypogonadism Elevated alpha-fetoprotein Increased sensitivity to ionizing radiation Abnormal spermatogenesis Aplasia/Hypoplasia of the thymus Neoplasm of the breast Chronic myelogenous leukemia Mucosal telangiectasiae Conjunctival telangiectasia Non-Hodgkin lymphoma Progressive spinal muscular atrophy Abnormality of chromosome stability Immunoglobulin IgG2 deficiency Cellular immunodeficiency Renal neoplasm Hypoplasia of the thymus Interosseus muscle atrophy Defective B cell differentiation Cerebral atrophy Abnormality of the nervous system Pruritus Abnormality of the cerebral white matter Absent Achilles reflex Spinocerebellar tract degeneration Infertility Lymphoproliferative disorder Abnormality of the testis Poor speech B-cell lymphoma Increased body weight EEG abnormality Muscle stiffness Puberty and gonadal disorders Ophthalmoplegia Generalized tonic-clonic seizures Abnormal pyramidal sign Pallor Mental deterioration Encephalopathy Hypertonia Hydrocephalus Biliary tract obstruction Hydrops fetalis Vascular calcification Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Malabsorption Hypoalbuminemia Bipolar affective disorder Restrictive deficit on pulmonary function testing Abnormality of the acoustic reflex Abnormality of ion homeostasis Mitral valve calcification Abnormal saccadic eye movements Aortic valve calcification Abnormal thrombosis Astrocytosis Protein-losing enteropathy Hypercoagulability Pulmonary fibrosis Slow saccadic eye movements Thoracic kyphosis Abnormal heart valve morphology Bulbar palsy Abnormality of the sternum Lower limb hyperreflexia Abnormal retinal morphology Restrictive ventilatory defect Opisthotonus Edema of the lower limbs Gingival bleeding Spontaneous abortion Abnormality of blood and blood-forming tissues Menstrual irregularities Hyperphosphaturia Esophageal varix Chondrocalcinosis Renal tubular dysfunction Hand tremor Hypoparathyroidism Joint swelling Glycosuria Retinoblastoma Global brain atrophy Oral-pharyngeal dysphagia Personality changes Abnormality of mitochondrial metabolism Back pain Abnormality of the hand Schizophrenia Drooling Aminoaciduria Proximal muscle weakness in lower limbs Abnormality of the menstrual cycle Abnormality of coagulation Abnormality of the eye Osteomyelitis Leukocytosis Reduced bone mineral density Spastic paraparesis Meningitis Abnormality of the cardiovascular system Parkinsonism Abnormality of skin pigmentation Athetosis Premature osteoarthritis Motor delay Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Glucose intolerance Enterocolitis Spinal muscular atrophy Encephalitis Sclerosing cholangitis Dysgammaglobulinemia IgM deficiency Stomatitis Cholangitis Agammaglobulinemia Gingivitis IgG deficiency Recurrent bacterial infections Impaired Ig class switch recombination Chronic diarrhea Recurrent otitis media Otitis media Sepsis Neutropenia Fever Intermediate uveitis Increased proportion of HLA DR+ T cells Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Decreased T cell activation Absence of lymph node germinal center Antineutrophil antibody positivity Stage 5 chronic kidney disease Insomnia Agitation Apathy Hyponatremia Cranial nerve paralysis Paraparesis Hallucinations Urinary incontinence Tachycardia Lethargy Enlarged tonsils Paralysis Myalgia Hyperhidrosis Constipation Intellectual disability, mild Behavioral abnormality Impaired memory B cell generation Opportunistic infection Agranulocytosis Smooth muscle antibody positivity Decreased lymphocyte apoptosis Ileus Fragile skin Hyperpigmentation in sun-exposed areas Porphyrinuria Viral hepatitis Facial hypertrichosis Congenital hypoplastic anemia Anemia of inadequate production Onycholysis Atypical scarring of skin Scleroderma Skin vesicle Purpura Hypopigmented skin patches Generalized hirsutism Thin skin Inflammatory abnormality of the skin Hypertrichosis Abnormal blistering of the skin Sudden cardiac death Skin rash Erythema Vasculitis Eosinophilia Platelet antibody positive Chronic noninfectious lymphadenopathy Coombs-positive hemolytic anemia Rheumatoid factor positive Cervical lymphadenopathy Increased IgG level Reduced delayed hypersensitivity Autoimmune neutropenia Follicular hyperplasia Antiphospholipid antibody positivity Increased IgA level Lymphocytosis Urticaria Extramedullary hematopoiesis Generalized edema Antinuclear antibody positivity Uveitis Autoimmune thrombocytopenia Iron deficiency anemia Autoimmune hemolytic anemia Basal cell carcinoma Glomerulonephritis Dysuria Urinary retention Polycystic ovaries Intermittent diarrhea Microcephaly Hypocitraturia Hepatocellular adenoma Doll-like facies Lipemia retinalis Distal renal tubular acidosis Chronic pancreatitis Hepatoblastoma Decreased glomerular filtration rate Xanthelasma Skeletal muscle atrophy Microalbuminuria Hypoglycemic seizures Pyelonephritis Skeletal myopathy Fasting hypoglycemia Breathing dysregulation Xanthomatosis Gout Enlarged kidney Flexion contracture Cerebellar atrophy Hyperuricemia Limb ataxia Slurred speech Breast carcinoma Reduced tendon reflexes Recurrent pneumonia Truncal ataxia Abnormality of the hair Abnormal vertebral morphology Sinusitis Cafe-au-lait spot Bronchiectasis Pneumonia Type II diabetes mellitus Chorea Abnormal cerebellum morphology Distal amyotrophy Unsteady gait Abnormality of movement Distal muscle weakness Respiratory tract infection Gait ataxia Renal tubular acidosis Prolonged bleeding time Diaphragmatic paralysis Hypogonadism Abnormal joint morphology Impotence Pleural effusion Azoospermia Hypogonadotrophic hypogonadism Insulin resistance Cardiomegaly Amenorrhea Dilated cardiomyopathy Cardiomyopathy Restrictive cardiomyopathy Acute episodes of neuropathic symptoms Red urine Elevated urinary delta-aminolevulinic acid Paralytic ileus Respiratory paralysis Hypertensive crisis Psychotic episodes Delirium Abnormal urinary color Pericarditis Testicular atrophy Decreased muscle mass Metabolic acidosis Focal segmental glomerulosclerosis Glomerulosclerosis Elevated alkaline phosphatase Chronic kidney disease Venous thrombosis Atherosclerosis Pancreatitis Hypertriglyceridemia Full cheeks Lactic acidosis Abnormal glucose tolerance Hypoglycemia Acidosis Myopathy Muscular hypotonia Elevated transferrin saturation Aceruloplasminemia Constrictive pericarditis Increased serum iron Microvesicular hepatic steatosis Sleep myoclonus



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