Hyperreflexia, and Hepatocellular carcinoma

Diseases related with Hyperreflexia and Hepatocellular carcinoma

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

Top matches:

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

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

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

Other less relevant matches:

Medium match LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

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

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

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

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

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

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

Symptoms // Phenotype % cases
Carcinoma Common - Between 50% and 80% cases
Abnormality of the liver Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Hepatomegaly Strabismus Tremor Global developmental delay Anemia Growth delay Gait disturbance Diarrhea Cholestasis Elevated hepatic transaminase Short stature Splenomegaly Portal hypertension Edema Hepatic fibrosis Abnormality of eye movement Gastrointestinal hemorrhage Hepatosplenomegaly Neoplasm Intrahepatic cholestasis Malabsorption Delayed puberty Dysarthria Oculomotor apraxia Hypertelorism Nystagmus Ataxia Scoliosis

Rare Symptoms - Less than 30% cases

Cerebral palsy Dilatation Fat malabsorption Round face Malnutrition Stage 5 chronic kidney disease Chronic hepatitis Abnormality of the kidney Pancreatitis IgE deficiency Frontal bossing Hepatic failure Renal insufficiency Sepsis Muscular hypotonia Pruritus Hypertension Jaundice Areflexia Hearing impairment Hemolytic anemia Hepatic steatosis Hypoalbuminemia Recurrent lower respiratory tract infections IgA deficiency Flexion contracture Multiple small medullary renal cysts Choreoathetosis Apraxia Hepatitis Decreased antibody level in blood Cholestatic liver disease Multicystic kidney dysplasia Recurrent infections Lymphopenia Cognitive impairment Spasticity Chronic hepatic failure Visual impairment Intrahepatic biliary atresia Breast carcinoma Hallucinations Memory impairment Hypertriglyceridemia Neurological speech impairment Irritability Telangiectasia of the skin Anxiety Weight loss Abnormal vertebral morphology Immunodeficiency Downslanted palpebral fissures Delayed skeletal maturation Intellectual disability, moderate Abdominal pain Dystonia Congestive heart failure Agenesis of corpus callosum Difficulty walking Aggressive behavior Acidosis Abnormal pyramidal sign Myoclonus Hypertonia Vomiting Hydrocephalus Pancytopenia Ophthalmoplegia Fatigue Neurodegeneration Myopia Thrombocytopenia Progressive cerebellar ataxia Intellectual disability, mild Recurrent respiratory infections Intention tremor Depressivity Low-set ears Behavioral abnormality Thyroid carcinoma Vertebral segmentation defect Band keratopathy Papillary thyroid carcinoma Chorioretinal atrophy Sclerosing cholangitis Axenfeld anomaly Hypoplasia of the ulna Heart murmur Prolonged neonatal jaundice Glomerulosclerosis Renal hypoplasia/aplasia Vitamin D deficiency Corneal dystrophy Long nose Keratoconus Biliary atresia Abnormality of the vasculature Peripheral pulmonary artery stenosis Increased IgM level Peripheral arterial stenosis Coronal craniosynostosis Dysgammaglobulinemia Hypopigmentation of the fundus Hypercholesterolemia Dilatation of the cerebral artery Abnormal pupil morphology Arterial stenosis Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the ureter Butterfly vertebrae Abnormal anterior chamber morphology Renal tubular acidosis Pulmonary artery stenosis Delusions Spina bifida occulta Conductive hearing impairment Anal atresia Pulmonic stenosis Broad forehead Short philtrum Stroke Retinopathy Scarring Craniosynostosis Agranulocytosis Protruding ear Deeply set eye Flat face Coarse facial features Macrotia Brachycephaly Upslanted palpebral fissure Prominent forehead Clinodactyly of the 5th finger Visual loss Clinodactyly Opportunistic infection Atrial septal defect Ventricular septal defect Abnormality of skin pigmentation Short distal phalanx of finger Finger clinodactyly Absence of lymph node germinal center Cholangiocarcinoma Hemivertebrae Renal artery stenosis Lymphedema Exotropia Renal dysplasia Abnormal form of the vertebral bodies Decreased T cell activation Impaired Ig class switch recombination Renal hypoplasia Nephrotic syndrome Hypopigmentation of the skin Coarctation of aorta Abnormality of the ribs Enlarged tonsils Tetralogy of Fallot Pigmentary retinopathy Specific learning disability Prominent nose Vesicoureteral reflux Triangular face Hypodontia Microcornea Pointed chin Butterfly vertebral arch IgM deficiency Erythema Hyperpigmentation of the skin Thin skin Inflammatory abnormality of the skin Hypertrichosis Cutaneous photosensitivity Abnormal blistering of the skin Sudden cardiac death Mania Delirium Skin rash Alopecia Hypopigmented skin patches Aplasia/Hypoplasia of the cerebellar vermis Abnormal pattern of respiration Congenital hepatic fibrosis Abnormality of the hypothalamus-pituitary axis Esophageal varix Neoplasm of the liver Optic nerve coloboma Abnormality of abdomen morphology Biparietal narrowing Occipital encephalocele Generalized hirsutism Skin vesicle Molar tooth sign on MRI Lethargy Insomnia Drowsiness Enuresis Restlessness Hyperammonemia Cerebral edema Decreased liver function Psychosis Coma Confusion Hyperactivity Fragile skin Obesity Hyperpigmentation in sun-exposed areas Porphyrinuria Viral hepatitis Facial hypertrichosis Congenital hypoplastic anemia Alcoholism Anemia of inadequate production Onycholysis Atypical scarring of skin Scleroderma Nephronophthisis Abnormality of neuronal migration Unicoronal synostosis Stomatitis Prominent nasal bridge Gingivitis Coloboma Agammaglobulinemia Wide mouth Feeding difficulties in infancy Abnormality of the eye Apnea Cholangitis Abnormality of the nervous system Polydactyly Oral cleft Cerebellar hypoplasia Inguinal hernia Intellectual disability, severe Anteverted nares Macrocephaly Ptosis Generalized hypotonia Echolalia Reduced number of intrahepatic bile ducts Rectourethral fistula IgG deficiency Encephalitis Delayed menarche Clumsiness Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Chronic kidney disease Hypoargininemia Fever Autoimmunity Neutropenia Aplasia/Hypoplasia of the corpus callosum Otitis media Recurrent otitis media Cerebellar vermis hypoplasia Leukoencephalopathy Postaxial hand polydactyly Intestinal malrotation Involuntary movements Renal cyst Chronic diarrhea Highly arched eyebrow Nephropathy Retinal dystrophy Iris coloboma Long face Recurrent bacterial infections Encephalocele Aplasia/Hypoplasia of the skin Abnormality of the skeletal system Abnormality of the spleen Mitral valve calcification Abnormal saccadic eye movements Aortic valve calcification Spontaneous hematomas Abnormal thrombosis Generalized osteosclerosis Astrocytosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Erlenmeyer flask deformity of the femurs Multiple myeloma Supranuclear gaze palsy Hypercoagulability Vertebral compression fractures Slow saccadic eye movements Thoracic kyphosis Aseptic necrosis Abnormal heart valve morphology Exertional dyspnea Bulbar palsy Orthopnea Decreased beta-glucocerebrosidase protein and activity Lower limb hyperreflexia Congenital sensorineural hearing impairment Developmental regression Constipation Intrahepatic cholestasis with episodic jaundice Increased serum bile acid concentration Civatte bodies Vitamin E deficiency Intermittent jaundice Conjugated hyperbilirubinemia Thrombocytosis Steatorrhea Hyperbilirubinemia Hematological neoplasm Neuronal loss in central nervous system Rod-cone dystrophy Severe short stature Pes cavus Sensorineural hearing impairment Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Cardiac valve calcification Horizontal supranuclear gaze palsy Abnormality of the sternum Abnormal retinal morphology Nausea and vomiting Dementia Lymphadenopathy Generalized tonic-clonic seizures Corneal opacity Pallor Mental deterioration Proteinuria Rigidity Osteopenia Dyspnea Osteoporosis Arrhythmia Ascites Encephalopathy Kyphosis Dysphagia Poor coordination Heterotopia Aciduria Asthma Bruising susceptibility Abnormality of metabolism/homeostasis Talipes equinovarus Hematuria Abdominal distention Pericardial effusion Increased susceptibility to fractures Interstitial pulmonary abnormality Restrictive ventilatory defect Petechiae Opisthotonus Increased antibody level in blood Pulmonary fibrosis Menorrhagia Clubbing Abnormality of the thorax Cholelithiasis Leukopenia Generalized myoclonic seizures Osteolysis Increased bone mineral density Bone pain Hydrops fetalis Decreased body weight Progressive neurologic deterioration Epistaxis Pulmonary arterial hypertension Cyanosis Syncope Abnormal bleeding Attention deficit hyperactivity disorder Paresthesia Intrauterine growth retardation Prematurely aged appearance Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Severe combined immunodeficiency Acute lymphoblastic leukemia Hypopigmentation of hair Hodgkin lymphoma Myeloid leukemia Absent Achilles reflex Abnormality of the immune system Multiple cafe-au-lait spots Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Spinocerebellar tract degeneration Hypoplasia of the thymus Recurrent pneumonia Non-Hodgkin lymphoma Depressed nasal bridge Cryptorchidism Cataract Abnormal facial shape Micrognathia Defective B cell differentiation Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Mucosal telangiectasiae Chronic lymphatic leukemia Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Conjunctival telangiectasia Abnormality of chromosome stability Cellular immunodeficiency Reduced tendon reflexes Truncal ataxia Dyskinesia Prostate cancer Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Neoplasm of the thyroid gland Agnosia Glioblastoma multiforme Pancreatic adenocarcinoma Leiomyosarcoma Amaurosis fugax Dysgraphia Intestinal polyposis Cardiac diverticulum Pituitary adenoma Neoplasm of the pancreas Ovarian neoplasm Neuroblastoma Colon cancer Visual field defect Basal cell carcinoma Hemiplegia/hemiparesis Increased intracranial pressure Migraine Neoplasm of the rectum Urinary tract neoplasm Abnormality of the hair Distal amyotrophy Sinusitis Cafe-au-lait spot Limb ataxia Bronchiectasis Telangiectasia Type II diabetes mellitus Lymphoma Chorea Abnormal cerebellum morphology Polyneuropathy Unsteady gait Microcephaly Abnormality of movement Leukemia Distal muscle weakness Respiratory tract infection Gait ataxia Diabetes mellitus Pneumonia Cerebellar atrophy Skeletal muscle atrophy Peripheral neuropathy Muscle weakness Impaired memory B cell generation


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