Failure to thrive, and Hepatocellular carcinoma

Diseases related with Failure to thrive and Hepatocellular carcinoma

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

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

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

Other less relevant matches:

Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.

TYROSINEMIA TYPE 1 Is also known as hepatorenal tyrosinemia|fumarylacetoacetase deficiency|fah deficiency|fumarylacetoacetate hydrolase deficiency|tyrosinemia type i

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about TYROSINEMIA TYPE 1

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

High 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

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

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

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

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Top 5 symptoms//phenotypes associated to Failure to thrive and Hepatocellular carcinoma

Symptoms // Phenotype % cases
Hepatomegaly Very Common - Between 80% and 100% cases
Splenomegaly Common - Between 50% and 80% cases
Cirrhosis Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Hepatocellular carcinoma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Carcinoma

Common Symptoms - More than 50% cases

Anemia

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the liver Seizures Thrombocytopenia Neoplasm Hepatic failure Jaundice Growth delay Global developmental delay Cholestasis Elevated hepatic transaminase Strabismus Ascites Delayed skeletal maturation Congestive heart failure Abnormal bleeding Leukopenia Bone pain Progressive neurologic deterioration Dementia Spasticity Dystonia Intellectual disability Scoliosis Ataxia Oculomotor apraxia Pancytopenia Abnormality of eye movement Delayed puberty Myoclonus Recurrent respiratory infections Fatigue Vomiting Pruritus Portal hypertension Corneal opacity Tremor Menorrhagia Hematological neoplasm Petechiae Difficulty walking Interstitial pulmonary abnormality Exertional dyspnea Decreased beta-glucocerebrosidase protein and activity Supranuclear gaze palsy Clubbing Multiple myeloma Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Generalized osteosclerosis Abnormality of coagulation Erlenmeyer flask deformity of the femurs Orthopnea Hypertonia Cardiac valve calcification Edema Dysphagia Pulmonary arterial hypertension Lymphadenopathy Generalized myoclonic seizures Dyspnea Syncope Abdominal pain Cyanosis Arrhythmia Kyphosis Epistaxis Peripheral neuropathy Myopia Decreased body weight Osteolysis Cholelithiasis Proteinuria Rigidity Osteoporosis Abnormality of the thorax Depressivity Osteopenia Spontaneous hematomas Cognitive impairment Intrahepatic cholestasis Dysarthria Fat malabsorption Ophthalmoplegia Hepatitis

Rare Symptoms - Less than 30% cases

Abnormality of skin pigmentation Increased bone mineral density Aggressive behavior Progressive cerebellar ataxia Polyneuropathy Osteoarthritis Recurrent lower respiratory tract infections Neurological speech impairment Anorexia Malnutrition Hematuria Abdominal distention Fever Gait disturbance Anxiety Muscle weakness Pallor Decreased antibody level in blood Apraxia Immunodeficiency IgA deficiency Intrauterine growth retardation Pathologic fracture Hemolytic anemia Telangiectasia of the skin Restrictive deficit on pulmonary function testing Abnormal facial shape Slow saccadic eye movements Heart murmur Athetosis Bulbar palsy Neurodegeneration Intention tremor Opisthotonus Hydrops fetalis Malabsorption Lymphopenia Abnormal vertebral morphology Motor delay Weight loss Recurrent infections Chronic hepatitis Flexion contracture Bruising susceptibility Encephalopathy Vertebral compression fractures Neoplasm of the liver Acute hepatic failure Renal tubular dysfunction Nystagmus Giant cell hepatitis Choreoathetosis Increased serum ferritin Glomerulosclerosis Nephrocalcinosis Intermittent jaundice Hearing impairment Gastrointestinal hemorrhage Abnormal myocardium morphology Conjugated hyperbilirubinemia Irritability Hypoglycemia Dilatation Renal insufficiency Arthritis Coma IgE deficiency Aseptic necrosis Protuberant abdomen Clumsiness Elevated alpha-fetoprotein Leukoencephalopathy Hyperbilirubinemia Microcephaly Horizontal supranuclear gaze palsy Hepatic fibrosis Nausea Sepsis Increased susceptibility to fractures Involuntary movements Increased antibody level in blood Pericardial effusion Areflexia Abnormality of the skeletal system Intellectual disability, mild Macrotia Sleep myoclonus Hypertelorism Micrognathia Nonimmune hydrops fetalis Atrial septal defect Clinodactyly of the 5th finger Abnormality of ion homeostasis Cataract Acidosis Cryptorchidism Brachycephaly Visual loss Depressed nasal bridge Hypertension Clinodactyly Ventricular septal defect Downslanted palpebral fissures Frontal bossing Prominent forehead Upslanted palpebral fissure Abnormality of the acoustic reflex Elbow flexion contracture Mitral valve calcification Intestinal bleeding Eclabion Hemophagocytosis Mental deterioration Axial dystonia Abducens palsy Hydrocephalus Subcutaneous hemorrhage Laryngeal stridor Histiocytosis CSF pleocytosis Abnormal platelet aggregation Puberty and gonadal disorders Biliary tract obstruction Slowed horizontal saccades Vascular calcification Abnormal platelet function Abnormal pattern of respiration Hypoxemia Abnormal saccadic eye movements Abnormality of the sternum Aortic valve calcification Abnormal thrombosis Astrocytosis Protein-losing enteropathy Hypercoagulability Thoracic kyphosis Abnormal heart valve morphology Lower limb hyperreflexia Abnormal pyramidal sign Abnormal retinal morphology Restrictive ventilatory defect Pulmonary fibrosis Hypoalbuminemia Congenital nonbullous ichthyosiform erythroderma Abnormality of the larynx Generalized tonic-clonic seizures Coarse facial features Broad forehead Deeply set eye Axenfeld anomaly Bilateral ptosis Ectropion Hyponatremia Akinesia Multiple small medullary renal cysts Hypokinesia Renal artery stenosis Congenital ichthyosiform erythroderma Vitamin D deficiency Poor eye contact Atrophy/Degeneration affecting the brainstem Papillary thyroid carcinoma Intrahepatic biliary atresia Limb hypertonia Band keratopathy Biliary atresia Abnormal anterior chamber morphology Epileptic spasms Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Chronic hepatic failure Unicoronal synostosis Coronal craniosynostosis Intracranial hemorrhage Cardiac arrest Aspiration Hypocalcemia Knee flexion contracture Purpura Progressive microcephaly Thickened skin Hyperammonemia Poor suck Decreased fetal movement Abnormality of the skin Brain atrophy Pulmonary hypoplasia Rectourethral fistula Lethargy Cough Feeding difficulties in infancy Developmental regression Apnea Umbilical hernia Gastroesophageal reflux Polyhydramnios Respiratory distress Generalized hypotonia Butterfly vertebral arch Reduced number of intrahepatic bile ducts Peripheral arterial stenosis Pulmonary artery stenosis Conductive hearing impairment Stage 5 chronic kidney disease Pigmentary retinopathy Specific learning disability Prominent nose Round face Vesicoureteral reflux Triangular face Hypodontia Microcornea Hypopigmentation of the skin Short distal phalanx of finger Flat face Anal atresia Abnormality of the ribs Pulmonic stenosis Short philtrum Stroke Retinopathy Scarring Craniosynostosis Fetal akinesia sequence Hypomagnesemia Protruding ear Abnormality of the kidney Bulbar signs Trismus Tetralogy of Fallot Coarctation of aorta Abnormality of the vasculature Renal hypoplasia/aplasia Dilatation of the cerebral artery Exocrine pancreatic insufficiency Posterior embryotoxon Arthralgia of the hip Aspiration pneumonia Renal tubular acidosis Keratoconus Prolonged neonatal jaundice Long nose Chorioretinal atrophy Vertebral segmentation defect Hypoplasia of the ulna Corneal dystrophy Nephrotic syndrome Hypercholesterolemia Spina bifida occulta Finger clinodactyly Multicystic kidney dysplasia Hemivertebrae Pointed chin Lymphedema Exotropia Renal dysplasia Abnormal form of the vertebral bodies Hypertriglyceridemia Renal hypoplasia Abnormality of the ureter Hand tremor Flank pain Skeletal muscle atrophy Unsteady gait Abnormality of movement Leukemia Distal muscle weakness Respiratory tract infection Gait ataxia Diabetes mellitus Pneumonia Cerebellar atrophy Episodic peripheral neuropathy Abnormal cerebellum morphology Rickets of the lower limbs Paralytic ileus Elevated urinary delta-aminolevulinic acid Hepatic necrosis Hypermethioninemia Renal Fanconi syndrome Hypertyrosinemia Pancreatic islet-cell hyperplasia Abnormality of the abdominal wall Generalized aminoaciduria Distal amyotrophy Chorea Ileus Breast carcinoma Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Spinal muscular atrophy Polycystic ovaries Slurred speech Cerebral palsy Lymphoma Reduced tendon reflexes Recurrent pneumonia Truncal ataxia Abnormality of the hair Sinusitis Cafe-au-lait spot Limb ataxia Bronchiectasis Telangiectasia Type II diabetes mellitus Periodic paralysis Hypophosphatemic rickets Myeloid leukemia Civatte bodies Encephalitis Recurrent bacterial infections Chronic diarrhea Recurrent otitis media Otitis media Neutropenia Autoimmunity Intrahepatic cholestasis with episodic jaundice Increased serum bile acid concentration Vitamin E deficiency Gingivitis Thrombocytosis Steatorrhea Congenital sensorineural hearing impairment Pancreatitis Neuronal loss in central nervous system Rod-cone dystrophy Severe short stature Pes cavus Sensorineural hearing impairment Elevated alkaline phosphatase IgG deficiency Agammaglobulinemia Self-mutilation Opportunistic infection Enlarged kidney Axonal degeneration Rickets Peripheral demyelination Aciduria Paralysis Hypertrophic cardiomyopathy Cardiomyopathy Pain Impaired memory B cell generation Agranulocytosis Cholangitis Enlarged tonsils Absence of lymph node germinal center Impaired Ig class switch recombination Decreased T cell activation Cholangiocarcinoma Sclerosing cholangitis Increased IgM level Dysgammaglobulinemia IgM deficiency Stomatitis Abnormality of the immune system Prematurely aged appearance Abnormality of bone marrow cell morphology Joint swelling Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Hyperphosphaturia Esophageal varix Chondrocalcinosis Increased reactive oxygen species production Hypoparathyroidism Abnormality of blood and blood-forming tissues Hypocupremia Arthropathy Osteomalacia Glycosuria Global brain atrophy Oral-pharyngeal dysphagia Personality changes Abnormality of mitochondrial metabolism Hypercalciuria Back pain Abnormality of the hand Premature osteoarthritis Poor motor coordination Drooling Reduced bone mineral density Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Edema of the lower limbs Bipolar affective disorder Gingival bleeding Osteomyelitis Leukocytosis Spastic paraparesis Hypersexuality Meningitis Abnormality of the cardiovascular system Parkinsonism Abnormality of the eye EEG abnormality Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Schizophrenia Aminoaciduria Hodgkin lymphoma Hypoplasia of the thymus Female hypogonadism Decreased proportion of CD4-positive T cells Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Conjunctival telangiectasia Abnormality of chromosome stability Cellular immunodeficiency Chronic lymphatic leukemia Absent Achilles reflex Aplasia/Hypoplasia of the thymus Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Severe combined immunodeficiency Acute lymphoblastic leukemia Hypopigmentation of hair Increased sensitivity to ionizing radiation Mucosal telangiectasiae Spontaneous abortion Poor speech Muscle stiffness Increased body weight Decreased liver function Nephrolithiasis Psychosis Hepatic steatosis Joint hypermobility Peripheral axonal neuropathy Paresthesia Confusion Infertility Non-Hodgkin lymphoma Nausea and vomiting Abnormality of the cerebral white matter Abnormality of the nervous system Arthralgia Cerebral atrophy Defective B cell differentiation Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy EEG with temporal sharp waves


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