Neuroblastoma, and Hepatic fibrosis

Diseases related with Neuroblastoma and Hepatic fibrosis

In the following list you will find some of the most common rare diseases related to Neuroblastoma and Hepatic fibrosis that can help you solving undiagnosed cases.


Top matches:

Low match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Low match LEUKEMIA, ACUTE MYELOID; AML


LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKEMIA, ACUTE MYELOID; AML

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

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Other less relevant matches:

Low 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

Low 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

Low 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

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1


Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormality of the dentition
  • Thrombocytopenia
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

Low match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Low match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Top 5 symptoms//phenotypes associated to Neuroblastoma and Hepatic fibrosis

Symptoms // Phenotype % cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Neuroblastoma and Hepatic fibrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Microcephaly Cryptorchidism Abnormality of the dentition Carious teeth Pancytopenia Abnormality of the liver Thrombocytopenia Hepatocellular carcinoma Alopecia Intellectual disability Obesity Cleft palate Short stature Hearing impairment

Rare Symptoms - Less than 30% cases


Pancreatitis Large for gestational age Omphalocele Premature birth Macroglossia Hypoglycemia Umbilical hernia Coarse facial features Inguinal hernia Oral leukoplakia Pulmonary fibrosis Epiphora Aplastic anemia Myelodysplasia Coma Confusion Leukemia Hepatosplenomegaly Fatigue Nevus flammeus Enlarged kidney Cholestasis Nail dystrophy Intrahepatic cholestasis Diarrhea Growth delay Elevated alpha-fetoprotein Hepatoblastoma Hyperactivity Thrombocytosis Osteoporosis Hepatic steatosis Abnormality of skin pigmentation Neonatal hypoglycemia Nail dysplasia Hyperpigmentation of the skin Vomiting Bone marrow hypocellularity Embryonal neoplasm Anterior creases of earlobe Abnormality of earlobe Visceromegaly Hemihypertrophy Diastasis recti Anemia Hepatic failure Sparse hair Tremor Polydactyly Abnormality of the kidney Lobulated tongue Wide anterior fontanel Relative macrocephaly Arnold-Chiari malformation Sleep apnea Accelerated skeletal maturation Nephrolithiasis Tall stature Redundant skin Large fontanelles Cardiomegaly Congenital diaphragmatic hernia Prominent nose Vesicoureteral reflux Nephropathy Hypercalciuria Prominent occiput Nephroblastoma Ureteral duplication Leiomyosarcoma Choroideremia Asymmetric growth Pseudohypoparathyroidism Otosclerosis Rhabdomyosarcoma Gonadoblastoma Melanocytic nevus Multiple renal cysts Exocrine pancreatic insufficiency Prominent metopic ridge Polycythemia Neurodevelopmental delay Poor speech Long face Neurological speech impairment Facial hemangioma Sparse scalp hair High palate Pterygium Sparse eyelashes Hypertension Epicanthus Telangiectasia Small nail Micrognathia Microdontia Dysarthria Brachydactyly Wide nasal bridge Downslanted palpebral fissures Hypoargininemia Delayed menarche Low-set ears Hypertelorism Wide mouth Autism Feeding difficulties in infancy Hypertrophic cardiomyopathy Polyhydramnios Mandibular prognathia Hypothyroidism Proptosis Midface retrusion Poikiloderma Abnormality of cardiovascular system morphology Macrocephaly Generalized hypotonia Pterygium of nails Decreased mean platelet volume Esophageal stricture Nasolacrimal duct obstruction Urogenital fistula Adrenocortical carcinoma Mania Abnormal eyelash morphology White hair Periodontitis Taurodontia Abnormal eyebrow morphology Neoplasm of the pancreas Blepharitis Premature loss of teeth Ridged nail Aseptic necrosis Telangiectasia of the skin Aplasia/Hypoplasia of the skin Skin vesicle Macule Neurofibromas Hypermelanotic macule Abnormality of the testis Abnormality of female internal genitalia Premature graying of hair Rough bone trabeculation Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Nail pits Porokeratosis Cellular immunodeficiency Aplastic/hypoplastic toenail Interstitial pneumonitis Abnormality of neutrophils Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Testicular atrophy Abnormality of coagulation Tracheoesophageal fistula Infra-orbital crease Subchorionic septal cyst Immunodeficiency Intrauterine growth retardation Cataract Ataxia Scoliosis Global developmental delay Large intestinal polyposis Recurrent respiratory infections Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of pancreas morphology Congenital megaureter Large placenta Posterior helix pit Branchial cyst Cerebellar hypoplasia Hyperhidrosis Dermal atrophy Specific learning disability Hypopigmented skin patches Neoplasm of the skin Abnormal intestine morphology Abnormality of the fingernails Lymphopenia Skin ulcer Cerebral calcification Abnormal blistering of the skin Diabetes mellitus Lymphoma Hypoplasia of the maxilla Hypodontia Recurrent fractures Palmoplantar keratoderma Malabsorption Hyperkeratosis Delirium Echolalia Cerebral edema Hypospadias Apnea Milia Agenesis of permanent teeth Nephronophthisis Atrioventricular canal defect Patent ductus arteriosus Increased number of teeth Molar tooth sign on MRI Ventricular septal defect Median cleft lip Arachnoid cyst Strabismus Acute promyelocytic leukemia Chronic pain Renal cyst Radial deviation of finger Acute monocytic leukemia Microretrognathia Abnormal cerebellum morphology Bifid uvula Skin tags Abnormality of the vasculature Underdeveloped nasal alae Hypoplasia of dental enamel Central hypotonia Overgrowth Syringomyelia Supernumerary nipple Cutaneous syndactyly Psoriasiform dermatitis Abnormality of the outer ear Abnormality of the face Polycystic kidney dysplasia Night sweats Ecchymosis Stage 5 chronic kidney disease Deviation of finger Hepatic cysts Recurrent infections Headache Respiratory distress Pancreatic cysts Fever Pain Weight loss Narrow naris Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Respiratory failure Dyspnea Gingival bleeding Sarcoma Myelomeningocele Acute myeloid leukemia Myeloid leukemia Petechiae Menorrhagia Abnormal cortical gyration Leukopenia Porencephalic cyst Bifid tongue Abnormality of the pancreas Bruising susceptibility Lymphadenopathy Ovarian cyst Dry hair Scarring Postaxial polydactyly Tethered cord Enuresis Steatorrhea Civatte bodies Vitamin E deficiency Intermittent jaundice Fat malabsorption Conjugated hyperbilirubinemia Frontal bossing Malnutrition Intrahepatic cholestasis with episodic jaundice Congenital sensorineural hearing impairment Hydrocephalus Hyperbilirubinemia Renal insufficiency Neuronal loss in central nervous system Sepsis Syndactyly Increased serum bile acid concentration Edema Pruritus Hyperammonemia Tongue nodules Delusions Insomnia Drowsiness Restlessness Hypoalbuminemia Hallucinations Elevated hepatic transaminase Decreased liver function Hypertriglyceridemia Psychosis Memory impairment Lethargy Irritability Aggressive behavior Ophthalmoplegia Jaundice Abdominal wall defect Cleft lip Neoplasm of the liver Agenesis of corpus callosum Type II diabetes mellitus Hepatitis Proteinuria Telecanthus Abdominal pain Micronodular cirrhosis Abnormality of the cerebral white matter Motor delay Postauricular pit Auricular pit Prune belly Facial asymmetry Oral cleft Hypertyrosinemia Abnormal heart morphology Rod-cone dystrophy Depressivity Severe short stature Pes cavus Areflexia Dilatation Sensorineural hearing impairment Failure to thrive Subacute progressive viral hepatitis Chronic hepatitis Viral hepatitis Hepatic necrosis Portal vein thrombosis Epigastric pain Giant cell hepatitis Clinodactyly Chronic infection Absent lacrimal punctum



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