Neuroblastoma, and Ulcerative colitis

Diseases related with Neuroblastoma and Ulcerative colitis

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


Top matches:

Medium match COLORECTAL CANCER; CRC


Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013). Genetic Heterogeneity of Colorectal CancerMutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP ) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene (OMIM ), whereas HNPCC is caused by mutations in several genes, including MSH2 (OMIM ), MLH1 (OMIM ), PMS1 (OMIM ), PMS2 (OMIM ), MSH6 (OMIM ), TGFBR2 (OMIM ), and MLH3 (OMIM ). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis (OMIM ), which is caused by mutations in the MUTYH gene (OMIM ), and oligodontia-colorectal cancer syndrome (OMIM ), which is caused by mutations in the AXIN2 gene (OMIM ).The CHEK2 gene (OMIM ) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene (OMIM ) was identified in a patient with colorectal cancer.Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 (OMIM ) is conferred by mutation in the GALNT12 gene (OMIM ) on chromosome 9q22; CRCS2 (OMIM ) maps to chromosome 8q24; CRCS3 (OMIM ) is conferred by variation in the SMAD7 gene (OMIM ) on chromosome 18; CRCS4 (OMIM ) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (OMIM ); CRCS5 (OMIM ) maps to chromosome 10p14; CRCS6 (OMIM ) maps to chromosome 8q23; CRCS7 (OMIM ) maps to chromosome 11q23; CRCS8 (OMIM ) maps to chromosome 14q22; CRCS9 (OMIM ) maps to 16q22; CRCS10 (OMIM ) is conferred by mutation in the POLD1 gene (OMIM ) on chromosome 19q13; CRCS11 (OMIM ) maps to chromosome 20p12; and CRCS12 (OMIM ) is conferred by mutation in the POLE gene (OMIM ) on chromosome 12q24.Somatic mutations in many different genes, including KRAS (OMIM ), PIK3CA (OMIM ), BRAF (OMIM ), CTNNB1 (OMIM ), FGFR3 (OMIM ), AXIN2 (OMIM ), AKT1 (OMIM ), MCC (OMIM ), MYH11 (OMIM ), PARK2 (OMIM ), and RNF43 (OMIM ), have been identified in colorectal cancer.

COLORECTAL CANCER; CRC Is also known as colon cancer

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Oligodontia
  • Colon cancer
  • Colitis


SOURCES: OMIM MENDELIAN

More info about COLORECTAL CANCER; CRC

Medium match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME


Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME Is also known as constitutional mismatch repair deficiency syndrome|mismatch repair deficiency|btps1|cmmr-d syndrome|mmr deficiency|childhood cancer syndrome|btp1 syndrome|cmmrds|turcot syndrome|brain tumor-polyposis syndrome 1

Related symptoms:

  • Neoplasm
  • Agenesis of corpus callosum
  • Carcinoma
  • Leukemia
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

Low 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

Low match HADDAD SYNDROME


Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome|ondine-hirschsprung syndrome|ondine-hirschsprung disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HADDAD SYNDROME

Low match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Low match INFANTILE MYOFIBROMATOSIS


Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts.

INFANTILE MYOFIBROMATOSIS Is also known as myofibromatosis, juvenile|cgf|fibromatosis, congenital generalized

Related symptoms:

  • Neoplasm
  • Pain
  • Abnormality of the kidney
  • Abnormality of the eye
  • Limitation of joint mobility


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INFANTILE MYOFIBROMATOSIS

Low match FAMILIAL MULTINODULAR GOITER


Multinodular goiter (MNG) is a common disorder characterized by nodular enlargement of the thyroid gland. In MNG1, some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary (summary by Rio Frio et al., 2011). Genetic Heterogeneity of Multinodular GoiterOther MNG loci map to chromosome Xp22 (MNG2 ) and chromosome 3q26 (MNG3 ).

FAMILIAL MULTINODULAR GOITER Is also known as multinodular goiter, adolescent|fmng|euthyroid goiter|simple goiter|goiter, nontoxic, with intrathyroidal calcification|familial mng

Related symptoms:

  • Neoplasm
  • Pain
  • Abdominal pain
  • Carcinoma
  • Amenorrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MULTINODULAR GOITER

Low match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Top 5 symptoms//phenotypes associated to Neuroblastoma and Ulcerative colitis

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Basal cell carcinoma Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Neuroblastoma and Ulcerative colitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Colitis Seizures Neutropenia Muscular hypotonia Medulloblastoma Brain neoplasm Inflammation of the large intestine Failure to thrive Dysarthria Cataract Weight loss Fatigue Colorectal polyposis Colon cancer Intellectual disability

Rare Symptoms - Less than 30% cases


Ataxia Hypopigmentation of the skin Lymphoma Freckling Restrictive ventilatory defect Abnormality of the hair Anorexia Abnormal lung morphology Gastrointestinal hemorrhage Dyspnea Leiomyosarcoma Sarcoma Recurrent infections Immunodeficiency Cardiomyopathy Visual impairment Fibroma Astrocytoma Melanocytic nevus Heterotopia Intestinal polyposis Neurofibromas Ovarian neoplasm Respiratory tract infection Congestive heart failure Diarrhea Type I diabetes mellitus Abnormal intestine morphology Fatigable weakness Benign neoplasm of the central nervous system Neoplasm of the pancreas Hemiplegia/hemiparesis Pituitary adenoma Nausea and vomiting Depressivity Behavioral abnormality Gait disturbance Renal cell carcinoma Hemiplegia Glioblastoma multiforme Rhabdomyosarcoma Nevus Neoplasm of the skin Malabsorption Respiratory failure Macrocephaly Motor delay Telecanthus Spasticity Skin ulcer Abnormality of the musculature Oliguria Glutaric aciduria Cataplexy Progressive spastic quadriplegia Renal cortical cysts Neoplasm of the lung Ankylosis Irregular hyperpigmentation Tracheoesophageal fistula Limb tremor Personality disorder Abnormality of the skull Abnormality of the thorax Hypercalcemia Hypoglycemic coma Nonketotic hypoglycemia Impaired mastication Osteolysis Intestinal obstruction Bone cyst Chondrocalcinosis Thyroid carcinoma Euthyroid multinodular goiter Pilomatrixoma Cerebellar medulloblastoma Testicular seminoma Alveolar rhabdomyosarcoma Pleuropulmonary blastoma Medulloepithelioma Euthyroid goiter Papillary thyroid carcinoma Multinodular goiter Episodic abdominal pain Subcutaneous nodule Hyperthyroidism Acute pancreatitis Respiratory arrest Goiter Generalized aminoaciduria Amenorrhea Abnormality of connective tissue Hypersarcosinemia Abnormal sacrum morphology Gingival fibromatosis Hepatic periportal necrosis Gingival overgrowth Abnormality of the metaphysis Abnormality of the face Recurrent otitis media Combined immunodeficiency Clubbing Recurrent upper respiratory tract infections Ethylmalonic aciduria Purpura Conjunctivitis Reye syndrome-like episodes Chronic diarrhea Bronchiectasis Inflammatory abnormality of the skin Interstitial pulmonary abnormality Pancytopenia Otitis media Decreased antibody level in blood Increased muscle lipid content Reduced protein C activity Asthma Hemolytic anemia Lymphadenopathy Autoimmunity Ketotic hypoglycemia Electron transfer flavoprotein-ubiquinone oxidoreductase defect Autoimmune hemolytic anemia Global developmental delay Narcolepsy Limitation of joint mobility Abnormality of the eye Abnormality of the kidney Burkitt lymphoma Follicular hyperplasia Generalized lymphadenopathy Interstitial pneumonitis Gastritis IgM deficiency Immune dysregulation Cor pulmonale Recurrent sinusitis Gastrointestinal inflammation Verrucae Arthralgia of the hip Villous atrophy Clubbing of fingers Chronic lung disease Exocrine pancreatic insufficiency Autoimmune thrombocytopenia Glutaric acidemia IgA deficiency Sertoli cell neoplasm Glycosuria Rhabdomyolysis Abnormality of branched chain family amino acid metabolism Pachygyria Abnormality of the genital system Tetraparesis Cardiomegaly Waddling gait Aciduria Increased serum lactate Gliosis Generalized muscle weakness Tetraplegia Myoglobinuria Left ventricular hypertrophy Ketosis Muscle cramps Renal cyst Coma Metabolic acidosis Progressive proximal muscle weakness Hepatic steatosis Pulmonary hypoplasia Lactic acidosis Nausea Renal dysplasia Wide anterior fontanel Limb muscle weakness Hyperammonemia Difficulty climbing stairs Ventricular fibrillation Stridor Back pain Polycystic kidney dysplasia Slurred speech Easy fatigability Poor head control Mutism Ragged-red muscle fibers Spastic tetraparesis Decreased liver function Pancreatitis Acute kidney injury Scapular winging Exercise intolerance Cardiac arrest Drowsiness Fatigable weakness of distal limb muscles Clonus Leukodystrophy Fatigable weakness of neck muscles Joint hyperflexibility Congenital cataract Muscle weakness Respiratory insufficiency Elevated plasma acylcarnitine levels Encephalopathy Headache Hypoketotic hypoglycemia Vomiting Exercise-induced myalgia Myopathy Edema Proximal tubulopathy Respiratory distress Episodic vomiting Organic aciduria Dysphagia Abnormality of the renal tubule Tremor Fever Hepatomegaly Depressed nasal bridge Feeding difficulties Abnormal corpus callosum morphology Abnormal facial shape Loss of ability to walk Arrhythmia Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of the cerebral white matter Difficulty walking Lethargy Dilated cardiomyopathy Abnormality of the liver Abnormality of the pinna Hyperlordosis Hypertrophic cardiomyopathy Myalgia Proximal muscle weakness Elevated hepatic transaminase Hypoglycemia Jaundice Areflexia Arthralgia High forehead Cardiorespiratory arrest Acidosis Arthritis Ketonuria Gait ataxia Elevated serum creatine phosphokinase Excessive daytime somnolence Chronic fatigue Generalized hypotonia Pancreatic adenocarcinoma Hepatosplenomegaly Nephritis Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Vertebral fusion Agenesis of permanent teeth Long fingers Milia Disproportionate tall stature Glomerulonephritis Skin tags Relative macrocephaly Spina bifida occulta Hemivertebrae Hypogonadotrophic hypogonadism Muscle stiffness Short ribs Spina bifida Bradycardia Hyperpigmentation of the skin Exotropia Down-sloping shoulders Short 4th metacarpal Abnormality of the ribs Severe hydrocephalus Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Multiple impacted teeth Abnormality of the neck Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Broad face Neoplasm of the endocrine system Hemiparesis Cerebral calcification Bridged sella turcica Micrognathia Abnormality of the dentition Hydrocephalus Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Wide nasal bridge Brachydactyly Epicanthus Cryptorchidism Cleft palate Hypertelorism Microphthalmia Scoliosis Microcephaly Hearing impairment Uterine leiomyosarcoma Neoplasm of the stomach Hereditary nonpolyposis colorectal carcinoma Transitional cell carcinoma of the bladder Endometrial carcinoma Retinoblastoma Oligodontia Syndactyly Pectus excavatum Hypotension Sparse hair Palmoplantar keratoderma Postaxial polydactyly Iris coloboma Oral cleft Cleft upper lip Arachnodactyly Carious teeth Hypotrichosis Papule Coloboma Facial palsy Visual loss Cleft lip Proteinuria EEG abnormality Coarse facial features Retrognathia Kyphoscoliosis Mandibular prognathia Proptosis Polydactyly Glaucoma Brachycephaly Plantar pits Cardiac fibroma Hypothyroidism Paresthesia Dysgraphia Prostate cancer Hepatocellular carcinoma Visual field defect Breast carcinoma Increased intracranial pressure Hallucinations Memory impairment Migraine Dyskinesia Neurological speech impairment Agnosia Attention deficit hyperactivity disorder Abnormal pyramidal sign Irritability Developmental regression Anxiety Constipation Hypertonia Flexion contracture Adenocarcinoma of the colon Acute myelomonocytic leukemia Amaurosis fugax Neoplasm of the thyroid gland Axillary freckling Breathing dysregulation Diabetes mellitus Recurrent respiratory infections Pneumonia Thrombocytopenia Splenomegaly Anemia Growth delay Ganglioneuroma Central sleep apnea Central hypoventilation Abnormal autonomic nervous system physiology Neoplasm of the skeletal system Aganglionic megacolon Decreased fetal movement Oligohydramnios Small for gestational age Gastroesophageal reflux Polyhydramnios Sensorineural hearing impairment Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Abnormality of creatine metabolism Gray matter heterotopias Ependymoma Irregular ossification of hand bones Epistaxis Hypopigmentation of hair Prolonged bleeding time Pulmonary fibrosis Albinism Melanoma Acanthosis nigricans Abnormality of dental enamel Amblyopia Long eyelashes Thickened skin Epidermal acanthosis Severe vision loss Abnormal bleeding Bruising susceptibility Astigmatism Photophobia Hyperkeratosis Renal insufficiency Blindness Myopia Nystagmus Hamartomatous stomach polyps Iris hypopigmentation Gingival bleeding Intestinal polyp Cafe-au-lait spot Neoplasm of the central nervous system Lisch nodules Glioma Abnormality of abdomen morphology Acute lymphoblastic leukemia Hodgkin lymphoma Multiple cafe-au-lait spots Multiple lipomas Hypermelanotic macule Nephroblastoma Sepsis Abnormality of visual evoked potentials Leukemia Agenesis of corpus callosum Freckles in sun-exposed areas Menometrorrhagia Partial albinism Squamous cell carcinoma of the skin Impaired platelet aggregation Abnormal thrombocyte morphology Abnormality of the optic nerve Hematochezia Ocular albinism Abnormality of blood glucose concentration



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Astigmatism, related diseases and genetic alterations Myopia and Narrow forehead, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more