Neuroblastoma, and Anorexia

Diseases related with Neuroblastoma and Anorexia

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


Top matches:

High match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium 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

Low match CARNEY TRIAD


Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.

CARNEY TRIAD Is also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma

Related symptoms:

  • Anemia
  • Hypertension
  • Fatigue
  • Diarrhea
  • Headache


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CARNEY TRIAD

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Other less relevant matches:

Low match NEUROENDOCRINE TUMOR OF STOMACH


Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.

NEUROENDOCRINE TUMOR OF STOMACH Is also known as gnet|net of stomach|gastric net|gastric neuroendocrine tumor

Related symptoms:

  • Hepatomegaly
  • Weight loss
  • Elevated hepatic transaminase
  • Nausea and vomiting
  • Hepatic failure


SOURCES: ORPHANET MENDELIAN

More info about NEUROENDOCRINE TUMOR OF STOMACH

Low match FAMILIAL PANCREATIC CARCINOMA


Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.

FAMILIAL PANCREATIC CARCINOMA Is also known as familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|fammmpc|familial pancreatic cancer

Related symptoms:

  • Neoplasm
  • Diabetes mellitus
  • Abdominal pain
  • Weight loss
  • Jaundice


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PANCREATIC CARCINOMA

Low match BECKER NEVUS SYNDROME


Linear and whorled hypermelanosis (LWNH) is a benign skin condition characterized by onset in infancy of hyperpigmented regions composed of small light brown spots that coalesce with age and follow the lines of Blaschko on the trunk and limbs. The soles, palms, face, and mucous membranes are spared. The lesions are asymptomatic and progress with age; affected individuals have no accompanying extradermal features. There is no previous history of inflammation on affected areas (summary by Kalter et al., 1988).

BECKER NEVUS SYNDROME Is also known as pigmentary hairy epidermal nevus

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Kyphosis
  • Pectus excavatum
  • Autism


SOURCES: OMIM ORPHANET MENDELIAN

More info about BECKER NEVUS SYNDROME

Low 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

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Low match PARATHYROID CARCINOMA


Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.

PARATHYROID CARCINOMA Is also known as prtc

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Fatigue
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARATHYROID CARCINOMA

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

Top 5 symptoms//phenotypes associated to Neuroblastoma and Anorexia

Symptoms // Phenotype % cases
Weight loss Common - Between 50% and 80% cases
Nausea and vomiting Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Vomiting Headache Anemia Cataract Diarrhea Neoplasm Muscle weakness Carcinoma Elevated hepatic transaminase Arrhythmia Nausea Hepatomegaly Seizures Intellectual disability Global developmental delay Renal insufficiency Strabismus

Rare Symptoms - Less than 30% cases


Behavioral abnormality Jaundice Arthralgia Dyspnea Constipation Depressivity Hepatosplenomegaly Paresthesia Myalgia Cardiomyopathy Dysphagia Macrocephaly Malabsorption Hematochezia Edema Lethargy Intermittent diarrhea Pancreatic adenocarcinoma Episodic abdominal pain Poor appetite Paraganglioma Gastrointestinal hemorrhage Melanoma Colon cancer Hypertension Nevus Chronic fatigue Restrictive ventilatory defect Back pain Pancreatitis Renal cyst Coma Hypopigmentation of the skin Tachycardia Lymphadenopathy Abnormality of skin pigmentation Visual impairment Nystagmus Blindness Sarcoma Abnormal facial shape Leiomyosarcoma Hyphema Cranial nerve paralysis Hyperlipidemia Paraparesis Hallucinations Cutaneous photosensitivity Psychosis Abdominal distention Urinary incontinence Apathy Nephropathy Stage 5 chronic kidney disease Paralysis Anxiety Hyperhidrosis Cleft palate Intellectual disability, mild Hyponatremia Insomnia Agitation Paralytic ileus Nail dysplasia Tapered finger Nail dystrophy Autoimmunity Alopecia Splenomegaly Acute episodes of neuropathic symptoms Red urine Elevated urinary delta-aminolevulinic acid Respiratory paralysis Abnormality of the scrotum Hypertensive crisis Psychotic episodes Delirium Abnormal urinary color Diaphragmatic paralysis Urinary retention Ileus Dysuria Hepatocellular carcinoma Hyperpigmented streaks Upper limb asymmetry Aplasia/Hypoplasia of the breasts Neoplasm of the pancreas Peritoneal abscess Oropharyngeal squamous cell carcinoma Functional intestinal obstruction Malar flattening Ovarian carcinoma Extrahepatic cholestasis Intestinal pseudo-obstruction Neoplasm of the liver Exocrine pancreatic insufficiency Scoliosis Visual loss Squamous cell carcinoma Breast carcinoma Glaucoma Proptosis Diabetes mellitus Dermatological manifestations of systemic disorders Atypical pulmonary carcinoid tumor Abnormal pulmonary valve cusp morphology Pancreatic squamous cell carcinoma Kyphosis Hypoplastic labia minora Hamartoma Hyperpigmentation of the skin Reticular hyperpigmentation Shoulder girdle muscle atrophy Supernumerary ribs Gastritis Rib fusion Abnormality of tibia morphology Lower limb asymmetry Woolly hair Lipoatrophy Pectus excavatum Hypermelanotic macule Supernumerary nipple Acne Eosinophilia Spina bifida occulta Hydrocephalus Micromelia Pectus carinatum Autism Lymphedema Abnormality of the fingernails Hypocalcemia Astigmatism Amblyopia Long eyelashes Thickened skin Abnormal lung morphology Epistaxis Epidermal acanthosis Abnormal bleeding Neutropenia Bruising susceptibility Photophobia Abnormality of dental enamel Hyperkeratosis Recurrent infections Immunodeficiency Myopia Abnormality of the parathyroid morphology Renal hamartoma Mandibular pain Parathyroid carcinoma Uterine leiomyoma Abnormality of the hair Acanthosis nigricans Shortened QT interval Gingival bleeding Menometrorrhagia Partial albinism Squamous cell carcinoma of the skin Impaired platelet aggregation Abnormal thrombocyte morphology Ulcerative colitis Abnormality of the optic nerve Ocular albinism Abnormality of visual evoked potentials Severe vision loss Melanocytic nevus Iris hypopigmentation Hypopigmentation of hair Freckling Colitis Prolonged bleeding time Basal cell carcinoma Pulmonary fibrosis Albinism Inflammation of the large intestine Infantile hypercalcemia Testicular neoplasm Lack of bowel sounds Xerostomia Protein-losing enteropathy Intestinal polyposis Dystrophic fingernails Furrowed tongue Clubbing of fingers Dystrophic toenail Microcephaly Hypomagnesemia Abnormality of the vasculature Thromboembolism Hamartomatous polyposis Generalized hyperpigmentation Sparse body hair Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Clubbing Hypoalbuminemia Hypokalemia Cachexia Abnormal intestine morphology Stomach cancer Peripheral edema Fibroma Nephroblastoma Peptic ulcer Primary hyperparathyroidism Thyroid carcinoma Elevated circulating parathyroid hormone level Chondrocalcinosis Lipoma Hyperparathyroidism Hypophosphatemia Polyuria Polydipsia Patchy alopecia Hypercalcemia Hypercalciuria Nephrocalcinosis Hoarse voice Bone pain Nephrolithiasis Osteoporosis Decreased taste sensation Gastrointestinal carcinoma Glossitis Bowel urgency Cardiogenic shock Zollinger-Ellison syndrome Congenital cataract Osteosarcoma Metabolic acidosis Hepatic steatosis Pulmonary hypoplasia Lactic acidosis Anemia of inadequate production Joint hyperflexibility Limb muscle weakness Acute monocytic leukemia Abnormality of the cerebral white matter Muscle cramps Astrocytoma Dilated cardiomyopathy Abnormality of the liver Respiratory tract infection Abnormality of the pinna Hyperlordosis Hypertrophic cardiomyopathy Telecanthus Buphthalmos Chromosome breakage Tetraplegia Inflammatory abnormality of the eye Left ventricular hypertrophy Uveitis Scapular winging Exercise intolerance Type I diabetes mellitus Cardiac arrest Clonus Leukodystrophy Decreased liver function Wide anterior fontanel Renal dysplasia Generalized muscle weakness Heterotopia Pachygyria Abnormality of the genital system Tetraparesis Cardiomegaly Waddling gait Aciduria Increased serum lactate Gliosis Proximal muscle weakness Hypoglycemia Hyperammonemia Failure to thrive Fever Dysarthria Histiocytoma Motor delay Depressed nasal bridge Feeding difficulties Spasticity Muscular hypotonia Liposarcoma Ataxia Tremor Generalized hypotonia Sebaceous gland carcinoma Neoplasm of the eye Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Vitritis Gait disturbance Difficulty walking Anisocoria Retinoblastoma Vitreous hemorrhage High forehead Acidosis Ocular pain Gait ataxia Respiratory failure Elevated serum creatine phosphokinase Areflexia Encephalopathy Burkitt lymphoma Soft tissue sarcoma Congestive heart failure Leukocoria Myopathy Malar rash Glioblastoma multiforme Respiratory distress Respiratory insufficiency Fibrosarcoma Spastic tetraparesis Ragged-red muscle fibers Bronchospasm Defective dehydrogenation of isovaleryl CoA and butyryl CoA Pulmonary infiltrates Lymphoma Ascites Increased intracranial pressure Hearing impairment Myelodysplasia Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Abnormality of branched chain family amino acid metabolism Postural instability Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Pheochromocytoma Adrenocortical adenoma Arthralgia of the hip Chronic noninfectious lymphadenopathy Ewing sarcoma Facial telangiectasia Bloody diarrhea Protracted diarrhea Melena Skin rash Hematemesis Increased serum serotonin Increased circulating ACTH level Right ventricular failure Mediastinal lymphadenopathy Carcinoid tumor Leukemia Iron deficiency anemia Tricuspid regurgitation Palpitations Hypotension Hepatic failure Adrenal overactivity Gastrointestinal stroma tumor Glutaric acidemia Gastrointestinal inflammation Mutism Glycosuria Ketonuria Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Myoglobinuria Drowsiness Fatigable weakness Acute kidney injury Rhabdomyolysis Difficulty climbing stairs Neurofibromas Cellulitis Ventricular fibrillation Stridor Hemiplegia Acute myeloid leukemia Polycystic kidney dysplasia Slurred speech Easy fatigability Poor head control Excessive daytime somnolence Organic aciduria Narcolepsy Oliguria Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Generalized aminoaciduria Hypoketotic hypoglycemia Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Freckles in sun-exposed areas



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