Neuroblastoma, and Depressivity

Diseases related with Neuroblastoma and Depressivity

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


Top matches:

High match ONDINE SYNDROME


Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

High 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

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B


Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, {204200}). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B Is also known as ceroid lipofuscinosis, neuronal, parry type|kufs disease, autosomal dominant

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Tremor


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B

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Other less relevant matches:

Medium match PAPILLOMA OF CHOROID PLEXUS; CPP


Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

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

Medium match 17Q21.31 MICRODELETION SYNDROME


Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

Medium match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Medium 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

Medium match PROGRESSIVE NON-FLUENT APHASIA


Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.

PROGRESSIVE NON-FLUENT APHASIA Is also known as agramatic variant of primary progressive aphasia|agramatic variant of ppa|non-fluent variant ppa

Related symptoms:

  • Behavioral abnormality
  • Depressivity
  • Anxiety
  • Mental deterioration
  • Stroke


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE NON-FLUENT APHASIA

Medium match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Top 5 symptoms//phenotypes associated to Neuroblastoma and Depressivity

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Anxiety Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Weight loss Headache Memory impairment Pain Paresthesia Tremor Vomiting Difficulty walking Visual impairment Abnormality of the cerebral white matter Fatigue Nausea Spasticity Failure to thrive Nausea and vomiting Back pain High forehead Hydrocephalus Abnormality of the skeletal system Abnormal facial shape Poor speech Brain neoplasm Hearing impairment Respiratory insufficiency Feeding difficulties Muscular hypotonia Cognitive impairment Constipation Low-set ears Strabismus

Rare Symptoms - Less than 30% cases


Hyperactivity Scarring Respiratory failure Bone pain Abnormal heart morphology Atrial septal defect Confusion Abnormality of cardiovascular system morphology Glioma Global developmental delay Hydronephrosis Cryptorchidism Pulmonic stenosis Joint hypermobility Hypertension Hypertelorism Muscle stiffness Astrocytoma Involuntary movements Abnormality of extrapyramidal motor function Parkinsonism Mental deterioration Rigidity Gait ataxia Dementia Ataxia Generalized hypotonia Muscle weakness Incoordination Elevated hepatic transaminase Glycosuria Peripheral axonal neuropathy Osteomalacia Mutism Increased reactive oxygen species production Pruritus Decreased liver function Heterotopia Abnormality of the genital system Coma Hepatic steatosis Osteoporosis Abnormality of the liver Hypertrophic cardiomyopathy Hypoglycemia Cataract Visual loss Personality changes Arthralgia Peripheral neuropathy Cardiomyopathy Anemia Dysphagia Short stature Macrocephaly Scoliosis Hepatomegaly Ptosis Motor delay Delayed speech and language development Jaundice Edema Neoplasm of the central nervous system Attention deficit hyperactivity disorder Apnea Hepatocellular carcinoma Respiratory tract infection Sleep apnea Increased intracranial pressure Diarrhea Dysgraphia Malabsorption Abnormality of the cardiovascular system Leiomyosarcoma Gastrointestinal hemorrhage Irritability Increased body weight Carcinoma Breast carcinoma Gait disturbance Cardiorespiratory arrest Aganglionic megacolon Fever Dyskinesia Abnormality of skin pigmentation EEG with continuous slow activity Recurrent fractures Facial asymmetry Genu valgum Oral-pharyngeal dysphagia Leukemia Paralysis Autistic behavior Osteopenia Kyphoscoliosis Glaucoma Grammar-specific speech disorder Dilatation Intellectual disability, mild Blindness Autism Overgrowth Lymphoma Clitoral hypertrophy Overweight Severe vision loss Renal cell carcinoma Frontotemporal cerebral atrophy Multiple cafe-au-lait spots Motor aphasia Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Temporal cortical atrophy Sensory axonal neuropathy Precocious puberty Specific learning disability Sarcoma Alexia Reduced bone mineral density Venous thrombosis Atherosclerosis Spina bifida Sensorimotor neuropathy Cafe-au-lait spot Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Tetralogy of Fallot Hypotrophy of the small hand muscles Spoken Word Recognition Deficit Multifocal epileptiform discharges Abnormality of hair pigmentation Narrow palpebral fissure Elbow dislocation Aortic aneurysm Failure to thrive in infancy Pyloric stenosis Nasal speech Abnormality of the urinary system Laryngomalacia Abnormality of the genitourinary system Bicuspid aortic valve Sacral dimple Widely spaced teeth Joint dislocation Sparse eyebrow Narrow palate Open mouth Status epilepticus Hypotelorism CNS demyelination Eczema Hip dysplasia Wide intermamillary distance Focal-onset seizure Otitis media Underdeveloped nasal alae Emotional lability Hyperkinesis Positional foot deformity Abnormality of the head Broad chin Conspicuously happy disposition Pear-shaped nose Narrow palm Gangrene Expressive language delay Prominent fingertip pads Nystagmus Chronic infection Hyperreflexia Anteverted ears Autoimmunity Overfolded helix Abnormality of hair texture Urinary incontinence Spondylolisthesis Prominent metopic ridge Slender finger Abnormality of the sternum Vertebral fusion Long fingers Diplopia Cortical dysplasia Impulsivity Abnormal brain FDG positron emission tomography Pheochromocytoma Meningioma Hepatic failure Retinoblastoma Abnormality of the menstrual cycle Premature osteoarthritis Psychosis Hepatitis Ascites Polyneuropathy Hypocupremia Poor motor coordination Hemolytic anemia Bruising susceptibility Cirrhosis Proximal muscle weakness in lower limbs Infertility Aggressive behavior Abnormality of the nervous system Proteinuria Arthritis Hepatosplenomegaly Thrombocytopenia Cerebral atrophy Hypersexuality Acute hepatitis High nonceruloplasmin-bound serum copper Splenomegaly Progressive neurologic deterioration Menstrual irregularities Kayser-Fleischer ring Drooling Pathologic fracture Arthropathy Abnormality of blood and blood-forming tissues Abnormality of mitochondrial metabolism Hypercalciuria Joint swelling Hypoparathyroidism Hand tremor Abnormality of the hand Renal tubular dysfunction Schizophrenia Leukoencephalopathy Neoplasm of the liver Acute hepatic failure Leukopenia Nephrocalcinosis Chondrocalcinosis Aminoaciduria Spontaneous abortion Esophageal varix Nephrolithiasis Clumsiness Cholestasis Osteoarthritis Hyperphosphaturia Mixed demyelinating and axonal polyneuropathy Dystonia Neoplasm of the endocrine system Rhabdomyosarcoma Soft tissue sarcoma Lewy bodies Epigastric pain Dural ectasia Fibular bowing Gastrointestinal stroma tumor Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Nasolacrimal duct obstruction Abnormal lower motor neuron morphology Pseudoarthrosis Carcinoid tumor Senile plaques Paraganglioma Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Astrocytosis Global brain atrophy Parathyroid adenoma Aqueductal stenosis Perseveration Myocardial fibrosis Frontotemporal dementia Single ventricle Atypical or prolonged hepatitis Dysphasia Everted lower lip vermilion Growth delay Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Stroke Apraxia Aphasia Renal artery stenosis Neurofibrillary tangles Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Restlessness Neurofibrosarcoma Neuroma Thickened nuchal skin fold Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Vesicoureteral reflux Electron transfer flavoprotein-ubiquinone oxidoreductase defect Small hand Recurrent infections Choanal stenosis Broad neck Papilledema Upper limb undergrowth Loss of consciousness Hypertrichosis Macroglossia Delayed eruption of teeth Micropenis Pneumonia Midface retrusion Talipes equinovarus Osteosarcoma Granular osmiophilic deposits (GROD) in cells Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Stooped posture Increased neuronal autofluorescent lipopigment Auditory hallucinations Tics Visual hallucinations Neuronal loss in central nervous system Abnormal cerebellum morphology Retinal degeneration Broad ribs Papilloma Cerebral cortical atrophy Telecanthus Muscle cramps Renal cyst Metabolic acidosis Pulmonary hypoplasia Lactic acidosis Joint hyperflexibility Limb muscle weakness Congenital cataract Lethargy Dilated cardiomyopathy Abnormality of the pinna Hyperlordosis Myalgia Choroid plexus papilloma Proximal muscle weakness Acidosis Dyspnea Elevated serum creatine phosphokinase Areflexia Arrhythmia Encephalopathy Congestive heart failure Myopathy Respiratory distress Depressed nasal bridge Choroid plexus carcinoma Generalized tonic-clonic seizures Myoclonus Generalized muscle weakness Abnormality of the mouth Ganglioneuroma Snoring Triangular mouth Abnormality of temperature regulation Central hypoventilation Abnormal pupil morphology Hypoxemia Chronic lung disease Abnormality of the endocrine system Chronic constipation Hypothermia Obstructive sleep apnea Hypoventilation Abnormality of the autonomic nervous system Polycythemia Polyphagia Abnormal autonomic nervous system physiology Abnormal lung morphology Cyanosis Postural instability Low-set, posteriorly rotated ears Hyperhidrosis Posteriorly rotated ears Obesity Short nose Downslanted palpebral fissures Ganglioneuroblastoma Hypercapnia Urinary tract neoplasm Pituitary adenoma Cardiac diverticulum Neoplasm of the rectum 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 Amaurosis fugax Prostate cancer Intestinal polyposis Neoplasm of the pancreas Flexion contracture Ovarian neoplasm Colon cancer Visual field defect Basal cell carcinoma Hemiplegia/hemiparesis Hallucinations Migraine Neurological speech impairment Abnormal pyramidal sign Developmental regression Abdominal pain Hypertonia Tetraplegia Gliosis High, narrow palate Abnormality of branched chain family amino acid metabolism Abnormality of the dentition Hypoplasia of the corpus callosum Ventriculomegaly Ventricular septal defect Intrauterine growth retardation Epicanthus High palate Cleft palate Microcephaly Abnormality of blood glucose concentration Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Fatigable weakness of neck muscles Long philtrum 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 Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Kyphosis Absent speech Renal cortical cysts Abnormal cardiac septum morphology Bulbous nose Long face Cleft upper lip Oral cleft Dry skin Arachnodactyly Abnormality of the foot Hypermetropia Hip dislocation Small for gestational age Broad forehead Prominent nasal bridge Blepharophimosis Hypospadias Protruding ear Pallor Feeding difficulties in infancy Intellectual disability, moderate Cleft lip Joint laxity Conductive hearing impairment Pes planus Macrotia Hypothyroidism Upslanted palpebral fissure Pectus excavatum Cataplexy Limb tremor Increased serum lactate Exercise intolerance Ventricular fibrillation Stridor Hemiplegia Polycystic kidney dysplasia Slurred speech Easy fatigability Poor head control Ragged-red muscle fibers Hyperammonemia Spastic tetraparesis Pancreatitis Scapular winging Type I diabetes mellitus Difficulty climbing stairs Cardiac arrest Clonus Leukodystrophy Wide anterior fontanel Anorexia Left ventricular hypertrophy Renal dysplasia Pachygyria Tetraparesis Cardiomegaly Waddling gait Aciduria Restrictive ventilatory defect Rhabdomyolysis Impaired mastication Episodic vomiting Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Proximal tubulopathy Acute kidney injury Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Progressive proximal muscle weakness Ketosis Myoglobinuria Drowsiness Fatigable weakness Urinary hesitancy



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 Abnormality of metabolism/homeostasis, related diseases and genetic alterations Feeding difficulties and Autistic behavior, related diseases and genetic alterations

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