Neuroblastoma, and Respiratory tract infection

Diseases related with Neuroblastoma and Respiratory tract infection

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


Top matches:

Low 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

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Low match SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

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Other less relevant matches:

Low match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Low match PALLISTER-HALL SYNDROME; PHS


Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).

PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about PALLISTER-HALL SYNDROME; PHS

Low 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

Low match EWING SARCOMA


Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

Low match CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY


Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder (see this term)caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.

CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY Is also known as antiplasmin deficiency|plasmin inhibitor deficiency

Related symptoms:

  • Pain
  • Bruising susceptibility
  • Hematuria
  • Abnormal bleeding
  • Bone pain


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL ALPHA2-ANTIPLASMIN 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 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 Respiratory tract infection

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Neuroblastoma and Respiratory tract infection. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality Abnormality of the kidney Strabismus Leukemia Respiratory failure Global developmental delay Cryptorchidism Downslanted palpebral fissures Feeding difficulties Short stature Atrial septal defect Low-set ears Growth delay Respiratory insufficiency Micrognathia Depressed nasal bridge Acute lymphoblastic leukemia Otitis media Abnormal heart morphology Medulloblastoma Patent ductus arteriosus Diarrhea Muscular hypotonia Ventricular septal defect Fever Hypospadias Hydronephrosis Macrocephaly Generalized hypotonia Depressivity

Rare Symptoms - Less than 30% cases


Vomiting Cafe-au-lait spot Anal atresia Joint hypermobility Choanal atresia Abnormality of the face Prominent nose Sloping forehead Cleft upper lip Convex nasal ridge Primitive neuroectodermal tumor Renal agenesis Lymphoma Constipation Joint laxity Abnormality of the hair Rhabdomyosarcoma Hypertelorism Scoliosis Hearing impairment High palate Delayed speech and language development Hyperreflexia Sarcoma Wide anterior fontanel Frontal bossing Weight loss Neurofibromas Renal dysplasia Pes planus Jaundice Single transverse palmar crease Abnormality of the musculature Carcinoma Meningioma Nausea High forehead Posteriorly rotated ears Headache Low anterior hairline Abnormality of the pinna Macrotia Small nail Precocious puberty Ataxia Microcephaly Short nose Narrow palate Sleep apnea Polydactyly Dysphagia Abnormality of the genital system Aganglionic megacolon Respiratory distress Dyspnea Arrhythmia Hemiplegia Syndactyly Poor coordination Obstructive sleep apnea Micropenis Renal cyst Cardiorespiratory arrest Hypoplasia of dental enamel Cleft palate Intrauterine growth retardation Intellectual disability, moderate Heterotopia Retrognathia Hyperactivity Ptosis Apnea Cataract Muscle weakness Immunodeficiency Failure to thrive Pneumonia Intestinal obstruction Irregular hyperpigmentation Hypercalcemia Abnormality of the thorax Hemiplegia/hemiparesis Ewing sarcoma Tracheoesophageal fistula Peripheral neuroepithelioma Bone pain Neoplasm of the peripheral nervous system Intracranial hemorrhage Hemothorax Reduced euglobulin clot lysis time Abnormality of the eye Persistent bleeding after trauma Limitation of joint mobility Joint hemorrhage Histiocytosis Ecchymosis Gingival bleeding Abnormality of the metaphysis Bruising susceptibility Subcutaneous nodule Gingival overgrowth Skin ulcer Osteolysis Abnormal umbilical stump bleeding Neoplasm of the skin Abnormal bleeding Abnormal intestine morphology Hematuria Intramuscular hematoma Recurrent infections Burkitt lymphoma Short 4th metacarpal Mesoaxial polydactyly Hypothalamic hamartoma Laryngeal cleft Radial head subluxation Hydrometrocolpos Hypoplasia of the epiglottis Mandibular aplasia Bilateral choanal atresia Microphallus Vaginal atresia Rib fusion Panhypopituitarism Decreased circulating cortisol level Upper airway obstruction Microglossia Mesoaxial hand polydactyly Adrenal hypoplasia Postaxial foot polydactyly Abnormal lung lobation Oligodactyly Hypopituitarism Hamartoma Natal tooth External genital hypoplasia Mesomelia Hydroureter Ectopic kidney Adrenal insufficiency Bilateral cryptorchidism Atresia of the external auditory canal Thyroid dysgenesis Y-shaped metacarpals Chronic myelogenous leukemia Upper limb undergrowth Myeloid leukemia Leukocytosis Pleural effusion Paraplegia Paralysis Anemia Choroid plexus carcinoma Choroid plexus papilloma Papilloma Osteosarcoma Broad ribs Choanal stenosis Broad neck Papilledema Loss of consciousness Distal urethral duplication Abnormality of the skeletal system Bifid epiglottis Preductal coarctation of the aorta Distal shortening of limbs Midline facial capillary hemangioma Mesoaxial foot polydactyly Diverticulosis of trachea Talipes equinovarus Increased intracranial pressure Hydrocephalus Neoplasm of the lung Midface retrusion Delayed eruption of teeth Macroglossia Hypertrichosis Ankylosis Dilated cardiomyopathy Abnormality of the skull Acute kidney injury Episodic vomiting Proximal tubulopathy Exercise-induced myalgia Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Progressive proximal muscle weakness Ketosis Myoglobinuria Drowsiness Fatigable weakness Rhabdomyolysis Abnormal corpus callosum morphology Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Stridor Back pain Polycystic kidney dysplasia Slurred speech Easy fatigability Poor head control Mutism Ragged-red muscle fibers Hyperammonemia Abnormality of the renal tubule Loss of ability to walk Pancreatitis Glutaric acidemia Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism 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 Arthralgia of the hip Acute pancreatitis Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Spastic tetraparesis Scapular winging Neoplasm of the pancreas Edema Myalgia Proximal muscle weakness Elevated hepatic transaminase Hypoglycemia Difficulty walking Arthralgia Acidosis Gait ataxia Elevated serum creatine phosphokinase Areflexia Encephalopathy Congestive heart failure Myopathy Cardiomyopathy Hypertrophic cardiomyopathy Fatigue Gait disturbance Tremor Dysarthria Hepatomegaly Motor delay Spasticity Benign neoplasm of the central nervous system Abnormality of connective tissue Abnormal sacrum morphology Fibroma Gingival fibromatosis Bone cyst Chondrocalcinosis Telecanthus Hyperlordosis Exercise intolerance Gliosis Type I diabetes mellitus Cardiac arrest Clonus Leukodystrophy Decreased liver function Anorexia Left ventricular hypertrophy Pachygyria Tetraparesis Cardiomegaly Waddling gait Aciduria Increased serum lactate Generalized muscle weakness Abnormality of the liver Tetraplegia Muscle cramps Coma Metabolic acidosis Hepatic steatosis Pulmonary hypoplasia Lactic acidosis Joint hyperflexibility Limb muscle weakness Nausea and vomiting Congenital cataract Abnormality of the cerebral white matter Lethargy Cutaneous syndactyly Scrotal hypoplasia Abnormal cornea morphology Holoprosencephaly T-cell lymphoma Mandibular prognathia Prominent forehead Ventriculomegaly Optic atrophy Nystagmus Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract Pollakisuria Neonatal hypotonia B lymphocytopenia Decrease in T cell count Abnormal hair quantity Glioma Abnormality of chromosome stability Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Acute leukemia Hearing abnormality Anal stenosis Coarse facial features Conductive hearing impairment Freckling Pointed chin Enlarged cisterna magna High anterior hairline Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Large hands Nephroblastoma Redundant skin Reduced number of teeth Cutis laxa Abnormal dermatoglyphics Accelerated skeletal maturation Narrow face Aggressive behavior Abnormal vertebral morphology Lymphedema Tall stature Clumsiness Apraxia Overgrowth Vesicoureteral reflux Hypodontia High, narrow palate Genu valgum Hypermetropia Dolichocephaly Autoimmune hemolytic anemia Long nose Advanced eruption of teeth Hypoventilation Snoring Triangular mouth Abnormality of temperature regulation Neoplasm of the central nervous system Central hypoventilation Abnormal pupil morphology Hypoxemia Chronic lung disease Abnormality of the endocrine system Chronic constipation Hypothermia Abnormality of the mouth Polycythemia Ganglioneuroblastoma Polyphagia Abnormal autonomic nervous system physiology Increased body weight Abnormal lung morphology Abnormality of the cardiovascular system Cyanosis Postural instability Low-set, posteriorly rotated ears Anxiety Hyperhidrosis Obesity Cognitive impairment Ganglioneuroma Abnormality of the autonomic nervous system Non-midline cleft lip Primary amenorrhea Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Lymphopenia Sinusitis Telangiectasia Bronchiectasis Chronic diarrhea Recurrent urinary tract infections Cutaneous photosensitivity Hypercapnia Amenorrhea Neurodegeneration Hemolytic anemia Small for gestational age Prominent nasal bridge Attention deficit hyperactivity disorder Mental deterioration Abnormality of the nervous system Upslanted palpebral fissure Recurrent respiratory infections Thrombocytopenia Short neck Skeletal muscle atrophy Long foot Cavum septum pellucidum Microretrognathia Phonophobia Dyscalculia Chorioretinal dystrophy Keloids Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Tethered cord Broad distal phalanx of finger Vascular ring Nasolacrimal duct obstruction Pheochromocytoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyslexia Short attention span Hypoplastic iliac wing Low hanging columella Capillary hemangioma Self-mutilation Patellar dislocation Duplication of phalanx of hallux Bifid uterus Shawl scrotum Abnormality of cardiovascular system morphology Hemivertebrae Renal hypoplasia Postaxial hand polydactyly Limb undergrowth Decreased testicular size Nail dysplasia Growth hormone deficiency Bifid uvula Postaxial polydactyly Toe syndactyly Hip dislocation Microtia Microphthalmia Agoraphobia Anteverted nares Brachydactyly Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Overweight Dislocated radial head Oxycephaly Epicanthus Gastroesophageal reflux Polyhydramnios Proptosis Autism Narrow mouth Glaucoma Agenesis of corpus callosum Clinodactyly of the 5th finger Delayed skeletal maturation Pectus excavatum Abnormality of the dentition Wide nasal bridge Hypertension EEG abnormality Flexion contracture Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Teratoma Hamartomatous polyposis Overbite Abnormal glucose tolerance Periventricular leukomalacia Thin upper lip vermilion Deeply set eye Congenital glaucoma Broad thumb Truncal obesity Delayed cranial suture closure Broad hallux Impulsivity Laryngomalacia Recurrent upper respiratory tract infections Bicuspid aortic valve Spina bifida occulta Exotropia Stereotypy Dental crowding Long eyelashes Mitral regurgitation Feeding difficulties in infancy Low posterior hairline Coarctation of aorta Dental malocclusion Hypoplasia of the maxilla Recurrent fractures Highly arched eyebrow Iris coloboma Hirsutism Thick eyebrow Unsteady gait Pulmonic stenosis Coloboma Postnatal growth retardation 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 Abnormality of the skeletal system and Large fontanelles, related diseases and genetic alterations Ventricular septal defect and Abnormality of the pinna, related diseases and genetic alterations

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