Neuroblastoma, and Thrombocytopenia

Diseases related with Neuroblastoma and Thrombocytopenia

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


Top matches:

Medium match PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM


PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM Is also known as platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|fpd/aml

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hernia
  • Hypospadias
  • Umbilical hernia


SOURCES: OMIM MENDELIAN

More info about PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM

Medium 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

Medium 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

Mendelian

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

Learn more

Other less relevant matches:

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match BLUE RUBBER BLEB NEVUS


Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.

BLUE RUBBER BLEB NEVUS Is also known as brbn|bean syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Pain
  • Anemia
  • Thrombocytopenia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLUE RUBBER BLEB NEVUS

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low 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

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Low match RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2


Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2

Low match THROMBOCYTOPENIA 4; THC4


THROMBOCYTOPENIA 4; THC4 Is also known as thrombocytopenia, autosomal dominant, 4

Related symptoms:

  • Thrombocytopenia
  • Abnormality of the kidney


SOURCES: OMIM MESH MENDELIAN

More info about THROMBOCYTOPENIA 4; THC4

Top 5 symptoms//phenotypes associated to Neuroblastoma and Thrombocytopenia

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Leukemia Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Bruising susceptibility Leukopenia Weight loss Hernia Hemolytic anemia Headache Intellectual disability Fever Myelodysplasia Global developmental delay Short stature Microcephaly

Rare Symptoms - Less than 30% cases


Cutaneous photosensitivity Sloping forehead Amenorrhea Primary amenorrhea Respiratory insufficiency Neoplasm of the liver Convex nasal ridge Hypogonadism Immunodeficiency Small for gestational age Lymphopenia Attention deficit hyperactivity disorder Abnormality of the nervous system Prominent nasal bridge Glioma Polyneuropathy Cognitive impairment Clinodactyly Splenomegaly Postnatal growth retardation Sparse hair Vomiting Edema Cardiomyopathy Triangular face Nausea and vomiting Cryptorchidism Abnormality of blood and blood-forming tissues Cataract Abnormal facial shape Sensorineural hearing impairment Strabismus Nystagmus Clumsiness Intrauterine growth retardation Medulloblastoma Long nose Short neck Rigidity Depressed nasal bridge Fatigue Sarcoma Coma Lymphadenopathy Confusion Pathologic fracture Hepatosplenomegaly Respiratory failure Recurrent infections Seizures Bone pain Acute monocytic leukemia Acute leukemia Acute lymphoblastic leukemia Acute myeloid leukemia Prolonged bleeding time Lymphoma Abnormal bleeding Hypospadias Peripheral neuropathy Abdominal pain Carcinoma Subcutaneous nodule Dysarthria Tremor Abnormality of the liver Ataxia Micrognathia High forehead Obesity Truncal obesity Cortical gyral simplification Inguinal hernia Babinski sign Intussusception Severe short stature Multiple enchondromatosis Pes cavus Ectopic kidney High pitched voice Sensory axonal neuropathy Bilateral cryptorchidism Unilateral renal agenesis Cerebellar medulloblastoma Midface retrusion Increased circulating gonadotropin level Cerebellar vermis atrophy Intestinal bleeding Spasticity Failure to thrive Long neck Ventriculomegaly Gastrointestinal stroma tumor Multinodular goiter Chronic lung disease Melena Abnormality of lipid metabolism Long philtrum Venous malformation Shuffling gait Gastrointestinal infarctions Misalignment of teeth Low hanging columella Dysdiadochokinesis Postural tremor Acanthosis nigricans Slurred speech Hypermetropia Broad nasal tip Hypothyroidism Sensory neuropathy Falls Long face Dysmetria Synophrys Dilated cardiomyopathy Progressive cerebellar ataxia Short philtrum Gait disturbance Abnormal pyramidal sign Retinopathy Hearing impairment Mandibular prognathia Delayed speech and language development Micropenis Renal agenesis Goiter Broad-based gait Deeply set eye Short chin Bone marrow hypocellularity Hypergonadotropic hypogonadism Diabetes mellitus Insulin resistance Abnormal lung morphology Renal hypoplasia Decreased testicular size Epidermal acanthosis Hypoplasia of the corpus callosum Hypotelorism Bradykinesia Pigmentary retinopathy Limb undergrowth Chronic disseminated intravascular coagulation Apraxia Nausea Hepatomegaly Esophageal varix Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Hyperphosphaturia Chondrocalcinosis High nonceruloplasmin-bound serum copper Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Hypoparathyroidism Hepatocellular carcinoma Joint swelling Arthropathy Osteomalacia Acute hepatitis Mixed demyelinating and axonal polyneuropathy Global brain atrophy Hypercalcemia Internal hemorrhage Embryonal neoplasm Neoplasm of the central nervous system Teratoma Oculomotor nerve palsy Renal neoplasm Poor appetite Ovarian neoplasm Nephroblastoma Hemiplegia Kayser-Fleischer ring Cerebral palsy Cranial nerve paralysis Hematuria Irritability Hydrocephalus Hypertension Abnormal erythrocyte morphology Autoimmunity Atypical or prolonged hepatitis Glycosuria Oral-pharyngeal dysphagia Dysphagia Anxiety Rectal prolapse Peripheral axonal neuropathy Paresthesia Poor speech Infertility Abnormality of the cerebral white matter Pruritus Aggressive behavior Proteinuria Arthritis Joint hypermobility Elevated hepatic transaminase Difficulty walking Jaundice Arthralgia Osteoporosis Dementia Depressivity Cerebral atrophy Dystonia Cirrhosis Hepatic failure Personality changes Spontaneous abortion Abnormality of mitochondrial metabolism Hypercalciuria Back pain Abnormality of the hand Schizophrenia Drooling Leukoencephalopathy Nephrocalcinosis Aminoaciduria Muscle stiffness Hepatic steatosis Increased body weight Decreased liver function Nephrolithiasis Involuntary movements Cholestasis Osteoarthritis Progressive neurologic deterioration Psychosis Hepatitis Ascites Cavernous hemangioma Multiple lentigines Visceral angiomatosis Autoimmune hemolytic anemia Rhabdomyosarcoma Abnormality of chromosome stability Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Hearing abnormality Anal stenosis Abnormality of the musculature Decrease in T cell count Freckling Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Abnormal hair quantity B lymphocytopenia Abnormality of the hair Low-set ears Atrial septal defect Ventricular septal defect Downslanted palpebral fissures Myopia Brachydactyly Epicanthus Feeding difficulties High palate Ptosis Pollakisuria Hypertelorism Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Low anterior hairline Sinusitis Intellectual disability, mild Menorrhagia Muscle weakness Acute promyelocytic leukemia Chronic pain Night sweats Ecchymosis Gingival bleeding Myeloid leukemia Petechiae Pancytopenia Skeletal muscle atrophy Scarring Dyspnea Respiratory distress Refractory anemia Impaired platelet aggregation Purpura Epistaxis Neutropenia Umbilical hernia Cleft palate Diarrhea Cafe-au-lait spot Neurodegeneration Telangiectasia Bronchiectasis Chronic diarrhea Recurrent urinary tract infections Abnormality of the face Choanal atresia Otitis media Prominent nose Cleft upper lip Pneumonia Anal atresia Mental deterioration Intellectual disability, moderate Hydronephrosis Retrognathia Macrotia Hyperactivity Upslanted palpebral fissure Recurrent respiratory infections Congestive heart failure Dilatation Chronic lymphatic leukemia Asymmetry of the thorax Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Schwannoma Loose anagen hair Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Juvenile myelomonocytic leukemia Pectus excavatum of inferior sternum Male infertility Hypermelanotic macule Volvulus Arteriovenous malformation Abnormality of the respiratory system Abnormality of the mouth Abnormality of the vasculature Renal cell carcinoma Iron deficiency anemia Microcytic anemia Abnormality of coagulation Gonadal neoplasm Hemangioma Gastrointestinal hemorrhage Nevus Skin rash Hyperhidrosis Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Abnormality of the vertebral column Cystic hygroma Abnormality of cardiovascular system morphology Hypertrophic cardiomyopathy Abdominal distention High, narrow palate Facial asymmetry Pulmonic stenosis Hypotrichosis Broad forehead Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Kyphoscoliosis Webbed neck Gastroesophageal reflux Polyhydramnios Proptosis Posteriorly rotated ears Rod-cone dystrophy Constipation Abnormal heart morphology Patent ductus arteriosus Pectus excavatum Dental malocclusion Wide intermamillary distance Neurofibromas Pterygium Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Poor suck Coarctation of aorta Arnold-Chiari malformation Bicuspid aortic valve Azoospermia Plagiocephaly Lymphedema Amblyopia Left ventricular hypertrophy Low posterior hairline Ventricular hypertrophy Abnormality of the kidney



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Arachnodactyly, related diseases and genetic alterations Intellectual disability, severe and Hemolytic anemia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more