Neuroblastoma, and Pancytopenia

Diseases related with Neuroblastoma and Pancytopenia

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

Top matches:

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

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

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

Other less relevant matches:

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

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

Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.

COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY Is also known as combined immunodeficiency with childhood-onset kaposi sarcoma|combined immunodeficiency with impaired immunity to human herpes virus 8|combined immunodeficiency with impaired immunity to hhv-8|ox40 deficiency

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Respiratory tract infection
  • Pancytopenia
  • Sarcoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY

Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues (summary by Zhong et al., 2011).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Nail dystrophy
  • Abnormality of skin pigmentation
  • Nail dysplasia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3

Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6

Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormality of the dentition
  • Thrombocytopenia
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Top 5 symptoms//phenotypes associated to Neuroblastoma and Pancytopenia

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Bone marrow hypocellularity Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Thrombocytopenia Nail dystrophy Leukemia Immunodeficiency Aplastic anemia Oral leukoplakia Nail dysplasia Intrauterine growth retardation Abnormality of skin pigmentation Acute myeloid leukemia Diabetes mellitus Global developmental delay Splenomegaly Pulmonary fibrosis Hyperpigmentation of the skin Abnormality of the dentition Failure to thrive Carcinoma Short stature Recurrent infections Myelodysplasia

Rare Symptoms - Less than 30% cases

Chromosomal breakage induced by crosslinking agents Esophageal stenosis Abnormal lung morphology Esophageal stricture Chromosome breakage Cirrhosis Medulloblastoma Cerebellar hypoplasia Lymphadenopathy Short thumb Respiratory failure Lymphoma Abnormal intestine morphology Recurrent respiratory infections Hepatosplenomegaly Hypothyroidism Hearing impairment Cafe-au-lait spot Anal atresia Ataxia Osteoporosis Interstitial pneumonitis Cataract Sparse hair Acute monocytic leukemia Carious teeth Hepatic fibrosis Sarcoma Small for gestational age Alopecia Leukopenia Epiphora Lymphopenia Renal hypoplasia Chronic lung disease Postnatal growth retardation Respiratory tract infection Apraxia Squamous cell carcinoma Short chin Hypotelorism Sloping forehead Bradykinesia Squamous cell carcinoma of the tongue Pigmentary retinopathy Intellectual disability Limb undergrowth Epidermal acanthosis Increased circulating gonadotropin level Kaposi's sarcoma Truncal obesity Hypergonadotropic hypogonadism Goiter Slurred speech Dysdiadochokinesis Postural tremor Unilateral renal agenesis Bilateral cryptorchidism Sensory axonal neuropathy High pitched voice Ectopic kidney Insulin resistance Cortical gyral simplification Long nose Coombs-positive hemolytic anemia Cerebellar vermis atrophy Broad-based gait Cutaneous photosensitivity Abnormality of lipid metabolism Acanthosis nigricans Low hanging columella Misalignment of teeth Shuffling gait Glioma Multinodular goiter Gastrointestinal stroma tumor Long neck Seizures Palmoplantar keratoderma Microdontia Abnormality of female internal genitalia Aplasia/Hypoplasia of the skin Telangiectasia of the skin Aseptic necrosis Premature loss of teeth Abnormal eyelash morphology Blepharitis Neoplasm of the pancreas Abnormal eyebrow morphology Taurodontia Periodontitis White hair Abnormality of the testis Ridged nail Cellular immunodeficiency Macule Testicular atrophy Abnormality of the pharynx Squamous cell carcinoma of the skin Urethral stenosis Abnormality of neutrophils Aplastic/hypoplastic toenail Porokeratosis Rough bone trabeculation Nail pits Reticular hyperpigmentation Anorectal anomaly Congenital bullous ichthyosiform erythroderma Displacement of the external urethral meatus Palmar hyperkeratosis Skin vesicle Neurofibromas Small nail Hepatic failure Sparse scalp hair Telangiectasia Sparse eyelashes Pterygium Poikiloderma Nasolacrimal duct obstruction Decreased mean platelet volume Pterygium of nails Scoliosis Hepatomegaly Hyperhidrosis Hyperkeratosis Malabsorption Convex nasal ridge Hypermelanotic macule Recurrent fractures Hypodontia Hypoplasia of the maxilla Abnormal blistering of the skin Specific learning disability Cerebral calcification Skin ulcer Abnormality of the fingernails Neoplasm of the skin Hypopigmented skin patches Dermal atrophy Tracheoesophageal fistula Premature graying of hair Abnormality of coagulation Decreased testicular size Severe short stature Renal agenesis Purpura Autoimmunity Hemolytic anemia Neutropenia Asthma Decreased antibody level in blood Otitis media Inflammatory abnormality of the skin Recurrent otitis media Bronchiectasis Chronic diarrhea Type I diabetes mellitus Conjunctivitis Recurrent upper respiratory tract infections Pneumonia Clubbing Inflammation of the large intestine Combined immunodeficiency Interstitial pulmonary abnormality Colitis Autoimmune hemolytic anemia Recurrent sinusitis IgA deficiency Fatigable weakness Autoimmune thrombocytopenia Exocrine pancreatic insufficiency Clubbing of fingers Villous atrophy Arthritis Congestive heart failure Verrucae Petechiae Pain Fever Fatigue Respiratory distress Headache Weight loss Dyspnea Scarring Confusion Bruising susceptibility Coma Menorrhagia Myeloid leukemia Diarrhea Gingival bleeding Ecchymosis Night sweats Chronic pain Acute promyelocytic leukemia Hypertelorism Epicanthus Ventricular septal defect Short neck Atrial septal defect Abnormality of cardiovascular system morphology Nephroblastoma Embryonal neoplasm Brain neoplasm Cor pulmonale Progressive cerebellar ataxia Retinopathy Hernia Obesity Clinodactyly Inguinal hernia Babinski sign Pes cavus Hypogonadism Micropenis Mandibular prognathia High forehead Deeply set eye Rigidity Abnormal pyramidal sign Long philtrum Attention deficit hyperactivity disorder Short philtrum Prominent nasal bridge Dilated cardiomyopathy Hypermetropia Synophrys Dysmetria Long face Falls Sensory neuropathy Polyneuropathy Triangular face Broad nasal tip Midface retrusion Cardiomyopathy Immune dysregulation Acute leukemia IgM deficiency Gastritis Generalized lymphadenopathy Follicular hyperplasia Burkitt lymphoma Hydrocephalus Microphthalmia Corneal opacity Esotropia Horseshoe kidney Breast carcinoma Anteriorly placed anus Lipoma Peters anomaly Hypoplasia of the corpus callosum T-cell acute lymphoblastic leukemias Nystagmus Strabismus Sensorineural hearing impairment Abnormal facial shape Cryptorchidism Cognitive impairment Delayed speech and language development Peripheral neuropathy Dysarthria Tremor Gait disturbance Ventriculomegaly Absent lacrimal punctum


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