Immunodeficiency, and Neuroblastoma

Diseases related with Immunodeficiency and Neuroblastoma

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

Top matches:

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

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

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

Other less relevant matches:

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

HCV, which is principally transmitted by blood, infects about 3% of the world's population. HCV infection causes acute hepatitis, which is self-resolving in 20 to 50% of cases but does not confer permanent immunity. In 50 to 80% of cases, HCV infection becomes chronic and results in chronic hepatitis, cirrhosis, and hepatocellular carcinoma. As a result, HCV infection is a leading killer worldwide and the most common cause of liver failure in the U.S. HCV is opportunistic in individuals infected with human immunodeficiency virus (HIV; see {609423}), approximately 25% of whom are coinfected with HCV. HCV infection is also associated with cryoglobulinemia (see {123550}), a B-lymphocyte proliferative disorder (Pawlotsky, 2004; Chisari (2005); Pileri et al., 1998).

HEPATITIS C VIRUS, SUSCEPTIBILITY TO Is also known as hcv, susceptibility to

Related symptoms:

  • Immunodeficiency
  • Carcinoma
  • Cirrhosis
  • Hepatic failure
  • Hepatitis


SOURCES: OMIM MENDELIAN

More info about HEPATITIS C VIRUS, SUSCEPTIBILITY TO

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

Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

Related symptoms:

  • Neoplasm
  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC CD4 LYMPHOCYTOPENIA

Top 5 symptoms//phenotypes associated to Immunodeficiency and Neuroblastoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Lymphopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Lymphoma Otitis media Intellectual disability Convex nasal ridge Carcinoma Leukemia Hemolytic anemia Delayed speech and language development Chronic diarrhea Cataract Failure to thrive Intellectual disability, moderate Hearing impairment Cafe-au-lait spot Hypothyroidism Anemia Global developmental delay Autoimmune hemolytic anemia Decreased antibody level in blood Recurrent infections Thrombocytopenia Microcephaly Ataxia Recurrent respiratory infections Diarrhea Pneumonia Micrognathia

Rare Symptoms - Less than 30% cases

Autism Generalized hypotonia Seizures Hodgkin lymphoma Lymphadenopathy Cognitive impairment Recurrent upper respiratory tract infections Pancytopenia Broad thumb Inflammatory abnormality of the skin Tremor Rhabdomyosarcoma Glioma Medulloblastoma Recurrent sinusitis Exotropia Meningioma Scoliosis Chronic lung disease Deeply set eye Abnormality of the kidney Pectus excavatum Postnatal growth retardation Atrial septal defect Joint hypermobility Frontal bossing Splenomegaly Low hanging columella Papilloma High palate Low-set ears Cryptorchidism Hypoplasia of the maxilla Abnormal facial shape Strabismus Narrow mouth Downslanted palpebral fissures Recurrent otitis media Truncal obesity Prominent nasal bridge Goiter Sloping forehead Cutaneous photosensitivity Hypospadias Dysdiadochokinesis Hyperactivity Respiratory failure Bronchiectasis Telangiectasia Sinusitis Low anterior hairline Small for gestational age Skeletal muscle atrophy Diabetes mellitus Intrauterine growth retardation Retrognathia Muscle weakness Long nose Prominent nose Attention deficit hyperactivity disorder Abnormal lung morphology Combined immunodeficiency Palmoplantar hyperkeratosis Melanoma Breast carcinoma Increased intracranial pressure Hemangioma Incoordination Drooling Intracranial hemorrhage Broad-based gait Hand polydactyly Cranial nerve paralysis Hypopigmented skin patches Multiple lipomas Melanocytic nevus Hamartoma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Hypotelorism Thyroiditis Apraxia Ovarian neoplasm Hyperthyroidism Acute myeloid leukemia Cutis marmorata Multiple cafe-au-lait spots Cellulitis Cystic hygroma Epidermal acanthosis Renal hypoplasia Insulin resistance Abnormality of the thyroid gland Macule Neoplasm of the skin Shuffling gait Hypergonadotropic hypogonadism Cortical gyral simplification Postural tremor Unilateral renal agenesis Bilateral cryptorchidism Sensory axonal neuropathy High pitched voice Ectopic kidney Lipoma Brachydactyly Motor delay Slurred speech Pain Hypertelorism Cerebellar vermis atrophy Long neck Abnormality of lipid metabolism Gastrointestinal stroma tumor Increased circulating gonadotropin level Multinodular goiter Myopia Macrocephaly Gynecomastia Nausea and vomiting Subcutaneous nodule Intention tremor Overgrowth Bone marrow hypocellularity Macroglossia Abnormal cerebellum morphology Misalignment of teeth Polymicrogyria Papule Hydrocephalus Proximal muscle weakness Dilatation Headache Short chin Acanthosis nigricans Kyphosis Intellectual disability, mild Myopathy Leukopenia Palmoplantar keratoderma Thyroid adenoma Abnormality of the vasculature Inflammation of the large intestine Brain neoplasm Villous atrophy Clubbing of fingers Exocrine pancreatic insufficiency Autoimmune thrombocytopenia Fatigable weakness IgA deficiency Colitis Interstitial pulmonary abnormality Clubbing Cor pulmonale Abnormal intestine morphology Purpura Conjunctivitis Type I diabetes mellitus Asthma Neutropenia Autoimmunity Arthritis Hepatosplenomegaly Verrucae Immune dysregulation Lobular carcinoma in situ Cryoglobulinemia Opportunistic infection Bronchiolitis obliterans Bronchiolitis Squamous cell carcinoma Psoriasiform dermatitis Kaposi's sarcoma Coombs-positive hemolytic anemia Sarcoma Acute hepatitis Chronic hepatitis IgM deficiency Hepatocellular carcinoma Hepatitis Hepatic failure Cirrhosis Recurrent bacterial infections Burkitt lymphoma Follicular hyperplasia Generalized lymphadenopathy Interstitial pneumonitis Gastritis Congestive heart failure Multiple trichilemmomata Papilledema Bone cyst Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Intestinal polyposis Colonic diverticula Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Megalencephaly Skin tags Prolactin excess Adenoma sebaceum Subcutaneous lipoma Merkel cell skin cancer Acrokeratosis Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Mucosal telangiectasiae Abnormality of the penis Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Pigmentary retinopathy Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Bradykinesia Dysarthria Limb undergrowth Behavioral abnormality Glaucoma Agenesis of corpus callosum Constipation Clinodactyly of the 5th finger Delayed skeletal maturation Abnormal heart morphology Arrhythmia Patent ductus arteriosus Syndactyly Abnormality of the dentition Proptosis Respiratory distress Ventricular septal defect Dysphagia Wide nasal bridge Hyperreflexia Epicanthus Hypertension Flexion contracture Ptosis Polydactyly Polyhydramnios Progressive vitiligo Hirsutism Aganglionic megacolon Mitral regurgitation Low posterior hairline Coarctation of aorta Dental malocclusion Recurrent fractures Single transverse palmar crease Highly arched eyebrow Iris coloboma Thick eyebrow Gastroesophageal reflux Unsteady gait Pulmonic stenosis Coloboma Abnormality of the pinna Feeding difficulties in infancy Joint laxity EEG abnormality Thin upper lip vermilion Pes planus Muscular hypotonia Mastoiditis Long eyelashes Cleft upper lip Cachexia Recurrent pneumonia Abnormality of the hair Recurrent urinary tract infections Abnormality of the face Choanal atresia Primary amenorrhea Amenorrhea Neurodegeneration Anal atresia Premature ovarian insufficiency Mental deterioration Abnormality of the nervous system Hydronephrosis Macrotia Upslanted palpebral fissure Respiratory insufficiency Short neck Depressed nasal bridge Cleft palate Deep philtrum Abnormality of neuronal migration Malar prominence Abnormality of chromosome stability Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Recurrent sinopulmonary infections Non-midline cleft lip B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Acute leukemia Hearing abnormality Acute lymphoblastic leukemia Anal stenosis Abnormality of the musculature Freckling Hypoplasia of dental enamel Dental crowding Decreased testicular size Gait disturbance Inguinal hernia Clinodactyly Obesity Hernia Midface retrusion Long philtrum Cardiomyopathy Hypoplasia of the corpus callosum Ventriculomegaly Peripheral neuropathy Pes cavus Sensorineural hearing impairment Nystagmus 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 Babinski sign Severe short stature Premature thelarche Synophrys Renal agenesis Progressive cerebellar ataxia Broad nasal tip Triangular face Polyneuropathy Sensory neuropathy Falls Long face Dysmetria Hypermetropia Hypogonadism Dilated cardiomyopathy Short philtrum Abnormal pyramidal sign Retinopathy Sparse hair Rigidity High forehead Mandibular prognathia Micropenis Deviated nasal septum Narrow maxilla Stereotypy Dislocated radial head Short attention span Hypoplastic iliac wing Capillary hemangioma Obstructive sleep apnea Self-mutilation Patellar dislocation Poor coordination Overweight Shawl scrotum Neurofibromas Flared iliac wings Congenital glaucoma Delayed cranial suture closure Broad hallux Impulsivity Laryngomalacia Bicuspid aortic valve Spina bifida occulta Narrow palate Wide anterior fontanel Dyslexia Abnormality of refraction Large foramen magnum Frontal upsweep of hair Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Dyscalculia Chorioretinal dystrophy Keloids Duane anomaly Prominent fingertip pads Bimanual synkinesia Avascular necrosis of the capital femoral epiphysis Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Tethered cord Phonophobia Broad distal phalanx of finger Nasolacrimal duct obstruction Abnormal cornea morphology Pheochromocytoma Bronchiolitis obliterans organizing pneumonia


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