Neuroblastoma, and Atopic dermatitis

Diseases related with Neuroblastoma and Atopic dermatitis

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


Top matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Low match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

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Other less relevant matches:

Low match ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1


Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 Is also known as as1|asrt1

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1

Low match ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2


Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 Is also known as asrt2

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2

Low match ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5


Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 Is also known as asrt5

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5

Low match ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7


Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7

Low match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Low match IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B


IMD11B is an autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia (summary by Ma et al., 2017).

IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B Is also known as atopic dermatitis, elevated ige, and eosinophilia

Related symptoms:

  • Recurrent infections
  • Pneumonia
  • Asthma
  • Lymphoma
  • Decreased antibody level in blood


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B

Low match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Top 5 symptoms//phenotypes associated to Neuroblastoma and Atopic dermatitis

Symptoms // Phenotype % cases
Inflammatory abnormality of the skin Common - Between 50% and 80% cases
Asthma Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Cough Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Wheezing Hydrocephalus Neoplasm Nystagmus Intellectual disability Large for gestational age Abnormal facial shape Premature birth Coarse facial features Inguinal hernia Ventricular septal defect Hepatomegaly Cryptorchidism Proptosis Growth delay Blindness

Rare Symptoms - Less than 30% cases


Narrow palate Dysphagia Generalized hyperpigmentation Myopia Macrocephaly Curly hair Thick upper lip vermilion Frontal bossing Ventriculomegaly Dysarthria Anteverted nares Short neck Cardiomyopathy Atrial septal defect Edema Abnormality of the dentition Short nose Long philtrum Abnormal mitral valve morphology Depressed nasal bridge Epicanthus Hypertelorism Abnormality of the testis Arnold-Chiari type I malformation Seizures Global developmental delay Short stature Generalized hypotonia Scoliosis Failure to thrive Abnormality of cardiovascular system morphology Micrognathia Muscular hypotonia Ptosis Low-set ears High palate Feeding difficulties Delayed speech and language development Deep palmar crease Cerebral atrophy Hernia Hyperpigmentation of the skin Sleep disturbance Joint hypermobility Redundant skin Hyperextensible skin Poor suck Thick vermilion border Relative macrocephaly High, narrow palate Full cheeks Pulmonic stenosis Nevus Webbed neck Hemangioma Growth hormone deficiency Cutis laxa Decreased body weight Cafe-au-lait spot Lymphedema Astigmatism Failure to thrive in infancy Pectus excavatum Gastroesophageal reflux Abnormal heart morphology Delayed skeletal maturation Posteriorly rotated ears Hyperhidrosis Hyperextensibility of the finger joints Cerebral cortical atrophy Hyperkeratosis Polyhydramnios Neurodevelopmental delay Hypermetropia Heart murmur Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Feeding difficulties in infancy Irritability Sparse hair Pectus carinatum Pleural effusion Osteopenia Downslanted palpebral fissures Woolly hair Anterior creases of earlobe Syringomyelia Central hypotonia Enlarged kidney Neonatal hypoglycemia Abnormality of earlobe Hearing impairment Macroglossia Cataract Vomiting Malar flattening Carcinoma Leukemia Abnormality of skin pigmentation Overgrowth Apnea Lymphoma Dry skin Anemia Recurrent infections Glaucoma Respiratory failure Postnatal growth retardation Respiratory tract infection Ichthyosis Abnormality of the kidney Eczema Lymphopenia Myelodysplasia Osteosarcoma Cleft palate Splenomegaly Hypoglycemia Postural instability Umbilical hernia Neurofibromas Pneumothorax Multiple palmar creases Loose anagen hair Macrocephaly at birth Fragile nails Pneumonia Oral aversion Multiple plantar creases Enlarged cerebellum Eyelid fasciculation Myofiber disarray Thickened nuchal skin fold Abnormality of the auditory canal Inappropriate crying Megalencephaly Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Decreased antibody level in blood Eosinophilia Vitreomacular adhesion Choroid plexus papilloma Arrhythmia Absent speech Renal insufficiency Neonatal sepsis Microscopic hematuria Intellectual disability, mild Myopathy Respiratory insufficiency Bladder carcinoma Colitis Talipes equinovarus Abnormality of the skeletal system Hypertension Motor delay Cognitive impairment T-cell lymphoma Ulcerative colitis Cardiomyocyte hypertrophy Hyperkeratosis pilaris Alveolar rhabdomyosarcoma Tendon rupture Gastrointestinal dysmotility Large forehead Abnormal aortic valve morphology Subvalvular aortic stenosis Verrucae Central apnea Thickened helices Slow-growing hair Congenital neuroblastoma Thickened Achilles tendon Excessive wrinkled skin Abnormality of refraction Systolic heart murmur Abnormal myocardium morphology Delayed CNS myelination Lack of skin elasticity Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Abnormality of the pulmonary artery Abnormality of hair texture Embryonal rhabdomyosarcoma Optic nerve dysplasia Tongue thrusting Barrel-shaped chest Functional abnormality of the gastrointestinal tract Progeroid facial appearance Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Large earlobe Patchy alopecia Lymphangiectasis Abnormal tricuspid valve morphology Abnormality of the optic disc Achilles tendon contracture Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Multifocal atrial tachycardia Severe postnatal growth retardation Pes cavus Duodenal ulcer Capillary malformation Abnormal dermatoglyphics Bladder neoplasm Acanthosis nigricans Abnormality of the fingernails Short chin Abnormality of dental enamel Abnormal pulmonary valve morphology Ulnar deviation of the wrist Triangular mouth Bilateral cryptorchidism Pointed chin Hypoplastic toenails Hoarse voice Body odor Abnormality of the hair Tricuspid regurgitation Rocker bottom foot Hyperglycemia Melena Wide anterior fontanel Asymmetric septal hypertrophy Arnold-Chiari malformation Hypoplasia of teeth Rhabdomyosarcoma Fasting hypoglycemia Broad femoral neck Schwannoma Limited elbow movement Broad philtrum Fetal distress Aortic aneurysm Laryngomalacia Bronchomalacia Papilloma Pyloric stenosis Infantile muscular hypotonia Large face Thin nail Deep plantar creases Hematemesis Hydrops fetalis Long eyelashes Concave nail Vestibular Schwannoma Redundant neck skin Wide nose Tachycardia Joint hyperflexibility Delayed puberty Arthrogryposis multiplex congenita Frontal hirsutism Wide mouth Intellectual disability, moderate Ascites Deep-set nails Joint laxity Abnormality of the nervous system Obstructive sleep apnea Kyphoscoliosis Hypogonadism Osteoporosis Severe short stature Hematuria Soft skin Reduced subcutaneous adipose tissue Epidermal acanthosis Hypoplasia of dental enamel Postprandial hyperglycemia Shyness Hypopnea Atrial fibrillation Concentric hypertrophic cardiomyopathy Thick lower lip vermilion Transitional cell carcinoma of the bladder Keratoconus Tetraplegia Apraxia Mitral valve prolapse Hip dysplasia Rhabdomyolysis Abnormality of the skin Ganglioneuroblastoma Sepsis Ulnar deviation of finger Tracheomalacia Labial hypoplasia Myocardial infarction Short attention span Inflammatory abnormality of the eye Malar rash Leukocoria Soft tissue sarcoma Leiomyosarcoma Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Buphthalmos Fibrosarcoma Astrocytoma Acute monocytic leukemia Anemia of inadequate production Chromosome breakage Uveitis Acute myeloid leukemia Cellulitis Sarcoma Increased intracranial pressure Glioblastoma multiforme Burkitt lymphoma Skin rash Pineoblastoma Kyphosis Behavioral abnormality Congestive heart failure Hypertonia Intellectual disability, severe Optic atrophy Ataxia Neuroblastic tumors Retinal calcification Vitritis Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Anorexia Weight loss Depressivity Recurrent skin infections Patent ductus arteriosus Hypospadias Erythroid dysplasia Folliculitis Protein-losing enteropathy Severe intrauterine growth retardation Autoimmune hemolytic anemia Erythroderma Abnormal intestine morphology Renal cyst Bronchiectasis Abnormal lung morphology Neutropenia Hemolytic anemia Lymphadenopathy Hypothyroidism Immunodeficiency Diarrhea Intrauterine growth retardation Polydactyly Omphalocele Visual loss Abdominal wall defect Headache Visual impairment Pain Microcephaly Postauricular pit Auricular pit Prune belly Embryonal neoplasm Tethered cord Abnormality of the face Visceromegaly Hemihypertrophy Diastasis recti Skin tags Abnormality of the vasculature Nevus flammeus Supernumerary nipple Psoriasiform dermatitis Abnormality of the outer ear Thrombocytopenia Encephalopathy Abnormality of the gastrointestinal tract Abnormality of vision Cubitus valgus Melanocytic nevus Ectropion Scaling skin Sparse eyebrow Bilateral ptosis Brittle hair Deep philtrum Palmoplantar hyperkeratosis Obsessive-compulsive behavior Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Sparse eyelashes Abnormality of the nail Chronic otitis media Absent eyebrow Cerebral visual impairment Anal stenosis Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Abnormal eyelash morphology Alopecia of scalp Poor appetite Underdeveloped supraorbital ridges Submucous cleft hard palate Open bite Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Aspiration Thickened skin Clinodactyly of the 5th finger Abnormality of the eye Abnormality of the cerebral white matter Dolichocephaly Nail dystrophy Pruritus Neurological speech impairment Abnormal cardiac septum morphology Scarring Erythema Telecanthus Genu valgum Aggressive behavior Hydronephrosis EEG abnormality Macrotia High forehead Autism Prominent forehead Alopecia Constipation Hypotrichosis Peripheral axonal neuropathy Open mouth Dental malocclusion Hemiparesis Fine hair Low posterior hairline Coarctation of aorta Cardiomegaly Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Intestinal malrotation Long face Vesicoureteral reflux Abnormal bleeding Abdominal distention Palmoplantar keratoderma Hepatic steatosis Retinal dystrophy Bruising susceptibility Bulbous nose Falls Increased corneal curvature



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