Neuroblastoma, and Muscular dystrophy

Diseases related with Neuroblastoma and Muscular dystrophy

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


Top matches:

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R


Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R Is also known as autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|lgmd2r

Related symptoms:

  • Muscular dystrophy


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R

Low match GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX


Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). Genetic Heterogeneity of Chronic Granulomatous DiseaseChronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD (OMIM ), caused by mutation in the CYBA gene (OMIM ); autosomal recessive cytochrome b-positive CGD type I (OMIM ), caused by mutation in the NCF1 gene (OMIM ); autosomal recessive cytochrome b-positive CGD II (OMIM ), caused by mutation in the NCF2 gene (OMIM ); and autosomal recessive cytochrome b-positive CGD type III (OMIM ), caused by mutation in the NCF4 gene (OMIM ).A similar syndrome, termed neutrophil immunodeficiency syndrome (OMIM ), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (OMIM ).

GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX Is also known as cytochrome b-negative granulomatous disease, chronic, x-linked|cgd|chronic granulomatous disease, x-linked

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Mendelian

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

Learn more

Other less relevant matches:

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 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND


Related symptoms:

  • Cardiomyopathy
  • Hyperkeratosis
  • Scarring
  • Muscular dystrophy
  • Papule


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND

Low match EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7


Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).For a discussion of genetic heterogeneity of EDMD, see {310300}.

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Cardiomyopathy
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7

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 LYNCH SYNDROME


LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J


Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J Is also known as lgmd2j|muscular dystrophy, limb-girdle, type 2j

Related symptoms:

  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Distal muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J

Top 5 symptoms//phenotypes associated to Neuroblastoma and Muscular dystrophy

Symptoms // Phenotype % cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Generalized hypotonia Microcephaly Growth delay Depressed nasal bridge Global developmental delay Micrognathia Abnormal facial shape Cataract Intellectual disability Cryptorchidism Low-set ears Intrauterine growth retardation Epicanthus Renal cyst Limb-girdle muscular dystrophy Myelodysplasia Acute lymphoblastic leukemia Ambiguous genitalia Dandy-Walker malformation Rhabdomyosarcoma Wide nose Muscular hypotonia Premature chromatid separation Small for gestational age High forehead Clinodactyly Hypospadias Short nose Ventriculomegaly Proximal muscle weakness Nephroblastoma Flexion contracture Hepatomegaly Colon cancer Carcinoma Intestinal polyposis Apnea Immunodeficiency Ventricular septal defect Splenomegaly Hypoglycemia Abnormality of the kidney Macroglossia Multiple cafe-au-lait spots Umbilical hernia Overgrowth Omphalocele Atrioventricular canal defect Premature birth Abnormality of the outer ear Abnormality of the face Abnormality of immune system physiology Aplasia/Hypoplasia of the cerebellum Abnormality of vision Sleep apnea Psoriasiform dermatitis Large for gestational age Aplasia/Hypoplasia of the corpus callosum Supernumerary nipple Syringomyelia Central hypotonia Aortic regurgitation Coarse facial features Polydactyly Abnormal lung lobation Vaginal neoplasm Muscle weakness Plantar hyperkeratosis Atrial fibrillation Skin vesicle Abnormal blistering of the skin Pruritus Nail dystrophy Papule Scarring Nevus flammeus Bradycardia Hyperkeratosis Epidermoid cyst Abnormality of the skull Increased nuchal translucency Abnormal aortic morphology Stomach cancer Subvalvular aortic stenosis Neck muscle weakness Abnormality of the upper limb Proximal amyotrophy Strabismus Patent ductus arteriosus Duodenal atresia Inguinal hernia Arrhythmia Progressive muscle weakness Abdominal wall defect Enlarged kidney Amaurosis fugax Gastrointestinal hemorrhage Memory impairment Hallucinations Increased intracranial pressure Breast carcinoma Hemiplegia/hemiparesis Basal cell carcinoma Visual field defect Ovarian neoplasm Hepatocellular carcinoma Neoplasm of the pancreas Pituitary adenoma Prostate cancer Dysgraphia Leiomyosarcoma Dyskinesia Pancreatic adenocarcinoma Glioblastoma multiforme Agnosia Neoplasm of the thyroid gland Benign neoplasm of the central nervous system Neoplasm of the skeletal system Abnormality of creatine metabolism Neoplasm of the rectum Cardiac diverticulum Urinary tract neoplasm Myopathy Elevated serum creatine phosphokinase Distal muscle weakness EMG: myopathic abnormalities Migraine Paresthesia Neonatal hypoglycemia Dysarthria Abnormality of the vasculature Skin tags Diastasis recti Hemihypertrophy Visceromegaly Abnormality of earlobe Tethered cord Microretrognathia Anterior creases of earlobe Embryonal neoplasm Prune belly Auricular pit Postauricular pit Visual impairment Gait disturbance Nausea and vomiting Fatigue Hypertonia Behavioral abnormality Depressivity Constipation Abdominal pain Weight loss Anxiety Developmental regression Irritability Abnormal pyramidal sign Attention deficit hyperactivity disorder Neurological speech impairment Malabsorption Holoprosencephaly Low-set, posteriorly rotated ears Osteolysis Malar flattening Recurrent Serratia marcescens infections Recurrent E. coli infections Absence of bactericidal oxidative respiratory burst in phagocytes Negative nitroblue tetrazolium reduction test Recurrent Burkholderia cepacia infections Deficiency or absence of cytochrome b(-245) Hypertelorism Nystagmus Wide nasal bridge Anteverted nares Short neck Hydrocephalus Long philtrum Midface retrusion Recurrent Klebsiella infections Cerebellar hypoplasia Agenesis of corpus callosum Posteriorly rotated ears Upslanted palpebral fissure Brachycephaly Micropenis Feeding difficulties in infancy Postnatal growth retardation Leukemia Severe global developmental delay Generalized tonic-clonic seizures Generalized myoclonic seizures Amenorrhea Bladder carcinoma Recurrent Aspergillus infections Intellectual disability, profound Pulmonary fibrosis Recurrent infections Thrombocytopenia Pneumonia Hepatosplenomegaly Lymphadenopathy Sepsis Inflammatory abnormality of the skin Aspiration Recurrent pneumonia Recurrent skin infections Glomerulonephritis Intestinal obstruction Osteomyelitis Increased antibody level in blood Decreased activity of NADPH oxidase Colitis Cellulitis Pulmonary infiltrates Peritonitis Granulomatosis Eczematoid dermatitis Recurrent bacterial skin infections Rectal abscess Chorioretinitis Liver abscess Discoid lupus rash Lymphadenitis Recurrent Staphylococcus aureus infections Oligohydramnios Primary amenorrhea Finger clinodactyly Corneal opacity Intellectual disability, mild Microphthalmia Abnormality of cardiovascular system morphology Abnormal heart morphology Delayed skeletal maturation Clinodactyly of the 5th finger Glaucoma Hypothyroidism Polyhydramnios Deeply set eye Abnormality of the eye Craniosynostosis Blepharophimosis Dolichocephaly Abnormality of the skeletal system Abnormality of skin pigmentation Long face Bulbous nose Ascites Triangular face Growth hormone deficiency Sloping forehead Coarctation of aorta Short palpebral fissure Depressed nasal ridge Rhizomelia Cafe-au-lait spot Multicystic kidney dysplasia Atrial septal defect Frontal bossing Hyperpigmentation of the skin Bruising susceptibility Sarcoma Bifid scrotum Combined immunodeficiency Severe intrauterine growth retardation Multiple renal cysts Acute leukemia Mild microcephaly Short sternum Triangular mouth Cerebral hypoplasia Embryonal rhabdomyosarcoma Hypodysplasia of the corpus callosum Pain Hematuria Downslanted palpebral fissures Abnormal bleeding Bone pain Intracranial hemorrhage Gingival bleeding Ecchymosis Histiocytosis Joint hemorrhage Persistent bleeding after trauma Intramuscular hematoma Abnormal umbilical stump bleeding Hemothorax Reduced euglobulin clot lysis time Hearing impairment Cognitive impairment Transient myeloproliferative syndrome



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Umbilical hernia, related diseases and genetic alterations Motor delay and Thrombocytopenia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more