Myopathy, and Burkitt lymphoma

Diseases related with Myopathy and Burkitt lymphoma

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


Top matches:

Low match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

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

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Other less relevant matches:

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

Low match TIBIAL MUSCULAR DYSTROPHY


Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.

TIBIAL MUSCULAR DYSTROPHY Is also known as distal myopathy, udd type|tardive tibial muscular dystrophy|finnish tibial muscular dystrophy|tmd|udd myopathy|distal titinopathy

Related symptoms:

  • Gait disturbance
  • Cardiomyopathy
  • Myopathy
  • Respiratory failure
  • Difficulty walking


SOURCES: ORPHANET OMIM MENDELIAN

More info about TIBIAL MUSCULAR DYSTROPHY

Low match DISTAL MYOPATHY, WELANDER TYPE


Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm

Related symptoms:

  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, WELANDER TYPE

Low match NEMALINE MYOPATHY 2; NEM2


Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

Low match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Low match EWING SARCOMA


Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

Low match RENAL CELL CARCINOMA, NONPAPILLARY; RCC


The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see {605074}) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996). Genetic Heterogeneity of Renal Cell CarcinomaGermline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene (OMIM ) and the HNF1B gene (OMIM ).Somatic mutations in renal cell carcinomas occur in the VHL gene (OMIM ), the TRC8 gene (OMIM ), the OGG1 gene (OMIM ), the ARMET gene (OMIM ), the FLCN gene (OMIM ), and the BAP1 gene (OMIM ).See also RCCX1 (OMIM ) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (OMIM ).For a discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ). Occurrence of Renal Cell Carcinoma in Other DisordersVon Hippel-Lindau syndrome (OMIM ) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported (OMIM ). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait (OMIM ) (Kovacs et al., 1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (OMIM ).Bertolotto et al. (2011) identified a missense mutation in the MITF (OMIM ) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8 ).

RENAL CELL CARCINOMA, NONPAPILLARY; RCC Is also known as hypernephroma|adenocarcinoma of kidney

Related symptoms:

  • Neoplasm
  • Hypertension
  • Obesity
  • Carcinoma
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CELL CARCINOMA, NONPAPILLARY; RCC

Top 5 symptoms//phenotypes associated to Myopathy and Burkitt lymphoma

Symptoms // Phenotype % cases
Lymphoma Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Burkitt lymphoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Leukemia Neoplasm Generalized hypotonia Falls Muscle weakness Scoliosis Meningioma Seizures Long philtrum Pain Intellectual disability Edema Cardiomyopathy Proximal muscle weakness Frontal bossing Pectus excavatum Failure to thrive Macrocephaly Muscular dystrophy Motor delay Muscular hypotonia Transient myeloproliferative syndrome EMG: myopathic abnormalities Hypertelorism

Rare Symptoms - Less than 30% cases


Mildly elevated creatine phosphokinase Dolichocephaly Hypoglycemia Delayed skeletal maturation Skeletal muscle atrophy Distal muscle weakness Elevated serum creatine phosphokinase Cystic hygroma Broad thumb Anemia Fever Renal cell carcinoma Obesity Hydrocele testis Pleural effusion Leukocytosis Hydrops fetalis Nevus Intracranial hemorrhage Subcutaneous nodule Cafe-au-lait spot Foot dorsiflexor weakness Diarrhea High palate Clumsiness Cataract Melanoma Limb-girdle muscular dystrophy Ataxia Large fontanelles Hamartomatous polyposis Telangiectasia Intestinal polyposis Arteriovenous malformation Lipoma Hashimoto thyroiditis Hamartoma Multiple cafe-au-lait spots Multiple lipomas Cutis marmorata Carcinoma Lymphedema Micrognathia Cryptorchidism Hypertension Microcephaly Hepatosplenomegaly Macrotia Triangular face Delayed speech and language development Abnormal facial shape Joint hypermobility Polyhydramnios Cognitive impairment Low-set, posteriorly rotated ears Anteverted nares Gait disturbance Posteriorly rotated ears Optic atrophy Atrial septal defect Thrombocytopenia Splenomegaly Feeding difficulties Dysphagia Cholestatic liver disease Dysarthria Cleft palate Weakness of long finger extensor muscles Quadriceps muscle weakness Ankle weakness Distal upper limb muscle weakness Increased muscle lipid content Flexion contracture Areflexia Talipes equinovarus Hyperlordosis Renal neoplasm Inability to walk Talipes Limb muscle weakness Arthrogryposis multiplex congenita Retinoblastoma Abnormality of the eye Respiratory insufficiency Apnea Facial palsy Neonatal hypotonia Micropenis Hyporeflexia Hypospadias Peroneal muscle atrophy Increased variability in muscle fiber diameter Proximal muscle weakness in lower limbs Endometrial carcinoma Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Follicular thyroid carcinoma Cutis marmorata telangiectatica congenita Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Fibroadenoma of the breast Enlarged cerebellum Centrally nucleated skeletal muscle fibers Clear cell renal cell carcinoma Rimmed vacuoles Generalized muscle weakness Steppage gait Papillary renal cell carcinoma Fibrosarcoma Difficulty walking Respiratory failure Small cell lung carcinoma Trichilemmoma Lobular carcinoma in situ Multiple trichilemmomata Cerebellar hemangioblastoma Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Polycythemia Respiratory insufficiency due to muscle weakness Waddling gait Chronic leukemia Elevated hepatic transaminase Arthralgia Kyphoscoliosis Therapeutic abortion Acidosis Cerebral cortical atrophy Abdominal pain Cerebral atrophy Abnormality of the liver Vomiting Cerebellar atrophy Morbilliform rash Hepatomegaly Nystagmus Late-onset distal muscle weakness Mitochondrial depletion Abnormality of the nervous system Skin rash Calf muscle pseudohypertrophy Blue sclerae Nuclear cataract Agenesis of cerebellar vermis Extramedullary hematopoiesis Normocytic anemia Severe failure to thrive Petechiae Hypoplastic anemia Underdeveloped nasal alae Malabsorption Aciduria Progressive cerebellar ataxia Metabolic acidosis Retinal dystrophy Lactic acidosis Glutathione synthetase deficiency Lymphadenopathy Severe hydrops fetalis Multiple pterygia Decreased fetal movement Renal cyst Primitive neuroectodermal tumor Pericardial effusion Ewing sarcoma Multiple joint contractures Peripheral neuroepithelioma Neoplasm of the peripheral nervous system Myopathic facies Rocker bottom foot Spinal rigidity Akinesia Congenital contracture Pterygium Adducted thumb Nephroblastoma Organic aciduria Frequent falls Bulbar palsy EMG: neuropathic changes Hand clenching Abnormality of the rib cage Neck flexor weakness Fluctuating hepatomegaly Fluctuating splenomegaly Normocytic hypoplastic anemia Weight loss Adenoma sebaceum Paralysis Paraplegia Fetal akinesia sequence Sarcoma Slender build Myeloid leukemia Type 1 muscle fiber predominance Nemaline bodies Neuroblastoma Acute lymphoblastic leukemia Chronic myelogenous leukemia Colonic diverticula Increased intracranial pressure Decreased proportion of CD4-positive T cells Proximal placement of thumb Abnormality of the spleen B-cell lymphoma Short attention span Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Overfolded helix Chylothorax Cubitus valgus Abnormality of the thorax Bilateral ptosis Failure to thrive in infancy Cholelithiasis Poor suck Deep philtrum Hypochromic microcytic anemia Prominent fingertip pads Torticollis Reduced factor X activity Narrow palate Tall stature Wide nose Joint hyperflexibility Neurological speech impairment Short nose Abnormality of the subarachnoid space Reduced prothrombin activity Broad toe Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Bicuspid aortic valve Vasculitis Cachexia Prominent forehead Pectus carinatum Sparse hair Postnatal growth retardation Feeding difficulties in infancy Joint laxity High forehead Gastroesophageal reflux Inguinal hernia Hypermetropia Abnormality of cardiovascular system morphology Respiratory distress Short neck Epicanthus Depressed nasal bridge Ptosis Strabismus Growth delay Broad forehead Pulmonic stenosis Bilateral single transverse palmar creases Hip dysplasia Aortic valve stenosis Hyperpigmentation of the skin Mitral regurgitation Fine hair Low posterior hairline Epistaxis Cyanosis Wide intermamillary distance Abnormality of the foot Esotropia Webbed neck Abnormal bleeding Ascites Highly arched eyebrow Thick vermilion border Bruising susceptibility Astigmatism Delayed gross motor development Aortic aneurysm Neoplasm of the central nervous system Dysdiadochokinesis Hyperthyroidism Acute myeloid leukemia Cellulitis Abnormality of the thyroid gland Macule Melanocytic nevus Hand polydactyly Incoordination Thyroiditis Palmoplantar hyperkeratosis Goiter Breast carcinoma Hypopigmented skin patches Hemangioma Drooling Cranial nerve paralysis Ovarian neoplasm Hodgkin lymphoma Lymphopenia Bone cyst Generalized hyperkeratosis Fibroma Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Ovarian cyst Scaphocephaly Astrocytoma Abnormality of the uterus Furrowed tongue Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Neoplasm of the skin Gynecomastia Irregular hyperpigmentation Abnormal large intestine morphology Intellectual disability, mild Hydrocephalus Tremor Myopia Brachydactyly Hearing impairment Neoplasm of the adrenal cortex Uterine neoplasm Immunodeficiency Abdominal wall muscle weakness Subcutaneous hemorrhage Neoplasm of the breast Visceral angiomatosis Thyroid carcinoma Angina pectoris Abnormality of the optic nerve Capillary hemangioma Kyphosis Headache Exotropia Palmoplantar keratoderma Chronic diarrhea Intention tremor Overgrowth Decreased antibody level in blood Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Polymicrogyria Dilatation Nausea and vomiting Papule Abnormality of the kidney Intellectual disability, moderate Hypothyroidism Narrow mouth Autism Recurrent infections Hemangioblastoma



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