Myopathy, and Lymphadenopathy

Diseases related with Myopathy and Lymphadenopathy

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


Top matches:

Medium match CARCINOID SYNDROME


A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.

CARCINOID SYNDROME Is also known as malignant carcinoid syndrome

Related symptoms:

  • Neoplasm
  • Myopathy
  • Elevated hepatic transaminase
  • Nausea and vomiting
  • Asthma


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARCINOID SYNDROME

Medium match POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1


Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Medium match COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY


Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

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Other less relevant matches:

Medium match COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY


Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Medium match CHOREOACANTHOCYTOSIS


Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

Medium 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 X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

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 MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B 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

Low match EARLY-ONSET FAMILIAL NONCIRRHOTIC PORTAL HYPERTENSION


Noncirrhotic portal hypertension is an autosomal recessive disorder characterized by onset of portal hypertension associated with hepatosplenomegaly in the first or second decades of life, in the absence of cirrhosis, known extrahepatic diseases, or splanchnic venous thrombosis. Liver function is normal, and the disorder is relatively benign (Vilarinho et al., 2016).

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET FAMILIAL NONCIRRHOTIC PORTAL HYPERTENSION

Top 5 symptoms//phenotypes associated to Myopathy and Lymphadenopathy

Symptoms // Phenotype % cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Failure to thrive Diarrhea Hepatomegaly Muscle weakness Seizures Pneumonia Fever Generalized hypotonia Elevated serum creatine phosphokinase Splenomegaly Malabsorption Abnormality of the liver Anemia Short stature Ataxia

Rare Symptoms - Less than 30% cases


Weight loss Autoimmunity Skin rash Abnormality of the nervous system Neoplasm Recurrent pneumonia Cerebral atrophy Nystagmus Fatigue Encephalitis Hypocalcemia Chronic diarrhea Sepsis Neutropenia Encephalopathy Depressivity Recurrent bacterial infections Abnormal facial shape Global developmental delay Amelogenesis imperfecta Episodic fever Dementia Anhidrosis Severe failure to thrive Cerebral cortical atrophy Abdominal pain Pyelonephritis Cataract Eczema Pain Protracted diarrhea Leukocytosis Asthma Nausea and vomiting Petechiae Difficulty in tongue movements Hair-pulling Triangular face Abnormality of urine homeostasis Phonic tics Caudate atrophy Distal upper limb muscle weakness Abnormal erythrocyte morphology Progressive cerebellar ataxia Abetalipoproteinemia Large fontanelles Nevus Mood changes Aciduria Muscle fiber atrophy Underdeveloped nasal alae Dysgraphia Blue sclerae Disinhibition Clumsiness Abnormal urinary color Kyphoscoliosis Progressive distal muscular atrophy Edema Arthralgia Nuclear cataract Hypoglycemia Low-set, posteriorly rotated ears Acidosis Posteriorly rotated ears Delayed skeletal maturation Obesity Vomiting Cerebellar atrophy Leukemia Retinal dystrophy Downslanted palpebral fissures Dolichocephaly Optic atrophy Low-set ears Microcephaly Intellectual disability Self-mutilation of tongue and lips due to involuntary movements Square-wave jerks Subcortical dementia Lactic acidosis Progressive choreoathetosis Metabolic acidosis Normocytic hypoplastic anemia Organic aciduria Abnormality of the tonsils Chronic otitis media Osteomyelitis Cellulitis Bronchitis Glossoptosis Agammaglobulinemia Cor pulmonale Myelopathy Abnormality of the lymphatic system Thymoma Pyoderma Recurrent cutaneous abscess formation Septic arthritis Epididymitis Recurrent skin infections Prostatitis Lymph node hypoplasia Enteroviral dermatomyositis syndrome Enteroviral hepatitis Hypertension Cirrhosis Gastrointestinal hemorrhage Cholestasis Venous thrombosis Portal hypertension Abnormality of the coagulation cascade Esophageal varix Portal fibrosis Rheumatoid arthritis Hypopigmented skin patches Cholestatic liver disease Delayed speech and language development Agenesis of cerebellar vermis Extramedullary hematopoiesis Normocytic anemia Hypoplastic anemia Glutathione synthetase deficiency Therapeutic abortion Chronic leukemia Morbilliform rash Fluctuating hepatomegaly Fluctuating splenomegaly Tics Hearing impairment Sensorineural hearing impairment Dilatation Conjunctivitis Alopecia Rod-cone dystrophy Arthritis Retinopathy Decreased antibody level in blood Otitis media Hepatitis Abnormal lung morphology Recurrent urinary tract infections Telangiectasia Sinusitis Skin ulcer Lymphopenia Meningitis Orofacial dyskinesia Abnormality of movement Acanthocytosis Hypohidrosis Dilated cardiomyopathy Progressive muscle weakness Psoriasiform dermatitis Progressive proximal muscle weakness Recurrent pharyngitis Gastrointestinal inflammation Pharyngitis Hemolytic anemia Nail dysplasia Nephrotic syndrome Hypoplasia of dental enamel Abnormality of dental enamel Proximal muscle weakness Sarcoma Autoimmune hemolytic anemia Hypoplasia of the iris Recurrent lower respiratory tract infections Intermittent diarrhea Spasticity Talipes equinovarus Pectus excavatum Difficulty walking Dry skin Ectodermal dysplasia Respiratory insufficiency due to muscle weakness Myalgia Congestive heart failure Progressive encephalopathy Increased serum serotonin Palpitations Heart murmur Epiphora Tricuspid regurgitation Episodic abdominal pain Neoplasm of the endocrine system Night sweats Carcinoid tumor Paraganglioma Rhinorrhea Right ventricular failure Chronic noninfectious lymphadenopathy Facial telangiectasia Cardiomyopathy Bronchospasm Lack of bowel sounds Hepatic necrosis Atypical pulmonary carcinoid tumor Pulmonary carcinoid tumor Intestinal carcinoid Erythematous plaque Small intestine carcinoid Abnormal B-type natriuretic peptide level Scoliosis Growth delay Ptosis Gowers sign Heat intolerance Acute hepatic failure Neuronal loss in central nervous system Dyskinesia Sensory neuropathy Neurodegeneration Sleep disturbance Ascites Generalized muscle weakness Abnormal bleeding Parkinsonism Gliosis Chorea Memory impairment Psychosis Abnormality of the foot Progressive neurologic deterioration Involuntary movements Vasculitis EMG abnormality Drooling Abnormality of vision Self-injurious behavior Personality changes Generalized amyotrophy Abnormality of the thyroid gland Protruding tongue Self-mutilation Abnormality of eye movement Limb muscle weakness Stomatitis Dystonia Recurrent aphthous stomatitis Hypoplasia of the thymus Cognitive impairment Feeding difficulties Peripheral neuropathy Dysarthria Skeletal muscle atrophy Tremor Gait disturbance Dysphagia Ventriculomegaly Behavioral abnormality Areflexia Generalized tonic-clonic seizures Hyporeflexia Recurrent respiratory infections Pes cavus Anxiety Aggressive behavior Hypertrophic cardiomyopathy Abnormality of the eye Mental deterioration Developmental regression Pallor Attention deficit hyperactivity disorder Neurological speech impairment Intrahepatic portal vein sclerosis



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