Myopathy, and Thrombocytopenia

Diseases related with Myopathy and Thrombocytopenia

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


Top matches:

Medium 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

Low 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

Low match STORMORKEN-SJAASTAD-LANGSLET SYNDROME


Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

STORMORKEN-SJAASTAD-LANGSLET SYNDROME Is also known as thrombocytopathy-asplenia-miosis syndrome|york platelet syndrome|thrombocytopathy, asplenia, and miosis|yps|stormorken syndrome

Related symptoms:

  • Short stature
  • Muscle weakness
  • Anemia
  • Fatigue
  • Myopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STORMORKEN-SJAASTAD-LANGSLET SYNDROME

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Other less relevant matches:

Low 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

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY


Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY

Low match ACYL-COA DEHYDROGENASE 9 DEFICIENCY


Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency|acad9 deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY

Low match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

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 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 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

Top 5 symptoms//phenotypes associated to Myopathy and Thrombocytopenia

Symptoms // Phenotype % cases
Muscular hypotonia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Acidosis Lactic acidosis Edema Diarrhea Short stature Anemia Encephalopathy Splenomegaly Elevated hepatic transaminase Hepatosplenomegaly Hypocalcemia Stroke Feeding difficulties in infancy Hypoglycemia Hepatomegaly Cardiomyopathy Decreased activity of mitochondrial respiratory chain Nystagmus Hypertension Growth delay Microcephaly Fatigue Lymphadenopathy Metabolic acidosis Pneumonia Recurrent infections Immunodeficiency Skin rash Abnormality of the liver Abnormal facial shape Fever Mitochondrial myopathy Global developmental delay

Rare Symptoms - Less than 30% cases


Hepatic failure Encephalitis Cerebral atrophy Vomiting Feeding difficulties Chronic diarrhea Sepsis Neutropenia Pectus excavatum Hepatic steatosis Pain Ascites Aciduria Triangular face Malabsorption Leukemia Low-set, posteriorly rotated ears Posteriorly rotated ears Downslanted palpebral fissures Optic atrophy Low-set ears Ataxia Organic aciduria Delayed speech and language development Esotropia Respiratory distress Ragged-red muscle fibers Motor delay Cataract Strabismus Intellectual disability Exercise intolerance Increased serum lactate Generalized muscle weakness Hypertrophic cardiomyopathy Congestive heart failure Cognitive impairment Severe lactic acidosis Severe failure to thrive Depressivity Abnormality of the nervous system High forehead Epistaxis Autoimmunity Amelogenesis imperfecta Recurrent pneumonia Recurrent bacterial infections Episodic fever Abnormal bleeding Bruising susceptibility Abnormality of the coagulation cascade Anhidrosis Headache Portal hypertension Dilatation Myalgia Cholestasis Elevated serum creatine phosphokinase Cirrhosis Pulmonary lymphangiectasia Lymphopenia Skin ulcer Arteritis Abnormality of the mediastinum Sinusitis Meningitis Conjunctivitis Hypopigmented skin patches Cafe-au-lait spot Monocytosis Agammaglobulinemia Recurrent cutaneous abscess formation Pyoderma Thymoma Abnormality of the lymphatic system Myelopathy Cor pulmonale Glossoptosis Recurrent skin infections Bronchitis Cellulitis Osteomyelitis Chronic otitis media Telangiectasia Broad toe Rheumatoid arthritis Prominent fingertip pads Decreased antibody level in blood Recurrent urinary tract infections Extramedullary hematopoiesis Glutathione synthetase deficiency Hypoplasia of olfactory tract Reduced factor XII activity Juvenile myelomonocytic leukemia Hypoplastic anemia Normocytic anemia Agenesis of cerebellar vermis Chronic leukemia Cholestatic liver disease Nuclear cataract Petechiae Reduced prothrombin activity Leukocytosis Reduced factor X activity Large fontanelles Therapeutic abortion Morbilliform rash Abnormal lung morphology Dementia Hepatitis Otitis media Abnormality of the tonsils Retinopathy Arthritis Weight loss Rod-cone dystrophy Fluctuating hepatomegaly Alopecia Reduced factor IX activity Sensorineural hearing impairment Neoplasm Hearing impairment Normocytic hypoplastic anemia Fluctuating splenomegaly Septic arthritis Chylothorax Epididymitis Bilateral ptosis Highly arched eyebrow Thick vermilion border Falls Joint hypermobility Astigmatism Abnormality of the foot Pleural effusion Webbed neck Abnormality of the thorax Pulmonic stenosis Cubitus valgus Overfolded helix Hypermetropia Proximal placement of thumb Lymphoma Failure to thrive in infancy Decreased muscle mass Fine hair Lymphedema Hydrops fetalis Aortic valve stenosis Bilateral single transverse palmar creases Mitral regurgitation Vasculitis Torticollis Wide intermamillary distance Bicuspid aortic valve Low posterior hairline Cyanosis Deep philtrum Poor suck Hip dysplasia Cholelithiasis Blue sclerae Broad forehead Prostatitis Hypochromic microcytic anemia B-cell lymphoma Gait disturbance Macrocephaly Abnormality of the spleen Epicanthus Depressed nasal bridge Ptosis Frontal bossing Cryptorchidism Hypertelorism Hyperpigmentation of the skin Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Short attention span Anteverted nares Neurodevelopmental delay Macrotia Abnormal eyebrow morphology Pectus carinatum Facial hypotonia Sparse hair Postnatal growth retardation Joint laxity Gastroesophageal reflux Short neck Polyhydramnios Prominent forehead Inguinal hernia Hydrocele testis Abnormality of cardiovascular system morphology Long philtrum Atrial septal defect Clumsiness Mental deterioration Underdeveloped nasal alae Difficulty walking Heat intolerance Progressive encephalopathy Gowers sign Respiratory insufficiency due to muscle weakness Ectodermal dysplasia Dry skin Talipes equinovarus Recurrent aphthous stomatitis Spasticity Congenital miosis Upgaze palsy Abnormal platelet morphology Increased mean platelet volume Increased muscle fatiguability Stomatitis Hypoplasia of the thymus Abnormal thrombocyte morphology External ophthalmoplegia Generalized aminoaciduria Episodic vomiting Hypothermia Progressive external ophthalmoplegia Hyponatremia Hypoalbuminemia Aminoaciduria Pyelonephritis Hyperbilirubinemia Polyneuropathy Ophthalmoplegia Jaundice Hyperreflexia Protracted diarrhea Miosis Stroke-like episode Periportal fibrosis Nail dysplasia Sarcoma Abnormality of dental enamel Hypohidrosis Hypoplasia of dental enamel Nephrotic syndrome Eczema Asthma Hypoplasia of the iris Hemolytic anemia Intrahepatic portal vein sclerosis Portal fibrosis Esophageal varix Venous thrombosis Gastrointestinal hemorrhage Autoimmune hemolytic anemia Recurrent lower respiratory tract infections Dyslexia Prominent nose Asplenia Subarachnoid hemorrhage Abnormality of the musculature Abnormality of coagulation Purpura Hypotelorism Migraine Intermittent diarrhea Ichthyosis Limb muscle weakness Neurological speech impairment Proximal muscle weakness Deeply set eye Severe short stature Micronodular cirrhosis Hepatocellular necrosis Nevus Premature ovarian insufficiency Skeletal myopathy Right ventricular hypertrophy Cardiorespiratory arrest Meningocele Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Abnormal electroretinogram Abnormal myelination Recurrent upper respiratory tract infections Easy fatigability Eosinophilia Tachypnea Corneal dystrophy Cardiac arrest 3-Methylglutaconic aciduria Fatty replacement of skeletal muscle Pulmonary arterial hypertension Abdominal pain Progressive cerebellar ataxia Retinal dystrophy Dolichocephaly Arthralgia Kyphoscoliosis Cerebral cortical atrophy Delayed skeletal maturation Inferior vermis hypoplasia Obesity Cerebellar atrophy Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Exercise-induced lactic acidemia Infantile axial hypotonia Hemiparesis Congenital cataract Abnormal conjugate eye movement Decreased liver function Generalized edema Acute hepatic failure Fatigable weakness EMG: myopathic abnormalities Infantile muscular hypotonia Hyperammonemia Left ventricular hypertrophy Cerebral edema Ventricular hypertrophy Sudden cardiac death Dilated cardiomyopathy Patent ductus arteriosus Renal insufficiency Depletion of mitochondrial DNA in liver Decreased plasma carnitine Prolonged prothrombin time Osteopenia Elevated plasma acylcarnitine levels Dyspnea Glaucoma Cerebellar hypoplasia Respiratory insufficiency Myopia Cerebellar hemorrhage Increased lactate dehydrogenase activity Proximal tubulopathy Elevated creatine kinase after exercise Nonketotic hypoglycemia Decreased activity of mitochondrial complex I Macrovesicular hepatic steatosis Dicarboxylic aciduria Microvesicular hepatic steatosis Abnormality of the subarachnoid space



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Arthralgia, related diseases and genetic alterations Arthritis and Inguinal hernia, related diseases and genetic alterations Macrocephaly and Dolichocephaly, related diseases and genetic alterations

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