Autoimmunity, and Elevated serum creatine phosphokinase

Diseases related with Autoimmunity and Elevated serum creatine phosphokinase

In the following list you will find some of the most common rare diseases related to Autoimmunity and Elevated serum creatine phosphokinase that can help you solving undiagnosed cases.


Top matches:

Low match THYROTOXIC PERIODIC PARALYSIS


Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY


Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.

DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY Is also known as dmgdh deficiency|dmg dehydrogenase deficiency

Related symptoms:

  • Fatigue
  • Abnormality of metabolism/homeostasis
  • Elevated serum creatine phosphokinase
  • Increased muscle fatiguability
  • Body odor


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY

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Other less relevant matches:

Low match INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2


INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2 Is also known as multisystem proteinopathy 2|msp2

Related symptoms:

  • Cognitive impairment
  • Skeletal muscle atrophy
  • Abnormality of the skeletal system
  • Myopathy
  • Behavioral abnormality


SOURCES: OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2

Low match NONAKA MYOPATHY; NM


NONAKA MYOPATHY; NM Is also known as myopathy, distal, with or without rimmed vacuoles|gne myopathy|inclusion body myopathy 2, autosomal recessive, formerly|ibm2, formerly|hibm|nonaka distal myopathy|inclusion body myopathy, quadriceps-sparing|qsm|inclusion body myopathy, hereditary, autosom

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Gait disturbance
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about NONAKA MYOPATHY; NM

Low match X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY


X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

Low match SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Low match MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE


Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (OMIM ), carnitine palmitoyltransferase deficiency (see {255110}), and the Creteil variety of phosphoglycerate kinase deficiency (OMIM ), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. (Ramesh and Gardner-Medwin, 1992).See {160010} for discussion of a possible autosomal dominant form of myglobinuria.Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (OMIM ), an autosomal dominant disorder.

MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE Is also known as rhabdomyolysis, acute recurrent|myoglobinuria, familial paroxysmal paralytic

Related symptoms:

  • Muscle weakness
  • Pain
  • Fever
  • Renal insufficiency
  • Areflexia


SOURCES: OMIM MESH MENDELIAN

More info about MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

Low match MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1


Autosomal recessive limb-girdle muscular dystrophy-1 affects primarily the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures (summary by Mercuri et al., 2005). Genetic Heterogeneity of Autosomal Recessive Limb-Girdle Muscular DystrophyAutosomal recessive LGMD is genetically heterogeneous.LGMDR2 (OMIM ), previously symbolized LGMD2B, is caused by mutation in the dysferlin gene (DYSF ) on 2p13. LGMDR3 (OMIM ), previously symbolized LGMD2D, is caused by mutation in the alpha-sarcoglycan gene (SGCA ) on 17q21. LGMDR4 (OMIM ), previously symbolized LGMD2E, is caused by mutation in the beta-sarcoglycan gene (SGCB ) on 4q12. LGMDR5 (OMIM ), previously symbolized LGMD2C, is caused by mutation in the gamma-sarcoglycan gene (SGCG ) on 13q12. LGMDR6 (OMIM ), previously symbolized LGMD2F, is caused by mutation in the delta-sarcoglycan gene (SGCD ) on 5q33. LGMDR7 (OMIM ), previously symbolized LGMD2G, is caused by mutation in the TCAP gene (OMIM ) on 17q12. LGMDR8 (OMIM ), previously symbolized LGMD2H, is caused by mutation in the TRIM32 gene (OMIM ) on 9q33. LGMDR9 (OMIM ), previously symbolized LGMD2I, is caused by mutation in the FKRP gene (OMIM ) on 19q13. LGMDR10 (OMIM ), previously symbolized LGMD2J, is caused by mutation in the titin gene (TTN ) on 2q31. LGMDR11 (OMIM ), previously symbolized LGMD2K, is caused by mutation in the POMT1 gene (OMIM ) on 9q34. LGMDR12 (OMIM ), previously symbolized LGMD2L, is caused by mutation in the ANO5 gene (OMIM ) on 11p14. LGMDR13 (OMIM ), previously symbolized LGMD2M, is caused by mutation in the FKTN gene (OMIM ) on 9q31. LGMDR14 (OMIM ), previously symbolized LGMD2N, is caused by mutation in the POMT2 gene (OMIM ) on 14q24. LGMDR15 (OMIM ), previously symbolized LGMD2O, is caused by mutation in the POMGNT1 gene (OMIM ) on 1p34. LGMDR16 (OMIM ), previously symbolized LGMD2P, is caused by mutation in the DAG1 gene (OMIM ) on 3p21. LGMDR17 (OMIM ), previously symbolized LGMD2Q, is caused by mutation in the PLEC1 gene (OMIM ) on 8q24. LGMDR18 (OMIM ), previously symbolized LGMD2S, is caused by mutation in the TRAPPC11 gene (OMIM ) on 4q35. LGMDR19 (OMIM ), previously symbolized LGMD2T, is caused by mutation in the GMPPB gene (OMIM ) on 3p21. LGMDR20 (OMIM ), previously symbolized LGMD2U, is caused by mutation in the ISPD gene (OMIM ) on 7p21. LGMDR21 (OMIM ), previously symbolized LGMD2Z, is caused by mutation in the POGLUT1 gene (OMIM ) on 3q13.Some forms of autosomal recessive LGMD were reclassified by Straub et al. (2018). LGMD2R was reclassified as a form of myofibrillar myopathy (MFM1 ). For forms previously designated LGMD2W, LGMD2X, and LGMD2Y, see {616827}, {616812}, and {617072}, respectively.For a discussion of autosomal dominant LGMD, see LGMDD1 (OMIM ).

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1 Is also known as lgmd2|muscular dystrophy, limb-girdle, type 2a|lgmd2a|muscular dystrophy, pelvofemoral|calpainopathy|leyden-moebius muscular dystrophy|muscular dystrophy, limb-girdle, type 2

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Difficulty walking


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

Low match OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD


OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD Is also known as muscular dystrophy, oculopharyngeal

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD

Top 5 symptoms//phenotypes associated to Autoimmunity and Elevated serum creatine phosphokinase

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Muscular dystrophy Uncommon - Between 30% and 50% cases
Myositis Uncommon - Between 30% and 50% cases
Hyperkalemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Elevated serum creatine phosphokinase. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Fever Rhabdomyolysis Ophthalmoparesis Proximal muscle weakness Rimmed vacuoles Gait disturbance Generalized muscle weakness Skeletal muscle atrophy Hyporeflexia Muscle fiber atrophy Myalgia

Rare Symptoms - Less than 30% cases


Visual impairment Mitochondrial myopathy Cognitive impairment Hepatomegaly Ptosis Dysarthria Ataxia Limb-girdle muscular dystrophy Distal muscle weakness Fatigue Dysphagia Global developmental delay Cardiomyopathy Renal insufficiency Visual loss Areflexia Dementia Abdominal pain Ophthalmoplegia Hypertrophic cardiomyopathy Pigmentary retinopathy Pain Inability to walk Mask-like facies Hyperreflexia Tremor Constipation Weight loss External ophthalmoplegia Muscle cramps Bilateral ptosis Goiter Facial palsy Prolonged QT interval Hyperthyroidism Thyroiditis Hashimoto thyroiditis Abnormality of peripheral nerve conduction EMG abnormality Hypertension Distal arthrogryposis Decreased nerve conduction velocity Left ventricular failure Vestibular dysfunction Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Cachexia Gait imbalance Retinal pigment epithelial atrophy Hypercalciuria Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Dysphasia Visual hallucinations Speech apraxia Proximal tubulopathy Renal tubular dysfunction Chronic kidney disease Spontaneous hematomas Adrenal insufficiency Leber optic atrophy Persistence of primary teeth Bundle branch block Writer's cramp Psychomotor deterioration Atrioventricular block Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Aphasia Tubulointerstitial nephritis Aortic dissection Abnormality of neuronal migration Amaurosis fugax Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Bifid scrotum Hypoparathyroidism Pulmonary embolism Heart block Xerostomia Primary adrenal insufficiency Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hemiplegia/hemiparesis Atopic dermatitis Focal segmental glomerulosclerosis Drowsiness Progressive external ophthalmoplegia Abnormality of immune system physiology Facial diplegia Transient ischemic attack Cardiorespiratory arrest Visual field defect Multiple lipomas Hemiplegia Delusions Aortic aneurysm Overlapping toe Basal ganglia calcification Vertebral fusion Abnormality of mitochondrial metabolism Hyponatremia Progressive sensorineural hearing impairment Personality changes Posterior subcapsular cataract Glomerulopathy Gastroparesis Abnormality of acid-base homeostasis Auditory hallucinations Rheumatoid arthritis Anterior uveitis Elevated C-reactive protein level Juvenile rheumatoid arthritis Joint swelling Uveitis Pericarditis Elevated erythrocyte sedimentation rate Pleural effusion Recurrent upper respiratory tract infections Falls Lymphadenopathy Skin rash Arthritis Hepatosplenomegaly Arthralgia Splenomegaly Serositis Acute kidney injury Neonatal hypotonia Calf muscle hypertrophy Neck muscle weakness Progressive muscle weakness Retinal degeneration Limb muscle weakness Calf muscle pseudohypertrophy Myofibrillar myopathy Proximal amyotrophy Eosinophilia Myoglobinuria Scapular winging Clumsiness Difficulty walking Flexion contracture Acute rhabdomyolysis Recurrent myoglobinuria Dark urine Malignant hyperthermia Autophagic vacuoles Pneumonia Abnormal nerve conduction velocity Abnormal mitochondrial morphology Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Paronychia Easy fatigability Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Homonymous hemianopia Episodic quadriplegia Generalized hypotonia Behavioral abnormality Deposits immunoreactive to beta-amyloid protein Morphological abnormality of the central nervous system Limb-girdle muscle weakness Alzheimer disease EMG: myopathic abnormalities Distal amyotrophy Frontotemporal dementia Centrally nucleated skeletal muscle fibers Abnormality of the skeletal system Bilateral intracranial calcifications Fish odor Abnormal enzyme/coenzyme activity Body odor Increased muscle fatiguability Abnormality of metabolism/homeostasis Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Growth abnormality Gingival overgrowth Hyperkinesis Respiratory insufficiency Congestive heart failure Diarrhea Vomiting Cerebellar atrophy Blindness Respiratory distress Short neck Ventriculomegaly Hypertonia Optic atrophy Peripheral neuropathy Motor delay Feeding difficulties Anemia Cataract Muscular hypotonia Sensorineural hearing impairment Abnormality of the dentition Dystonia Nystagmus Osteoporosis Acidosis Dyspnea Hypothyroidism Autism Gait ataxia Cerebral cortical atrophy Diabetes mellitus Hypogonadism Myoclonus Kyphosis Rod-cone dystrophy Cerebellar hypoplasia Delayed skeletal maturation Arrhythmia Encephalopathy Depressivity Cerebral atrophy Headache Failure to thrive Hypertelorism Jaundice Hypokalemia Periodic paralysis Urinary retention Graves disease Heat intolerance Hypomagnesemia Mildly elevated creatine phosphokinase Ventricular fibrillation Myotonia Muscle stiffness Postprandial hyperglycemia Palpitations Tetraplegia Tachycardia Lower limb muscle weakness Paralysis Proptosis Hyperhidrosis Obesity Abnormality of muscle fibers Impaired myocardial contractility Growth delay Decreased urinary potassium Microcephaly Hearing impairment Short stature Seizures Intellectual disability Thyrotoxicosis with toxic multinodular goitre Thyrotoxicosis with toxic single thyroid nodule Transient hypophosphatemia Episodic hypokalemia Shortened PR interval Thyrotoxicosis with diffuse goiter Second degree atrioventricular block Episodic flaccid weakness Respiratory paralysis Late-onset proximal muscle weakness Exercise-induced muscle fatigue Periodic hypokalemic paresis Increased intramyocellular lipid droplets Gastroesophageal reflux Photophobia Schizophrenia Nephrotic syndrome Hypertrichosis Hemiparesis Atrial fibrillation Ventricular hypertrophy Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Bilateral sensorineural hearing impairment Decreased body weight Generalized-onset seizure Abnormality of the cardiovascular system Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Memory impairment Increased serum lactate Involuntary movements Left ventricular hypertrophy Sensory impairment Exercise intolerance Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes Pancreatitis Macular degeneration Purpura Type I diabetes mellitus Anorexia Hypogonadotrophic hypogonadism Generalized hirsutism Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Migraine Sudden cardiac death EEG abnormality Abnormality of the liver Lethargy Generalized tonic-clonic seizures Pruritus Dilated cardiomyopathy Neurological speech impairment Stroke Attention deficit hyperactivity disorder Nyctalopia Erythema Congenital cataract Protruding ear Abnormality of the pinna Developmental regression Feeding difficulties in infancy Mental deterioration Apnea Proteinuria Anxiety Arthrogryposis multiplex congenita Carious teeth Generalized myoclonic seizures Lactic acidosis Abnormal cerebellum morphology Postural instability Coma Polyneuropathy Nephropathy Hirsutism Polymicrogyria Nausea Peripheral axonal neuropathy Nausea and vomiting Vertigo Ichthyosis Confusion Paresthesia Dysmetria Anal atresia Delayed puberty Malabsorption Progressive ptosis



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