Anemia, and Elevated serum creatine phosphokinase

Diseases related with Anemia and Elevated serum creatine phosphokinase

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


Top matches:

Low match HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY


Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.

HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY Is also known as aconitase deficiency|iscu myopathy|iron-sulfur cluster deficiency myopathy|myopathy with deficiency of succinate dehydrogenase and aconitase|myopathy with exercise intolerance, swedish type|myoglobinuria due to abnormal glycolysis

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Respiratory distress
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY

Low match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

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 GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Low match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Low match PRIMARY HYPEREOSINOPHILIC SYNDROME


PRIMARY HYPEREOSINOPHILIC SYNDROME Is also known as neoplastic hypereosinophilic syndrome|hes-m|primary hes|hes-n|clonal hypereosinophilic syndrome

Related symptoms:

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Leukemia
  • Bone marrow hypocellularity


SOURCES: ORPHANET MENDELIAN

More info about PRIMARY HYPEREOSINOPHILIC SYNDROME

Low match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY


Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy|md-ebs|ebs-md|mdebs|limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis
  • Anemia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

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

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Fatigue Dilatation Short stature Muscle cramps Dysarthria Growth delay Intellectual disability Increased muscle fatiguability Dilated cardiomyopathy Splenomegaly Dystonia Skeletal muscle atrophy Stroke Hemolytic anemia Myoglobinuria Rhabdomyolysis Exercise intolerance

Rare Symptoms - Less than 30% cases


Gait disturbance Cataract Obsessive-compulsive behavior Abnormality of the musculature Dysphasia Motor axonal neuropathy Respiratory failure Tics Personality disorder Memory impairment Hypertrophic cardiomyopathy Spasticity Thrombocytopenia Global developmental delay Left ventricular hypertrophy Myalgia Hypertonia Proximal muscle weakness Acidosis Limb muscle weakness Exercise-induced myoglobinuria Mitochondrial myopathy Restlessness Stroke-like episode Respiratory distress Dyspnea Motor delay Cerebellar atrophy Acanthocytosis Atrial fibrillation Arrhythmia Cerebral atrophy Progressive muscle weakness Ophthalmoparesis Peripheral neuropathy Babinski sign Hepatomegaly Abnormal pyramidal sign Behavioral abnormality Tachycardia Depressivity Abnormal facial shape Areflexia Anxiety Pneumonia Ichthyosis Muscular dystrophy Lactic acidosis Chorea Hepatosplenomegaly Generalized-onset seizure Myoclonus Dyskinesia Abnormal lactate dehydrogenase activity Hyporeflexia of upper limbs Caudate atrophy Abnormal corpus striatum morphology Recurrent singultus Blood group antigen abnormality Hypoplasia of dental enamel Abnormal facial expression Facial palsy Abnormality of the astrocytes Ptosis Alopecia Scarring Papule Ventricular hypertrophy Abnormal blistering of the skin Nail dystrophy Carious teeth Nail dysplasia Ophthalmoplegia Hypotrichosis Ventricular fibrillation Abnormal social behavior Confusion Hallucinations Involuntary movements Neuronal loss in central nervous system Parkinsonism Sensory neuropathy Paresthesia Lower limb muscle weakness Cardiac arrest Abnormality of movement Abnormality of the cerebral white matter Mental deterioration Elevated hepatic transaminase Rigidity Hyperhidrosis Dementia Sensorimotor neuropathy Sleep apnea Impaired temperature sensation Bipolar affective disorder Generalized limb muscle atrophy Hyporeflexia of lower limbs Excessive salivation Orofacial dyskinesia Supraventricular tachycardia Left bundle branch block Ventricular extrasystoles Insomnia Ventricular arrhythmia Impaired pain sensation Impaired vibration sensation in the lower limbs Bowel incontinence Sensory axonal neuropathy Ventricular tachycardia Emotional lability Personality changes Abnormality of dental enamel Glutaric aciduria Mutism Postural instability Apraxia Nephrotic syndrome Bilateral sensorineural hearing impairment Specific learning disability Aciduria Progressive cerebellar ataxia Metabolic acidosis Status epilepticus Nephropathy Hepatic failure Joint hyperflexibility Muscular hypotonia of the trunk Proteinuria Hypogonadism Pancytopenia Progressive neurologic deterioration Visual loss Recurrent myoglobinuria Steroid-resistant nephrotic syndrome Scanning speech Tubular atrophy Glomerulopathy Generalized amyotrophy Focal segmental glomerulosclerosis Rapid neurologic deterioration Hypergonadotropic hypogonadism Glomerulonephritis Glomerulosclerosis Failure to thrive in infancy Hyperextensible skin Ragged-red muscle fibers Oculomotor apraxia Rod-cone dystrophy Encephalopathy Palmoplantar hyperkeratosis Aplasia/Hypoplasia of the skin Increased connective tissue Hypoplastic fingernail Echolalia Nemaline bodies Lipoma Fatigable weakness Skin vesicle Scarring alopecia of scalp Milia Aphasia Keratitis Neonatal respiratory distress Abnormality of mitochondrial metabolism Dermal atrophy Oculomotor nerve palsy Hyperconvex fingernails Renal insufficiency Ataxia Intellectual disability, mild Optic atrophy Hyperreflexia Sensorineural hearing impairment Failure to thrive Nystagmus Scoliosis Muscle flaccidity Hearing impairment Generalized hypotonia Punctate keratitis Congestive heart failure Decreased miniature endplate potentials Urethral stricture Severe postnatal growth retardation Hypothyroidism Dysphagia Easy fatigability Increased mean platelet volume Abnormal platelet morphology Upgaze palsy Congenital miosis Pain Flexion contracture Blindness Vomiting Jaundice Arthritis Corneal opacity Nausea and vomiting Nausea Cerebral visual impairment Cholelithiasis Abnormal thrombocyte morphology Polycythemia Reticulocytosis Gout Nonspherocytic hemolytic anemia Dark urine Increased total bilirubin Gastric ulcer Exercise-induced muscle cramps Increased muscle glycogen content Reduced erythrocyte 2,3-diphosphoglycerate concentration Strabismus Ventriculomegaly Hydrocephalus Cerebellar hypoplasia Miosis Dyslexia Hematuria Phonic tics Increased serum lactate Palpitations Sideroblastic anemia Decreased activity of mitochondrial complex I Increased intramyocellular lipid droplets Subsarcolemmal accumulations of abnormally shaped mitochondria Decreased activity of mitochondrial complex II Decreased activity of mitochondrial complex III Abnormal iron deposition in mitochondria Cardiomegaly Aspiration EMG abnormality Aspiration pneumonia Abetalipoproteinemia Headache Asplenia Prominent nose Subarachnoid hemorrhage Abnormality of coagulation Purpura Hypocalcemia Epistaxis Hypotelorism Migraine Severe short stature Abnormal bleeding Bruising susceptibility Neurological speech impairment Skin rash Deeply set eye High forehead Polymicrogyria Renal cyst Abnormality of vitamin B12 metabolism Wormian bones Joint laxity Intellectual disability, moderate Hip dislocation Dry skin Flat face Delayed eruption of teeth Macroglossia Limb undergrowth Broad-based gait Omphalocele Clumsiness Hoarse voice Increased body weight Congenital hip dislocation Coxa vara Constipation Leukemia Abnormality of circulating enzyme level Abnormal mast cell morphology Mastocytosis Endocardial fibrosis Eosinophilia Bone marrow hypocellularity Increased T3/T4 ratio Hypercholesterolemia No permanent dentition Thyroid hormone receptor defect Long thorax Drowsiness Congenital hypothyroidism Relative macrocephaly Skeletal dysplasia Delayed skeletal maturation Mitral valve prolapse Posterior embryotoxon Tetraparesis Hemiparesis Exotropia Leukoencephalopathy Cerebral palsy Drooling Ischemic stroke Hemiplegia Intracranial hemorrhage Cerebral hemorrhage Cortical dysplasia Opisthotonus Visual field defect Limb dystonia Hypoplasia of the iris Anteverted nares Perivascular spaces Talipes equinovarus Macrocephaly Depressed nasal bridge Hypertelorism Antenatal intracerebral hemorrhage Spastic hemiparesis Schizencephaly Transient ischemic attack Pontocerebellar atrophy Hemianopia Primitive reflex Porencephalic cyst Nuclear cataract Facial paralysis Crescentic glomerulonephritis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Cardiomyopathy and Anal atresia, related diseases and genetic alterations Muscle weakness and Peripheral neuropathy, related diseases and genetic alterations Hypertension and Polyhydramnios, related diseases and genetic alterations Cataract and Myopia, related diseases and genetic alterations Abnormal facial shape and Hypertension, related diseases and genetic alterations

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