Anemia, and Chorea

Diseases related with Anemia and Chorea

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


Top matches:

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0


Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Low match PAROXYSMAL EXERTION-INDUCED DYSKINESIA


Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

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

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Other less relevant matches:

Low match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-


Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Low match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Low match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

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 JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low match METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Chorea

Symptoms // Phenotype % cases
Dystonia Very Common - Between 80% and 100% cases
Dysarthria Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Choreoathetosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Chorea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment Involuntary movements Behavioral abnormality Intellectual disability Rigidity Generalized-onset seizure Depressivity Cardiomyopathy Ataxia Abnormality of movement Splenomegaly Thrombocytopenia Muscular hypotonia Respiratory distress Renal insufficiency Generalized hypotonia Neurodegeneration Dyskinesia Hemolytic anemia Hyperammonemia Immunodeficiency Dysphagia Slurred speech Optic atrophy Lethargy Diabetes mellitus Dementia Hypertonia Delayed speech and language development Obsessive-compulsive behavior Anxiety Clumsiness Failure to thrive Irritability Gait ataxia Coma Muscle weakness Spasticity Neutropenia Hyperreflexia Nausea and vomiting Tremor Myoclonus Pancreatitis Mental deterioration Aggressive behavior

Rare Symptoms - Less than 30% cases


Dilated cardiomyopathy Tics Acanthocytosis Motor axonal neuropathy Gait disturbance Atrial fibrillation Stroke Testicular atrophy Hepatosplenomegaly Elevated serum creatine phosphokinase Areflexia Arthritis Arrhythmia Nephropathy Personality disorder Congestive heart failure Fatigue Short stature Dehydration Abnormality of the cerebral white matter Muscle fibrillation Hyperkinesis Cerebral palsy Abnormality of extrapyramidal motor function Memory impairment Vomiting Parkinsonism Fever Restlessness Neuronal loss in central nervous system Weight loss Personality changes Confusion Rhabdomyolysis Myopathy Falls Intellectual disability, mild Paresthesia Sepsis Cerebral atrophy Peripheral neuropathy Emotional lability Ventricular fibrillation Insomnia Sensory axonal neuropathy Homocystinuria Bowel incontinence Impaired vibration sensation in the lower limbs Impaired pain sensation Ventricular arrhythmia Methylmalonic aciduria Ventricular extrasystoles Organic aciduria Bipolar affective disorder Cardiac arrest Left bundle branch block Supraventricular tachycardia Orofacial dyskinesia Excessive salivation Hyporeflexia of lower limbs Increased muscle fatiguability Generalized limb muscle atrophy Impaired temperature sensation Delayed CNS myelination Sleep apnea Left ventricular hypertrophy Sensorimotor neuropathy Tubulointerstitial abnormality Hyperuricemia Self-mutilation Gout Megaloblastic anemia Dyslexia Chronic metabolic acidosis Focal dystonia Cerebellar hemorrhage Facial grimacing Hyperuricosuria Abnormal globus pallidus morphology Excessive purine production Hallucinations Bladder stones Podagra Methylmalonic acidemia Babinski sign Hyperhidrosis Dyspnea Elevated hepatic transaminase Lower limb muscle weakness Sensory neuropathy Hyperglycinemia Ketonuria Abnormal social behavior Tubulointerstitial nephritis Cerebellar vermis atrophy Progressive neurologic deterioration Abnormality of the kidney Acidosis Respiratory insufficiency Oral motor hypotonia Frequent temper tantrums Bradykinesia Type II diabetes mellitus Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Athetosis Brain atrophy Broad-based gait Paranoia Schizophrenia Incoordination Dilated fourth ventricle Rheumatoid arthritis Akinesia Chronic bronchitis Hypokinesia Head tremor Upper limb undergrowth Bronchitis Neurological speech impairment Gliosis Abnormal lactate dehydrogenase activity Leukopenia Macrocytic anemia Caudate atrophy Ischemic stroke Abnormal corpus striatum morphology Recurrent singultus Blood group antigen abnormality Abnormal facial expression Hyporeflexia of upper limbs Abnormality of the astrocytes Hypertension Ventriculomegaly Cerebellar atrophy Hyperactivity Stage 5 chronic kidney disease Spastic tetraparesis Paraparesis Cough Abnormality of eye movement Tetraparesis Pancytopenia Aciduria Postural instability Infertility Abnormal cerebellum morphology Metabolic acidosis Progressive cerebellar ataxia Opisthotonus Leukoencephalopathy Proximal placement of thumb Cardiomegaly Limb dysmetria Paroxysmal dyskinesia Paroxysmal dystonia Jerky head movements Focal aware seizure Upper limb dysmetria Hypoglycorrhachia Generalized tonic-clonic seizures without focal onset Skeletal muscle atrophy Pneumonia Muscular dystrophy Ichthyosis Aspiration Abnormality of the head EMG abnormality Abnormality of the musculature Aspiration pneumonia Abetalipoproteinemia Phonic tics Hypothyroidism Difficulty walking Poor speech Retinal degeneration Cirrhosis Type I diabetes mellitus Torticollis Migraine without aura Torsion dystonia Increased serum ferritin Frequent falls Growth delay Hemiplegia/hemiparesis Renal tubular dysfunction Microcephaly Nystagmus EEG abnormality Intellectual disability, moderate Generalized tonic-clonic seizures Dysmetria Migraine Focal-onset seizure Specific learning disability Lower limb spasticity Episodic ataxia Limb ataxia Progressive microcephaly Horizontal nystagmus Absence seizures Hemiplegia Focal impaired awareness seizure Impulsivity Atonic seizures Hyperactive deep tendon reflexes Reticulocytosis Hand tremor Action tremor Polyuria Blepharospasm Oral-pharyngeal dysphagia Scoliosis Dysgammaglobulinemia Increased IgM level Sclerosing cholangitis Cholangiocarcinoma Decreased T cell activation Impaired Ig class switch recombination Absence of lymph node germinal center Enlarged tonsils Agranulocytosis Opportunistic infection IgE deficiency Impaired memory B cell generation Pain IgM deficiency Flexion contracture Motor delay Clinodactyly Clinodactyly of the 5th finger Hip dislocation Hematuria Recurrent urinary tract infections Nephrolithiasis Stereotypy Spastic gait Finger clinodactyly Self-injurious behavior Chronic hepatitis Stomatitis Cogwheel rigidity Abnormality of the liver Scanning speech Refractory anemia Decreased serum ceruloplasmin Elevated hepatic iron concentration Decreased serum iron Aceruloplasminemia Feeding difficulties Abdominal pain Anorexia Diarrhea Recurrent infections Carcinoma Autoimmunity Cholangitis Decreased antibody level in blood Otitis media Recurrent otitis media Chronic diarrhea Recurrent bacterial infections Encephalitis IgA deficiency Hepatocellular carcinoma IgG deficiency Recurrent lower respiratory tract infections Gingivitis Agammaglobulinemia Metabolic ketoacidosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Macular degeneration, related diseases and genetic alterations Motor delay and Cerebral atrophy, related diseases and genetic alterations Hyperreflexia and Urinary incontinence, related diseases and genetic alterations Hyperreflexia and Dysphagia, related diseases and genetic alterations Delayed speech and language development and Ventricular septal defect, related diseases and genetic alterations

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