Anemia, and Dystonia

Diseases related with Anemia and Dystonia

In the following list you will find some of the most common rare diseases related to Anemia and Dystonia 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 BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC


Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC Is also known as labrune syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC

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Other less relevant matches:

Low match AICARDI-GOUTIERES SYNDROME 6; AGS6


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

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 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

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 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 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY


Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Is also known as dominant optic atrophy plus syndrome|doa+

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

Top 5 symptoms//phenotypes associated to Anemia and Dystonia

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Tremor Chorea Muscle weakness Cognitive impairment Abnormality of movement Hyperreflexia Gait disturbance Hepatomegaly Respiratory distress Choreoathetosis Optic atrophy Thrombocytopenia Lethargy Nystagmus

Rare Symptoms - Less than 30% cases


Ophthalmoplegia Developmental regression External ophthalmoplegia Spastic paraplegia Paraplegia Falls Hemolytic anemia Progressive neurologic deterioration Frequent falls Lower limb spasticity Neurodegeneration Gait ataxia Myoclonus Hypertonia Irritability Generalized-onset seizure Encephalopathy Cerebral atrophy Dyskinesia Involuntary movements Slurred speech Horizontal nystagmus Failure to thrive Rigidity Generalized hypotonia Episodic ataxia Splenomegaly Muscular hypotonia Pancreatitis Hyperammonemia Areflexia Neutropenia Depressivity Nausea and vomiting Mental deterioration Behavioral abnormality Myopathy Cardiomyopathy Renal insufficiency Peripheral neuropathy Coma Leukodystrophy Microcephaly Loss of speech Hemiplegia Cerebral calcification Abnormality of extrapyramidal motor function Leukoencephalopathy Type I diabetes mellitus Hypothyroidism Retinal degeneration Difficulty walking Cardiomegaly Parkinsonism Cirrhosis Poor speech Confusion Diabetes mellitus Memory impairment Rhabdomyolysis Atrial fibrillation Abetalipoproteinemia Abnormality of the musculature Obsessive-compulsive behavior Motor axonal neuropathy Acanthocytosis Tics Personality disorder Phonic tics Dementia EMG abnormality Delayed speech and language development Fatigue Torticollis Aspiration Congestive heart failure Aspiration pneumonia Anorexia Cerebral palsy Ragged-red muscle fibers Visual loss Pes cavus Hypogonadism Reduced visual acuity Autistic behavior Abnormality of eye movement Muscle cramps Progressive visual loss Abnormal electroretinogram Dysphagia Increased variability in muscle fiber diameter Progressive sensorineural hearing impairment Macrocytic anemia Central scotoma Progressive external ophthalmoplegia Abnormal auditory evoked potentials Red-green dyschromatopsia Tritanomaly Centrocecal scotoma Cerebellar atrophy Ptosis Hyperkinesis Elevated hepatic iron concentration Polyuria Muscle fibrillation Increased serum ferritin Blepharospasm Cogwheel rigidity Scanning speech Refractory anemia Decreased serum ceruloplasmin Decreased serum iron Sensorineural hearing impairment Aceruloplasminemia Feeding difficulties Immunodeficiency Abdominal pain Stroke Dehydration Dilated cardiomyopathy Hearing impairment Strabismus Ichthyosis Hypoglycorrhachia Muscular dystrophy EEG abnormality Progressive spastic paraplegia Generalized dystonia Moderate global developmental delay Loss of ability to walk Limb tremor Intellectual disability, mild Aggressive behavior Ankle clonus Intellectual disability, moderate Generalized tonic-clonic seizures Dysmetria Paresthesia Migraine Focal-onset seizure Specific learning disability Freckling Toe walking Progressive microcephaly Abnormality of the cerebral white matter Growth delay Sepsis Hemiplegia/hemiparesis Renal tubular dysfunction Neoplasm Osteopenia Abnormal pyramidal sign Inability to walk Clonus Gliosis Gastrointestinal hemorrhage Hemiparesis Abnormality of the vasculature Babinski sign Abnormality of the nervous system Skin rash Limb ataxia Absence seizures Anxiety Failure to thrive in infancy Lactic acidosis Increased serum lactate Optic disc pallor Tetraparesis Exotropia Spastic tetraparesis Stridor Dyspnea Brisk reflexes Abnormality of the periventricular white matter Skeletal muscle atrophy Arrhythmia Elevated serum creatine phosphokinase Pneumonia Hepatosplenomegaly Acidosis Respiratory failure Focal impaired awareness seizure Abnormality of the head Impulsivity Atonic seizures Hyperactive deep tendon reflexes Reticulocytosis Hand tremor Action tremor Torsion dystonia Migraine without aura Hypoplasia of the corpus callosum Limb dysmetria Paroxysmal dyskinesia Paroxysmal dystonia Jerky head movements Focal aware seizure Upper limb dysmetria Generalized tonic-clonic seizures without focal onset Abnormal amplitude of pattern reversal visual evoked potentials



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