Anemia, and Hyperreflexia

Diseases related with Anemia and Hyperreflexia

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


Top matches:

Low match X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA


X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA Is also known as x-linked sideroblastic anemia with ataxia|xlsa-a|pagon-bird-detter syndrome

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA

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 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

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Other less relevant matches:

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 ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

Low match GAUCHER DISEASE, TYPE II


Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Low match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

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 Hyperreflexia

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

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Strabismus Microcephaly Dystonia Cerebral atrophy Generalized tonic-clonic seizures Muscle weakness Ophthalmoplegia Progressive neurologic deterioration Hemolytic anemia Paraplegia Spastic paraplegia Hypertonia Generalized hypotonia Developmental regression Clonus Dysarthria

Rare Symptoms - Less than 30% cases


Encephalopathy Babinski sign Failure to thrive Gait disturbance Hypoplasia of the corpus callosum Abnormality of movement Splenomegaly Hepatomegaly Dysphagia Autistic behavior Cognitive impairment Episodic ataxia Myoclonus Acidosis Irritability Respiratory failure Hypoglycorrhachia External ophthalmoplegia Abnormal facial shape Falls Horizontal nystagmus Hyperactive deep tendon reflexes Tremor Respiratory distress Rigidity Hepatosplenomegaly Apnea Frequent falls Dysmetria Lower limb spasticity Generalized myoclonic seizures Wide mouth Synophrys Hypermetropia Astigmatism Thin upper lip vermilion Neutropenia Abnormal cardiac septum morphology Downturned corners of mouth Recurrent aspiration pneumonia Autism Bulbar signs Feeding difficulties Thrombocytopenia Esotropia Aspiration Oculomotor apraxia Protuberant abdomen Trismus Hypsarrhythmia Behavioral abnormality Hypertelorism Cryptorchidism Delayed speech and language development Visual impairment Wide nasal bridge Myopia Downslanted palpebral fissures Epileptic encephalopathy Hyperbilirubinemia Status epilepticus Progressive visual loss Myopathy Cerebellar atrophy Visual loss Areflexia Pes cavus Hypogonadism Reduced visual acuity Abnormality of eye movement Muscle cramps Ragged-red muscle fibers Peripheral neuropathy Abnormal electroretinogram 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 Optic atrophy Ptosis Broad-based gait Macrotia Cerebral visual impairment Obsessive-compulsive behavior Delayed ability to walk Enlarged cisterna magna Short stature Cataract Brachydactyly Macrocephaly Hydrocephalus Absent speech Jaundice Sensorineural hearing impairment Inability to walk Delayed myelination Fetal distress Hyperkalemia Broad neck Conjugated hyperbilirubinemia Stomatocytosis Hemoglobinuria Zonular cataract Hearing impairment Prenatal movement abnormality Neurodegeneration Enterocolitis Intellectual disability, moderate Moderate global developmental delay Loss of ability to walk Limb tremor Intellectual disability, mild Gait ataxia EEG abnormality Aggressive behavior Mental deterioration Loss of speech Paresthesia Dyskinesia Chorea Migraine Focal-onset seizure Specific learning disability Generalized-onset seizure Choreoathetosis Generalized dystonia Progressive spastic paraplegia Limb ataxia Hypochromic microcytic anemia Muscular hypotonia Intrauterine growth retardation Abnormality of metabolism/homeostasis Neurological speech impairment Intention tremor Incoordination Dysdiadochokinesis Microcytic anemia Sideroblastic anemia Freckling Nonprogressive cerebellar ataxia Neoplasm Abnormality of the nervous system Skin rash Cerebral calcification Leukodystrophy Toe walking Ankle clonus Involuntary movements Progressive microcephaly Muscle fibrillation Brisk reflexes Increased serum lactate Optic disc pallor Tetraparesis Exotropia Spastic tetraparesis Leukoencephalopathy Failure to thrive in infancy Stridor Abnormality of the periventricular white matter Lactic acidosis Ventriculomegaly Respiratory insufficiency Vomiting Poor speech Metabolic acidosis Abdominal distention Brain atrophy Postnatal microcephaly Scoliosis Lethargy Absence seizures Torsion dystonia Slurred speech Hemiplegia Focal impaired awareness seizure Impulsivity Atonic seizures Reticulocytosis Hand tremor Action tremor Abnormality of the head Dyspnea Migraine without aura 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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