Hyperreflexia, and Hemolytic anemia

Diseases related with Hyperreflexia and Hemolytic anemia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

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

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

Other less relevant matches:

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

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

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

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

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

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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Hemolytic anemia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Anemia Very Common - Between 80% and 100% cases
Spasticity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cerebral atrophy Intellectual disability Microcephaly Respiratory failure Developmental regression Generalized hypotonia Dystonia Ataxia Respiratory distress Dysarthria Myoclonus Hepatomegaly Splenomegaly Muscle weakness Clonus Hypertonia Progressive neurologic deterioration Apnea Hypoplasia of the corpus callosum Babinski sign Tremor

Rare Symptoms - Less than 30% cases

Strabismus Macrocephaly Hyperactive deep tendon reflexes Acidosis Ophthalmoplegia Involuntary movements Failure to thrive Delayed myelination Absent speech Jaundice Hepatosplenomegaly Dyskinesia Hemoglobinuria Muscular hypotonia Gait disturbance Postnatal microcephaly Neuronal loss in central nervous system Optic disc pallor Intention tremor Abnormal facial shape Encephalopathy Generalized-onset seizure Hypoglycorrhachia Dysmetria Generalized tonic-clonic seizures Lower limb spasticity Frequent falls Falls Spastic paraplegia Irritability Paraplegia Rigidity Abnormality of movement Retrognathia Cerebral visual impairment Small nail Inflammatory abnormality of the skin Narrow mouth Large fontanelles Protuberant abdomen Micropenis Tall stature Gingival overgrowth Widely spaced teeth Multicystic kidney dysplasia Limb undergrowth Oculomotor apraxia Deep philtrum Elevated alkaline phosphatase Redundant skin Scaling skin Overfolded helix Large for gestational age Prominent occiput Infantile spasms Hypsarrhythmia Microdontia Overgrowth Cirrhosis Neonatal hypotonia Muscular hypotonia of the trunk Bulbar signs Abnormality of the eye Trismus Wide mouth Stroke Abnormality of eye movement Ichthyosis Polyhydramnios Hepatic failure Coarse facial features Short distal phalanx of finger Wide nose Downturned corners of mouth Generalized myoclonic seizures Sepsis Gliosis Aspiration Vesicoureteral reflux Webbed neck Epileptic encephalopathy Abnormality of the periventricular white matter Central hypotonia Absent septum pellucidum Ventriculomegaly Neurological speech impairment Incoordination Dysdiadochokinesis Microcytic anemia Hypochromic microcytic anemia Sideroblastic anemia Nonprogressive cerebellar ataxia Neoplasm Vomiting Dyspnea Respiratory insufficiency Lethargy Intrauterine growth retardation Lactic acidosis Neurodegeneration Increased serum lactate Tetraparesis Exotropia Spastic tetraparesis External ophthalmoplegia Leukoencephalopathy Failure to thrive in infancy Stridor Brisk reflexes Abnormality of metabolism/homeostasis Poor speech Esotropia Micronodular cirrhosis Epileptic spasms Pierre-Robin sequence Thrombocytopenia Cardiorespiratory arrest Dysphagia High anterior hairline Developmental stagnation Breech presentation Seborrheic dermatitis Duplicated collecting system Feeding difficulties Prenatal movement abnormality Upslanted palpebral fissure Fetal distress Triangular mouth Enterocolitis Muscle fibrillation Brain atrophy Alveolar ridge overgrowth Abdominal distention Olfactory lobe agenesis Metabolic acidosis Birth length greater than 97th percentile Abnormality of the pons Scoliosis Cerebral cortical atrophy Nonspherocytic hemolytic anemia Posteriorly rotated ears Abnormality of the head Absence seizures Slurred speech Hemiplegia Focal impaired awareness seizure Impulsivity Atonic seizures Reticulocytosis Hand tremor Action tremor Episodic ataxia Torsion dystonia Migraine without aura Progressive microcephaly Limb dysmetria Paroxysmal dyskinesia Paroxysmal dystonia Jerky head movements Focal aware seizure Upper limb dysmetria Generalized tonic-clonic seizures without focal onset Short stature Cataract Brachydactyly Hydrocephalus Horizontal nystagmus Limb ataxia Inability to walk Loss of ability to walk Abnormality of the nervous system Skin rash Cerebral calcification Leukodystrophy Toe walking Ankle clonus Freckling Progressive spastic paraplegia Loss of speech Generalized dystonia Moderate global developmental delay Limb tremor Choreoathetosis Cognitive impairment Intellectual disability, mild Gait ataxia EEG abnormality Aggressive behavior Intellectual disability, moderate Mental deterioration Paresthesia Chorea Migraine Focal-onset seizure Specific learning disability Macrotia Hyperbilirubinemia Cerebellar hypoplasia Cleft palate Diaphragmatic paralysis Normocytic anemia Cholecystitis Normochromic anemia Abnormal posturing Chronic hemolytic anemia Congenital hemolytic anemia Central nervous system degeneration Hearing impairment Hypertelorism Micrognathia Flexion contracture Macrocytic anemia High palate Depressed nasal bridge Anteverted nares Short neck Atrial septal defect Cerebellar atrophy Short nose Long philtrum Malar flattening Obesity Patent ductus arteriosus Pneumonia Abnormality of immune system physiology Cholelithiasis Hyperkalemia Kyphosis Broad neck Conjugated hyperbilirubinemia Stomatocytosis Zonular cataract Motor delay Peripheral neuropathy Skeletal muscle atrophy Fatigue Cardiomyopathy Myopathy Congestive heart failure Recurrent infections Decreased nerve conduction velocity Areflexia Hyporeflexia Recurrent respiratory infections Hypertrophic cardiomyopathy Respiratory tract infection Pallor Abnormal pyramidal sign Limb muscle weakness Unsteady gait Oligohydramnios Progressive muscle weakness Respiratory insufficiency due to muscle weakness Recurrent aspiration pneumonia


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