Hyperreflexia, and Thrombocytopenia

Diseases related with Hyperreflexia and Thrombocytopenia

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

Top matches:

Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: MESH OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 3; AGS3

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

NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Other less relevant matches:

Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14 Is also known as coxpd14

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ATAXIA-PANCYTOPENIA SYNDROME

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY

Low match COG4-CDG

COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij|cdg-iij|cdg syndrome type iij|cdg2j|congenital disorder of glycosylation type iij|congenital disorder of glycosylation type 2j|cdgiij|cdg iij

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG4-CDG

Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Top 5 symptoms//phenotypes associated to Hyperreflexia and Thrombocytopenia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cerebral atrophy Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Encephalopathy Ataxia Failure to thrive Splenomegaly Hypoplasia of the corpus callosum Acidosis Anemia Neutropenia Intellectual disability Growth delay Irritability Recurrent respiratory infections Elevated hepatic transaminase Leukopenia Hepatomegaly Hypertonia Spasticity Hepatosplenomegaly Muscular hypotonia of the trunk Diffuse cerebral atrophy Vomiting Muscular hypotonia Abnormality of the nervous system Lactic acidosis Cerebellar atrophy

Rare Symptoms - Less than 30% cases

Babinski sign Mitochondrial encephalopathy Athetosis Folate deficiency Limb hypertonia Gliosis Increased serum lactate Dysmetria Neurological speech impairment Aggressive behavior Myoclonus Feeding difficulties in infancy Hypsarrhythmia Respiratory tract infection Cirrhosis Hepatic failure Abnormality of the coagulation cascade Behavioral abnormality Diarrhea Recurrent infections Motor delay Sepsis Aminoaciduria Chronic diarrhea Recurrent upper respiratory tract infections Pancytopenia Decreased antibody level in blood Leukemia Generalized aminoaciduria Ragged-red muscle fibers Hypoglycemia Edema Aspiration Absent speech Abnormality of the cerebral white matter Delayed myelination Cerebral calcification Ophthalmoplegia Apnea Rigidity Visual impairment Strabismus Delayed speech and language development Severe global developmental delay Fever Ventriculomegaly Tremor Optic atrophy Skeletal muscle atrophy Dystonia Ectopic calcification Abnormal facial shape Intermittent diarrhea Median cleft palate Giant platelets Lower limb hypertonia Short 5th metacarpal Thick hair Abnormality of chromosome segregation Sloping forehead Short 4th metacarpal Hypercholesterolemia Depletion of mitochondrial DNA in liver Shock Failure to thrive in infancy Elevated alkaline phosphatase Kyphosis Decreased activity of mitochondrial respiratory chain Abnormal conjugate eye movement Hypoalbuminemia Myopathy Jaundice Abnormality of the liver Hepatic steatosis Polyneuropathy Metabolic acidosis Ascites Cholestasis Hyperbilirubinemia External ophthalmoplegia Portal hypertension Hepatocellular necrosis Hyponatremia Hyposegmentation of neutrophil nuclei Progressive external ophthalmoplegia Mitochondrial myopathy Severe failure to thrive Hypothermia Severe lactic acidosis Episodic vomiting Recurrent infection of the gastrointestinal tract Micronodular cirrhosis Periportal fibrosis Generalized neonatal hypotonia Fatal liver failure in infancy Frontotemporal cerebral atrophy Skeletal dysplasia Eczema Macrocytic anemia Drowsiness Proximal amyotrophy Megaloblastic anemia Pill-rolling tremor Generalized tonic-clonic seizures Umbilical hernia Normocytic anemia Oral ulcer Polydactyly Abnormality of the immune system Glossitis Folate-responsive megaloblastic anemia Hypertelorism Prominent forehead Depressed nasal bridge Macrocephaly Frontal bossing Ventricular septal defect Abnormality of the dentition Pes cavus Basal ganglia calcification Recurrent otitis media Neonatal sepsis Gastroesophageal reflux Complex febrile seizures Type II transferrin isoform profile Abnormal protein O-linked glycosylation Upper limb undergrowth Abnormal protein N-linked glycosylation Peripheral neuropathy Acute lymphoblastic leukemia Lower limb hyperreflexia Immunodeficiency Pneumonia Pallor Eosinophilia Mild short stature Nausea and vomiting Malabsorption Abnormality of movement Dyskinesia Focal-onset seizure Recurrent urinary tract infections Foot dorsiflexor weakness Anorexia Increased body weight Gingival overgrowth Cheilitis Hydrocephalus Recurrent singultus Generalized myoclonic seizures Brisk reflexes Generalized amyotrophy Epileptic spasms Multifocal seizures Hearing impairment Wide nasal bridge Cerebral cortical atrophy EEG abnormality Spastic paraplegia Paraplegia Epileptic encephalopathy Exotropia Neuronal loss in central nervous system Status epilepticus Atrophy/Degeneration affecting the brainstem Abnormality of the mitochondrion Type 2 muscle fiber atrophy Epilepsia partialis continua Scoliosis Dysarthria Gait disturbance Gait ataxia Unsteady gait Leukoencephalopathy Amblyopia Postural instability Developmental regression Pruritus Progressive microcephaly Leukodystrophy Muscle stiffness Poor head control Hemiplegia Lymphocytosis CSF lymphocytic pleiocytosis Dysphagia Respiratory distress Respiratory failure Esotropia Spastic tetraplegia Progressive neurologic deterioration Oculomotor apraxia Protuberant abdomen Trismus Bulbar signs Recurrent aspiration pneumonia Muscle weakness Intrauterine growth retardation Cardiomyopathy Rod-cone dystrophy Tetraplegia Distal sensory impairment Progressive cerebellar ataxia Episodic ketoacidosis Poor suck Neonatal hypotonia Intellectual disability, moderate Autistic behavior Attention deficit hyperactivity disorder Lethargy Coma Chorea Aciduria Intellectual disability, profound Choreoathetosis Limb ataxia Impulsivity Hyperactivity Spastic diplegia Infantile spasms Weak cry Restlessness Ketoacidosis Hyperglycinemia Vertical supranuclear gaze palsy Hyperglycinuria Posterior fossa cyst Delirium Nonketotic hyperglycinemia Autism Agenesis of corpus callosum Telangiectasia Acute leukemia Clonus Bone marrow hypocellularity Incoordination Decreased nerve conduction velocity Myelodysplasia Aplasia/Hypoplasia of the cerebellum Ankle clonus Myeloid leukemia Acute myeloid leukemia Impaired vibration sensation in the lower limbs Hyperactive deep tendon reflexes Gait imbalance Hyporeflexia Abnormality of neutrophils Vertical nystagmus Abnormal platelet function Increased sensitivity to ionizing radiation Hypoplastic anemia Acute myelomonocytic leukemia Abnormal macrophage morphology Hypertension Intellectual disability, severe Intellectual disability, mild Visual loss Short 3rd metacarpal


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