Microcephaly, and Gliosis

Diseases related with Microcephaly and Gliosis

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


Top matches:

Medium match X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME


X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.

X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME Is also known as mental retardation, x-linked 35|mrx35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME

Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 4


Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.

PONTOCEREBELLAR HYPOPLASIA TYPE 4 Is also known as fatal infantile encephalopathy with olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia|pch4

Related symptoms:

  • Seizures
  • Microcephaly
  • Spasticity
  • Flexion contracture
  • Cerebellar atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 4

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Other less relevant matches:

Medium match MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY


Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Medium match MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY


Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Is also known as mmpei|malignant migrating partial epilepsy of infancy|mmpsi|migrating partial epilepsy of infancy|mpsi|mpei|migrating partial seizures of infancy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY

Medium match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

Medium match PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A


Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ). Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2PCH2B (OMIM ) is caused by mutation in the TSEN2 gene (OMIM ) on chromosome 3p25, and PCH2C (OMIM ) is caused by mutation in the TSEN34 gene (OMIM ) on chromosome 19q13. PCH2D (OMIM ) is caused by mutation in the SEPSECS gene (OMIM ) on chromosome 4p15. PCH2E (OMIM ) is caused by mutation in the VPS53 gene (OMIM ) on chromosome 17p13. PCH2F (OMIM ) is caused by mutation in the TSEN15 gene (OMIM ) on chromosome 1q25. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing.

PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A Is also known as pch2|volendam neurodegenerative disease|pontocerebellar hypoplasia with progressive cerebral atrophy

Related symptoms:

  • Seizures
  • Microcephaly
  • Failure to thrive
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A

Medium match AMYOTROPHIC LATERAL SCLEROSIS


Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als|amyotrophic lateral sclerosis 1, autosomal dominant|fals|lou gehrig disease|charcot disease|amyotrophic lateral sclerosis 1, familial

Related symptoms:

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24


Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24 Is also known as coxpd24

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32


Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

Top 5 symptoms//phenotypes associated to Microcephaly and Gliosis

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Neuronal loss in central nervous system Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Microcephaly and Gliosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Myoclonus Feeding difficulties Acidosis Hyperreflexia Cerebral cortical atrophy Severe global developmental delay Progressive microcephaly Cerebral atrophy Encephalopathy Hypertonia Intellectual disability Cerebellar atrophy Cataract Cerebellar hypoplasia Increased serum lactate Optic atrophy

Rare Symptoms - Less than 30% cases


Irritability Opisthotonus Brain atrophy Muscle weakness Delayed myelination Nystagmus Skeletal muscle atrophy Micrognathia Absent speech Dystonia Muscle fibrillation Developmental regression Tetraplegia Neurodegeneration Failure to thrive Clonus Muscular hypotonia of the trunk Ptosis Hypoplasia of the pons Respiratory failure Cardiomyopathy Polyhydramnios Tremor Depressivity Lactic acidosis Hypertrophic cardiomyopathy Ventriculomegaly Tetraparesis Gastroesophageal reflux Generalized muscle weakness Constipation Parkinsonism Visual loss Kyphoscoliosis Peripheral demyelination Fasciculations Sleep apnea Slurred speech Emotional lability Strabismus Muscle cramps Skeletal dysplasia Nausea and vomiting Paralysis Anxiety Coarse facial features Dyspnea Dementia Areflexia Lethargy Dysphagia Fatigue Inability to walk Pain Choreoathetosis Cerebellar hemisphere hypoplasia Exotropia Metabolic alkalosis Xerostomia Amyotrophic lateral sclerosis Intellectual disability, mild Muscular hypotonia Extrapyramidal dyskinesia Dysarthria Intellectual disability, severe Blindness Myopathy Spastic tetraparesis Fatigable weakness of bulbar muscles Cerebral visual impairment Elevated serum creatine phosphokinase Agenesis of corpus callosum Proximal muscle weakness Facial palsy Metabolic acidosis Fatigable weakness of swallowing muscles Fatigable weakness of respiratory muscles Agitation Degeneration of the lateral corticospinal tracts Bulbar palsy Generalized-onset seizure Frontotemporal dementia Abnormal lower motor neuron morphology Degeneration of anterior horn cells Mildly elevated creatine phosphokinase Focal segmental glomerulosclerosis Laryngospasm Pseudobulbar paralysis Glomerulosclerosis Functional respiratory abnormality CNS hypomyelination Ragged-red muscle fibers Motor neuron atrophy Hypoplasia of the ventral pons Anteverted nares Impaired smooth pursuit Intrauterine growth retardation Central hypotonia Reduced ejection fraction Primitive reflex Biventricular hypertrophy Abnormal posturing Persistent lactic acidosis Prominent nasal bridge Decreased fetal movement Small for gestational age Arthrogryposis multiplex congenita Abnormal cerebellum morphology Sloping forehead Choanal atresia Cortical gyral simplification Hypoventilation Hepatic steatosis Small cerebral cortex Truncal obesity Short stature Abnormal facial shape Delayed speech and language development Gait disturbance Behavioral abnormality Obesity Microphallus Respiratory distress Cervical cord compression Increased body mass index Abnormality of metabolism/homeostasis Congenital contracture Hypoplasia of the brainstem Infantile encephalopathy Loss of Purkinje cells in the cerebellar vermis Profound global developmental delay Abnormality of the cerebrum Abnormality of the periventricular white matter Hyperalaninemia Deeply set eye Wide mouth Dilated cardiomyopathy Facial asymmetry Bulbous nose Left ventricular noncompaction Visual impairment Depressed nasal bridge Feeding difficulties in infancy Abnormality of the cerebral white matter Dyskinesia Chorea Cerebellar vermis hypoplasia Poor suck Restlessness Midface retrusion Focal motor seizures Abnormality of the cerebral cortex Epileptic encephalopathy Abnormal neuron morphology Hypoplasia of the corpus callosum Pneumonia Apnea Generalized myoclonic seizures Focal-onset seizure Cyanosis Multifocal seizures Hypsarrhythmia Status epilepticus Involuntary movements Poor eye contact Epileptic spasms Flushing Developmental stagnation Increased CSF lactate



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