Seizures, and Cerebral calcification

Diseases related with Seizures and Cerebral calcification

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


Top matches:

Low match MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE ISG15 DEFICIENCY


Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE ISG15 DEFICIENCY Is also known as msmd due to complete isg15 deficiency|immunodeficiency 38, mycobacteriosis, autosomal recessive|isg15 deficiency, autosomal recessive

Related symptoms:

  • Seizures
  • Immunodeficiency
  • Lymphadenopathy
  • Cerebral calcification
  • Basal ganglia calcification


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE ISG15 DEFICIENCY

Low match BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6


Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by Legati et al., 2015).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Dysarthria
  • Gait disturbance
  • Behavioral abnormality


SOURCES: OMIM MENDELIAN

More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6

Low match ABETA AMYLOIDOSIS, DUTCH TYPE


Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.

ABETA AMYLOIDOSIS, DUTCH TYPE Is also known as hchwad|amyloidosis, hereditary, with cerebral hemorrhage, dutch variant|hereditary cerebral hemorrhage with amyloidosis, dutch type|cerebral amyloid angiopathy, app-related, iowa variant|cerebral amyloid angiopathy, app-related, italian variant|hchwa, dut

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertension
  • Behavioral abnormality
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETA AMYLOIDOSIS, DUTCH TYPE

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Other less relevant matches:

Low match EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME


Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

Low match ATYPICAL TERATOID RHABDOID TUMOR


Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.

ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL TERATOID RHABDOID TUMOR

Low match CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY


Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY Is also known as clwm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY

Low match DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA


DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA Is also known as hrs|ataxia, chorea, seizures, and dementia|haw river syndrome|nod|naito-oyanagi disease|myoclonic epilepsy with choreoathetosis

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA

Low match MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS; MISSBC


MISSBC is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, early-onset seizures, and severely delayed or even absent psychomotor development with profound intellectual disability and spasticity or dystonia. Brain imaging shows midbrain dysplasia and intracerebral calcifications (summary by Aran et al., 2016).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS; MISSBC

Low match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C


HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C Is also known as dihydropteridine reductase deficiency|dhpr deficiency|quinoid dihydropteridine reductase deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency|qdpr deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

Low match HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2


Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2

Top 5 symptoms//phenotypes associated to Seizures and Cerebral calcification

Symptoms // Phenotype % cases
Basal ganglia calcification Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Choreoathetosis Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Seizures and Cerebral calcification. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Dystonia Dysarthria Microcephaly Ataxia Encephalopathy

Rare Symptoms - Less than 30% cases


Delayed speech and language development Hypertonia Macrocephaly Dysphagia Irritability Leukoencephalopathy Progressive neurologic deterioration Tremor Abnormality of the cerebral white matter Abnormality of extrapyramidal motor function Mental deterioration Hearing impairment Parkinsonism Myoclonus Severe global developmental delay Behavioral abnormality Neurological speech impairment Chorea Generalized myoclonic seizures Spasticity Nystagmus Slurred speech Poor speech Generalized hypotonia Muscular hypotonia of the trunk Spastic tetraplegia Tetraplegia Generalized tonic-clonic seizures Cerebral atrophy Dilatation Personality changes Atrophy of the dentate nucleus Visual impairment Peripheral demyelination Abnormal pyramidal sign Involuntary movements Hypoplasia of the corpus callosum Fetal cystic hygroma Neuronal loss in central nervous system Hyperreflexia Delayed myelination Severe vision loss Intellectual disability, profound Diabetes mellitus Tetany Chronic fatigue Chronic mucocutaneous candidiasis Hyperphosphatemia Hypoparathyroidism Type I diabetes mellitus Hypocalcemia Generalized-onset seizure Febrile seizures Muscle cramps Paresthesia Postnatal growth retardation Hypoglycemia Fatigue Hypsarrhythmia Growth delay Short stature Hyperphenylalaninemia Folate deficiency Excessive salivation Progressive encephalopathy Episodic fever Muscular hypotonia Congenital microcephaly Nonprogressive encephalopathy Brisk reflexes Aspiration Progressive microcephaly Postnatal microcephaly Cerebellar atrophy Hemiplegia/hemiparesis Doll-like facies Stroke Recurrent cerebral hemorrhage Cerebellar hemorrhage Cerebral amyloid angiopathy Cerebral ischemia Senile plaques Transient ischemic attack Neurofibrillary tangles Amyloidosis Alzheimer disease Cerebral hemorrhage Intracranial hemorrhage Headache Strabismus Hypertension Palilalia Visual hallucinations Hallucinations Psychosis Memory impairment Depressivity Gait disturbance Recurrent mycobacterial infections Lymphadenitis Lymphadenopathy Tortuous cerebral arteries Frontal bossing Focal white matter lesions Cranial nerve paralysis Abnormal CNS myelination Abnormal myelination Athetosis Ventriculomegaly Motor delay Sensorineural hearing impairment Malignant neoplasm of the central nervous system Reduced consciousness/confusion Immunodeficiency Apathy Cerebral palsy Migraine Rigidity Limitation of joint mobility Nausea and vomiting Hydrocephalus Muscle weakness Cogwheel rigidity Shuffling gait Lewy bodies Megalencephaly Resting tremor Bradykinesia Dyskinesia Abnormality of movement Laryngospasm



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