IBGC8
MCID: BSL049
MIFTS: 23

Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive (IBGC8)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive:

Name: Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive 56 73 6
Ibgc8 56 73

Characteristics:

OMIM:

56
Miscellaneous:
insidious onset
variable severity
slowly progressive
onset of symptoms usually in adulthood

Inheritance:
autosomal recessive


HPO:

31
basal ganglia calcification, idiopathic, 8, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

OMIM : 56 Autosomal recessive idiopathic basal ganglia calcification-8 (IBGC8) is a progressive neurologic disorder with insidious onset of motor symptoms in adulthood. Affected individuals develop gait difficulties, parkinsonism, pyramidal signs, and dysarthria. Some may demonstrate cognitive decline or memory impairment. Brain imaging shows extensive calcifications in various brain regions including the basal ganglia, thalamus, and cerebellum. Because serum calcium and phosphate are normal, the disorder is thought to result from defects in the integrity of the neurovascular unit in the brain (summary by Schottlaender et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). (618824)

MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive, is also known as ibgc8. An important gene associated with Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive is JAM2 (Junctional Adhesion Molecule 2). Affiliated tissues include brain, cerebellum and thalamus, and related phenotypes are hypertonia and nystagmus

UniProtKB/Swiss-Prot : 73 Basal ganglia calcification, idiopathic, 8, autosomal recessive: A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

Related Diseases for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertonia 31 very rare (1%) HP:0001276
2 nystagmus 31 very rare (1%) HP:0000639
3 dysarthria 31 very rare (1%) HP:0001260
4 mental deterioration 31 very rare (1%) HP:0001268
5 babinski sign 31 very rare (1%) HP:0003487
6 generalized dystonia 31 very rare (1%) HP:0007325
7 rigidity 31 very rare (1%) HP:0002063
8 autistic behavior 31 very rare (1%) HP:0000729
9 limb dystonia 31 very rare (1%) HP:0002451
10 brisk reflexes 31 very rare (1%) HP:0001348
11 limb ataxia 31 very rare (1%) HP:0002070
12 parkinsonism 31 very rare (1%) HP:0001300
13 orofacial dyskinesia 31 very rare (1%) HP:0002310
14 bradykinesia 31 very rare (1%) HP:0002067
15 hypomimic face 31 very rare (1%) HP:0000338
16 cerebellar calcifications 31 very rare (1%) HP:0007352
17 basal ganglia calcification 31 very rare (1%) HP:0002135
18 seizure 31 very rare (1%) HP:0001250
19 thalamic calcification 31 very rare (1%) HP:0025041

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hypertonia
ataxia
slurred speech
hyperreflexia
dysarthria
more
Head And Neck Mouth:
orofacial dyskinesia
poor tongue control

Laboratory Abnormalities:
normal serum calcium
normal serum phosphate
normal serum parathyroid hormone

Abdomen Gastrointestinal:
dysphagia
tube-feeding (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
depression

Head And Neck Eyes:
ophthalmoplegia (in some patients)
saccadic intrusions
slow jerky pursuit

Clinical features from OMIM:

618824

Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

Genetic Tests for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive:

40
Brain, Cerebellum, Thalamus, Tongue

Publications for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

Articles related to Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive:

# Title Authors PMID Year
1
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. 56 6
32142645 2020
2
Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification. 6 56
31851307 2020
3
Fahr's disease in two siblings in a family: A case report. 6 56
26136916 2015

Variations for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 JAM2 NM_021219.4(JAM2):c.143del (p.Ile47_Leu48insTer)deletion Pathogenic 829531 21:27062184-27062184 21:25689872-25689872
2 JAM2 NM_021219.4(JAM2):c.1A>G (p.Met1Val)SNV Pathogenic 829533 21:27012134-27012134 21:25639822-25639822
3 JAM2 NM_021219.4(JAM2):c.504G>C (p.Trp168Cys)SNV Pathogenic 829535 21:27071098-27071098 21:25698786-25698786
4 JAM2 NM_021219.4:(67+1_68-1)_(394+1_395-1)deldeletion Pathogenic 829537
5 JAM2 NM_021219.4(JAM2):c.323G>A (p.Arg108His)SNV Pathogenic 829539 21:27066149-27066149 21:25693837-25693837
6 JAM2 NM_021219.4(JAM2):c.685C>T (p.Arg229Ter)SNV Pathogenic 829541 21:27074569-27074569 21:25702257-25702257
7 JAM2 NM_021219.4(JAM2):c.395-1dupduplication Pathogenic 829543 21:27070987-27070988 21:25698675-25698676
8 JAM2 NM_021219.4(JAM2):c.177_180del (p.Ser59_Arg60insTer)deletion Pathogenic 829545 21:27062221-27062224 21:25689909-25689912

Expression for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

Search GEO for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive.

Pathways for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

GO Terms for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

Sources for Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

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