Basal ganglia calcification, idiopathic, 7, autosomal recessive

Summary

Basal ganglia calcification, idiopathic, 7, autosomal recessive (MONDO:0032673) is a disease caused by MYORG (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: MYORG (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 48

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	basal ganglia calcification, idiopathic, 7, autosomal recessive
Mondo ID	MONDO:0032673
OMIM	618317
UMLS	C5193025
MedGen	1683911
GARD	0025719
Is cancer (heuristic)	no

Also known as: IBGC7

Data availability: 48 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › basal ganglia disorder › bilateral striopallidodentate calcinosis › basal ganglia calcification, idiopathic, 7, autosomal recessive

Related subtypes (9): basal ganglia calcification, idiopathic, childhood-onset, basal ganglia calcification, idiopathic, 4, basal ganglia calcification, idiopathic, 5, basal ganglia calcification, idiopathic, 6, basal ganglia calcification, idiopathic, 1, basal ganglia calcification, idiopathic, 8, autosomal recessive, basal ganglia calcification, idiopathic, 9, autosomal recessive, basal ganglia calcification, idiopathic, 10, autosomal recessive, basal ganglia calcification, idiopathic, 11, autosomal recessive

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

48 retrieved; paginated sample, class counts are floors:

20 uncertain significance, 16 likely pathogenic, 5 pathogenic, 4 conflicting classifications of pathogenicity, 2 benign, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
4535953	NM_020702.5(MYORG):c.346dup (p.Arg116fs)	MYORG	Pathogenic	criteria provided, single submitter
4813692	NM_020702.5(MYORG):c.1394dup (p.Glu466fs)	MYORG	Pathogenic	criteria provided, single submitter
617689	NM_020702.5(MYORG):c.225G>A (p.Trp75Ter)	MYORG	Pathogenic	criteria provided, single submitter
617695	NM_020702.5(MYORG):c.1233del (p.Phe411fs)	MYORG	Pathogenic	no assertion criteria provided
617697	I655T	MYORG	Pathogenic	no assertion criteria provided
692182	NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup)	MYORG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1013327	NM_020702.5(MYORG):c.494_509dup (p.Ala171fs)	MYORG	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1804977	NM_020702.5(MYORG):c.1788C>G (p.Tyr596Ter)	MYORG	Likely pathogenic	criteria provided, single submitter
1806199	NM_020702.5(MYORG):c.1873G>T (p.Glu625Ter)	MYORG	Likely pathogenic	criteria provided, single submitter
2573020	NM_020702.5(MYORG):c.701_702del (p.Ala234fs)	MYORG	Likely pathogenic	criteria provided, single submitter
3597252	NM_020702.5(MYORG):c.1832G>T (p.Arg611Leu)	MYORG	Likely pathogenic	criteria provided, single submitter
3780002	NM_020702.5(MYORG):c.1889del (p.Gly630fs)	MYORG	Likely pathogenic	criteria provided, single submitter
4081525	NM_020702.5(MYORG):c.1523del (p.Gln508fs)	MYORG	Likely pathogenic	criteria provided, single submitter
4081526	NM_020702.5(MYORG):c.1270_1277dup (p.Trp426fs)	MYORG	Likely pathogenic	criteria provided, multiple submitters, no conflicts
4081527	NM_020702.5(MYORG):c.234C>A (p.Tyr78Ter)	MYORG	Likely pathogenic	criteria provided, single submitter
4533286	NM_020702.5(MYORG):c.1270_1277del (p.Arg424fs)	MYORG	Likely pathogenic	criteria provided, single submitter
617690	NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly)	MYORG	Likely pathogenic	criteria provided, single submitter
617692	NM_020702.5(MYORG):c.607C>T (p.Gln203Ter)	MYORG	Likely pathogenic	criteria provided, single submitter
617694	NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter)	MYORG	Likely pathogenic	criteria provided, single submitter
692168	NM_020702.5(MYORG):c.1328G>A (p.Trp443Ter)	MYORG	Likely pathogenic	criteria provided, single submitter
692171	NM_020702.5(MYORG):c.1431C>A (p.Tyr477Ter)	MYORG	Likely pathogenic	criteria provided, single submitter
692186	NM_020702.5(MYORG):c.103A>G (p.Met35Val)	MYORG	Likely pathogenic	criteria provided, single submitter
1003361	NM_020702.5(MYORG):c.1634G>A (p.Gly545Asp)	MYORG	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2049918	NM_020702.5(MYORG):c.1047C>A (p.His349Gln)	MYORG	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
692177	NM_020702.5(MYORG):c.1967T>C (p.Ile656Thr)	MYORG	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
692185	NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1])	MYORG	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1039107	NM_020702.5(MYORG):c.1607C>T (p.Pro536Leu)	MYORG	Uncertain significance	criteria provided, multiple submitters, no conflicts
1681282	NM_020702.5(MYORG):c.1991C>T (p.Pro664Leu)	MYORG	Uncertain significance	criteria provided, multiple submitters, no conflicts
1681295	NM_020702.5(MYORG):c.1469A>G (p.Tyr490Cys)	MYORG	Uncertain significance	criteria provided, multiple submitters, no conflicts
1806200	NM_020702.5(MYORG):c.841T>C (p.Tyr281His)	MYORG	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
MYORG	Definitive	Autosomal recessive	basal ganglia calcification, idiopathic, 7, autosomal recessive	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MYORG	Orphanet:1980	Bilateral striopallidodentate calcinosis

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MYORG	HGNC:19918	ENSG00000164976	Q6NSJ0	Alpha-galactosidase MYORG	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MYORG	Alpha-galactosidase MYORG	Alpha-galactosidase with unusual specificity for the Gal-alpha1,4-Glc structure, whose in vivo substrate is still unknown.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MYORG	Other/Unknown	no		Glyco_hydro_31_TIM, Glyco_hydro_b, GH_hydrolase_sf

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
gastrocnemius	1
hindlimb stylopod muscle	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MYORG	185	ubiquitous	marker	ventricular zone, gastrocnemius, hindlimb stylopod muscle

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MYORG	1,675

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MYORG	Q6NSJ0	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of insulin-like growth factor receptor signaling pathway	1	1203.7×	0.003	MYORG
skeletal muscle fiber development	1	543.6×	0.004	MYORG
carbohydrate metabolic process	1	135.9×	0.010	MYORG
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1	78.4×	0.013	MYORG

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MYORG	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	MYORG

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
MYORG	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.