Cortical dysplasia, complex, with other brain malformations 12

disease

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Summary

Cortical dysplasia, complex, with other brain malformations 12 (MONDO:0957217) is a disease caused by CAMSAP1 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: CAMSAP1 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cortical dysplasia, complex, with other brain malformations 12
Mondo ID	MONDO:0957217
OMIM	620316
DOID	DOID:0061141
UMLS	C5830407
MedGen	1841043
Is cancer (heuristic)	no

Data availability: 6 ClinVar variants · 2 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 › complex cortical dysplasia with other brain malformations › cortical dysplasia, complex, with other brain malformations 12

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

6 retrieved; paginated sample, class counts are floors:

4 likely pathogenic, 1 conflicting classifications of pathogenicity, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1706470	NM_015447.4(CAMSAP1):c.2717_2738del (p.Gln906fs)	CAMSAP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1706468	NM_015447.4(CAMSAP1):c.1831A>T (p.Lys611Ter)	CAMSAP1	Likely pathogenic	criteria provided, single submitter
4845349	NM_015447.4(CAMSAP1):c.3919C>T (p.Gln1307Ter)	CAMSAP1	Likely pathogenic	criteria provided, single submitter
972931	NM_015447.4(CAMSAP1):c.1707dup (p.Thr570fs)	CAMSAP1	Likely pathogenic	criteria provided, single submitter
972932	NM_015447.4(CAMSAP1):c.3130C>T (p.Gln1044Ter)	CAMSAP1	Likely pathogenic	criteria provided, single submitter
1706469	NM_015447.4(CAMSAP1):c.2638C>T (p.Gln880Ter)	CAMSAP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · Orphanet: 0 · 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
CAMSAP1	Strong	Autosomal recessive	cortical dysplasia, complex, with other brain malformations 12	2

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
CAMSAP1	HGNC:19946	ENSG00000130559	Q5T5Y3	Calmodulin-regulated spectrin-associated protein 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CAMSAP1	Calmodulin-regulated spectrin-associated protein 1	Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization.

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)
CAMSAP1	Other/Unknown	no		CH_dom, PRC_barrel-like_sf, CKK_CAMSAP

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
buccal mucosa cell	1
endothelial cell	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CAMSAP1	290	ubiquitous	marker	secondary oocyte, buccal mucosa cell, endothelial cell

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CAMSAP1	1,162

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CAMSAP1	Q5T5Y3	4

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
regulation of microtubule polymerization	1	1123.5×	0.004	CAMSAP1
regulation of cell morphogenesis	1	624.1×	0.004	CAMSAP1
cytoskeleton organization	1	132.7×	0.008	CAMSAP1
neuron projection development	1	122.1×	0.008	CAMSAP1
microtubule cytoskeleton organization	1	121.2×	0.008	CAMSAP1

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
CAMSAP1	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	CAMSAP1

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)
CAMSAP1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: CAMSAP1