Anemia, congenital dyserythropoietic, type 1a

Summary

Anemia, congenital dyserythropoietic, type 1a (MONDO:0009135) is a disease caused by CDAN1 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: CDAN1 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 267

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	anemia, congenital dyserythropoietic, type 1a
Mondo ID	MONDO:0009135
OMIM	224120
DOID	DOID:0111398
UMLS	C5574667
MedGen	1807106
GARD	0024649
Is cancer (heuristic)	no

Also known as: anemia, congenital dyserythropoietic, type 1a · anemia, congenital dyserythropoietic, type Ia · CDAN1A

Data availability: 267 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia › congenital anemia › congenital dyserythropoietic anemia type 1 › anemia, congenital dyserythropoietic, type 1a

Related subtypes (1): congenital dyserythropoietic anemia type type 1B

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

267 retrieved; paginated sample, class counts are floors:

150 uncertain significance, 27 conflicting classifications of pathogenicity, 21 likely benign, 21 benign/likely benign, 18 benign, 17 likely pathogenic, 7 pathogenic, 6 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1322044	NM_138477.4(CDAN1):c.2852_2853del (p.Glu951fs)	CDAN1	Pathogenic	criteria provided, multiple submitters, no conflicts
1322045	NM_138477.4(CDAN1):c.1055_1056del (p.Leu352fs)	CDAN1	Pathogenic	criteria provided, single submitter
1703721	NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)	CDAN1	Pathogenic	no assertion criteria provided
21746	NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)	CDAN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
21748	NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)	CDAN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2920867	NM_138477.4(CDAN1):c.1596dup (p.Met533fs)	CDAN1	Pathogenic	criteria provided, multiple submitters, no conflicts
2920943	NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)	CDAN1	Pathogenic	criteria provided, single submitter
3176	NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)	CDAN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3177	NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)	CDAN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3179	NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)	CDAN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3577121	NM_138477.4(CDAN1):c.2044C>T (p.Arg682Ter)	CDAN1	Pathogenic	criteria provided, multiple submitters, no conflicts
4081236	NM_138477.4(CDAN1):c.1791_1792delinsTCTTGCCCTGGCTTGAAGA (p.Glu597_Leu598delinsAspLeuAlaLeuAlaTer)	CDAN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
827786	NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter)	CDAN1	Pathogenic	no assertion criteria provided
2438921	NM_138477.4(CDAN1):c.788del (p.Gln263fs)	CDAN1	Likely pathogenic	criteria provided, single submitter
2584446	NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)	CDAN1	Likely pathogenic	criteria provided, single submitter
2585182	NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)	CDAN1	Likely pathogenic	criteria provided, single submitter
2690561	NM_138477.4(CDAN1):c.230del (p.Gly77fs)	CDAN1	Likely pathogenic	criteria provided, single submitter
2690562	NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)	CDAN1	Likely pathogenic	criteria provided, single submitter
3178	NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser)	CDAN1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3336216	NM_138477.4(CDAN1):c.152C>T (p.Pro51Leu)	CDAN1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3338545	NM_138477.4(CDAN1):c.3338T>C (p.Leu1113Pro)	CDAN1	Likely pathogenic	criteria provided, single submitter
3577117	NM_138477.4(CDAN1):c.3204+1G>A	CDAN1	Likely pathogenic	criteria provided, single submitter
3577118	NM_138477.4(CDAN1):c.2783_2789delinsTGGGGCGG (p.Gln928fs)	CDAN1	Likely pathogenic	criteria provided, single submitter
3577119	NM_138477.4(CDAN1):c.2632_2633del (p.Val878fs)	CDAN1	Likely pathogenic	criteria provided, single submitter
3577122	NM_138477.4(CDAN1):c.774-1G>T	CDAN1	Likely pathogenic	criteria provided, single submitter
3577123	NM_138477.4(CDAN1):c.175G>T (p.Glu59Ter)	CDAN1	Likely pathogenic	criteria provided, single submitter
3577124	NM_138477.4(CDAN1):c.148_151dup (p.Pro51fs)	CDAN1	Likely pathogenic	criteria provided, single submitter
4081235	NM_138477.4(CDAN1):c.1686dup (p.Thr563fs)	CDAN1	Likely pathogenic	criteria provided, single submitter
4081237	NM_138477.4(CDAN1):c.2265del (p.Thr757fs)	CDAN1	Likely pathogenic	criteria provided, single submitter
4820179	NM_138477.4(CDAN1):c.2539C>T (p.Gln847Ter)	CDAN1	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · 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
CDAN1	Definitive	Autosomal recessive	anemia, congenital dyserythropoietic, type 1a	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CDAN1	Orphanet:98869	Congenital dyserythropoietic anemia type I

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
CDAN1	HGNC:1713	ENSG00000140326	Q8IWY9	Codanin-1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CDAN1	Codanin-1	May act as a negative regulator of ASF1 in chromatin assembly.

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)
CDAN1	Other/Unknown	no		Codanin-1_C, Codanin-1

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
left ovary	1
sural nerve	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CDAN1	230	ubiquitous	marker	ventricular zone, sural nerve, left ovary

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CDAN1	1,056

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CDAN1	Q8IWY9	2

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
import into nucleus	1	2407.4×	0.001	CDAN1
intracellular protein localization	1	104.7×	0.010	CDAN1
chromatin organization	1	99.1×	0.010	CDAN1

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
CDAN1	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	CDAN1

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)
CDAN1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.