congenital dyserythropoietic anemia type type 1B

Summary

congenital dyserythropoietic anemia type type 1B (MONDO:0014285) is a disease caused by CDIN1 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: CDIN1 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 23

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital dyserythropoietic anemia type type 1B
Mondo ID	MONDO:0014285
OMIM	615631
DOID	DOID:0111397
UMLS	C3810185
MedGen	816515
GARD	0015994
Is cancer (heuristic)	no

Also known as: anemia, congenital dyserythropoietic, type IB · CDAN1B · congenital dyserythropoietic anemia type type 1B · dyserythropoietic anemia, congenital, type IB

Data availability: 23 ClinVar variants · 1 GenCC gene-disease record.

Disease family

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

Related subtypes (1): anemia, congenital dyserythropoietic, type 1a

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

23 retrieved; paginated sample, class counts are floors:

12 uncertain significance, 7 benign, 3 likely pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
692135	NM_001321759.2(CDIN1):c.689A>C (p.His230Pro)	CDIN1	Likely pathogenic	criteria provided, single submitter
97057	NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)	CDIN1	Likely pathogenic	criteria provided, single submitter
97058	NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)	CDIN1	Likely pathogenic	criteria provided, single submitter
692134	NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser)	CDIN1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2067859	NM_001321759.2(CDIN1):c.98C>T (p.Pro33Leu)	CDIN1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2439610	NM_001321759.2(CDIN1):c.812C>A (p.Thr271Lys)	CDIN1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2688693	NM_001321759.2(CDIN1):c.620G>A (p.Gly207Glu)	CDIN1	Uncertain significance	criteria provided, single submitter
2688694	NM_001321759.2(CDIN1):c.298G>T (p.Ala100Ser)	CDIN1	Uncertain significance	criteria provided, single submitter
3065408	NM_001321759.2(CDIN1):c.206A>G (p.Tyr69Cys)	CDIN1	Uncertain significance	criteria provided, single submitter
3712634	NM_001321759.2(CDIN1):c.301C>T (p.Arg101Trp)	CDIN1	Uncertain significance	criteria provided, multiple submitters, no conflicts
4078131	NM_001321759.2(CDIN1):c.179A>G (p.His60Arg)	CDIN1	Uncertain significance	criteria provided, single submitter
4078132	NM_001321759.2(CDIN1):c.377G>A (p.Arg126Gln)	CDIN1	Uncertain significance	criteria provided, single submitter
4078133	NM_001321759.2(CDIN1):c.197A>C (p.Glu66Ala)	CDIN1	Uncertain significance	criteria provided, multiple submitters, no conflicts
4078134	NM_001321759.2(CDIN1):c.152A>G (p.His51Arg)	CDIN1	Uncertain significance	criteria provided, single submitter
692133	NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg)	CDIN1	Uncertain significance	criteria provided, single submitter
692136	NM_001321759.2(CDIN1):c.707A>G (p.Tyr236Cys)	CDIN1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1174457	NM_001321759.2(CDIN1):c.273+82C>T	CDIN1	Benign	criteria provided, multiple submitters, no conflicts
1183321	NM_001321759.2(CDIN1):c.476+33T>C	CDIN1	Benign	criteria provided, multiple submitters, no conflicts
1192629	NM_001321759.2(CDIN1):c.274-82T>A	CDIN1	Benign	criteria provided, multiple submitters, no conflicts
1192630	NM_001321759.2(CDIN1):c.477-55G>A	CDIN1	Benign	criteria provided, multiple submitters, no conflicts
257531	NM_001321759.2(CDIN1):c.148-19G>T	CDIN1	Benign	criteria provided, multiple submitters, no conflicts
257532	NM_001321759.2(CDIN1):c.217C>G (p.Leu73Val)	CDIN1	Benign	criteria provided, multiple submitters, no conflicts
1181468	NM_001321759.2(CDIN1):c.-105C>T	LOC130056772	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · 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
CDIN1	Strong	Autosomal recessive	congenital dyserythropoietic anemia type type 1B	2

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CDIN1	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
CDIN1	HGNC:26929	ENSG00000186073	Q9Y2V0	CDAN1-interacting nuclease 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CDIN1	CDAN1-interacting nuclease 1	Plays a role in erythroid cell differentiation.

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)
CDIN1	Other/Unknown	no		CDIN1

Expression context

Cohort genes with no expression data: 0.

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
cardiac ventricle	1
heart right ventricle	1
left ventricle myocardium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CDIN1	226	ubiquitous	yes	left ventricle myocardium, heart right ventricle, cardiac ventricle

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CDIN1	1,517

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CDIN1	Q9Y2V0	93.59

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
erythrocyte differentiation	1	267.5×	0.004	CDIN1

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
CDIN1	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	CDIN1

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)
CDIN1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.