Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive

Summary

Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive (MONDO:0030711) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive
Mondo ID	MONDO:0030711
OMIM	619789
DOID	DOID:0051001
UMLS	C5676940
MedGen	1800829
GARD	0025619
Is cancer (heuristic)	no

Also known as: anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive · CDA, IIA IIIB · CDAN3B

Data availability: 2 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia › normocytic anemia › hemolytic anemia › familial hemolytic anemia › congenital dyserythropoietic anemia › Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive

Related subtypes (8): congenital dyserythropoietic anemia type 3, congenital dyserythropoietic anemia type 2, X-linked dyserythropoetic anemia with abnormal platelets and neutropenia, pancreatic insufficiency-anemia-hyperostosis syndrome, congenital dyserythropoietic anemia type 4, thrombocytopenia with congenital dyserythropoietic anemia, congenital dyserythropoietic anemia type 1, anemia, congenital dyserythropoietic, type IVb

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

2 retrieved; paginated sample, class counts are floors:

2 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1344520	NM_001319999.2(RACGAP1):c.1294C>T (p.Pro432Ser)	RACGAP1	Pathogenic	no assertion criteria provided
1693582	NM_001319999.2(RACGAP1):c.658A>G (p.Thr220Ala)	RACGAP1	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · 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
RACGAP1	Limited	Autosomal recessive	Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RACGAP1	Orphanet:98870	Congenital dyserythropoietic anemia type III

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
RACGAP1	HGNC:9804	ENSG00000161800	Q9H0H5	Rac GTPase-activating protein 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RACGAP1	Rac GTPase-activating protein 1	Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis.

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)
RACGAP1	Other/Unknown	no		RhoGAP_dom, PKC_DAG/PE, Rho_GTPase_activation_prot

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
ganglionic eminence	1
trabecular bone tissue	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RACGAP1	272	ubiquitous	marker	ventricular zone, ganglionic eminence, trabecular bone tissue

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RACGAP1	2,785

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
RACGAP1	Q9H0H5	7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 11. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways 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.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
RHOD GTPase cycle	1	203.9×	0.014	RACGAP1
Kinesins	1	178.4×	0.014	RACGAP1
RHOB GTPase cycle	1	154.3×	0.014	RACGAP1
RHOC GTPase cycle	1	146.4×	0.014	RACGAP1
RAC2 GTPase cycle	1	126.9×	0.014	RACGAP1
RAC3 GTPase cycle	1	119.0×	0.014	RACGAP1
COPI-dependent Golgi-to-ER retrograde traffic	1	110.9×	0.014	RACGAP1
MHC class II antigen presentation	1	89.2×	0.015	RACGAP1
RHOA GTPase cycle	1	74.6×	0.015	RACGAP1
CDC42 GTPase cycle	1	72.3×	0.015	RACGAP1
RAC1 GTPase cycle	1	61.1×	0.016	RACGAP1

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
actomyosin contractile ring assembly	1	4213.0×	0.003	RACGAP1
regulation of attachment of spindle microtubules to kinetochore	1	1685.2×	0.003	RACGAP1
mitotic spindle midzone assembly	1	1532.0×	0.003	RACGAP1
sulfate transmembrane transport	1	1203.7×	0.003	RACGAP1
positive regulation of cytokinesis	1	401.2×	0.005	RACGAP1
neuroblast proliferation	1	366.4×	0.005	RACGAP1
regulation of embryonic development	1	330.4×	0.005	RACGAP1
erythrocyte differentiation	1	267.5×	0.005	RACGAP1
mitotic cytokinesis	1	259.3×	0.005	RACGAP1
Rho protein signal transduction	1	247.8×	0.005	RACGAP1
monoatomic ion transport	1	156.0×	0.008	RACGAP1
regulation of small GTPase mediated signal transduction	1	144.0×	0.008	RACGAP1
spermatogenesis	1	35.2×	0.028	RACGAP1

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
RACGAP1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
RACGAP1	1	Functional:1

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	RACGAP1

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)
RACGAP1	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.