Hematologic disorder

Summary

Hematologic disorder (MONDO:0005570) is a disease (an umbrella term covering 27 Mondo subtypes) with 19 GWAS associations across 16 studies and 130 clinical trials. Top therapeutic interventions include exagamglogene autotemcel, itraconazole, and brentuximab vedotin. A subtype of disease by body system or component — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 27 Mondo subtypes
• GWAS associations: 19
• Clinical trials: 130

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hematologic disorder
Mondo ID	MONDO:0005570
EFO	EFO:0005803
MeSH	D006402
Orphanet	97992
DOID	DOID:74
ICD-10-CM	D50-D89
NCIT	C26323
SNOMED CT	414022008
UMLS	C0018939
MedGen	5483
Anatomy (UBERON)	UBERON:0002390
Is cancer (heuristic)	no

Also known as: blood disease · blood disorder · disease of hematopoietic system · disease of the blood and blood-forming organs · disease or disorder of haematopoietic system · disease or disorder of hematopoietic system · disorder of haematopoietic system · disorder of hematopoietic system · haematological disease · haematological disorder · haematological disorders and malignancies · haematological system disease · haematopoietic disease · haematopoietic system disease or disorder · hematologic and lymphocytic disorder · hematologic disorder · hematological disease · hematological disorder · hematological disorders and malignancies · hematological system disease (+4 more)

Data availability: 19 GWAS associations (16 studies).

Disease family

An umbrella term covering 27 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › hematologic disorder

Related subtypes (18): disorder of orbital region, integumentary system disorder, musculoskeletal system disorder, urinary system disorder, syndromic disease, auditory system disorder, breast disorder, connective tissue disorder, digestive system disorder, cardiovascular disorder, reproductive system disorder, immune system disorder, nervous system disorder, respiratory system disorder, endocrine system disorder, mouth disorder, disorder of visual system, otorhinolaryngologic disease

Subtypes (27): autoimmune disorder of blood, blood coagulation disease, hemorrhagic disease, blood platelet disease, anemia, splenic disorder, hematopoietic and lymphoid system neoplasm, blood group incompatibility, bone marrow disorder, thymus gland disorder, leukocyte disorder, monoclonal gammopathy, septicemic plague, hyperamylasemia, alpha thalassemia-intellectual disability syndrome type 1, Bloom syndrome, congenital hematological disorder, alpha-thalassemia-myelodysplastic syndrome, deafness-lymphedema-leukemia syndrome, L-ferritin deficiency, dyskeratosis congenita, autosomal dominant 6, polyclonal hyperviscosity syndrome, parasitemia, erythrocyte disorder, premalignant hematological system disease, GATA1-Related X-Linked Cytopenia, paraneoplastic hematological syndrome

Genetics & variants

GWAS landscape

19 GWAS associations across 16 studies. Top hits map to 5 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs77375493	2e-199	JAK2	G	3.42
chr9:5073770	6e-23		T	1.22
chr6:32659703	1e-20		A	0.08
rs79220007	5e-17	HFE, H2BC4	T	0.33
chr1:169549811	5e-16		T	0.23
rs144861591	7e-15	H1-2 - H2BC4	C	0.32
chr22:37066896	5e-14		G	0.06
chr17:76736877	4e-13		T	1.73
chr19:12943750	2e-12		A	2.28
chr2:197402110	2e-12		C	1.93
rs34164109	5e-12	HBS1L	C	0.17
rs7775698	7e-12	HBS1L	C	0.15
chr15:90088702	6e-09		T	1.78
chr20:32762670	2e-08		T	1.9
chr10:112406990	3e-08		T	0.05
chr2:169007729	4e-08		A	2.27
rs534010306	5e-08	SMARCB1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473130	UK Biobank Whole-Genome Sequencing Consortium	2025	34,171	424,269	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667919	UK Biobank Whole-Genome Sequencing Consortium	2025	34,171	424,269	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90038602	Donertas HM	2021	26,874	457,724	Common genetic associations between age-related diseases.
GCST90038677	Donertas HM	2021	7,202	477,396	Common genetic associations between age-related diseases.
GCST90475821	Verma A	2024	4,311	438,179	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435829	Zhou W	2018	4,177	401,375	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651730	Liu TY	2025	1,296	225,499	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90473131	UK Biobank Whole-Genome Sequencing Consortium	2025	1,164	8,449	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90475820	Verma A	2024	1,102	118,199	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479994	Verma A	2024	1,102	118,199	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	15

MAF distribution

Bucket	Variants
common (>=0.05)	4
low_freq (0.01-0.05)	0
rare (<0.01)	1
unknown	12

Functional consequences

Consequence	Count
unknown	11
intergenic_variant	3
missense_variant	1
3_prime_UTR_variant	1
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs77375493	9	5073770	G>A,C,T	0	missense_variant	JAK2	2e-199	Tier 1: coding
chr9:5073770							6e-23	Tier 4: intronic/intergenic
chr6:32659703							1e-20	Tier 4: intronic/intergenic
rs79220007	6	26098246	T>C	0.05	3_prime_UTR_variant	HFE, H2BC4	5e-17	Tier 2: splice/UTR
chr1:169549811							5e-16	Tier 4: intronic/intergenic
rs144861591	6	26072764	C>T	0.065	intergenic_variant	H1-2 - H2BC4	7e-15	Tier 4: intronic/intergenic
chr22:37066896							5e-14	Tier 4: intronic/intergenic
chr17:76736877							4e-13	Tier 4: intronic/intergenic
chr19:12943750							2e-12	Tier 4: intronic/intergenic
chr2:197402110							2e-12	Tier 4: intronic/intergenic
rs34164109	6	135100038	C>T	0.255	intergenic_variant	HBS1L	5e-12	Tier 4: intronic/intergenic
rs7775698	6	135097497	C>T	0.242	intergenic_variant	HBS1L	7e-12	Tier 4: intronic/intergenic
chr15:90088702							6e-09	Tier 4: intronic/intergenic
chr20:32762670							2e-08	Tier 4: intronic/intergenic
chr10:112406990							3e-08	Tier 4: intronic/intergenic
chr2:169007729							4e-08	Tier 4: intronic/intergenic
rs534010306	22	23797455	G>GTCT		intron_variant	SMARCB1	5e-08	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

1 approved, 6 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Idecabtagene Vicleucel	Approved (phase 4)
Acetylcysteine	Phase 3 (in late-stage trials)
Bivalirudin	Phase 3 (in late-stage trials)
Decitabine	Phase 3 (in late-stage trials)
Hydroxyurea	Phase 3 (in late-stage trials)
Recombinant Human Thrombopoietin	Phase 3 (in late-stage trials)
Riboflavin	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Benralizumab, Busulfan, Carmustine, Clofarabine, Etoposide, Fibrinogen, Human, Filgrastim, Fludarabine, Influenza Virus Vaccine, Itraconazole, Lenalidomide, Melphalan, Mycophenolate Mofetil, Oprelvekin, Sirolimus, Sodium Bicarbonate, Talquetamab, Thiotepa, Ustekinumab.

Clinical trials & evidence

Clinical trials

Clinical trials: 130.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	86
PHASE2	23
PHASE3	7
PHASE1	5
PHASE4	3
PHASE2/PHASE3	3
PHASE1/PHASE2	2
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02095951	PHASE4	COMPLETED	Preemptive Ethanol Lock Therapy in Pediatric Bloodstream Infection
NCT03004261	PHASE4	COMPLETED	CMV-CTL for the Treatment of CMV Infection After HSCT
NCT03176849	PHASE4	COMPLETED	A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT
NCT05329649	PHASE3	ACTIVE_NOT_RECRUITING	Evaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Severe Sickle Cell Disease (SCD)
NCT00000597	PHASE3	COMPLETED	Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders
NCT00006182	PHASE3	COMPLETED	Stroke Prevention in Sickle Cell Anemia (STOP 2)
NCT00883961	PHASE3	UNKNOWN	Exercise Following Autologous Peripheral Blood Stem Cell Transplantation
NCT00884364	PHASE3	UNKNOWN	Exercise During Chemotherapy for Patients With Hematological Malignancies
NCT01210716	PHASE3	COMPLETED	Evaluation of Therapeutic Plasma Exchange (TPE) Procedure Using the AMICUS Device
NCT02240992	PHASE2/PHASE3	UNKNOWN	MSCs With or Without Peripheral Blood Stem Cell for Treatment of Poor Graft Function and Delayed Platelet Engraftment
NCT02241031	PHASE2/PHASE3	UNKNOWN	Megakaryocytic Progenitor Cells for Prophylaxis and Treatment of Thrombocytopenia
NCT03548766	PHASE3	UNKNOWN	Using DNA-Typing and Erythrocyte Microparticle Analysis to Detect Blood Doping
NCT03745287	PHASE2/PHASE3	COMPLETED	A Safety and Efficacy Study Evaluating CTX001 in Subjects With Severe Sickle Cell Disease
NCT01352520	PHASE2	ACTIVE_NOT_RECRUITING	SGN-35 in CD30-positive Lymphoproliferative Disorders (ALCL), Mycosis Fungoides (MF), and Extensive Lymphomatoid Papulosis (LyP)
NCT04062266	PHASE2	ACTIVE_NOT_RECRUITING	AZA + Venetoclax as Maintenance Therapy in Patients With AML in Remission
NCT04572815	PHASE2	ACTIVE_NOT_RECRUITING	Ustekinumab for the Prevention of Acute Graft-versus-Host Disease After Unrelated Donor Hematopoietic Cell Transplant
NCT04859946	PHASE2	ACTIVE_NOT_RECRUITING	Itacitinib for the Prevention of Graft Versus Host Disease
NCT07303881	PHASE2	NOT_YET_RECRUITING	Golidocitinib for Refractory Immune-related Hematologic Toxicities of Advanced Lung Cancer
NCT00000587	PHASE2	COMPLETED	Erythropoietin for Anemia Due to Zidovudine in Human Immunodeficiency Virus Infection
NCT00029393	PHASE2	COMPLETED	Induction of Stable Chimerism for Sickle Cell Anemia
NCT00486720	PHASE2	TERMINATED	Phase IIa Vorinostat (MK0683, Suberoylanilide Hydroxamic Acid (SAHA)) Study in Lower Risk Myelodysplastic Syndromes (0683-064)
NCT01160952	PHASE2	UNKNOWN	Long-term Versus Short-term Sequential Therapy (Intravenous Itraconazole Followed by Oral Solution) of Itraconazole as Primary Prophylaxis in Patients Undergoing Allogeneic Stem Cell Transplantation
NCT01344681	PHASE2	COMPLETED	Micafungin Versus Intravenous Itraconazole as Empirical Antifungal Therapy for Febrile Neutropenic Patients With Hematological Diseases
NCT01359254	PHASE2	TERMINATED	Cord Blood Transplantation for Patients With Cancer
NCT01670097	PHASE2	COMPLETED	Dexamethasone Dyspnea Study
NCT01763086	PHASE2	UNKNOWN	Mesenchymal Stem Cells for Treatment of Poor Graft Function After Allogeneic Hematopoietic Stem Cell Transplant
NCT01763099	PHASE2	UNKNOWN	Mesenchymal Stem Cells Combined With Cord Blood for Treatment of Graft Failure
NCT01924169	PHASE2	TERMINATED	Lenalidomide as Immune Adjuvant in Patient’s With Chronic Lymphocytic Leukemia (CLL)
NCT02083718	PHASE2	UNKNOWN	Peripheral Blood Stem Cell Combined With Mesenchymal Stem Cells for Treatment of Poor Graft Function
NCT02083731	PHASE2	UNKNOWN	MSC for Treatment of CMV Infection
NCT02158858	PHASE1/PHASE2	COMPLETED	A Phase 1/2 Study of CPI-0610 With and Without Ruxolitinib in Patients With Hematologic and Myeloproliferative Malignancies
NCT02483325	PHASE2	COMPLETED	Study Evaluating the Efficacy of Allogeneic Transplant Conditioning With Adaptive Dose Busulfan Intravenous (Busilvex®) in Patients at High Risk of Carrying Blood Diseases
NCT02661035	PHASE2	COMPLETED	Allo HSCT Using RIC for Hematological Diseases
NCT03195010	PHASE2	TERMINATED	Management of Platelet Transfusion Therapy in Patients With Blood Cancer or Treatment-Induced Thrombocytopenia
NCT03246906	PHASE2	TERMINATED	Comparison of Triple GVHD Prophylaxis Regimens for Nonmyeloablative or Reduced Intensity Conditioning Unrelated Mobilized Blood Cell Transplantation
NCT03520712	PHASE1/PHASE2	TERMINATED	Gene Therapy Study in Severe Hemophilia A Patients With Antibodies Against AAV5
NCT04127721	PHASE2	WITHDRAWN	Itacitinib for the Prevention of Graft Versus Host Disease in Patients Undergoing Donor Stem Cell Transplantation
NCT04339101	PHASE2	COMPLETED	Itacitinib, Tacrolimus, and Sirolimus for the Prevention of GVHD in Patients With Acute Leukemia, Myelodysplastic Syndrome, or Myelofibrosis Undergoing Reduced Intensity Conditioning Donor Stem Cell Transplantation
NCT04806347	PHASE1	NOT_YET_RECRUITING	Alpha/Beta T-cell Depleted Blood-forming Stem Cell Transplant From Related or Unrelated Donors for Blood Diseases in Children and Young Adults
NCT00820508	PHASE1	COMPLETED	Safety and Tolerability of CHR-2845 to Treat Haematological Diseases or Lymphoid Malignancies

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
EXAGAMGLOGENE AUTOTEMCEL	4	2
ITRACONAZOLE	4	2
BRENTUXIMAB VEDOTIN	4	1
CHOLECALCIFEROL	4	1
DIBOTERMIN ALFA	4	1
FOSCARNET	4	1
GANCICLOVIR	4	1
LUSUTROMBOPAG	4	1
MICAFUNGIN SODIUM	4	1
TAFASITAMAB	4	1
USTEKINUMAB	4	1
VALOCTOCOGENE ROXAPARVOVEC	4	1
VORICONAZOLE	4	1
VORINOSTAT	4	1
ITACITINIB	3	3
GINGER	3	1
NANDROLONE	3	1
PELABRESIB	3	1
RAFUTROMBOPAG	3	1
GOLIDOCITINIB	2	1
NANDROLONE CYCLOTATE	2	1
TEFINOSTAT	2	1
CHEMBL3137673	0	1
CHEMBL255682	0	1
HYOSCYAMINE	-1	2