Autoerythrocyte sensitization syndrome

Summary

Autoerythrocyte sensitization syndrome (MONDO:0017943) is a disease. A subtype of autoimmune disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 42

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		170	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

42 HPO clinical features (Orphanet curated; top 42 by frequency):

HPO ID	Term	Frequency
HP:0000978	Bruising susceptibility	Very frequent (80-99%)
HP:0031364	Ecchymosis	Very frequent (80-99%)
HP:0012531	Pain	Frequent (30-79%)
HP:0000708	Atypical behavior	Frequent (30-79%)
HP:0040064	Abnormality of limbs	Frequent (30-79%)
HP:0031190	Superficial dermal perivascular inflammatory infiltrate	Frequent (30-79%)
HP:0012378	Fatigue	Occasional (5-29%)
HP:0025406	Asthenia	Occasional (5-29%)
HP:0002315	Headache	Occasional (5-29%)
HP:0001945	Fever	Occasional (5-29%)
HP:0002829	Arthralgia	Occasional (5-29%)
HP:0003326	Myalgia	Occasional (5-29%)
HP:0000421	Epistaxis	Occasional (5-29%)
HP:0000790	Hematuria	Occasional (5-29%)
HP:0033676	Posttraumatic stress symptom	Occasional (5-29%)
HP:0008352	Impaired platelet adhesion	Occasional (5-29%)
HP:0003645	Prolonged partial thromboplastin time	Occasional (5-29%)
HP:0000716	Depression	Occasional (5-29%)
HP:0000739	Anxiety	Occasional (5-29%)
HP:0000989	Pruritus	Occasional (5-29%)
HP:0025474	Erythematous plaque	Occasional (5-29%)
HP:0000969	Edema	Occasional (5-29%)
HP:0000271	Abnormality of the face	Occasional (5-29%)
HP:0002321	Vertigo	Occasional (5-29%)
HP:0410019	Epigastric pain	Occasional (5-29%)
HP:0002018	Nausea	Occasional (5-29%)
HP:0002013	Vomiting	Occasional (5-29%)
HP:0002014	Diarrhea	Occasional (5-29%)
HP:0000132	Menorrhagia	Occasional (5-29%)
HP:0000712	Emotional lability	Occasional (5-29%)
HP:0100716	Self-injurious behavior	Occasional (5-29%)
HP:0030140	Oral cavity bleeding	Occasional (5-29%)
HP:0012233	Intramuscular hematoma	Occasional (5-29%)
HP:0000707	Abnormality of the nervous system	Occasional (5-29%)
HP:0008770	Obsessive-compulsive trait	Occasional (5-29%)
HP:0012076	Borderline personality disorder	Occasional (5-29%)
HP:0002239	Gastrointestinal hemorrhage	Very rare (<1-4%)
HP:0005261	Joint hemorrhage	Very rare (<1-4%)
HP:0002170	Intracranial hemorrhage	Very rare (<1-4%)
HP:0001894	Thrombocytosis	Very rare (<1-4%)
HP:0001877	Abnormal erythrocyte morphology	Very rare (<1-4%)
HP:0001973	Autoimmune thrombocytopenia	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	autoerythrocyte sensitization syndrome
Mondo ID	MONDO:0017943
MeSH	C535645
Orphanet	324636
SNOMED CT	275446004
UMLS	C0301928
MedGen	90141
GARD	0006481
Is cancer (heuristic)	no

Also known as: Autoerythrocyte sensitization · Autoerythrocyte sensitization purpura · Gardner-Diamond syndrome · GDS · painful bruising syndrome · psychogenic purpura

Disease family

This is a subtype of autoimmune disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › immune system disorder › autoimmune disease › autoerythrocyte sensitization syndrome

Related subtypes (46): autoimmune disease, multisystem, infantile-onset, autoimmune disorder of endocrine system, autoimmune disorder of exocrine system, autoimmune disease of ear, nose and throat, autoimmune disorder of gastrointestinal tract, autoimmune disorder of musculoskeletal system, autoimmune disorder of blood, autoimmune disorder of cardiovascular system, phacolytic glaucoma, Jaccoud syndrome, autoimmune disorder of the nervous system, lupus erythematosus, anti-neutrophil antibody associated vasculitis, cryoglobulinemia, CNS demyelinating autoimmune disease, type III hypersensitivity disease, vitiligo, anti-glomerular basement membrane disease, autoimmune pulmonary alveolar proteinosis, Reynolds syndrome, overlapping connective tissue disease, tempi syndrome, immunoglobulin G4-related sclerosing disease, rheumatic fever, autoimmune lymphoproliferative syndrome, secondary neonatal autoimmune disease, euthyroid Graves orbitopathy, Kimura disease, autoimmune thrombocytopenia, autoimmune bullous skin disease, scleroderma, Susac syndrome, undifferentiated connective tissue syndrome, type II hypersensitivity reaction disease, autoimmune urticaria, autoimmune glomerulonephritis, multisystem autoimmune disease due to IKAROS gain of function, autoimmune pulmonary disease due to PD-1 deficiency, non-specific autoimmune supratentorial encephalitis with characteristic antibodies, non-specific autoimmune supratentorial encephalitis without characteristic antibodies, non-specific autoimmune brainstem encephalitis with characteristic antibodies, non-specific autoimmune brainstem encephalitis without characteristic antibodies, non-specific autoimmune cerebellar ataxia with characteristic antibodies, non-specific autoimmune cerebellar ataxia without characteristic antibodies, autoimmune disease with susceptibility to mycobacterium tuberculosis, antiphospholipid syndrome

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

No tiered GWAS variants or ClinVar records for this disease.

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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.