AMED syndrome, digenic
MONDO:0030894Mondo
Findings
No curated finding names AMED syndrome, digenic yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Digenic inheritance
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnemiaHPOHP:0001903
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- Short statureHPOHP:0004322
- 7 of 7 reported patients
- ThrombocytopeniaHPOHP:0001873
- 6 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 7 reported patients
- MyelodysplasiaHPOHP:0002863
- 6 of 7 reported patients
- Decreased total leukocyte countHPOHP:0001882
- 4 of 7 reported patients
- Hyperpigmentation of the skinHPOHP:0000953
- 4 of 7 reported patients
- Motor regressionHPOHP:0033044
- 4 of 7 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 7 reported patients
- TelecanthusHPOHP:0000506
- 3 of 7 reported patients
- Hypoplasia of the uterusHPOHP:0000013
- 1 of 6 reported patients · Female
Show the remaining 8
- Acute myeloid leukemiaHPOHP:0004808
- 1 of 7 reported patients
- Adrenal hypoplasiaHPOHP:0000835
- 1 of 7 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 7 reported patients
- DolichocephalyHPOHP:0000268
- 1 of 7 reported patients
- Long thumbHPOHP:0032524
- 1 of 7 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ADH5HGNC:253
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: AMED syndrome, digenic
- Also called
- AMeD syndromeAMEDSaplastic anemia-intellectual disability-dwarfism syndromebone marrow failure syndrome 7, digenic