mandibuloacral dysplasia progeroid syndrome
MONDO:0030880Mondo
Findings
No curated finding names mandibuloacral dysplasia progeroid syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in childhood · Childhood onset
HPO, annotations 2026-09-02
Features
56 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.
- Postnatal growth retardationHPOHP:0008897
- 6 of 6 reported patients
- Short statureHPOHP:0004322
- 6 of 6 reported patients
- Generalized hypotoniaHPOHP:0001290
- 5 of 6 reported patients
- Delayed cranial suture closureHPOHP:0000270
- 5 of 7 reported patients
- MicrognathiaHPOHP:0000347
- 5 of 7 reported patients
- Narrow mouthHPOHP:0000160
- 5 of 7 reported patients
- Sparse hairHPOHP:0008070
- 5 of 7 reported patients
- Flexion contractureHPOHP:0001371
- 4 of 7 reported patients
- Generalized lipodystrophyHPOHP:0009064
- 4 of 7 reported patients
- HepatomegalyHPOHP:0002240
- 4 of 7 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 3 of 7 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- 3 of 7 reported patients
Show the remaining 44
- Left ventricular hypertrophyHPOHP:0001712
- 3 of 7 reported patients
- Osteolytic defects of the phalanges of the handHPOHP:0009771
- 3 of 7 reported patients
- OsteopeniaHPOHP:0000938
- 3 of 7 reported patients
- ProteinuriaHPOHP:0000093
- 3 of 7 reported patients
- Sparse eyebrowHPOHP:0045075
- 3 of 7 reported patients
- Bulbous noseHPOHP:0000414
- 2 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.
- MTX2HGNC:7506
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: mandibuloacral dysplasia progeroid syndrome
- Also called
- mandibuloacral dysplasia associated to MTX2MDPS