Mandibuloacral dysplasia associated to MTX2
Synonyms: MADaM · MDPS · Mandibuloacral dysplasia progeroid syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare primary bone dysplasia characterized by postnatal growth retardation, generalized lipodystrophy, skeletal (delayed closure of sutures, clavicular hypoplasia, dysplastic femoral head, acroosteolysis of distal phalanges, osteopenia/osteoporosis) and cardiac manifestations (including left ventricular hypertrophy, mitral valve calcifications/prolapse/insufficiency and mitral regurgitation), skin changes (atrophic skin, poikiloderma and hyperkeratosis), progeroid traits, and dysmorphic facial features (including prominent eyes, long pinched nose, full cheeks, microstomia and mandibular hypoplasia). Most of the patients also present with sparse body hair, nail dystrophy, joint contracture, hypotonia, hepatosplenomegaly and hypertension. Additional clinical features may include renal glomerulosclerosis and severe proteinuria, recurrent pulmonary infections and seizures.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mandibuloacral dysplasia associated to MTX2 | MADaM · MDPS · Mandibuloacral dysplasia progeroid syndrome |
| fr | Dysplasie mandibulo-acrale associée à MTX2 | Dysplasie mandibulo-acrale-syndrome progéroïde · MADaM · MDPS |
| de | Dysplasie, mandibulo-akrale, MTX2-assoziierte | MADaM · MDPS · Mandibuloakrale Dysplasie-Progeroid-Syndrom |
| es | Displasia acromandibular asociada a MTX2 | MADaM · MDPS · Síndrome progeroide displasia acromandibular |
| it | Displasia mandiboloacrale associata a MTX2 | Displasia mandiboloacrale-sindrome progeroide · MADaM · MDPS |
| nl | Mandibuloacrale dysplasie geassocieerd met MTX2 | MADaM · MDPS · Mandibuloacrale dysplasie - progeroïd-syndroom |
| pt | Displasia mandibuloacral associada a MTX2 | MADaM · MDPS · Síndrome de displasia mandibuloacral progeróide |
| pl | Dysplazja żuchwowo-obojczykowa związana z MTX2 | = en |
| cs | Mandibuloakrální dysplázie spojená s MTX2 | = en |
| uk | Мандибулоакральна дисплазія, асоційована з MTX2 | MADaM · Прогероїдний синдром мандибулоакральної дисплазії · MDPS |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619127 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0030880 | E | validated | |
| MONDO | 30880 | E | validated | |
| UMLS | C5436867 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:93449Primary osteolysis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7506 | ENSG00000128654 | 608555 | 2q31.1 | metaxin 2 | 36269149[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 32917887[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32917887[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/647667
- This record as JSON: /data/d/647667.json