Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
Synonyms: MDP syndrome · MDPL syndrome · Mandibular hypoplasia-hearing loss-progeroid syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome | MDP syndrome · MDPL syndrome · Mandibular hypoplasia-hearing loss-progeroid syndrome |
| fr | Syndrome d'hypoplasie mandibulaire-surdité-apparence progéroïde-lipodystrophie | Syndrome MDP · Syndrome MDPL |
| de | Mandibuläre Hypoplasie-Schwerhörigkeit-Progeroide Merkmale-Lipodystrophie-Syndrom | MDPL-Syndrom · Mandibuläre Hypoplasie-Hörverlust-Progeroid-Syndrom |
| es | Síndrome de hipoplasia mandibular-sordera-rasgos progeroides-lipodistrofia | Síndrome MDP · Síndrome MDPL · Síndrome progeroide de hipoplasia mandibular-hipoacusia |
| it | Sindrome progeroide con ipoplasia mandibolare e sordità | Sindrome MDP |
| nl | Mandibulaire hypoplasie - doofheid - progeroïde kenmerken - lipodystrofie-syndroom | MDP-syndroom · MDPL-syndroom · Mandibulaire hypoplasie - gehoorverlies - progeroïd-syndroom |
| pt | Síndrome progeroide-surdez-hipoplasia mandibular | |
| pl | Zespół hipoplazji żuchwy-głuchoty-cech progeroidalnych-lipodystrofii | Zespół MDP |
| cs | Progeroidní syndrom zahrnující hypoplázii mandibuly a hluchotu | MDP syndrom |
| uk | Синдром гіпоплазії нижньої щелепи-глухоти-прогероїдних ознак-ліподистрофії | Гіпоплазія нижньої щелепи-глухота-прогероїдний синдром · MDP-синдром · Синдром MDPL |
| zh | 前庭发育不全-耳聋-早衰-脂肪营养不良综合征 | 下颌骨发育不全-听力损失-类早老综合征 |
| tr | Mandibular hipoplazi-sağırlık-progeroid özellikler-lipodistrofi sendromu | MDP sendromu · MDPL sendromu · Mandibular hipoplazi-işitme kayıp-progeroid sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615381 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | attributed | validated |
| MONDO | 0014157 | E | validated | |
| MONDO | 14157 | E | validated | |
| UMLS | C3715192 | E | validated | |
| GARD | 10989 | 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 (5):
- ORPHA:98305Genetic lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9175 | ENSG00000062822 | 174761 | 19q13.33 | DNA polymerase delta 1, catalytic subunit | 23770608[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 28521875[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28521875[PMID] |
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/363649
- This record as JSON: /data/d/363649.json