ORPHA:90153
Mandibuloacral dysplasia with type A lipodystrophy
Synonyms: MADA
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Mandibuloacral dysplasia
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mandibuloacral dysplasia with type A lipodystrophy | MADA |
| fr | Dysplasie mandibulo-acrale avec lipodystrophie de type A | = en |
| de | Mandibuloakrale Dysplasie mit Lipodystrophie Typ A | = en |
| es | Displasia mandibuloacral con lipodistrofia tipo A | = en |
| it | Displasia mandiboloacrale con lipodistrofia tipo A | = en |
| nl | Mandibuloacrale dysplasie met lipodystrofie type A | = en |
| pt | Displasia mandibuloacral com lipodistrofia tipo A | = en |
| pl | Dysplazja żuchwowo-obojczykowa z lipodystrofią typu A | = en |
| cs | Mandibuloakrální dysplázie s lipodystrofií typu A | = en |
| uk | Мандибулоакральна дисплазія з ліподистрофією, тип А | МАДА |
| zh | 下颌末端发育不良伴脂肪代谢障碍A型 | |
| tr | Tip A lipodistrofi ile seyreden mandibuloakral displazi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248370 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD27.6Z | NTBT | index | validated |
| MONDO | 0009557 | E | validated | |
| MeSH | C535705 | E | validated | |
| UMLS | C5399785 | E | validated | |
| GARD | 3374 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:300763Laminopathy with lipodystrophy
rare genetic diseases - ORPHA:2457Mandibuloacral dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders; rare endocrine diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNA | Disease-causing germline mutation(s) in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 12075506[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001870 | Acroosteolysis of distal phalanges (feet) | |
| HP:0001596 | Alopecia | |
| HP:0006710 | Aplasia/Hypoplasia of the clavicles | |
| HP:0004334 | Dermal atrophy | |
| HP:0000239 | Large fontanelles | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002797 | Osteolysis | |
| HP:0009839 | Osteolytic defects of the distal phalanges of the hand | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0005328 | Progeroid facial appearance | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0000963 | Thin skin | |
| HP:0002645 | Wormian bones | |
| Frequent (79-30%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0003077 | Hyperlipidemia | |
| HP:0000855 | Insulin resistance | |
| HP:0000520 | Proptosis | |
| Occasional (29-5%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0003011 | Abnormality of the musculature | |
| HP:0000561 | Absent eyelashes | |
| HP:0002829 | Arthralgia | |
| HP:0100783 | Breast aplasia | |
| HP:0000518 | Cataract | |
| HP:0001371 | Flexion contracture | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001252 | Hypotonia | |
| HP:0100679 | Lack of skin elasticity | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90153
- This record as JSON: /data/d/90153.json