Geroderma osteodysplastica
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Geroderma osteodysplastica | |
| fr | Gérodermie ostéodysplasique | |
| de | Geroderma osteodysplastica | |
| es | Gerodermia osteodisplástica | |
| it | Gerodermia osteodisplastica | Nanismo di Walt Disney |
| nl | Geroderma osteodysplastica | |
| pt | Gerodermia osteodisplástica | Nanismo Walt Disney |
| pl | Geroderma osteodysplastica | Karłowatość Walta Disneya |
| cs | Geroderma osteodysplastica | Trpaslictví Walta Disneyho |
| uk | Остеодиспластична геродерма | |
| zh | 骨发育不良性老年状皮肤 | |
| tr | Geroderma osteodisplastika |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231070 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0009271 | E | validated | |
| MeSH | C537799 | E | validated | |
| UMLS | C0432255 | E | validated | |
| GARD | 413 | 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 (2):
- ORPHA:209Cutis laxa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases - ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GORAB | Disease-causing germline mutation(s) in | Assessed | HGNC:25676 | ENSG00000120370 | 607983 | 1q24.2 | golgin, RAB6 interacting | 18997784[PMID] |
| PYCR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9721 | ENSG00000183010 | 179035 | 17q25.3 | pyrroline-5-carboxylate reductase 1 | 21204221[PMID]_24035636[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 18304158[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0004568 | Beaking of vertebral bodies | |
| HP:0004586 | Biconcave vertebral bodies | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001382 | Joint hypermobility | |
| HP:0000939 | Osteoporosis | |
| HP:0002757 | Recurrent fractures | |
| HP:0001582 | Redundant skin | |
| HP:0003510 | Severe short stature | |
| HP:0000963 | Thin skin | |
| HP:0002953 | Vertebral compression fracture | |
| Frequent (79-30%) | ||
| HP:0001510 | Growth delay | |
| HP:0002827 | Hip dislocation | |
| HP:0001252 | Hypotonia | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0001263 | Global developmental delay | |
| HP:0100790 | Hernia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000272 | Malar flattening | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000482 | Microcornea | |
| HP:0000768 | Pectus carinatum | |
| HP:0001763 | Pes planus | |
| HP:0000926 | Platyspondyly | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0001883 | Talipes | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2078
- This record as JSON: /data/d/2078.json