Spondyloepimetaphyseal dysplasia, PAPSS2 type
Synonyms: Spondyloepimetaphyseal dysplasia, Pakistani type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare spondyloepimetaphyseal dysplasia characterized by disproportionate short stature associated with variable manifestations, including short lower limbs, genu varum, genu valgum, mild brachydactyly, spinal deformity, such as kyphoscoliosis, abnormal gait, enlarged knee and ankle joints, patella dislocations, limited flexion in the metacarpophalangeal joints, precocious osteoarthropathy, stiffness, and pain.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia, PAPSS2 type | Spondyloepimetaphyseal dysplasia, Pakistani type |
| fr | Dysplasie spondylo-épimétaphysaire type PAPPS2 | Dysplasie spondylo-épimétaphysaire type Pakistani |
| de | Dysplasie, spondyloepimetaphysäre, Typ PAPSS2 | Spondyloepimetaphysäre Dysplasie, pakistanischer Typ |
| es | Displasia espondiloepifisaria tipo PAPSS2 | Displasia espondiloepifisaria tipo paquistaní |
| it | Displasia spondiloepimetafisaria, tipo pachistano | |
| nl | Spondylo-epimetafysaire dysplasie, PAPSS2-type | Spondylo-epimetafysaire dysplasie, Pakistani-type |
| pt | Displasia espondiloepifisária tipo Pakistani | |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa typu pakistańskiego | = en |
| cs | Spondyloepimetafyzární dysplázie, typ PAPSS2 | Spondyloepimetafyzární dysplázie, pakistánský typ |
| uk | Спондилоепіметафізарна дисплазія, тип PAPSS2 | Спондилоепіметафізарна дисплазія, пакистанський тип |
| zh | 脊椎骨骺发育不良， PAPSS2型 | 脊椎干骺端发育不全，Pakistani型 |
| tr | Spondiloepimetafizyal displazi, PAPSS2 tipi | Spondiloepimetafizyal displazi, Pakistan tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612847 | NTBT | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0019666 | E | validated | |
| MeSH | C567551 | E | validated | |
| UMLS | C2748515 | 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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93423Sulfation-related bone disorder
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAPSS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8604 | ENSG00000198682 | 603005 | 10q23.2-q23.31 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | 9771708[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93282
- This record as JSON: /data/d/93282.json