X-linked reticulate pigmentary disorder
Synonyms: XLPDR · Familial cutaneous amyloidosis · PDR · Partington disease · X-linked cutaneous amyloidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood
- Status
- active
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked reticulate pigmentary disorder | XLPDR · Familial cutaneous amyloidosis · PDR · Partington disease · X-linked cutaneous amyloidosis |
| fr | Pigmentation réticulée liée au chromosome X | Amylose cutanée familiale · Amylose cutanée liée à l'X · Maladie de Partington · XLPDR |
| de | X-chromosomale retikuläre Pigmentierungsstörung | Amyloidose, kutane, X-chromosomale · Amyloidose, kutane, familiäre Form · PDR · Partington-Krankheit · XLPDR |
| es | Trastorno pigmentario reticular ligado al cromosoma X | Amiloidosis cutánea familiar · Amiloidosis cutánea ligada al cromosoma X · Enfermedad de Partington · PDR · XLPDR |
| it | Disturbo reticolare della pigmentazione legato all'X con segni sistemici | Amiloidosi cutanea familiare · Amiloidosi cutanea legata all'X · Amiloidosi di Partington · Malattia di Partington · PDR · XLPDR |
| nl | X-gebonden reticulaire pigmentstoornis | Familiale cutane amyloïdose · PDR · X-gebonden cutane amyloïdose · XLPDR · Ziekte van Partington |
| pt | Doença de Partington | |
| pl | Siateczkowate zaburzenie barwnikowe sprzężone z chromosomem X | Amyloidoza skórna sprzężona z chromosomem X · Choroba Partingtona · PDR · Rodzinna amyloidoza skórna · PDR · XLPDR · Choroba Partingtona · Rodzinna amyloidoza skórna · Amyloidoza skórna sprzężona z chromosomem X |
| cs | X-vázaná porucha retikulární pigmentace se systémovou manifestací | Familiární kožní amyloidóza · PDR · Partingtonova nemoc · X-vázaná kožní amyloidóza · XLPDR |
| uk | Х-зчеплене ретикулярне пігментне захворювання | Сімейний шкірний амілоїдоз · Хвороба Паркінсона · PDR · Х-зчеплений шкірний амілоїдоз · XLPDR |
| zh | X-连锁网状色素异常症 | X-连锁皮肤淀粉样变 |
| tr | X'e bağlı retikülat pigment bozukluğu | PDR · XLPDR · Partington hastalığı · Ailesel kutanöz amiloidoz · X'e bağlı kutanöz amiloidoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301220 | E | validated | |
| ICD-10 | E85.0+ | NTBT | attributed | validated |
| ICD-10 | L99.0* | NTBT | attributed | validated |
| ICD-11 | 5D00.Y | NTBT | attributed | validated |
| MONDO | 0010523 | E | validated | |
| MeSH | C564461 | E | validated | |
| UMLS | C1845050 | 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 (7):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:717868Rare skin disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLA1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9173 | ENSG00000101868 | 312040 | Xp22.11-p21.3 | DNA polymerase alpha 1, catalytic subunit | 27019227[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Not yet 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/85453
- This record as JSON: /data/d/85453.json