Hereditary bullous dystrophy, macular type
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- historical
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary bullous dystrophy, macular type | |
| fr | Dystrophie bulleuse héréditaire type maculaire | |
| de | Dystrophie, bullöse, hereditäre, makulärer Typ | |
| es | Distrofia ampollosa hereditaria tipo macular | Distrofia bullosa hereditaria tipo macular |
| it | Distrofia bollosa ereditaria, tipo maculare | |
| nl | Erfelijke bulleuze dystrofie, maculair type | |
| pt | Epidermólise bolhosa hereditária, tipo macular | |
| pl | Dystrofia pchęrzowa typu plamkowego | |
| cs | Bulózní dystrofie, makulární typ | |
| uk | Спадкова бульозная дистрофія, макулярний тип | |
| zh | 遗传性大疱性营养不良，斑点型 | |
| tr | Kalıtsal büllöz distrofi, maküler tip |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 302000 | E | validated | |
| ICD-10 | Q81.8 | NTBT | attributed | validated |
| MONDO | 0010540 | E | validated | |
| MeSH | C563065 | E | validated | |
| UMLS | C0795974 | E | validated | |
| GARD | 1038 | 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 (3):
- ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 7943046[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7943046[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
23 annotations · validated 2021-01-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001063 | Acrocyanosis | |
| HP:0001596 | Alopecia | |
| HP:0011361 | Congenital abnormal hair pattern | |
| HP:0007957 | Corneal opacity | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000252 | Microcephaly | |
| HP:0008404 | Nail dystrophy | |
| HP:0002090 | Pneumonia | |
| HP:0009381 | Short finger | |
| HP:0004322 | Short stature | |
| HP:0005590 | Spotty hypopigmentation | |
| HP:0001182 | Tapered finger | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0500262 | Atrichia | |
| HP:0000518 | Cataract | |
| HP:0000028 | Cryptorchidism | |
| HP:0008734 | Decreased testicular size | |
| HP:0003241 | External genital hypoplasia | |
| HP:0001510 | Growth delay | |
| HP:0030148 | Heart murmur | |
| HP:0000262 | Turricephaly | |
Annotation source: 7943046[PMID]_7726164[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1867
- This record as JSON: /data/d/1867.json