Isolated congenital adermatoglyphia
Synonyms: Congenital absence of fingerprints · Immigration delay disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital adermatoglyphia | Congenital absence of fingerprints · Immigration delay disease |
| fr | Adermatoglyphie congénitale isolée | Absence congénitale d'empreintes digitales · Absence congénitale de dermatoglyphes |
| de | Adermatoglyphie, isolierte kongenitale | Einwanderungsverzögerungskrankheit · Fehlende Papillarleisten · Kongenitales Fehlen der Fingerabdrücke |
| es | Adermatoglifia congénita aislada | Ausencia congénita de huellas dactilares · Enfermedad de los retrasos en inmigración |
| it | Adermatoglifia congenita isolata | Assenza congenita delle impronte digitali · Malattia del ritardo nel rilascio del visto di immigrazione |
| nl | Geïsoleerde congenitale adermatoglyfie | Congenitale afwezigheid van vingerafdrukken · Immigratievertragingsziekte |
| pt | Adermatoglifia isolada | Ausência de dermatoglifos · Ausência de impressões digitais |
| pl | Izolowana wrodzona adermatoglifia | Wrodzony brak linii papilarnych |
| cs | Vrozená izolovaná adermatoglyfie | Vrozená absence otisků prstů |
| uk | Ізольована вроджена адерматогліфія | Вроджена відсутність відбитків пальців · Хвороба затримки імміграції |
| zh | 孤立性先天性畸形症 | 先天性指纹缺失 |
| tr | İzole doğumsal adermatoglifiya | Göç gecikmesi hastalığı · Doğumsal parmak izi yokluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136000 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| MONDO | 0007619 | E | validated | |
| UMLS | C4706567 | E | validated | |
| GARD | 12550 | 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 (1):
- ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMARCAD1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18398 | ENSG00000163104 | 612761 | 4q22.3 | SNF2 related chromatin remodeling ATPase with DExD box 1 | 21820097[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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/289465
- This record as JSON: /data/d/289465.json