ORPHA:700325
NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome
Synonyms: X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome | X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type |
| fr | Syndrome de déficience intellectuelle-dysmorphie facial-habitus marfanoïde-scoliose associé à NKAP | |
| de | Intelligenzminderung-Gesichtsdysmorphien-marfanoider Habitus-Skoliose-Syndrom, NKAP-assoziiert | X-chromosomale syndromale intellektuelle Entwicklungsstörung, Typ Hackmann-Di Donato |
| es | Síndrome de discapacidad intelectual-dismorfia facial-hábito marfanoide-escoliosis asociado a NKAP | Trastorno sindrómico del desarrollo intelectual ligado al cromosoma X, tipo Hackmann-Di Donato |
| it | Sindrome disabilità intellettiva-dismorfismi facciali-habitus marfanoide-scoliosi correlata a NKAP | Malattia sindromica dello sviluppo intellettivo legata all'X, tipo Hackmann-Di Donato |
| nl | NKAP-gerelateerd intellectuele achterstand - faciale dysmorfie - marfanoïde habitus - scoliose-syndroom | X-gebonden syndromale intellectuele ontwikkelingsstoornis, Hackmann-Di Donato-type |
| pt | NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome | |
| pl | NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome | = en |
| cs | NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NKAP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29873 | ENSG00000101882 | 300766 | Xq24 | NFKB activating protein | 31587868[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 31587868[PMID]_38647244[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31587868[PMID]_38647244[PMID]_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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/700325
- This record as JSON: /data/d/700325.json