X-linked intellectual disability, Shashi type
Synonyms: Syndromic X-linked intellectual disability type 11
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Shashi type | Syndromic X-linked intellectual disability type 11 |
| fr | Déficience intellectuelle liée à l'X type Shashi | Déficience intellectuelle liée à l'X syndromique type 11 |
| de | Intelligenzminderung, X-chromosomale, Typ Shashi | Intelligenzminderung, X-chromosomale, syndromale, Typ 11 |
| es | Discapacidad intelectual ligada al cromosoma X tipo Shashi | Discapacidad intelectual sindrómica ligada al cromosoma X tipo 11 |
| it | Disabilità intellettiva legata all'X, tipo Shashi | Disabilità intellettiva sindromica legato all'X, tipo 11 |
| nl | X-gebonden intellectuele achterstand, Shashi-type | Syndromale X-gebonden intellectuele achterstand type 11 |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Shashi | Perturbação do desenvolvimento intelectual sindromática ligada ao X tipo 11 |
| pl | Niepełnosprawność intelektualna typu Shashi sprzężona z chromosomem X | Syndromiczna niepełnosprawność intelektualna sprzężona z chromosomem X typu 11 |
| cs | X-vázaná mentální retardace, Shashiové typ | Syndromická X-vázaná mentální retardace, typ 11 |
| uk | Х-зчеплена розумова відсталість, тип Шаші | Синдромальна Х-зчеплена розумова відсталість, тип 11 |
| zh | X连锁智力障碍，Shashi型 | 综合征性X-连锁智力障碍11型 |
| tr | X'e bağlı zihinsel yetersizlik, Shashi tipi | Sendromik X'e bağlı zihinsel yetersizlik tip 11 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300238 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010277 | E | validated | |
| UMLS | C4305085 | E | validated | |
| GARD | 4119 | 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: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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RBMX | Disease-causing germline mutation(s) in | Assessed | HGNC:9910 | ENSG00000147274 | 300199 | Xq26.3 | RNA binding motif protein X-linked | 25256757[PMID]_34260915[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 12605440[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12605440[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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0000414 | Bulbous nose | |
| HP:0000280 | Coarse facial features | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000053 | Macroorchidism | |
| HP:0000400 | Macrotia | |
| HP:0001513 | Obesity | |
| HP:0100540 | Palpebral edema | |
| HP:0000336 | Prominent supraorbital ridges | |
| Occasional (29-5%) | ||
| HP:0001250 | Seizure | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 10677307[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85286
- This record as JSON: /data/d/85286.json