Ahmad syndrome
historical
Synonyms: Intellectual developmental disorder, X-linked, syndromic 7 · MRXS7 · X-linked intellectual disability, Ahmad type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- No data available
- Status
- historical
A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ahmad syndrome | Intellectual developmental disorder, X-linked, syndromic 7 · MRXS7 · X-linked intellectual disability, Ahmad type |
| fr | Syndrome d'Ahmad | Déficience intellectuelle liée à l'X type Ahmad · MRXS7 |
| de | Ahmad-Syndrom | Intelligenzminderung, X-chromosomale, Typ Ahmad · Intelligenzminderung, X-chromosomale, syndromale Typ 7 · MRXS7 |
| es | Síndrome de Ahmad | Trastorno del desarrollo intelectual, ligado al cromosoma X, sindrómico 7 · Discapacidad intelectual ligada al cromosoma X tipo Ahmad · MRXS7 |
| it | Sindrome di Ahmad | MRXS7 · Malattia dello sviluppo intellettivo, legata all'X, sindromica 7 · Disabilità intellettiva legata all'X, tipo Ahmad · Disabilità intellettiva legata all'X, tipo Ahmad |
| nl | Syndroom van Ahmad | MRXS7 · X-gebonden intellectuele achterstand, Ahmad-type · Intellectuele ontwikkelingsstoornis, X-gebonden, syndromaal 7 |
| pt | Perturbação do desenvolvimento intelectual sindromática ligada ao X 7 | MRXS7 · Perturbação do desenvolvimento intelectual ligada ao X, tipo Ahmad |
| pl | Syndromiczna niepełnosprawność intelektualna 7 sprzężona z chromosomem X | MRXS7 · Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Ahmada |
| cs | Syndromická X-vázaná mentální retardace 7 | MRXS7 · X-vázaná mentální retardace, Ahmadův typ |
| uk | Синдромна Х-зчеплена розумова відсталість 7 | MRXS7 · Х-зчеплена розумова відсталість, тип Ахмад |
| zh | 综合征性X连锁智力障碍7型 | X连锁智力障碍，Ahmad型 |
| tr | Sendromik X'e bağlı zihinsel yetersizlik 7 | MRXS7 · X'e bağlı zihinsel yetersizlik, Ahmad tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300218 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010270 | E | validated | |
| MeSH | C537449 | E | validated | |
| UMLS | C1846170 | E | validated | |
| GARD | 9156 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 10573017[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10573017[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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000135 | Hypogonadism | |
| HP:0001249 | Intellectual disability | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001513 | Obesity | |
| HP:0001182 | Tapered finger | |
| Frequent (79-30%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0002546 | Incomprehensible speech | |
| HP:0001324 | Muscle weakness | |
| HP:0004322 | Short stature | |
| HP:0002231 | Sparse body hair | |
| HP:0000692 | Tooth malposition | |
| Occasional (29-5%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000054 | Micropenis | |
| HP:0000572 | Visual loss | |
Annotation source: 10573017[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85274
- This record as JSON: /data/d/85274.json