ORPHA:1435
Xq21 microdeletion syndrome
Synonyms: Ayazi syndrome · Del(X)(q21) · Monosomy Xq21
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Xq21 microdeletion syndrome | Ayazi syndrome · Del(X)(q21) · Monosomy Xq21 |
| fr | Syndrome de microdélétion Xq21 | Del(X)(q21) · Monosomie Xq21 · Syndrome d'Ayazi |
| de | Mikrodeletionssyndrom Xq21 | Ayazi-Syndrom · Del(X)(q21) · Monosomie Xq21 |
| es | Síndrome de microdeleción Xq21 | Del(X)(q21) · Monosomía Xq21 · Síndrome de Ayazi |
| it | Coroideremia - obesità - sordità | Sindrome di Ayasi |
| nl | Xq21-microdeletiesyndroom | Del(X)(q21) · Monosomie Xq21 · Syndroom van Ayazi |
| pt | Síndrome de microdeleção Xq21 | Síndrome Ayazi |
| pl | zespół mikrodelecji Xq21 | Zespół Ayazi |
| cs | Syndrom zahrnující choroideremii, hluchotu a obezitu | Ayaziho syndrom |
| uk | Синдром мікроделеції Xq21 | Синдром Аязі · Del(X)(q21) · Моносомія Xq21 |
| zh | Xq21微缺失综合征 | Ayazi综合征 |
| tr | Xq21 mikrodelesyon sendromu | Del (X) (q21) · Monozomi Xq21 · Ayazi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 303110 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0010558 | E | validated | |
| MeSH | C537793 | E | validated | |
| UMLS | C1844836 | E | validated | |
| GARD | 369 | E | validated |
E 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:716342Rare disorder with progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1434OBSOLETE: Choroideremia-hypopituitarism syndrome referred to · inactive
- ORPHA:163988OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POU3F4 | Disease-causing germline mutation(s) in | Assessed | HGNC:9217 | ENSG00000196767 | 300039 | Xq21.1 | POU class 3 homeobox 4 | 17935254[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 7258279[PMID]_2624260[PMID]_17935254[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7258279[PMID]_2624260[PMID]_17935254[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.
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HPO phenotypes
39 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000532 | Chorioretinal abnormality | |
| HP:0200065 | Chorioretinal degeneration | Diagnostic criterion |
| HP:0001139 | Choroideremia | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000375 | Abnormal cochlea morphology | |
| HP:0005109 | Abnormality of the Achilles tendon | |
| HP:0011448 | Ankle clonus | |
| HP:0000830 | Anterior hypopituitarism | Diagnostic criterion |
| HP:0001251 | Ataxia | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0004458 | Dilatated internal auditory canal | |
| HP:0002066 | Gait ataxia | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001513 | Obesity | |
| HP:0000648 | Optic atrophy | |
| HP:0007994 | Peripheral visual field loss | |
| HP:0008245 | Pituitary hypothyroidism | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0007675 | Progressive night blindness | |
| HP:0007663 | Reduced visual acuity | |
| HP:0007937 | Reticular pigmentary degeneration | |
| HP:0000381 | Stapes ankylosis | |
| HP:0030532 | Visual acuity test abnormality | |
| Occasional (29-5%) | ||
| HP:0002075 | Dysdiadochokinesis | |
| HP:0000822 | Hypertension | |
| HP:0000639 | Nystagmus | |
| HP:0001920 | Renal artery stenosis | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0003484 | Upper limb muscle weakness | |
| Excluded (0%) | ||
| HP:0011748 | Adrenocorticotropic hormone deficiency | |
| HP:0010625 | Anterior pituitary dysgenesis | |
| HP:0000863 | Central diabetes insipidus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 26175800[PMID]_22037486[PMID]_17339581[PMID]_7825582[PMID]_2624260[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1435
- This record as JSON: /data/d/1435.json