ORPHA:3085
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
historical
Synonyms: Edwards-Sethi syndrome · Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome · Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome | Edwards-Sethi syndrome · Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome · Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome |
| fr | Syndrome de rétinite pigmentaire-déficience intellectuelle-surdité-hypogonadisme | Syndrome de rétinite pigmentaire-déficience intellectuelle-surdité-hypogénitalisme |
| de | Retinitis pigmentosa-Intelligenzminderung-Taubheit-Hypogonadismus-Syndrom | Edwards-Sethi-Syndrom · Retinitis pigmentosa-Intelligenzminderung- Labyrinthschwerhörigkeit-Hypogenitalismus-Syndrom · Retinitis pigmentosa-Intelligenzminderung-sensorineuraler Hörverlust-Hypogenitalismus-Syndrom |
| es | Síndrome de retinosis pigmentaria-discapacidad intelectual-sordera-hipogonadismo | Síndrome de Edwards-Sethi · Síndrome de retinosis pigmentaria-discapacidad intelectual-hipoacusia neurosensorial-hipogenitalismo · Síndrome de retinosis pigmentaria-discapacidad intelectual-sordera laberíntica-hipogenitalismo |
| it | Sindrome retinite pigmentosa-disabilità intellettiva-sordità-ipogonadismo | Sindrome di Edwards-Sethi · Sindrome retinite pigmentosa-disabilità intellettiva-sordità labirintica-ipogenitalismo · Sindrome retinite pigmentosa-disabilità intellettiva-perdita delludito neurosensoriale-ipogenitalismo |
| nl | Retinitis pigmentosa - intellectuele achterstand - doofheid - hypogonadisme-syndroom | Retinitis pigmentosa - intellectuele achterstand - labyrintische doofheid - hypogenitalisme-syndroom · Retinitis pigmentosa - intellectuele achterstand - sensorineuraal gehoorverlies - hypogenitalisme-syndroom |
| pt | Síndrome de retinite pigmentosa-perturbação do desenvolvimento intelectual-surdez-hipogonadismo | Sindrome Edwards-Seth · Síndrome de retinite pigmentosa-perturbação do desenvolvimento intelectual-surdez labirintina-hipogenitalismo · Síndrome de retinite pigmentosa-perturbação do desenvolvimento intelectual-surdez neurossensorial-hipogonadismo |
| pl | Zwyrodnienie barwnikowe siatkówki - niepełnosprawność intelektualna - głuchota - hipogenitalizm | = en |
| cs | Syndrom zahrnující retinitis pigmentosa, mentální retardaci, hluchotu a hypogenitalismus | = en |
| uk | Синдром пігментної дегенерація сітківки - інтелектуальної недостатності - глухоти - гіпогонадизму | Синдром Едвардса-Сеті · Синдром пігментної дегенерації сітківки-інтелектуальноїа недостатності-лабіринтовоїа глухоти-гіпогеніталізму · Синдром пігментного ретиніту-інтелектуальної недостатності-сенсоневральноїа приглуховатості- гіпогеніталізму |
| zh | 色素性视网膜炎-智力障碍-耳聋-性腺功能减退综合征 | 色素性视网膜炎-智力障碍-感音神经性听觉丧失-性腺功能减退综合征 |
| tr | Retinitis pigmentoza-zihinsel yetersizlik-sağırlık-hipogonadizm sendromu | Retinitis pigmentosa-zihinsel yetersizlik- labirentte sağırlık-hipogenitalizm sendromu · Retinitis pigmentosa-zihinsel yetersizlik-sensörinöral işitme kaybı-hipogenitalizm sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268020 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009983 | E | validated | |
| UMLS | C4518330 | E | validated | |
| GARD | 4683 | 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 (6):
- 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:156165Retinal ciliopathy
rare genetic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 8456839[PMID]_1251844[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8456839[PMID]_1251844[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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0008734 | Decreased testicular size | |
| HP:0000771 | Gynecomastia | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0001249 | Intellectual disability | |
| HP:0000639 | Nystagmus | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0005978 | Type II diabetes mellitus | |
| Frequent (79-30%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0001769 | Broad foot | |
| HP:0000518 | Cataract | |
| HP:0000280 | Coarse facial features | |
| HP:0000028 | Cryptorchidism | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000958 | Dry skin | |
| HP:0010562 | Keloids | |
| HP:0001513 | Obesity | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0001831 | Short toe | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0003307 | Hyperlordosis | |
| HP:0002808 | Kyphosis | |
| HP:0000147 | Polycystic ovaries | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3085
- This record as JSON: /data/d/3085.json