Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
historical
Synonyms: Chang-Davidson-Carlson syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- No data available
- Status
- historical
A rare endocrine disease characterized by hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. Patients have decreased axillary and pubic hair growth, hypoplastic external genitalia, and small uterus and ovaries. No additional physical development abnormalities or intellectual deficiency are reported. There have been no further descriptions in the literature since 1981.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome | Chang-Davidson-Carlson syndrome |
| fr | Syndrome d'hypogonadisme hypogonadotrope-rétinite pigmentaire | Syndrome de Chang-Davidson-Carlson |
| de | Hypogonadotroper Hypogonadismus-Retinitis pigmentosa-Syndrom | Chang-Davidson-Carlson-Syndrom |
| es | Síndrome de hipogonadismo hipogonadotrópico-retinosis pigmentaria | |
| it | Ipogonadismo ipogonadotropo - retinite pigmentosa | Sindrome di Chang-Davidson-Carlson |
| nl | Hypogonadotroop hypogonadisme - retinitis pigmentosa-syndroom | Syndroom van Chang-Davidson-Carlson |
| pt | Síndrome de hipogonadismo hipogonadotrópico-retinite pigmentosa | Síndrome Chang-Davidson-Carlson |
| pl | Hipogonadyzm hipogonadotropowy - zwyrodnienie barwnikowe siatkówki | Zespół Changa, Davidsona i Carlsona |
| cs | Syndrom zahrnující hypogonadotropní hypogonadismus a retinitis pigmentosa | Changův-Davidsonův-Carlsonův syndrom · Chang-Davidson-Carlsonův syndrom |
| uk | Синдром гіпогонадотропного гіпогонадизму - пігментної дегенерації сітківки | Синдром Чанга-Девідсона-Карлсона |
| zh | 低促性腺激素性性腺功能减退-视网膜色素变性综合症 | Chang-Davidson-Carlson综合症 |
| tr | Hipogonadotropik hipogonadizm-retinitis pigmentosa sendromu | Chang-Davidson-Carlson sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E23.0 | NTBT | inclusion | validated |
| MONDO | 0016386 | E | validated | |
| MeSH | C538075 | E | validated | |
| UMLS | C2931722 | 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:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:716342Rare disorder with progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
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 | 2 cases | Worldwide | Case(s) | Validated | 6795223[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6795223[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
20 annotations · validated 2017-05-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0000510 | Rod-cone dystrophy | |
| Very frequent (99-80%) | ||
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0000830 | Anterior hypopituitarism | |
| HP:0003187 | Breast hypoplasia | |
| HP:0000144 | Decreased fertility | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0008724 | Hypoplasia of the ovary | |
| HP:0003164 | Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency | |
| HP:0000939 | Osteoporosis | |
| HP:0000786 | Primary amenorrhea | |
| HP:0008202 | Reduced circulating prolactin concentration | |
| HP:0008240 | Secondary growth hormone deficiency | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0001513 | Obesity | |
| HP:0002757 | Recurrent fractures | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0004322 | Short stature | |
Annotation source: 6795223[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2235
- This record as JSON: /data/d/2235.json