ORPHA:280679
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Synonyms: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- All ages
- Status
- active
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism |
| fr | Syndrome d'angiopathie de Moyamoya-petite taille-dysmorphie faciale-hypogonadisme hypergonadotrope | Maladie de Moyamoya-petite taille-dysmorphie faciale-hypogonadisme hypergonadotrope |
| de | Moyamoya-Krankheit-Kleinwuchs-Gesichtsdysmorphien-hypergonadotroper Hypogonadismus-Syndrom | Moyamoya-Krankheit - Kleinwuchs - Gesichtsdysmorphien - hypergonadotroper Hypogonadismus |
| es | Síndrome de angiopatía de Moyamoya-talla baja-dismorfia facial-hipogonadismo hipergonadotrópico | Enfermedad de Moyamoya-talla baja-dismorfia facial-hipogonadismo hipergonadotrópico |
| it | Sindrome da angiopatia di moyamoya-bassa statura-dismorfismi facciali-ipogonadismo ipergonadotropo | Malattia di Moyamoya - bassa statura - dismorfismi facciali - ipogonadismo ipergonadotropo |
| nl | Moyamoya-angiopathie - kleine gestalte - faciale dysmorfie - hypergonadotroop hypogonadisme-syndroom | Moyamoya-ziekte - kleine gestalte - faciale dysmorfie - hypergonadotroop hypogonadisme-syndroom |
| pt | Síndrome de angiopatia de Moyamoya-baixa estatura-dismorfia facial-hipogonadismo hipergonadotrópico | Doença de Moyamoya-baixa estatura-dismorfia facial-hipogonadismo hipergonadotrópico |
| pl | Angiopatia Moyamoya - niski wzrost - dysmorfia twarzy - hipogonadyzm hipergonadotropowy | Choroba Moyamoya - niski wzrost - dysmorfia twarzy - hipogonadyzm hipergonadotropowy |
| cs | Syndrom zahrnující Moyamoya angiopatii, malý vzrůst, faciální dysmorfismus a hypergonadotropní hypogonadismus | Onemocnění zahrnující moyamoya, malý vzrůst, faciální dysmorfismus a hypergonadotropní hypogonadismus |
| uk | Синдром ангіопатії Моямоя-низькорослості-дисморфізму обличчя-гіпергонадотропного гіпогонадизму | Хвороба Моямоя - низький зріст - дисморфізм обличчя - гіпергонадотропний гіпогонадизм |
| zh | 烟雾病-身材矮小-面部畸形-高促性腺激素性腺功能减退综合征 | 烟雾病-身材矮小-面部畸形-高促性腺激素减退症 |
| tr | Moyamoya anjiyopati-kısa boy-yüz dismorfizm-hipergonadotropik hipogonadizm sendromu | Moyamoya hastalığı-kısa boy-fasiyal dismorfizm-hipergonadotropik hipogonadizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300845 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.Y | NTBT | index | validated |
| MONDO | 0010448 | E | validated | |
| UMLS | C4518329 | 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 (4):
- 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:477771Rare disorder with a moyamoya angiopathy
rare genetic diseases; rare neurological diseases - ORPHA:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRCC3 | Role in the phenotype of | Assessed | HGNC:24185 | ENSG00000185515 | 300617 | Xq28 | BRCA1/BRCA2-containing complex subunit 3 | 21596366[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 21596366[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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 2020-06-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011834 | Moyamoya phenomenon | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0000027 | Azoospermia | |
| HP:0000518 | Cataract | |
| HP:0001342 | Cerebral hemorrhage | |
| HP:0007970 | Congenital ptosis | |
| HP:0000823 | Delayed puberty | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0004302 | Functional motor deficit | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000316 | Hypertelorism | |
| HP:0000822 | Hypertension | |
| HP:0002140 | Ischemic stroke | |
| HP:0000343 | Long philtrum | |
| HP:0002216 | Premature graying of hair | |
| HP:0000278 | Retrognathia | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0008734 | Decreased testicular size | |
| HP:0000490 | Deeply set eye | |
| HP:0000454 | Flared nostrils | |
| HP:0001263 | Global developmental delay | |
| HP:0000369 | Low-set ears | |
| HP:0001324 | Muscle weakness | |
| HP:0000445 | Wide nose | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20644152[PMID]_21596366[PMID]_25733922[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280679
- This record as JSON: /data/d/280679.json