ORPHA:1387
Cataract-intellectual disability-hypogonadism syndrome
Synonyms: Martsolf syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, mild-to-severe intellectual disability and characteristic facial dysmorphism including ptosis, deep-set eyes, wide nasal bridge, macrotia and micrognathia. Common clinical features include brain abnormalities, microcephaly, short stature, hypogonadism, external genital hypoplasia and skeletal abnormalities. Spastic diplegia can sometimes occur.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cataract-intellectual disability-hypogonadism syndrome | Martsolf syndrome |
| fr | Syndrome de cataracte-déficience intellectuelle-hypogonadisme | Syndrome de Martsolf |
| de | Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom | Martsolf-Syndrom |
| es | Síndrome de catarata-discapacidad intelectual-hipogonadismo | Síndrome de Martsolf |
| it | Sindrome cataratta-disabilità intellettiva-ipogonadismo | Sindrome di Marsolf |
| nl | Cataract - intellectuele achterstand - hypogonadisme-syndroom | Syndroom van Martsolf |
| pt | Síndrome de catarata-perturbação do desenvolvimento intelectual-hipogonadismo | Síndrome Martsolf |
| pl | Zaćma - niepełnosprawność intelektualna - hipogonadyzm | Zespół Martsolfa |
| cs | Syndrom zahrnující kataraktu, mentální retardaci a hypogonadismus | Martsolfův syndrom |
| uk | Синдром катаракти - інтелектуальної недостатності - гіпогонадизму | Синдром Марцольфа |
| zh | 白内障-智力障碍-性腺功能减退综合征 | Martsolf综合征 |
| tr | Katarakt-zihinsel yetersizlik-hipogonadizm sendromu | Martsolf sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212720 | E | validated | |
| OMIM | 619420 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MeSH | C536028 | E | validated | |
| UMLS | C0796037 | E | validated | |
| GARD | 3406 | 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 (5):
- 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:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RAB3GAP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17063 | ENSG00000115839 | 602536 | 2q21.3 | RAB3 GTPase activating protein catalytic subunit 1 | 23420520[PMID] |
| RAB3GAP2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17168 | ENSG00000118873 | 609275 | 1q41 | RAB3 GTPase activating non-catalytic protein subunit 2 | 23420520[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 23420520[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000518 | Cataract | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000221 | Furrowed tongue | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0001249 | Intellectual disability | |
| HP:0002162 | Low posterior hairline | |
| HP:0000272 | Malar flattening | |
| HP:0000252 | Microcephaly | |
| HP:0011800 | Midface retrusion | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0009832 | Abnormal distal phalanx morphology of finger | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000248 | Brachycephaly | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000218 | High palate | |
| HP:0003307 | Hyperlordosis | |
| HP:0000601 | Hypotelorism | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000692 | Tooth malposition | |
| HP:0009465 | Ulnar deviation of finger | |
| Occasional (29-5%) | ||
| HP:0009738 | Abnormality of the antihelix | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002650 | Scoliosis | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1387
- This record as JSON: /data/d/1387.json