ORPHA:377
Gorlin syndrome
Synonyms: Basal cell nevus syndrome · Gorlin-Goltz syndrome · NBCCS · Nevoid basal cell carcinoma syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gorlin syndrome | Basal cell nevus syndrome · Gorlin-Goltz syndrome · NBCCS · Nevoid basal cell carcinoma syndrome |
| fr | Syndrome de Gorlin | NBCCS · Naevomatose basocellulaire · Syndrome de Gorlin-Goltz |
| de | Gorlin-Syndrom | Basalzell-Naevus-Syndrom · Gorlin-Goltz-Syndrom · NBCCS · Naevoides Basalzellkarzinom-Syndrom |
| es | Síndrome de Gorlin | NBCCS · Síndrome de Gorlin-Goltz · Síndrome de carcinoma nevoide de células basales · Síndrome de nevo de células basales · Síndrome del carcinoma nevoide de células basales · Síndrome del nevo de células basales |
| it | Sindrome di Gorlin | NBCCS · Sindrome da carcinoma nevoide delle cellule basali · Sindrome del nevo basocellulare · Sindrome di Gorlin-Goltz |
| nl | Syndroom van Gorlin | Basaalcelnaevus-syndroom · NBCCS · Nevoïd basaalcelcarcinoom-syndroom · Syndroom van Gorlin-Goltz |
| pt | Síndrome Gorlin | Carcinoma das células basais nevóides |
| pl | Zespół Gorlina | NBCCS · Zespół Gorlina i Goltza · Zespół nabłoniaków znamionowych · Zespół znamion podstawnokomórkowych |
| cs | Gorlinův syndrom | NBCCS · Syndrom névoidních bazaliomů · Syndrom Gorlinův-Goltzův · Syndrom Gorlin-Goltzův |
| uk | Синдром Горліна | Синдром базальноклітинного невусу · Синдром Горліна-Гольца · NBCCS · Синдром невульгарної базальноклітинної карциноми |
| zh | Gorlin综合征 | 痣样基底细胞癌综合征 |
| tr | Gorlin sendromu | NBCCS · Gorlin-Goltz sendromu · Bazal hücreli nevüs sendromu · Nevoid bazal hücreli karsinom sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 109400 | BTNT | validated | |
| OMIM | 620343 | BTNT | validated | |
| ICD-10 | C44.9 | NTBT | attributed | validated |
| ICD-11 | LD2D.4 | E | specific | validated |
| MONDO | 0007187 | E | validated | |
| MeSH | D001478 | E | validated | |
| UMLS | C0004779 | E | validated | |
| GARD | 7166 | E | validated | |
| MedDRA | 10062804 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:252190Inherited nervous system cancer-predisposing syndrome
rare neurological diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2081Cerebral gigantism-jaw cysts syndrome moved to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTCH1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9585 | ENSG00000185920 | 601309 | 9q22.32 | patched 1 | 20301330[PMID]_19032739[PMID] |
| SUFU | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16466 | ENSG00000107882 | 607035 | 10q24.32 | SUFU negative regulator of hedgehog signaling | 25403219[PMID]_19533801[PMID]_22829011[PMID] |
| PTCH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9586 | ENSG00000117425 | 603673 | 1p34.1 | patched 2 | 18285427[PMID]_23479190[PMID] |
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Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.3 / 100 000 | United Kingdom | Value and class | Validated | 20082463[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.2 / 100 000 | United Kingdom | Value and class | Validated | 20082463[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.39 / 100 000 | Italy | Value and class | Validated | 10066029[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.61 / 100 000 | Australia | Value and class | Validated | 8042673[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.007 / 100 000 | Korea, Republic of | Value and class | Validated | 15183409[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.1 / 100 000 | Worldwide | Value and class | Validated | 24403894[PMID]_[EXPERT] |
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
45 annotations · validated 2023-10-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0000995 | Melanocytic nevus | |
| HP:0002664 | Neoplasm | |
| HP:0010610 | Palmar pits | Diagnostic criterion |
| HP:0010612 | Plantar pits | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | Diagnostic criterion |
| HP:0000464 | Abnormality of the neck | |
| HP:0000907 | Anterior rib cupping | Diagnostic criterion |
| HP:0002671 | Basal cell carcinoma | Diagnostic criterion |
| HP:0000892 | Bifid ribs | Diagnostic criterion |
| HP:0001156 | Brachydactyly | |
| HP:0005462 | Calcification of falx cerebri | Diagnostic criterion |
| HP:0000256 | Macrocephaly | Diagnostic criterion |
| HP:0010603 | Odontogenic keratocysts of the jaw | Diagnostic criterion |
| HP:0000902 | Rib fusion | Diagnostic criterion |
| HP:0002650 | Scoliosis | |
| HP:0002948 | Vertebral fusion | |
| HP:0008422 | Vertebral wedging | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0003468 | Abnormal vertebral morphology | Diagnostic criterion |
| HP:0004408 | Abnormality of the sense of smell | |
| HP:0001166 | Arachnodactyly | |
| HP:0000248 | Brachycephaly | |
| HP:0005449 | Bridged sella turcica | |
| HP:0000670 | Carious teeth | |
| HP:0000518 | Cataract | Diagnostic criterion |
| HP:0000280 | Coarse facial features | Diagnostic criterion |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0002007 | Frontal bossing | |
| HP:0000501 | Glaucoma | |
| HP:0002937 | Hemivertebrae | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0001249 | Intellectual disability | |
| HP:0000612 | Iris coloboma | Diagnostic criterion |
| HP:0000303 | Mandibular prognathia | |
| HP:0002858 | Meningioma | |
| HP:0000202 | Orofacial cleft | Diagnostic criterion |
| HP:0010618 | Ovarian fibroma | Diagnostic criterion |
| HP:0000486 | Strabismus | Diagnostic criterion |
| HP:0000506 | Telecanthus | |
| Very rare (<4-1%) | ||
| HP:0010617 | Cardiac fibroma | Diagnostic criterion |
| HP:0002885 | Medulloblastoma | Diagnostic criterion |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 25131638[PMID]_29373110[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/377
- This record as JSON: /data/d/377.json