ORPHA:1466
COFS syndrome
Synonyms: Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | COFS syndrome | Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2 |
| fr | Syndrome COFS | Syndrome cérébro-oculo-facio-squelettique · Syndrome de Pena-Shokeir type 2 |
| de | COFS-Syndrom | Pena-Shokeir-Syndrom Typ 2 · Zerebro-okulo-fazio-skelettales Syndrom |
| es | Síndrome COFS | Síndrome cerebro óculo facio esquelético · Síndrome de Pena-Shokeir tipo 2 |
| it | Sindrome COFS | Sindrome cerebro-oculo-facio-scheletrica · Sindrome di Pena-Shokeir, tipo 2 |
| nl | COFS-syndroom | Cerebro-oculofacioskeletaal syndroom · Syndroom van Pena-Shokeir type 2 |
| pt | Síndrome COFS | Síndrome Pena-Shokeir tipo 2 · Síndrome cerebro-óculo-facio-esquelético |
| pl | Zespół COFS | Zespół mózgowo-oczno-twarzowo-szkieletowy · Zespół Pena i Shokeira typu 2 |
| cs | COFS syndrom | Cerebrookulofacioskeletální syndrom · Penův-Shokeirův syndrom, typ 2 · Pena-Shokeirův syndrom, typ 2 |
| uk | Синдром COFS | Цереброокулофаціально-скелетний синдром · Синдром Пена-Шокіра, тип 2 |
| zh | COFS综合征 | 脑眼面骨综合征 |
| tr | COFS sendromu | Pena-Shokeir sendromu tip 2 · Serebrookülofasiyoskeletal sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 214150 | BTNT | validated | |
| OMIM | 278780 | BTNT | validated | |
| OMIM | 610756 | BTNT | validated | |
| OMIM | 610758 | BTNT | validated | |
| OMIM | 616570 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0008926 | E | validated | |
| UMLS | C5399761 | E | validated | |
| GARD | 6027 | 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 (3):
- ORPHA:191Cockayne syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare skin diseases; rare ophthalmic disorders; rare otorhinolaryngological diseases; rare neoplastic diseases - ORPHA:98649Dentocutaneous disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1317CAMFAK syndrome moved to · inactive
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERCC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3433 | ENSG00000012061 | 126380 | 19q13.32 | ERCC excision repair 1, endonuclease non-catalytic subunit | 17273966[PMID] |
| ERCC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3434 | ENSG00000104884 | 126340 | 19q13.32 | ERCC excision repair 2, TFIIH core complex helicase subunit | 11443545[PMID] |
| ERCC5 | Disease-causing germline mutation(s) in | Assessed | HGNC:3437 | ENSG00000134899 | 133530 | 13q33.1 | ERCC excision repair 5, endonuclease | 24700531[PMID] |
| ERCC6 | Disease-causing germline mutation(s) in | Assessed | HGNC:3438 | ENSG00000225830 | 609413 | 10q11.23 | ERCC excision repair 6, chromatin remodeling factor | 20301516[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 | ORPHANET | |
| 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
33 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005105 | Abnormal nasal morphology | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000518 | Cataract | |
| HP:0002514 | Cerebral calcification | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001522 | Death in infancy | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001276 | Hypertonia | |
| HP:0001252 | Hypotonia | |
| HP:0001387 | Joint stiffness | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004322 | Short stature | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0000135 | Hypogonadism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000470 | Short neck | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000648 | Optic atrophy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001883 | Talipes | |
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/1466
- This record as JSON: /data/d/1466.json