ORPHA:1571
Knobloch syndrome
Synonyms: Knobloch-Layer syndrome · Retinal detachment-occipital encephalocele syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Knobloch syndrome | Knobloch-Layer syndrome · Retinal detachment-occipital encephalocele syndrome |
| fr | Syndrome de Knobloch | Syndrome de Knobloch-Layer · Syndrome de décollement de la rétine-encéphalocèle occipitale |
| de | Knobloch-Syndrom | Knobloch-Layer-Syndrom · Netzhautablösung - okzipitale Enzephalozele |
| es | Síndrome de Knobloch | Desprendimiento de retina encefalocele occipital |
| it | Sindrome di Knobloch | Distacco della retina - encefalocele occipitale · Sindrome di Knobloch-Layer |
| nl | Syndroom van Knobloch | Netvliesloslating - occipitale encefalocele-syndroom · Syndroom van Knobloch-Layer |
| pt | Síndrome Knobloch | Descolamento da retina-encefalocelo occipital |
| pl | Zespół Knoblocha | Odwarstwienie siatkówki - encefalocele potyliczne · Zespół Knoblocha i Layera |
| cs | Knoblochův syndrom | Syndrom zahrnující odchlípení sítnice a okcipitální encefalokélu · Knoblochův-Layerův syndrom · Knobloch-Layerův syndrom |
| uk | Синдром Кноблоха | Синдром Кноблоха-Лайєра · Синдром відшарування сітківки та потиличного енцефалоцеле |
| zh | Knobloch综合征 | 视网膜脱离-枕部脑膨出综合征 |
| tr | Knobloch sendromu | Knobloch-Layer sendromu · Retina dekolmanı-oksipital ensefalosel sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 267750 | BTNT | validated | |
| OMIM | 618458 | BTNT | validated | |
| ICD-10 | Q15.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 800167 | E | validated | |
| MeSH | C537209 | E | validated | |
| UMLS | C1849409 | E | validated | |
| GARD | 380 | 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 (3):
- ORPHA:716427Rare disorder with progressive predominantly macular disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:716446Rare disorder with progressive vitreoretinopathy disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAK2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8591 | ENSG00000180370 | 605022 | 3q29 | p21 (RAC1) activated kinase 2 | 33693784[PMID] |
| COL18A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2195 | ENSG00000182871 | 120328 | 21q22.3 | collagen type XVIII alpha 1 chain | 21862674[PMID]_15714516[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 119 cases | Worldwide | Case(s) | Validated | 35693012[PMID]_36684549[PMID]_ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 35693012[PMID]_36684549[PMID]_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.
6
HPO phenotypes
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000608 | Macular degeneration | |
| HP:0000545 | Myopia | |
| HP:0002085 | Occipital encephalocele | |
| HP:0000541 | Retinal detachment | |
| HP:0001362 | Skull defect | |
| Frequent (79-30%) | ||
| HP:0004327 | Abnormal vitreous humor morphology | |
| HP:0000238 | Hydrocephalus | |
| HP:0000639 | Nystagmus | |
| HP:0000529 | Progressive visual loss | |
| HP:0000572 | Visual loss | |
| HP:0007773 | Vitreoretinopathy | |
| Occasional (29-5%) | ||
| HP:0001595 | Abnormality of the hair | |
| HP:0030037 | Bifid ureter | |
| HP:0000518 | Cataract | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001651 | Dextrocardia | |
| HP:0001083 | Ectopia lentis | |
| HP:0000286 | Epicanthus | |
| HP:0001382 | Joint hypermobility | |
| HP:0100764 | Lymphangioma | |
| HP:0011800 | Midface retrusion | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002021 | Pyloric stenosis | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 5 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1571
- This record as JSON: /data/d/1571.json