ORPHA:899
Walker-Warburg syndrome
Synonyms: HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome · WWS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare form of congenital muscular dystrophy (CMD) associated with severe brain and eye abnormalities. It is the most severe form of CMD.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Walker-Warburg syndrome | HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome · WWS |
| fr | Syndrome de Walker-Warburg | Syndrome HARD · Syndrome d'hydrocéphalie-agyrie-dysplasie rétinienne · WWS |
| de | Walker-Warburg-Syndrom | HARD-Syndrom · Hydrozephalus-Agyrie-Retinadysplasie-Syndrom |
| es | Síndrome de Walker-Warburg | Hidrocefalia-agiria-displasia retiniana · Síndrome HARD · Síndrome de hidrocefalia-agiria-displasia retiniana · WWS |
| it | Sindrome di Walker-Warburg | Idrocefalo - agiria - displasia retinica · Sindrome HARD · Sindrome idrocefalo-agiria-displasia retinica · WWS |
| nl | Syndroom van Walker-Warburg | HARD-syndroom · Hydrocefalus - agyrie - retinadysplasie-syndroom · Hydrocefalus - agyrie - retinale dysplasie-syndroom · WWS |
| pt | Síndrome Walker-Warburg | Síndrome HARD · Síndrome de hidrocefalia-agiria-displasia da retina · WWS |
| pl | Zespół Walkera i Warburga | Wodogłowie - agyria - dysplazja rogówki · WWS · Zespół HARD · Zespół wodogłowie-agyria-dysplazja rogówki |
| cs | Walkerův-Warburgův syndrom | HARD syndrom · Syndrom zahrnující hydrocefalus, agyrii a retinální dysplázii · WWS · Walker-Warburgův syndrom |
| uk | Синдром Уокера-Варбурга | Синдром HARD · Синдром гідроцефалії-агірії-дисплазії сітківки · WWS |
| zh | 沃克-沃伯格综合征 | 脑积水-无脑回畸形-视网膜发育不良综合征 |
| tr | Walker-Warburg sendromu | WWS · HARD sendromu · Hidrosefali-agyria-retina displazi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236670 | NTBT | validated | |
| OMIM | 253280 | BTNT | validated | |
| OMIM | 253800 | BTNT | validated | |
| OMIM | 613150 | BTNT | validated | |
| OMIM | 613153 | BTNT | validated | |
| OMIM | 613154 | BTNT | validated | |
| OMIM | 614643 | BTNT | validated | |
| OMIM | 614830 | BTNT | validated | |
| OMIM | 615041 | BTNT | validated | |
| OMIM | 615181 | BTNT | validated | |
| OMIM | 615249 | BTNT | validated | |
| OMIM | 615287 | BTNT | validated | |
| OMIM | 616538 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 0000171 | E | validated | |
| MeSH | D058494 | E | validated | |
| UMLS | C0265221 | E | validated | |
| GARD | 2599 | 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 (10):
- ORPHA:371235Congenital disorder of glycosylation with developmental anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:352687Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:309469Disorder of O-mannosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:207119Qualitative or quantitative defects of FKRP
rare genetic diseases - ORPHA:207122Qualitative or quantitative defects of fukutin
rare genetic diseases - ORPHA:209024Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
rare genetic diseases - ORPHA:209030Qualitative or quantitative defects of protein O-mannosyltransferase 1
rare genetic diseases - ORPHA:209033Qualitative or quantitative defects of protein O-mannosyltransferase 2
rare genetic diseases - ORPHA:716446Rare disorder with progressive vitreoretinopathy disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
14 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL4A1 | Candidate gene tested in | Not yet assessed | HGNC:2202 | ENSG00000187498 | 120130 | 13q34 | collagen type IV alpha 1 chain | 21625620[PMID] |
| B3GALNT2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28596 | ENSG00000162885 | 610194 | 1q42.3 | beta-1,3-N-acetylgalactosaminyltransferase 2 | 23453667[PMID] |
| B4GAT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15685 | ENSG00000174684 | 605517 | 11q13.2 | beta-1,4-glucuronyltransferase 1 | 23359570[PMID] |
| CRPPA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:37276 | ENSG00000214960 | 614631 | 7p21.2 | CDP-L-ribitol pyrophosphorylase A | 22522420[PMID] |
| DAG1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2666 | ENSG00000173402 | 128239 | 3p21.31 | dystroglycan 1 | 25934851[PMID] |
| FKRP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17997 | ENSG00000181027 | 606596 | 19q13.32 | fukutin related protein | 20236121[PMID] |
| FKTN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3622 | ENSG00000106692 | 607440 | 9q31.2 | fukutin | 18177472[PMID]_17878207[PMID] |
| POMGNT2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25902 | ENSG00000144647 | 614828 | 3p22.1 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | 22958903[PMID] |
| POMK | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26267 | ENSG00000185900 | 615247 | 8p11.21 | protein O-mannose kinase | 23519211[PMID] |
| POMT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9202 | ENSG00000130714 | 607423 | 9q34.13 | protein O-mannosyltransferase 1 | 19880378[PMID] |
| POMT2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19743 | ENSG00000009830 | 607439 | 14q24.3 | protein O-mannosyltransferase 2 | 19880378[PMID] |
| RXYLT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13530 | ENSG00000118600 | 605862 | 12q14.2 | ribitol xylosyltransferase 1 | 23217329[PMID]_23519211[PMID] |
| LARGE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6511 | ENSG00000133424 | 603590 | 22q12.3 | LARGE xylosyl- and glucuronyltransferase 1 | 21727005[PMID]_19299310[PMID] |
| POMGNT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19139 | ENSG00000085998 | 606822 | 1p34.1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 19299310[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.03 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.65 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.2 / 100 000 | Italy | Value and class | Validated | 8786062[PMID] |
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
51 annotations · validated 2017-06-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012400 | Abnormal aldolase level | |
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0002536 | Abnormal cortical gyration | |
| HP:0045040 | Abnormal lactate dehydrogenase activity | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0002334 | Abnormality of the cerebellar vermis | |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature | |
| HP:0001284 | Areflexia | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0007731 | Chorioretinal dysplasia | |
| HP:0001263 | Global developmental delay | |
| HP:0000238 | Hydrocephalus | |
| HP:0001265 | Hyporeflexia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001339 | Lissencephaly | |
| HP:0010508 | Metatarsus valgus | |
| HP:0001324 | Muscle weakness | |
| HP:0003560 | Muscular dystrophy | |
| HP:0000648 | Optic atrophy | |
| HP:0001302 | Pachygyria | |
| HP:0001302 | Pachygyria | |
| HP:0002126 | Polymicrogyria | |
| HP:0000541 | Retinal detachment | |
| HP:0007973 | Retinal dysplasia | |
| HP:0000556 | Retinal dystrophy | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001328 | Specific learning disability | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000528 | Anophthalmia | |
| HP:0007957 | Corneal opacity | |
| HP:0000028 | Cryptorchidism | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000501 | Glaucoma | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000256 | Macrocephaly | |
| HP:0000568 | Microphthalmia | |
| Occasional (29-5%) | ||
| HP:0000193 | Bifid uvula | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0000612 | Iris coloboma | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000411 | Protruding ear | |
| HP:0001250 | Seizure | |
| HP:0000176 | Submucous cleft hard palate | |
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/899
- This record as JSON: /data/d/899.json