ORPHA:564
Meckel syndrome
Synonyms: Dysencephalia splanchnocystica · Meckel-Gruber syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Meckel syndrome | Dysencephalia splanchnocystica · Meckel-Gruber syndrome |
| fr | Syndrome de Meckel | Dysencephalie splanchnocystique · Syndrome de Gruber · Syndrome de Meckel-Gruber |
| de | Meckel-Syndrom | Dysencephalia splanchnocystica · Meckel-Gruber-Syndrom |
| es | Síndrome de Meckel | Disencefalia esplancnoquística · Síndrome de Meckel-Gruber |
| it | Sindrome di Meckel | Disencefalia splancnocistica · Sindrome di Meckel-Gruber |
| nl | Syndroom van Meckel | Dysencephalia splanchnocystica · Syndroom van Meckel-Gruber |
| pt | Síndrome Meckel | Disencefalia esplancnoquística · Síndrome Meckel-Gruber |
| pl | Zespół Meckela | Zespół Meckela i Grubera |
| cs | Meckelův syndrom | Meckelův-Gruberův syndrom · Meckel-Gruberův syndrom |
| uk | Синдром Меккеля | Дисенцефалія спланхноцистична · Синдром Меккеля-Грубера |
| zh | Meckel综合征 | Meckel-Gruber综合征 |
| tr | Meckel sendromu | Meckel-Gruber sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249000 | E | validated | |
| OMIM | 267010 | BTNT | validated | |
| OMIM | 603194 | BTNT | validated | |
| OMIM | 607361 | BTNT | validated | |
| OMIM | 609345 | BTNT | validated | |
| OMIM | 611134 | BTNT | validated | |
| OMIM | 611561 | BTNT | validated | |
| OMIM | 612284 | BTNT | validated | |
| OMIM | 613885 | BTNT | validated | |
| OMIM | 614175 | BTNT | validated | |
| OMIM | 614209 | BTNT | validated | |
| OMIM | 615397 | BTNT | validated | |
| OMIM | 616258 | BTNT | validated | |
| OMIM | 617562 | BTNT | validated | |
| OMIM | 619879 | BTNT | validated | |
| ICD-10 | Q61.9 | NTBT | inclusion | validated |
| ICD-11 | LD2F.13 | E | specific | validated |
| MONDO | 0018921 | E | validated | |
| UMLS | C0265215 | E | validated | |
| GARD | 3436 | 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 (14):
- ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:98655Lens shape anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases - ORPHA:156165Retinal ciliopathy
rare genetic diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:108973Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1396OBSOLETE: Cerebrorenodigital syndrome referred to · inactive
4
Genes
17 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RPGRIP1 | Candidate gene tested in | Not yet assessed | HGNC:13436 | ENSG00000092200 | 605446 | 14q11.2 | RPGR interacting protein 1 | |
| TCTN1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26113 | ENSG00000204852 | 609863 | 12q24.11 | tectonic family member 1 | 28631893[PMID] |
| TCTN3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24519 | ENSG00000119977 | 613847 | 10q24.1 | tectonic family member 3 | 22883145[PMID] |
| TMEM107 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28128 | ENSG00000179029 | 616183 | 17p13.1 | transmembrane protein 107 | 26123494[PMID] |
| TMEM231 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:37234 | ENSG00000205084 | 614949 | 16q23.1 | transmembrane protein 231 | 23349226[PMID] |
| TMEM237 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14432 | ENSG00000155755 | 614423 | 2q33.1 | transmembrane protein 237 | 26729329[PMID] |
| TXNDC15 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20652 | ENSG00000113621 | 617778 | 5q31.1 | thioredoxin domain containing 15 | 27894351[PMID] |
| B9D1 | Disease-causing germline mutation(s) in | Assessed | HGNC:24123 | ENSG00000108641 | 614144 | 17p11.2 | B9 domain containing 1 | 21493627[PMID] |
| B9D2 | Disease-causing germline mutation(s) in | Assessed | HGNC:28636 | ENSG00000123810 | 611951 | 19q13.2 | B9 domain containing 2 | 21763481[PMID] |
| CC2D2A | Disease-causing germline mutation(s) in | Assessed | HGNC:29253 | ENSG00000048342 | 612013 | 4p15.32 | coiled-coil and C2 domain containing 2A | 21110233[PMID]_19466712[PMID] |
| CEP290 | Disease-causing germline mutation(s) in | Assessed | HGNC:29021 | ENSG00000198707 | 610142 | 12q21.32 | centrosomal protein 290 | 21110233[PMID]_19466712[PMID]_17564974[PMID] |
| CSPP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26193 | ENSG00000104218 | 611654 | 8q13.1-q13.2 | centrosome and spindle pole associated protein 1 | |
| MKS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7121 | ENSG00000011143 | 609883 | 17q22 | MKS transition zone complex subunit 1 | 21110233[PMID]_19466712[PMID]_17389183[PMID] |
| RPGRIP1L | Disease-causing germline mutation(s) in | Assessed | HGNC:29168 | ENSG00000103494 | 610937 | 16q12.2 | RPGRIP1 like | 21110233[PMID]_17558409[PMID] |
| TCTN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:25774 | ENSG00000168778 | 613846 | 12q24.31 | tectonic family member 2 | 21462283[PMID] |
| TMEM216 | Disease-causing germline mutation(s) in | Assessed | HGNC:25018 | ENSG00000187049 | 613277 | 11q13.1 | transmembrane protein 216 | 21110233[PMID]_20512146[PMID] |
| TMEM67 | Disease-causing germline mutation(s) in | Assessed | HGNC:28396 | ENSG00000164953 | 609884 | 8q22.1 | transmembrane protein 67 | 21110233[PMID]_19466712[PMID]_17389183[PMID] |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.3 / 100 000 | France | Value and class | Validated | 22925539[PMID] |
| Point prevalence | <1 / 1 000 000 | — | France | Class only | Validated | 22925539[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 11 / 100 000 | Finland | Value and class | Validated | 6486168[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 2.6 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1990-2011[OTHER]_25182137[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
45 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002612 | Congenital hepatic fibrosis | |
| HP:0002084 | Encephalocele | |
| HP:0000252 | Microcephaly | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001162 | Postaxial hand polydactyly | |
| Frequent (79-30%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0008053 | Aplasia/Hypoplasia of the iris | |
| HP:0000518 | Cataract | |
| HP:0000532 | Chorioretinal abnormality | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000293 | Full cheeks | |
| HP:0000316 | Hypertelorism | |
| HP:0006870 | Lobar holoprosencephaly | |
| HP:0000482 | Microcornea | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0001562 | Oligohydramnios | |
| HP:0000648 | Optic atrophy | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000647 | Sclerocornea | |
| HP:0000340 | Sloping forehead | |
| HP:0001883 | Talipes | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001747 | Accessory spleen | |
| HP:0002323 | Anencephaly | |
| HP:0000528 | Anophthalmia | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0010295 | Aplasia/Hypoplasia of the tongue | |
| HP:0001746 | Asplenia | |
| HP:0006487 | Bowing of the long bones | |
| HP:0006706 | Cystic liver disease | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000221 | Furrowed tongue | |
| HP:0000238 | Hydrocephalus | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0001737 | Pancreatic cysts | |
| HP:0100732 | Pancreatic fibrosis | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0001696 | Situs inversus totalis | |
| HP:0010459 | True hermaphroditism | |
| HP:0000073 | Ureteral duplication | |
| HP:0000068 | Urethral atresia | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/564
- This record as JSON: /data/d/564.json