ORPHA:2065
Galloway-Mowat syndrome
Synonyms: Galloway syndrome · Microcephaly-hiatus hernia-nephrotic syndrome · Nephrosis-neuronal dysmigration syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Galloway-Mowat syndrome | Galloway syndrome · Microcephaly-hiatus hernia-nephrotic syndrome · Nephrosis-neuronal dysmigration syndrome |
| fr | Syndrome de Galloway-Mowat | Syndrome de Galloway · Syndrome de microcéphalie-syndrome néphrotique-sclérose mésangiale · Syndrome de néphrose-migration neuronale anormale |
| de | Galloway-Mowat-Syndrom | Galloway-Syndrom · Mikrozephalie - Hiatushernie - Nephrotisches Syndrom · Nephrose mit abnormer neuronaler Migration |
| es | Síndrome de Galloway | Síndrome con microcefalia-hernia de hiato-nefrosis · Síndrome de Galloway-Mowat · Síndrome de nefrosis-migración neuronal anómala |
| it | Sindrome di Galloway-Mowat | Microcefalia - ernia iatale - sindrome nefrosica · Sindrome di Galloway-Mowat · Sindrome nefrosi-anomalie della migrazione neuronale |
| nl | Syndroom van Galloway-Mowat | Microcefalie - hiatus hernia - nefrotisch syndroom · Nefrose - neuronale dysmigratie-syndroom · Syndroom van Galloway |
| pt | Síndrome Galloway-Mowat | Síndrome de microcefalia-hérnia do hiato-síndrome nefrótico · Síndrome nefrose-alterações da migração neuronal |
| pl | Zespół Gallowaya i Mowata | Małogłowie - przepuklina rozworu przełykowego - zespół nefrotyczny · Zespół Gallowaya i Mowata · Zespół nerczycowy - zaburzenia migracji neuronalnej |
| cs | Gallowayův-Mowatův syndrom | Syndrom zahrnující mikrocefalii, hiátovou hernii a nefrotický syndrom · Syndrom zahrnující nefrózu a neuronální dysmigraci · Galowayův syndrom · Galloway-Mowatův syndrom |
| uk | Синдром Галлоуея-Мовата | Синдром Галлоуея · Мікроцефалія-грижа стравохідного отвору діафрагми-нефротичний синдром · Синдром нефрозу - нейрональної дисміграції |
| zh | Galloway-Mowat综合征 | 小脑畸形-食管裂孔疝-肾病综合征 |
| tr | Galloway-Mowat sendromu | Galloway sendromu · Nefroz-nöronal dismigrasyon sendromu · Mikrosefali-hiatus herni-nefrotik sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251300 | BTNT | validated | |
| OMIM | 301006 | BTNT | validated | |
| OMIM | 617729 | BTNT | validated | |
| OMIM | 617730 | BTNT | validated | |
| OMIM | 617731 | BTNT | validated | |
| OMIM | 618347 | BTNT | validated | |
| OMIM | 618348 | BTNT | validated | |
| OMIM | 618349 | BTNT | validated | |
| OMIM | 619603 | BTNT | validated | |
| OMIM | 619609 | BTNT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | GB41 | NTBT | index | validated |
| MONDO | 0009627 | E | validated | |
| MeSH | C537548 | E | validated | |
| UMLS | C0795949 | E | validated | |
| GARD | 65 | E | validated | |
| MedDRA | 10088355 | 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 (4):
- ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NUP133 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18016 | ENSG00000069248 | 607613 | 1q42.13 | nucleoporin 133 | 30427554[PMID] |
| WDR73 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25928 | ENSG00000177082 | 616144 | 15q25.2 | WD repeat domain 73 | 25466283[PMID] |
| GON7 | Disease-causing germline mutation(s) in | Assessed | HGNC:20356 | ENSG00000170270 | 617436 | 14q32.12 | GON7 subunit of KEOPS complex | 31481669[PMID] |
| LAGE3 | Disease-causing germline mutation(s) in | Assessed | HGNC:26058 | ENSG00000196976 | 300060 | Xq28 | L antigen family member 3 | 28805828[PMID] |
| NUP107 | Disease-causing germline mutation(s) in | Assessed | HGNC:29914 | ENSG00000111581 | 607617 | 12q15 | nucleoporin 107 | 28280135[PMID] |
| OSGEP | Disease-causing germline mutation(s) in | Assessed | HGNC:18028 | ENSG00000092094 | 610107 | 14q11.2 | O-sialoglycoprotein endopeptidase | 28805828[PMID] |
| TP53RK | Disease-causing germline mutation(s) in | Assessed | HGNC:16197 | ENSG00000172315 | 608679 | 20q13.12 | TP53 regulating kinase | 28805828[PMID] |
| TPRKB | Disease-causing germline mutation(s) in | Assessed | HGNC:24259 | ENSG00000144034 | 608680 | 2p13.1 | TP53RK binding protein | 28805828[PMID] |
| WDR4 | Disease-causing germline mutation(s) in | Assessed | HGNC:12756 | ENSG00000160193 | 605924 | 21q22.3 | WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | 30079490[PMID] |
| YRDC | Disease-causing germline mutation(s) in | Assessed | HGNC:28905 | ENSG00000196449 | 612276 | 1p34.3 | yrdC N6-threonylcarbamoyltransferase domain containing | 31481669[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 159 cases | Worldwide | Case(s) | Validated | 33791874[PMID]_ORPHANET | |
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Worldwide | Value and class | Validated | 34619372[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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0001263 | Global developmental delay | |
| HP:0100720 | Hypoplasia of the ear cartilage | |
| HP:0000252 | Microcephaly | |
| HP:0000112 | Nephropathy | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000093 | Proteinuria | |
| Frequent (79-30%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0002353 | EEG abnormality | |
| HP:0002036 | Hiatus hernia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000400 | Macrotia | |
| HP:0001302 | Pachygyria | |
| HP:0001622 | Premature birth | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001181 | Adducted thumb | |
| HP:0002410 | Aqueductal stenosis | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0000316 | Hypertelorism | |
| HP:0001276 | Hypertonia | |
| HP:0000601 | Hypotelorism | |
| HP:0001252 | Hypotonia | |
| HP:0000347 | Micrognathia | |
Run the differential on the 7 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2065
- This record as JSON: /data/d/2065.json