Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Synonyms: Cerebrorenal syndrome, Perez type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | Cerebrorenal syndrome, Perez type |
| fr | Syndrome de régression psychomotrice-apraxie oculomotrice-anomalie du mouvement-néphropathie | Syndrome cérébrorénale, type Perez |
| de | Psychomotorische Regression-okulomotorische Apraxie-Bewegungsstörung-Nephropathie-Syndrom | Zerebro-renales Syndrom Typ Perez |
| es | Síndrome de regresión psicomotor-apraxia oculomotora-trastornos del movimiento-nefropatía | Síndrome cerebrorrenal tipo Perez |
| it | Sindrome regressione psicomotoria - aprassia oculomotoria - disturbo del movimento - nefropatia | |
| nl | Psychomotorische regressie - oculomotorische apraxie - bewegingsstoornis - nefropathie-syndroom | Cerebro-renaal syndroom, Perez-type |
| pt | Síndrome de regressão psicomotora-apraxia oculomotora-doença do movimento-nefropatia | |
| pl | Zespół regresji psychomotorycznej, apraksji okoruchowej, zaburzenia ruchu i nefropatii | Zespół mózgowo-nerkowy, typ Pereza |
| cs | Syndrom zahrnující psychomotorický regres, okulomotorickou apraxii, poruchu pohybu a nefropatii | Cerebrorenální syndrom, Perezův typ |
| uk | Синдром психомоторної регресії-окуломоторної апраксії-рухових розладів-нефропатії | Цереброренальний синдром, тип Переса |
| zh | 精神运动性退行-眼球运动失用-运动障碍-肾病综合征 | Perez型脑肾综合征 |
| tr | Psikomotor regresyon-okülomotor apraksi-hareket bozukluğu-nefropati sendromu | Cerebro Renal sendromu, Perez tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617595 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 5C64.2Y | NTBT | attributed | validated |
| MONDO | 44726 | E | validated | |
| UMLS | C5568771 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:309845Disorder of zinc metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:98688Oculomotor apraxia
rare genetic diseases; rare ophthalmic disorders - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC30A9 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1329 | ENSG00000014824 | 604604 | 4p13 | solute carrier family 30 member 9 | 28334855[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 28334855[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28334855[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/505242
- This record as JSON: /data/d/505242.json