ORPHA:3032
NPHP3-related Meckel-like syndrome
Synonyms: Goldston syndrome · Meckel syndrome type 7 · Meckel-like syndrome type 1 · Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NPHP3-related Meckel-like syndrome | Goldston syndrome · Meckel syndrome type 7 · Meckel-like syndrome type 1 · Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome |
| fr | Syndrome Meckel-like associé à NPHP3 | Syndrome Meckel-like type 1 · Syndrome de Goldston · Syndrome de Meckel type 7 · Syndrome de dysplasie réno-hépato-pancréatique-kystes de Dandy-Walker |
| de | Meckel-ähnliches Syndrom, NPHP3-assoziiertes | Goldston-Syndrom · Meckel-Syndrom Typ 7 · Meckel-ähnliches-Syndrom Typ 1 · Nieren-Leber-Pankreas-Dysplasie mit Dandy-Walker Zysten |
| es | Síndrome similar a Meckel asociado a NPHP3 | Displasia renal-hepática-pancreática-quistes de Dandy-Walker · Síndrome de Goldston · Síndrome de Meckel tipo 7 · Síndrome de Meckel-like asociado a NPHP3 · Síndrome similar a Meckel, tipo 1 |
| it | Sindrome Meckel-simile legata a NPHP3 | Displasia renale-epatico-pancreatica - cisti di Dandy-Walker · Sindrome Meckel-simile, tipo 1 · Sindrome di Goldston · Sindrome di Meckel, tipo 7 |
| nl | NPHP3-gerelateerd Meckel-achtig syndroom | Meckel-achtig syndroom type 1 · Renale-hepatische-pancreatische dysplasie - Dandy-Walker cysten-syndroom · Syndroom van Goldston · Syndroom van Meckel type 7 |
| pt | Síndrome Meckel-like NPHP3-relacionado | Síndrome Meckel-like tipo 1 · Síndrome de displasia nefro-hepato-pancreática-quistos Dandy-Walker · Síndrome Goldston · Síndrome Meckel tipo 7 |
| pl | Zespół podobny do zespołu Meckela zwiazany z NPHP3 | Dysplazja nerkowo-wątrobowo-trzustkowa - torbiele Dandy'ego i Walkera · Zespół Goldstona · Zespół Meckela typu 7 · Zespół podobny do zespołu Meckela typu 1 |
| cs | NPHP3-vázaný syndrom podobný Meckelovu | Syndrom podobný Meckelovu syndromu, typ 1 · Syndrom zahrnující renální-jaterní-pankreatickou dysplázii a Dandyho-Walkerovy cysty · Goldstonův syndrom · Meckelův syndrom, typ 7 · Syndrom zahrnující renální-jaterní-pankreatickou dysplázii a Dandy-Walkerovy cysty |
| uk | NPHP3-асоційований Меккель-подібний синдром | Синдром Голдстона · Синдром Меккеля, тип 7 · Меккелоподібний синдром, тип 1 · Синдром нирково-печінково-підшлункова дисплазія - кіст Денді-Уокера |
| zh | NPHP3相关性梅克尔样综合征 | 肾-肝-胰腺发育不良- Dandy-Walker囊肿综合征 |
| tr | NPHP3 -ilişkili Meckel benzeri sendrom | Goldston sendromu · Meckel sendromu tip 7 · Meckel-benzeri sendrom tip 1 · Böbrek-hepatik-pankreas displazisi-Dandy-Walker kist sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 267010 | E | validated | |
| ICD-10 | Q61.9 | NTBT | attributed | validated |
| ICD-11 | LD2F.13 | NTBT | attributed | validated |
| MONDO | 0009966 | E | validated | |
| UMLS | C2673885 | E | validated | |
| GARD | 4665 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:269570Genetic syndrome with a Dandy-Walker malformation as a major feature
rare genetic diseases - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases - ORPHA:156180Retinal ciliopathy due to mutation in nephronophthisis gene
rare genetic diseases - ORPHA:269546Syndrome with a Dandy-Walker malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NPHP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7907 | ENSG00000113971 | 608002 | 3q22.1 | nephrocystin 3 | 18371931[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
10 annotations · validated 2017-11-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000110 | Renal dysplasia | |
| Frequent (79-30%) | ||
| HP:0012440 | Abnormal biliary tract morphology | |
| HP:0030146 | Abnormal liver parenchyma morphology | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0002566 | Intestinal malrotation | |
| HP:0001562 | Oligohydramnios | |
| HP:0001561 | Polyhydramnios | |
| HP:0002089 | Pulmonary hypoplasia | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3032
- This record as JSON: /data/d/3032.json