ORPHA:2697
Arthrogryposis-renal dysfunction-cholestasis syndrome
Synonyms: ARC syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arthrogryposis-renal dysfunction-cholestasis syndrome | ARC syndrome |
| fr | Syndrome d'arthrogrypose-insuffisance rénale-cholestase | Syndrome ARC |
| de | Arthrogrypose-Nierenfunktionsstörung-Cholestase-Syndrom | ARC-Syndrom |
| es | Síndrome de artrogriposis-disfunción renal-colestasis | Síndrome ARC |
| it | Artrogriposi - disfunzione renale - colestasi | Sindrome ARC |
| nl | Artrogrypose - nierfunctiestoornis - cholestase-syndroom | ARC-syndroom |
| pt | Síndrome de artrogripose-disfunção renal-colestase | Síndrome ARC |
| pl | Artrogrypoza - dysfunkcja nerek - cholestaza | Zespół ARC |
| cs | Syndrom zahrnující artrogrypózu, renální dysfunkci a cholestázu | ARC syndrom |
| uk | Синдром артрогрипозу- ниркової дисфункції - холестазу | Синдром ARC |
| zh | 关节挛缩-肾功能不全-胆汁淤积综合征 | ARC 综合征 |
| tr | Artrogripozisi-böbrek fonksiyon bozukluğu-kolestaz sendromu | ARC sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208085 | BTNT | validated | |
| OMIM | 613404 | BTNT | validated | |
| ICD-10 | Q89.7 | NTBT | attributed | validated |
| ICD-11 | 5C58.0Y | NTBT | index | validated |
| MONDO | 0017123 | E | validated | |
| MeSH | C535382 | E | validated | |
| UMLS | C4551984 | E | validated | |
| GARD | 794 | 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:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:281241Autosomal ichthyosis syndrome with fatal disease course
rare genetic diseases; rare skin diseases - ORPHA:309816Disorder of bilirubin metabolism and excretion
rare inborn errors of metabolism; rare genetic diseases - ORPHA:156607Genetic biliary tract disease
rare genetic diseases - ORPHA:101941Rare biliary tract disease
rare hepatic 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:1981Fanconi syndrome-ichthyosis-dysmorphism syndrome moved to · inactive
- ORPHA:3438Biliary tract malformation-renal failure syndrome moved to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VIPAS39 | Disease-causing germline mutation(s) in | Assessed | HGNC:20347 | ENSG00000151445 | 613401 | 14q24.3 | VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | 25239142[PMID] |
| VPS33B | Disease-causing germline mutation(s) in | Assessed | HGNC:12712 | ENSG00000184056 | 608552 | 15q26.1 | VPS33B late endosome and lysosome associated | 25239142[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 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
32 annotations · validated 2025-03-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0001531 | Failure to thrive in infancy | |
| Frequent (79-30%) | ||
| HP:0012483 | Abnormal alpha granules | |
| HP:0030402 | Abnormal platelet aggregation | |
| HP:0011873 | Abnormal platelet count | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002028 | Chronic diarrhea | |
| HP:0008780 | Congenital bilateral hip dislocation | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0002240 | Hepatomegaly | |
| HP:0000962 | Hyperkeratosis | |
| HP:0008064 | Ichthyosis | |
| HP:0001249 | Intellectual disability | |
| HP:0006566 | Neonatal cholestatic liver disease | |
| HP:0002719 | Recurrent infections | |
| HP:0001994 | Renal Fanconi syndrome | |
| HP:0000124 | Renal tubular dysfunction | |
| Occasional (29-5%) | ||
| HP:0000973 | Cutis laxa | |
| HP:0001558 | Decreased fetal movement | |
| HP:0000365 | Hearing impairment | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0005248 | Intrahepatic biliary atresia | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0009806 | Nephrogenic diabetes insipidus | |
| HP:0001562 | Oligohydramnios | |
| HP:0000938 | Osteopenia | |
| HP:0002756 | Pathologic fracture | |
| HP:0003202 | Skeletal muscle atrophy | |
| Excluded (0%) | ||
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 39736737[PMID]_26914089[PMID]_25239142[PMID]_20224444[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2697
- This record as JSON: /data/d/2697.json