ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2

General Information (adopted from Orphanet):

Synonyms, Signs: ARCS2
Number of Symptoms 40
OrphanetNr:
OMIM Id: 613404
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000112) Nephropathy 92 / 7739
2
 (HPO:0001947) Renal tubular acidosis 21 / 7739
3
 (HPO:0000121) Nephrocalcinosis 57 / 7739
4
 (HPO:0000252) Microcephaly 832 / 7739
5
 (HPO:0000340) Sloping forehead 86 / 7739
6
 (HPO:0000369) Low-set ears 372 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0009806) Nephrogenic diabetes insipidus rare [HPO:skoehler] 8 / 7739
9
 (HPO:0001385) Hip dysplasia 242 / 7739
10
 (HPO:0001884) Talipes calcaneovalgus 14 / 7739
11
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
12
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
13
 (HPO:0200084) Giant cell hepatitis 8 / 7739
14
 (HPO:0002611) Cholestatic liver disease 19 / 7739
15
 (HPO:0000952) Jaundice 105 / 7739
16
 (HPO:0001508) Failure to thrive 454 / 7739
17
 (HPO:0008064) Ichthyosis 108 / 7739
18
 (HPO:0001631) Atria septal defect 274 / 7739
19
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
20
 (HPO:0001667) Right ventricular hypertrophy 23 / 7739
21
 (HPO:0001629) Ventricular septal defect 316 / 7739
22
 (HPO:0002908) Conjugated hyperbilirubinemia 21 / 7739
23
 (HPO:0001942) Metabolic acidosis 81 / 7739
24
 (HPO:0010547) Muscle flaccidity 466 / 7739
25
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
26
 (HPO:0001324) Muscle weakness 859 / 7739
27
 (HPO:0001252) Muscular hypotonia 990 / 7739
28
 (OMIM) Recurrent febrile illnesses 2 / 7739
29
 (MedDRA:10016219) Fanconi syndrome 3 / 7739
30
 (OMIM) Pigmentary deposits 2 / 7739
31
 (HPO:0001339) Lissencephaly rare [HPO:skoehler] 30 / 7739
32
 (OMIM) Fractures at birth 3 / 7739
33
 (OMIM) Portal tract fibrosis 2 / 7739
34
 (OMIM) B and T cell defects (reported in 2 sibs) 2 / 7739
35
 (OMIM) Bile duct abnormalities (paucity, proliferation) 2 / 7739
36
 (OMIM) Severe bleeding after biopsies (uncommon) 2 / 7739
37
 (OMIM) Persistent foramen ovale 3 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
39
 (OMIM) Structural cardiac defects (uncommon) 2 / 7739
40
 (OMIM) Renal tubular degeneration 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In 3 probands with arthrogryposis, renal dysfunction, and cholestasis (ARCS2) mapping to the VIPAR locus on chromosome 14q24.3 and in 4 additional probands who did not have mutations in the known ARCS1 gene, VPS33B (608552), Cullinane et al. ...