ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY

General Information (adopted from Orphanet):

Synonyms, Signs: APUG
Number of Symptoms 15
OrphanetNr:
OMIM Id: 614262
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:0000293) Full cheeks 85 / 7739
2
(HPO:0001845) Overlapping toe 18 / 7739
3
(HPO:0012385) Camptodactyly 113 / 7739
4
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
5
(HPO:0002021) Pyloric stenosis 51 / 7739
6
(HPO:0001047) Atopic dermatitis 20 / 7739
7
(HPO:0001631) Atria septal defect 274 / 7739
8
(HPO:0001642) Pulmonic stenosis 89 / 7739
9
(HPO:0001629) Ventricular septal defect 316 / 7739
10
(HPO:0002099) Asthma 62 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Trigger deformity of the fingers 1 / 7739
13
(OMIM) Avascular necrosis of the femoral head 1 / 7739
14
(OMIM) Joint contractures of the hips, knees, hands, and elbows 1 / 7739
15
(OMIM) Upward gaze palsy 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Alkuraya (2011) reported a consanguineous Saudi family in which 2 sisters and a female cousin had a similar disorder characterized by arthrogryposis apparent since early childhood, avascular necrosis of the hip (Perthes disease), and upward gaze palsy. Limited ...