Chondrodysplasia with joint dislocations, gPAPP type

General Information (adopted from Orphanet):

Synonyms, Signs: gpapp deficiency
Number of Symptoms 34
OrphanetNr: 280586
OMIM Id: 614078
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with multiple joint dislocations
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000347) Micrognathia 426 / 7739
2
 (HPO:0000520) Proptosis 192 / 7739
3
 (HPO:0003196) Short nose 264 / 7739
4
 (HPO:0000431) Wide nasal bridge 290 / 7739
5
 (HPO:0000160) Narrow mouth 188 / 7739
6
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
7
 (HPO:0000348) High forehead 157 / 7739
8
 (HPO:0012368) Flat face 106 / 7739
9
 (HPO:0000365) Hearing impairment 539 / 7739
10
 (HPO:0001773) Short foot 86 / 7739
11
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
12
 (HPO:0001831) Short toe 52 / 7739
13
 (HPO:0002999) Patellar dislocation 46 / 7739
14
 (HPO:0002857) Genu valgum 144 / 7739
15
 (HPO:0010049) Short metacarpal 99 / 7739
16
 (HPO:0004322) Short stature 1232 / 7739
17
 (OMIM) Subluxation of the radial heads 3 / 7739
18
 (OMIM) Dysplasia of the hip acetabulum 1 / 7739
19
 (OMIM) Lateral deviation of the fifth toe 1 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (OMIM) Fusion of the capitate and hamate bones 1 / 7739
22
 (OMIM) Shortening and deformity of the limbs 1 / 7739
23
 (MedDRA:10072883) Brachydactyly 153 / 7739
24
 (OMIM) Limited supination of the elbow 1 / 7739
25
 (OMIM) Reduction of the intervertebral spaces 1 / 7739
26
 (OMIM) Prenatal growth delay 1 / 7739
27
 (OMIM) Dysplasia of the proximal femoral epiphyses 1 / 7739
28
 (OMIM) Adducted feet 1 / 7739
29
 (OMIM) Irregular size of the metacarpal epiphyses 1 / 7739
30
 (OMIM) Posterior cleft palate 2 / 7739
31
 (OMIM) Hitch-hiker appearance of the thumb 1 / 7739
32
 (OMIM) Splitting of the first metacarpal in two parts 1 / 7739
33
 (OMIM) Supernumerary carpal ossification centers 1 / 7739
34
 (OMIM) Longitudinal splitting of the proximal phalanx of forefinger 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Vissers et al. (2011) reported 4 individuals with a distinct condition characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, micrognathia, cleft palate, and facial dysmorphism. Three patients, a German girl and Turkish sisters, were from consanguineous ...
Molecular genetics OMIM In 4 individuals from 3 unrelated families with the GPAPP form of chondrodysplasia with joint contractures, Vissers et al. (2011) identified homozygous mutations in the IMPAD1 gene (614010.0001-614010.0003). The mutations were found in heterozygous state in the parents ...