GELEOPHYSIC DYSPLASIA 2

General Information (adopted from Orphanet):

Synonyms, Signs: GPHYSD2
Number of Symptoms 33
OrphanetNr:
OMIM Id: 614185
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000319) Smooth philtrum 72 / 7739
2
 (HPO:0000293) Full cheeks 85 / 7739
3
 (HPO:0003196) Short nose 264 / 7739
4
 (HPO:0000316) Hypertelorism 644 / 7739
5
 (HPO:0000343) Long philtrum 262 / 7739
6
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
7
 (HPO:0001376) Limitation of joint mobility 27 / 7739
8
 (HPO:0001387) Joint stiffness 322 / 7739
9
 (HPO:0001773) Short foot 86 / 7739
10
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
11
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
12
 (HPO:0004279) Short palm 323 / 7739
13
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
14
 (HPO:0002240) Hepatomegaly 467 / 7739
15
 (HPO:0004322) Short stature 1232 / 7739
16
 (HPO:0001072) Thickened skin 87 / 7739
17
 (HPO:0001650) Aortic valve stenosis 49 / 7739
18
 (HPO:0001659) Aortic regurgitation 36 / 7739
19
 (HPO:0010446) Tricuspid stenosis 5 / 7739
20
 (HPO:0001718) Mitral stenosis 10 / 7739
21
 (HPO:0001634) Mitral valve prolapse 69 / 7739
22
 (HPO:0002092) Pulmonary hypertension 109 / 7739
23
 (HPO:0001653) Mitral regurgitation 64 / 7739
24
 (HPO:0002093) Respiratory insufficiency 410 / 7739
25
 (OMIM) Lysosomal-like storage vacuoles in various tissues 1 / 7739
26
 (OMIM) Valvular thickening, progressive 1 / 7739
27
 (OMIM) Shortened nose 1 / 7739
28
 (MedDRA:10068872) Toe walking 2 / 7739
29
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
30
 (OMIM) Short long tubular bones 2 / 7739
31
 (HPO:0040083) Toe walking 15 / 7739
32
 (OMIM) Laryngeal stenosis or insufficiency 1 / 7739
33
 (OMIM) 'Happy' face 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In 19 patients with geleophysic dysplasia who were known to be negative for mutation in the ADAMTSL2 gene (612277), Le Goff et al. (2011) performed exome sequencing followed by candidate gene analysis and identified heterozygosity for 8 different ...