MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGEDAPPEARANCE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 248010
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:0001388) Joint laxity 117 / 7739
2
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
3
 (HPO:0007602) Complex palmar dermatoglyphic pattern 1 / 7739
4
 (HPO:0000939) Osteoporosis 129 / 7739
5
 (HPO:0002757) Recurrent fractures 47 / 7739
6
 (HPO:0004322) Short stature 1232 / 7739
7
 (HPO:0002208) Coarse hair 58 / 7739
8
 (HPO:0007495) Prematurely aged appearance 44 / 7739
9
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
10
 (HPO:0003199) Decreased muscle mass 27 / 7739
11
 (OMIM) Prominent joints 4 / 7739
12
 (OMIM) Dry coarse hair 2 / 7739
13
 (OMIM) Wrinkled palms 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Macroepiphyses 1 / 7739
16
 (OMIM) Aged appearance 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: