EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1

General Information (adopted from Orphanet):

Synonyms, Signs: GALACTOSYLTRANSFERASE I DEFICIENCY
XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY
PDS, DEFECTIVE BIOSYNTHESIS OF
DERMATAN SULFATE PROTEOGLYCAN
XGPT DEFICIENCY
PROTEODERMATAN SULFATE, DEFECTIVE BIOSYNTHESIS OF
EDSP1
Number of Symptoms 30
OrphanetNr:
OMIM Id: 130070
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:0000431) Wide nasal bridge 290 / 7739
2
 (HPO:0000256) Macrocephaly 298 / 7739
3
 (HPO:0000520) Proptosis 192 / 7739
4
 (HPO:0000193) Bifid uvula 66 / 7739
5
 (HPO:0000274) Small face 18 / 7739
6
 (HPO:0002209) Sparse scalp hair 59 / 7739
7
 (HPO:0000160) Narrow mouth 188 / 7739
8
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes 41 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0002974) Radioulnar synostosis 52 / 7739
11
 (HPO:0001763) Pes planus 176 / 7739
12
 (HPO:0000954) Single transverse palmar crease 162 / 7739
13
 (HPO:0001166) Arachnodactyly 62 / 7739
14
 (HPO:0000938) Osteopenia 138 / 7739
15
 (HPO:0002673) Coxa valga 57 / 7739
16
 (HPO:0001388) Joint laxity 117 / 7739
17
 (HPO:0007469) Palmoplantar cutis gyrata 2 / 7739
18
 (HPO:0000774) Narrow chest 167 / 7739
19
 (HPO:0000894) Short clavicles 30 / 7739
20
 (HPO:0004322) Short stature 1232 / 7739
21
 (HPO:0001508) Failure to thrive 454 / 7739
22
 (HPO:0001075) Atrophic scars 15 / 7739
23
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
24
 (HPO:0001324) Muscle weakness 859 / 7739
25
 (HPO:0010547) Muscle flaccidity 466 / 7739
26
 (HPO:0001252) Muscular hypotonia 990 / 7739
27
 (OMIM) Loose, elastic skin 1 / 7739
28
 (OMIM) Long, slender toes 1 / 7739
29
 (OMIM) Galactosyltransferase I deficiency in fibroblasts 1 / 7739
30
 (OMIM) Broad, flat forehead 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The features of the progeroid form of Ehlers-Danlos syndrome include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). ...
Clinical Description OMIM Kresse et al. (1987) described a boy, aged 4 years 9 months, with features of both Ehlers-Danlos syndrome and progeria. In addition to delayed mental development, there were multiple abnormalities of connective tissue, including short stature, osteopenia of ...
Molecular genetics OMIM Okajima et al. (1999) and Almeida et al. (1999) independently performed mutation analysis of the B4GALT7 gene in fibroblasts from the patient reported by Kresse et al. (1987). They found that the patient was a compound heterozygote for ...