Ehlers-Danlos syndrome, progeroid type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
B4GALT7-CDG PDS Galactosyltransferase I deficiency Xylosylprotein 4-beta-galactosyltransferase deficiency Defective biosynthesis of proteodermatan sulfate XGPT deficiency EDS, progeroid type |
| Number of Symptoms | 47 |
| OrphanetNr: | 75496 |
| OMIM Id: |
130070
615349 |
| ICD-10: |
Q79.6 |
| UMLs: |
C1869122 |
| MeSH: |
C536201 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital disorder of glycosylation with skin involvement
-Rare genetic disease -Rare skin disease Congenital disorder of glycosylation-related bone disorder -Rare developmental defect during embryogenesis -Rare genetic disease Disorder of O-xylosylglycan synthesis -Rare genetic disease Ehlers-Danlos syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease -Rare systemic or rheumatologic disease Primary bone dysplasia with decreased bone density -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
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(HPO:0100813) | Testicular torsion | Very frequent [Orphanet] | 3 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0000520) | Proptosis | 192 / 7739 | ||||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000160) | Narrow mouth | 188 / 7739 | ||||
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(HPO:0000274) | Small face | 18 / 7739 | ||||
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(HPO:0000506) | Telecanthus | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000256) | Macrocephaly | 298 / 7739 | ||||
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(HPO:0000230) | Gingivitis | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0001999) | Abnormal facial shape | Frequent [Orphanet] | 169 / 7739 | |||
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(HPO:0000193) | Bifid uvula | 66 / 7739 | ||||
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(HPO:0002209) | Sparse scalp hair | 59 / 7739 | ||||
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(HPO:0000387) | Absent earlobe | 5 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0011308) | Slender toe | 2 / 7739 | ||||
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(HPO:0002673) | Coxa valga | 57 / 7739 | ||||
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(HPO:0001388) | Joint laxity | 117 / 7739 | ||||
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(HPO:0000938) | Osteopenia | 138 / 7739 | ||||
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(HPO:0001763) | Pes planus | 176 / 7739 | ||||
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(HPO:0000894) | Short clavicles | 30 / 7739 | ||||
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(HPO:0002652) | Skeletal dysplasia | Frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0007469) | Palmoplantar cutis gyrata | 2 / 7739 | ||||
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(HPO:0000774) | Narrow chest | 167 / 7739 | ||||
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(HPO:0000954) | Single transverse palmar crease | 162 / 7739 | ||||
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(HPO:0001166) | Arachnodactyly | 62 / 7739 | ||||
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(HPO:0002974) | Radioulnar synostosis | 52 / 7739 | ||||
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(HPO:0004349) | Reduced bone mineral density | Frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0001382) | Joint hypermobility | Occasional [Orphanet] | 231 / 7739 | |||
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(HPO:0010511) | Long toe | 9 / 7739 | ||||
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(HPO:0010318) | Aplasia/Hypoplasia of the abdominal wall musculature | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0100678) | Premature skin wrinkling | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | Frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0000987) | Atypical scarring of skin | Frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0001596) | Alopecia | Frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0001075) | Atrophic scars | 15 / 7739 | ||||
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(HPO:0000963) | Thin skin | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0007495) | Prematurely aged appearance | Very frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0001595) | Abnormality of the hair | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0001646) | Abnormality of the aortic valve | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0001641) | Abnormality of the pulmonary valve | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0003394) | Muscle cramps | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0009125) | Lipodystrophy | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|