Turner syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
45,X/46,XX syndrome 45,X syndrome Monosomy X |
| Number of Symptoms | 25 |
| OrphanetNr: | 881 |
| OMIM Id: |
|
| ICD-10: |
Q96 |
| UMLs: |
C0041408 |
| MeSH: |
D014424 |
| MedDRA: |
10045181 |
| Snomed: |
38804009 |
Prevalence, inheritance and age of onset:
| Prevalence: | 20 of 100 000 [Orphanet] |
| Inheritance: |
Unknown Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Chromosomal anomaly with cataract
-Rare eye disease -Rare genetic disease Non-acquired premature ovarian failure -Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease Rare endocrine growth disease -Rare endocrine disease Sex chromosome disorder of sex development -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare urogenital disease Syndrome with disorder of sex development of gynecological interest -Rare genetic disease -Rare gynecologic or obstetric disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic epicanthus -Rare eye disease -Rare genetic disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease Syndromic urogenital tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare urogenital disease X chromosome number anomaly with female phenotype -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000137) | Abnormality of the ovary | Very frequent [Orphanet] | 41 / 7739 | |||
|
|
(HPO:0000869) | Secondary amenorrhea | Frequent [Orphanet] | 42 / 7739 | |||
|
|
(HPO:0100542) | Abnormal localization of kidney | Frequent [Orphanet] | 64 / 7739 | |||
|
|
(HPO:0000465) | Webbed neck | Frequent [Orphanet] | 81 / 7739 | |||
|
|
(HPO:0000476) | Cystic hygroma | Occasional [Orphanet] | 22 / 7739 | |||
|
|
(HPO:0002162) | Low posterior hairline | Very frequent [Orphanet] | 88 / 7739 | |||
|
|
(HPO:0000508) | Ptosis | Occasional [Orphanet] | 459 / 7739 | |||
|
|
(HPO:0004404) | Abnormality of the nipple | Very frequent [Orphanet] | 54 / 7739 | |||
|
|
(HPO:0006709) | Aplasia/Hypoplasia of the nipples | Very frequent [Orphanet] | 28 / 7739 | |||
|
|
(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
|
|
(HPO:0004349) | Reduced bone mineral density | Occasional [Orphanet] | 165 / 7739 | |||
|
|
(HPO:0100625) | Enlarged thorax | Very frequent [Orphanet] | 15 / 7739 | |||
|
|
(HPO:0002967) | Cubitus valgus | Very frequent [Orphanet] | 49 / 7739 | |||
|
|
(HPO:0002750) | Delayed skeletal maturation | Occasional [Orphanet] | 250 / 7739 | |||
|
|
(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0000995) | Melanocytic nevus | Frequent [Orphanet] | 63 / 7739 | |||
|
|
(HPO:0000987) | Atypical scarring of skin | Occasional [Orphanet] | 58 / 7739 | |||
|
|
(HPO:0001800) | Hypoplastic toenails | Frequent [Orphanet] | 74 / 7739 | |||
|
|
(HPO:0007477) | Abnormal dermatoglyphics | Frequent [Orphanet] | 72 / 7739 | |||
|
|
(HPO:0001231) | Abnormality of the fingernails | Frequent [Orphanet] | 116 / 7739 | |||
|
|
(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
|
|
(HPO:0012303) | Abnormality of the aortic arch | Very frequent [Orphanet] | 57 / 7739 | |||
|
|
(HPO:0001004) | Lymphedema | Occasional [Orphanet] | 62 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|