Trisomy 5p

General Information (adopted from Orphanet):

Synonyms, Signs: Short arm of chromosome 5 trisomy
Duplication 5p
Number of Symptoms 17
OrphanetNr: 1742
OMIM Id:
ICD-10: Q92.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Chromosomal anomaly with cataract
 -Rare eye disease
 -Rare genetic disease
Chromosomal disease with overgrowth
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial trisomy/tetrasomy of the short arm of chromosome 5
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
2
 (HPO:0008678) Renal hypoplasia/aplasia Very frequent [Orphanet] 127 / 7739
3
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
4
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
5
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
6
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
7
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
8
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
9
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
10
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
11
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
12
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
13
 (HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
14
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
15
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
16
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
17
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: