Trisomy 1q

General Information (adopted from Orphanet):

Synonyms, Signs: Duplication 1q
Number of Symptoms 43
OrphanetNr: 261344
OMIM Id:
ICD-10: Q92.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Partial duplication of the long arm of chromosome 1
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000046) Scrotal hypoplasia Occasional [Orphanet] 54 / 7739
2
 (HPO:0000062) Ambiguous genitalia Occasional [Orphanet] 74 / 7739
3
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
4
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
5
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
6
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
7
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
8
 (HPO:0000476) Cystic hygroma Frequent [Orphanet] 22 / 7739
9
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
10
 (HPO:0000601) Hypotelorism Occasional [Orphanet] 83 / 7739
11
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
12
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
13
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
14
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
15
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
16
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
17
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
18
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Occasional [Orphanet] 67 / 7739
19
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
20
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
21
 (HPO:0004404) Abnormality of the nipple Occasional [Orphanet] 54 / 7739
22
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
23
 (HPO:0005257) Thoracic hypoplasia Occasional [Orphanet] 79 / 7739
24
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
25
 (HPO:0001177) Preaxial hand polydactyly Occasional [Orphanet] 59 / 7739
26
 (HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
27
 (HPO:0001833) Long foot Frequent [Orphanet] 33 / 7739
28
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
29
 (HPO:0010880) Increased nuchal translucency Frequent [Orphanet] 13 / 7739
30
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
31
 (HPO:0001789) Hydrops fetalis Occasional [Orphanet] 63 / 7739
32
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
33
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
34
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
35
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
36
 (HPO:0001800) Hypoplastic toenails Occasional [Orphanet] 74 / 7739
37
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
38
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
39
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
40
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
41
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
42
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
43
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: