MCID: CHR219
MIFTS: 21

Chromosome 19q13.11 Deletion Syndrome

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Chromosome 19q13.11 Deletion Syndrome

Summaries for Chromosome 19q13.11 Deletion Syndrome

NIH Rare Diseases : 50 chromosome 19q13.11 deletionsyndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on chromosome 19 at a location designated q13.11. people affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin abnormalities. to date, all cases of chromosome 19q13.11 deletion syndrome appear to be sporadic and diagnosed in people with no family history of the condition. treatment is based on the signs and symptoms present in each person. last updated: 10/10/2016

MalaCards based summary : Chromosome 19q13.11 Deletion Syndrome, also known as 19q13.11 microdeletion syndrome, is related to chromosome 19q13.11 deletion syndrome, distal and chromosome 1q21.1 deletion syndrome, and has symptoms including failure to thrive, recurrent respiratory infections and wide mouth. An important gene associated with Chromosome 19q13.11 Deletion Syndrome is UBA2 (Ubiquitin Like Modifier Activating Enzyme 2). Affiliated tissues include skin.

Related Diseases for Chromosome 19q13.11 Deletion Syndrome

Diseases related to Chromosome 19q13.11 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 chromosome 19q13.11 deletion syndrome, distal 12.3
2 chromosome 1q21.1 deletion syndrome 8.4 DEL19Q13.11 DEL19Q13.11P UBA2 WTIP

Symptoms & Phenotypes for Chromosome 19q13.11 Deletion Syndrome

Human phenotypes related to Chromosome 19q13.11 Deletion Syndrome:

32 (show all 39)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 hallmark (90%) HP:0001508
2 recurrent respiratory infections 32 frequent (33%) HP:0002205
3 wide mouth 32 occasional (7.5%) HP:0000154
4 high forehead 32 frequent (33%) HP:0000348
5 microcephaly 32 hallmark (90%) HP:0000252
6 long face 32 frequent (33%) HP:0000276
7 sparse hair 32 frequent (33%) HP:0008070
8 intrauterine growth retardation 32 hallmark (90%) HP:0001511
9 hypospadias 32 hallmark (90%) HP:0000047
10 retrognathia 32 frequent (33%) HP:0000278
11 microcornea 32 occasional (7.5%) HP:0000482
12 cryptorchidism 32 frequent (33%) HP:0000028
13 thin skin 32 frequent (33%) HP:0000963
14 intellectual disability 32 hallmark (90%) HP:0001249
15 cataract 32 occasional (7.5%) HP:0000518
16 ventricular septal defect 32 occasional (7.5%) HP:0001629
17 thin vermilion border 32 frequent (33%) HP:0000233
18 bifid scrotum 32 occasional (7.5%) HP:0000048
19 finger syndactyly 32 frequent (33%) HP:0006101
20 toe syndactyly 32 frequent (33%) HP:0001770
21 dry skin 32 frequent (33%) HP:0000958
22 feeding difficulties 32 hallmark (90%) HP:0011968
23 sparse or absent eyelashes 32 frequent (33%) HP:0200102
24 congenital hip dislocation 32 occasional (7.5%) HP:0001374
25 fine hair 32 frequent (33%) HP:0002213
26 hypotrichosis 32 frequent (33%) HP:0001006
27 nail dysplasia 32 frequent (33%) HP:0002164
28 hearing impairment 32 occasional (7.5%) HP:0000365
29 aplasia cutis congenita 32 hallmark (90%) HP:0001057
30 cachexia 32 hallmark (90%) HP:0004326
31 delayed speech and language development 32 hallmark (90%) HP:0000750
32 supernumerary nipple 32 frequent (33%) HP:0002558
33 broad columella 32 frequent (33%) HP:0010761
34 toe clinodactyly 32 frequent (33%) HP:0001863
35 wide intermamillary distance 32 frequent (33%) HP:0006610
36 underdeveloped nasal alae 32 frequent (33%) HP:0000430
37 clinodactyly of the 5th finger 32 hallmark (90%) HP:0004209
38 sparse lateral eyebrow 32 frequent (33%) HP:0005338
39 single median maxillary incisor 32 occasional (7.5%) HP:0006315

Drugs & Therapeutics for Chromosome 19q13.11 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 19q13.11 Deletion Syndrome

Cochrane evidence based reviews: chromosome 19q13.11 deletion syndrome

Genetic Tests for Chromosome 19q13.11 Deletion Syndrome

Genetic tests related to Chromosome 19q13.11 Deletion Syndrome:

id Genetic test Affiliating Genes
1 Chromosome 19q13.11 Deletion Syndrome 29

Anatomical Context for Chromosome 19q13.11 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 19q13.11 Deletion Syndrome:

39
Skin

Publications for Chromosome 19q13.11 Deletion Syndrome

Variations for Chromosome 19q13.11 Deletion Syndrome

Expression for Chromosome 19q13.11 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 19q13.11 Deletion Syndrome.

Pathways for Chromosome 19q13.11 Deletion Syndrome

GO Terms for Chromosome 19q13.11 Deletion Syndrome

Sources for Chromosome 19q13.11 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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