MCID: CHR219
MIFTS: 23

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 : 49 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 19q13.11 deletion syndrome, proximal, and has symptoms including cryptorchidism, hypospadias and bifid scrotum. 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:

# Related Disease Score Top Affiliating Genes
1 chromosome 19q13.11 deletion syndrome, distal 12.4
2 chromosome 19q13.11 deletion syndrome, proximal 12.4

Symptoms & Phenotypes for Chromosome 19q13.11 Deletion Syndrome

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

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

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:

# Genetic test Affiliating Genes
1 Chromosome 19q13.11 Deletion Syndrome 28

Anatomical Context for Chromosome 19q13.11 Deletion Syndrome

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

38
Skin

Publications for Chromosome 19q13.11 Deletion Syndrome

Articles related to Chromosome 19q13.11 Deletion Syndrome:

# Title Authors Year
1
Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb. ( 19487540 )
2009

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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