MCID: CHR219
MIFTS: 22

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 : 53 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.

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. An important gene associated with Chromosome 19q13.11 Deletion Syndrome is UBA2 (Ubiquitin Like Modifier Activating Enzyme 2). Affiliated tissues include skin, and related phenotypes are cryptorchidism and hypospadias

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:

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

Anatomical Context for Chromosome 19q13.11 Deletion Syndrome

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

41
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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