MCID: 19P004
MIFTS: 19

19p13.13 Deletion Syndrome

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for 19p13.13 Deletion Syndrome

MalaCards integrated aliases for 19p13.13 Deletion Syndrome:

Name: 19p13.13 Deletion Syndrome 43
Chromosome 19p13.13 Deletion Syndrome 43 70
19p13.13 Microdeletion Syndrome 43
19p13.13 Microdeletion 43

Classifications:



Summaries for 19p13.13 Deletion Syndrome

MedlinePlus Genetics : 43 19p13.13 deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 19 is deleted in each cell. The deletion occurs on the short (p) arm of the chromosome at a position designated p13.13.Features commonly associated with this chromosomal change include an unusually large head size (macrocephaly), tall stature, and intellectual disability that is usually moderate in severity. Many affected individuals have significantly delayed development, including speech, and children may speak few or no words. Weak muscle tone (hypotonia) and problems with coordinating muscle movement (ataxia) contribute to delays in gross motor skills (such as sitting and walking) and fine motor skills (such as holding a pencil).Other signs and symptoms that can occur with 19p13.13 deletion syndrome include seizures, abnormalities of brain structure, and mild differences in facial features (such as a prominent forehead). Many affected individuals have problems with feeding and digestion, including constipation, diarrhea, vomiting, and abdominal pain. Eye problems that can impair vision are also common. These include eyes that do not point in the same direction (strabismus) and underdevelopment of the optic nerves, which carry visual information from the eyes to the brain.The signs and symptoms of 19p13.13 deletion syndrome vary among affected individuals. In part, this variation occurs because the size of the deletion, and the number of genes it affects, varies from person to person.

MalaCards based summary : 19p13.13 Deletion Syndrome, also known as chromosome 19p13.13 deletion syndrome, is related to chromosome 19p13.13 deletion syndrome and strabismus. An important gene associated with 19p13.13 Deletion Syndrome is DEL19P13.13 (Chromosome 19p13.13 Deletion Syndrome). Affiliated tissues include eye, and related phenotypes are macrocephaly and prominent forehead

Related Diseases for 19p13.13 Deletion Syndrome

Diseases related to 19p13.13 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 19p13.13 deletion syndrome 11.6
2 strabismus 10.0
3 ataxia and polyneuropathy, adult-onset 10.0
4 alacrima, achalasia, and mental retardation syndrome 10.0
5 mechanical strabismus 10.0
6 hypotonia 10.0
7 overgrowth syndrome 10.0

Graphical network of the top 20 diseases related to 19p13.13 Deletion Syndrome:



Diseases related to 19p13.13 Deletion Syndrome

Symptoms & Phenotypes for 19p13.13 Deletion Syndrome

Human phenotypes related to 19p13.13 Deletion Syndrome:

31 (show all 46)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 hallmark (90%) HP:0000256
2 prominent forehead 31 hallmark (90%) HP:0011220
3 intellectual disability 31 frequent (33%) HP:0001249
4 global developmental delay 31 frequent (33%) HP:0001263
5 anteverted nares 31 frequent (33%) HP:0000463
6 strabismus 31 frequent (33%) HP:0000486
7 attention deficit hyperactivity disorder 31 frequent (33%) HP:0007018
8 pectus excavatum 31 frequent (33%) HP:0000767
9 downslanted palpebral fissures 31 frequent (33%) HP:0000494
10 long face 31 frequent (33%) HP:0000276
11 functional abnormality of the gastrointestinal tract 31 frequent (33%) HP:0012719
12 nystagmus 31 occasional (7.5%) HP:0000639
13 high palate 31 occasional (7.5%) HP:0000218
14 macroglossia 31 occasional (7.5%) HP:0000158
15 depressed nasal bridge 31 occasional (7.5%) HP:0005280
16 hypertelorism 31 occasional (7.5%) HP:0000316
17 macrotia 31 occasional (7.5%) HP:0000400
18 pes planus 31 occasional (7.5%) HP:0001763
19 short nose 31 occasional (7.5%) HP:0003196
20 smooth philtrum 31 occasional (7.5%) HP:0000319
21 optic atrophy 31 occasional (7.5%) HP:0000648
22 vomiting 31 occasional (7.5%) HP:0002013
23 brachycephaly 31 occasional (7.5%) HP:0000248
24 low-set ears 31 occasional (7.5%) HP:0000369
25 epicanthus 31 occasional (7.5%) HP:0000286
26 abdominal pain 31 occasional (7.5%) HP:0002027
27 dolichocephaly 31 occasional (7.5%) HP:0000268
28 narrow mouth 31 occasional (7.5%) HP:0000160
29 sandal gap 31 occasional (7.5%) HP:0001852
30 thin upper lip vermilion 31 occasional (7.5%) HP:0000219
31 deeply set eye 31 occasional (7.5%) HP:0000490
32 malar flattening 31 occasional (7.5%) HP:0000272
33 increased nuchal translucency 31 occasional (7.5%) HP:0010880
34 long eyelashes 31 occasional (7.5%) HP:0000527
35 feeding difficulties 31 occasional (7.5%) HP:0011968
36 deep plantar creases 31 occasional (7.5%) HP:0001869
37 cafe-au-lait spot 31 occasional (7.5%) HP:0000957
38 diarrhea 31 occasional (7.5%) HP:0002014
39 syringomyelia 31 occasional (7.5%) HP:0003396
40 optic nerve hypoplasia 31 occasional (7.5%) HP:0000609
41 long fingers 31 occasional (7.5%) HP:0100807
42 clinodactyly 31 occasional (7.5%) HP:0030084
43 corpus callosum atrophy 31 occasional (7.5%) HP:0007371
44 arnold-chiari type i malformation 31 occasional (7.5%) HP:0007099
45 hypoplasia of the frontal lobes 31 occasional (7.5%) HP:0007333
46 seizure 31 occasional (7.5%) HP:0001250

Drugs & Therapeutics for 19p13.13 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for 19p13.13 Deletion Syndrome

Genetic Tests for 19p13.13 Deletion Syndrome

Anatomical Context for 19p13.13 Deletion Syndrome

MalaCards organs/tissues related to 19p13.13 Deletion Syndrome:

40
Eye

Publications for 19p13.13 Deletion Syndrome

Articles related to 19p13.13 Deletion Syndrome:

# Title Authors PMID Year
1
MAST1 modulates neuronal differentiation and cell cycle exit via P27 in neuroblastoma cells. 61
32291963 2020
2
Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities. 61
26338046 2015

Variations for 19p13.13 Deletion Syndrome

Expression for 19p13.13 Deletion Syndrome

Search GEO for disease gene expression data for 19p13.13 Deletion Syndrome.

Pathways for 19p13.13 Deletion Syndrome

GO Terms for 19p13.13 Deletion Syndrome

Sources for 19p13.13 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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