MCID: CHR615
MIFTS: 13

Chromosome 19q13.11 Deletion Syndrome, Proximal

Aliases & Classifications for Chromosome 19q13.11 Deletion Syndrome, Proximal

MalaCards integrated aliases for Chromosome 19q13.11 Deletion Syndrome, Proximal:

Name: Chromosome 19q13.11 Deletion Syndrome, Proximal 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
variable features
most deletions occur de novo
incomplete penetrance (some deletions inherited from unaffected parent)


HPO:

31
chromosome 19q13.11 deletion syndrome, proximal:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Summaries for Chromosome 19q13.11 Deletion Syndrome, Proximal

OMIM® : 57 Proximal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability with poor speech, feeding difficulties, and autistic features. Some patients may have additional features, including renal tract anomalies (summary by Caubit et al., 2016). (617219) (Updated 20-May-2021)

MalaCards based summary : Chromosome 19q13.11 Deletion Syndrome, Proximal An important gene associated with Chromosome 19q13.11 Deletion Syndrome, Proximal is DEL19Q13.11P (Chromosome 19q13.11 Deletion Syndrome, Proximal). Affiliated tissues include smooth muscle, and related phenotypes are seizure and intellectual disability

Related Diseases for Chromosome 19q13.11 Deletion Syndrome, Proximal

Symptoms & Phenotypes for Chromosome 19q13.11 Deletion Syndrome, Proximal

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 hip dysplasia 31 HP:0001385
5 absent speech 31 HP:0001344
6 postnatal growth retardation 31 HP:0008897
7 talipes equinovarus 31 HP:0001762
8 clinodactyly of the 5th finger 31 HP:0004209
9 vesicoureteral reflux 31 HP:0000076
10 nephrolithiasis 31 HP:0000787
11 pyloric stenosis 31 HP:0002021
12 tapered finger 31 HP:0001182
13 hydroureter 31 HP:0000072
14 feeding difficulties 31 HP:0011968
15 generalized hypotonia 31 HP:0001290
16 vascular dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
seizures (rare)
delayed development
poor or absent speech

Growth Other:
postnatal growth retardation

Genitourinary Kidneys:
nephrolithiasis
renal tract abnormalities, variable
pyelocalyceal dilatation

Genitourinary Ureters:
hydroureter

Skeletal Hands:
fifth finger clinodactyly
tapered fingers

Skeletal Feet:
clubfoot

Laboratory Abnormalities:
minimal overlapping critical region for deletion 19:31,765,881-31,812,396 (hg19)found in 1 patient

Skeletal Pelvis:
hip dysplasia

Genitourinary Bladder:
vesicoureteral reflux

Abdomen Gastrointestinal:
pyloric stenosis
feeding difficulties

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Face:
dysmorphic features, nonspecific (in some patients)

Clinical features from OMIM®:

617219 (Updated 20-May-2021)

Drugs & Therapeutics for Chromosome 19q13.11 Deletion Syndrome, Proximal

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

Genetic Tests for Chromosome 19q13.11 Deletion Syndrome, Proximal

Anatomical Context for Chromosome 19q13.11 Deletion Syndrome, Proximal

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

40
Smooth Muscle

Publications for Chromosome 19q13.11 Deletion Syndrome, Proximal

Articles related to Chromosome 19q13.11 Deletion Syndrome, Proximal:

# Title Authors PMID Year
1
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. 57
27668656 2016
2
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients. 57
24243649 2014
3
Teashirt 3 is necessary for ureteral smooth muscle differentiation downstream of SHH and BMP4. 57
18776146 2008

Variations for Chromosome 19q13.11 Deletion Syndrome, Proximal

Expression for Chromosome 19q13.11 Deletion Syndrome, Proximal

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

Pathways for Chromosome 19q13.11 Deletion Syndrome, Proximal

GO Terms for Chromosome 19q13.11 Deletion Syndrome, Proximal

Sources for Chromosome 19q13.11 Deletion Syndrome, Proximal

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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