MCID: CHR615
MIFTS: 12

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
Inheritance:
autosomal dominant

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


HPO:

32
chromosome 19q13.11 deletion syndrome, proximal:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


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)

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). Related phenotypes are hydroureter and vesicoureteral reflux

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

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
seizures (rare)
delayed development
poor or absent speech

Abdomen Gastrointestinal:
feeding difficulties
pyloric stenosis

Genitourinary Bladder:
vesicoureteral reflux

Genitourinary Ureters:
hydroureter

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

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

Skeletal Pelvis:
hip dysplasia

Growth Other:
postnatal growth retardation

Genitourinary Kidneys:
nephrolithiasis
renal tract abnormalities, variable
pyelocalyceal dilatation

Skeletal Feet:
clubfoot

Skeletal Hands:
fifth finger clinodactyly
tapered fingers

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


Clinical features from OMIM:

617219

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hydroureter 32 HP:0000072
2 vesicoureteral reflux 32 HP:0000076
3 nephrolithiasis 32 HP:0000787
4 tapered finger 32 HP:0001182
5 intellectual disability 32 HP:0001249
6 seizures 32 occasional (7.5%) HP:0001250
7 global developmental delay 32 HP:0001263
8 generalized hypotonia 32 HP:0001290
9 hip dysplasia 32 HP:0001385
10 talipes equinovarus 32 HP:0001762
11 pyloric stenosis 32 HP:0002021
12 clinodactyly of the 5th finger 32 HP:0004209
13 postnatal growth retardation 32 HP:0008897
14 feeding difficulties 32 HP:0011968

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

Publications for Chromosome 19q13.11 Deletion Syndrome, Proximal

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

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