MCID: CHR616
MIFTS: 23

Chromosome 19q13.11 Deletion Syndrome, Distal

Categories: Fetal diseases, Neuronal diseases, Rare diseases

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

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

Name: Chromosome 19q13.11 Deletion Syndrome, Distal 57
19q13.11 Microdeletion Syndrome 58
Monosomy 19q13.11 58
Del(19)(q13.11) 58

Characteristics:

Orphanet epidemiological data:

58
19q13.11 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
most deletions occur de novo


HPO:

31
chromosome 19q13.11 deletion syndrome, distal:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 19q13.11 Deletion Syndrome, Distal

OMIM® : 57 Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. Additional features include dysmorphic facies, signs of ectodermal dysplasia, hand and foot anomalies, and genitourinary anomalies, particularly in males (summary by Chowdhury et al., 2014). (613026) (Updated 05-Apr-2021)

MalaCards based summary : Chromosome 19q13.11 Deletion Syndrome, Distal, also known as 19q13.11 microdeletion syndrome, is related to chromosome 19q13.11 deletion syndrome. An important gene associated with Chromosome 19q13.11 Deletion Syndrome, Distal is DEL19Q13.11 (Chromosome 19q13.11 Deletion Syndrome). Affiliated tissues include heart, and related phenotypes are febrile seizure (within the age range of 3 months to 6 years) and intellectual disability

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

Diseases related to Chromosome 19q13.11 Deletion Syndrome, Distal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 19q13.11 deletion syndrome 31.1 UBA2 DEL19Q13.11

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

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

31 58 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
2 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
3 failure to thrive 58 31 Very frequent (99-80%) HP:0001508
4 microcephaly 58 31 Very frequent (99-80%) HP:0000252
5 cryptorchidism 58 31 Frequent (79-30%) HP:0000028
6 dry skin 58 31 Frequent (79-30%) HP:0000958
7 intrauterine growth retardation 58 31 Very frequent (99-80%) HP:0001511
8 wide intermamillary distance 58 31 Frequent (79-30%) HP:0006610
9 retrognathia 58 31 Frequent (79-30%) HP:0000278
10 clinodactyly of the 5th finger 58 31 Very frequent (99-80%) HP:0004209
11 bifid scrotum 58 31 Occasional (29-5%) HP:0000048
12 long face 58 31 Frequent (79-30%) HP:0000276
13 hypospadias 58 31 Very frequent (99-80%) HP:0000047
14 high forehead 58 31 Frequent (79-30%) HP:0000348
15 thin vermilion border 58 31 Frequent (79-30%) HP:0000233
16 underdeveloped nasal alae 58 31 Frequent (79-30%) HP:0000430
17 nail dysplasia 58 31 Frequent (79-30%) HP:0002164
18 ptosis 31 HP:0000508
19 hearing impairment 58 Occasional (29-5%)
20 cataract 58 Occasional (29-5%)
21 global developmental delay 31 HP:0001263
22 inguinal hernia 31 HP:0000023
23 macrotia 31 HP:0000400
24 recurrent respiratory infections 58 Frequent (79-30%)
25 wide nasal bridge 31 HP:0000431
26 carious teeth 31 HP:0000670
27 delayed speech and language development 58 Very frequent (99-80%)
28 short nose 31 HP:0003196
29 anteverted nares 31 HP:0000463
30 short stature 31 HP:0004322
31 feeding difficulties in infancy 31 HP:0008872
32 malformation of the heart and great vessels 58 Occasional (29-5%)
33 growth delay 58 Very frequent (99-80%)
34 postnatal growth retardation 31 HP:0008897
35 micrognathia 31 HP:0000347
36 low-set ears 31 HP:0000369
37 congenital hip dislocation 58 Occasional (29-5%)
38 wide mouth 58 Occasional (29-5%)
39 cachexia 58 Very frequent (99-80%)
40 hypotrichosis 58 Frequent (79-30%)
41 abnormal cardiac septum morphology 31 HP:0001671
42 fine hair 58 Frequent (79-30%)
43 short philtrum 31 HP:0000322
44 ventricular septal defect 58 Occasional (29-5%)
45 blepharophimosis 31 HP:0000581
46 hypodontia 31 HP:0000668
47 finger syndactyly 58 Frequent (79-30%)
48 microcornea 58 Occasional (29-5%)
49 cutaneous finger syndactyly 31 HP:0010554
50 toe syndactyly 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
postnatal growth retardation
prenatal growth retardation
slender habitus

Genitourinary External Genitalia Male:
inguinal hernia
cryptorchidism
bifid scrotum
hypospadias
testicular ectopia

Head And Neck Nose:
short nose
broad nasal bridge
hypoplastic nasal alae
upturned nares
v-shaped nasal tip
more
Growth Height:
short stature

Head And Neck Ears:
low-set ears
large ears

Abdomen Gastrointestinal:
feeding difficulties

Respiratory:
recurrent infections

Skeletal Feet:
cutaneous syndactyly
overlapping toes

Cardiovascular Heart:
septal defects

Chest Breasts:
widely spaced nipples

Growth Weight:
low weight

Skin Nails Hair Skin:
thin, dry skin
cutis aplasia, occipital

Genitourinary Kidneys:
renal tract malformations

Laboratory Abnormalities:
minimal overlapping critical region for deletion 19:39,803,651-40,127,916 (hg18)

Head And Neck Eyes:
ptosis
blepharophimosis
astigmatism
short palpebral fissures
long palpebral fissures
more
Genitourinary External Genitalia Female:
inguinal hernia

Head And Neck Head:
microcephaly

Head And Neck Face:
retrognathia
micrognathia
long face
short philtrum
high forehead

Head And Neck Teeth:
hypodontia
dental caries

Cardiovascular Vascular:
single umbilical artery

Skeletal Hands:
cutaneous syndactyly
fifth finger clinodactyly
long, tapering digits

Skin Nails Hair Hair:
thin, sparse hair
thin, sparse eyebrows
thin, sparse eyelashes

Neurologic Central Nervous System:
mental retardation
delayed psychomotor development
little or no speech acquisition
febrile seizures (rare)

Skin Nails Hair Nails:
dysplastic nails

Head And Neck Mouth:
thin lips

Muscle Soft Tissue:
little subcutaneous fat

Prenatal Manifestations Delivery:
pre-term delivery

Clinical features from OMIM®:

613026 (Updated 05-Apr-2021)

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

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

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

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

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

40
Heart

Publications for Chromosome 19q13.11 Deletion Syndrome, Distal

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

# Title Authors PMID Year
1
19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype. 57 61
25516771 2014
2
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients. 61 57
24243649 2014
3
Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb. 61 57
19487540 2009
4
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. 57
27992417 2017
5
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 57
22378287 2012
6
19q13 microdeletion syndrome: Further refining the critical region. 57
22510526 2012
7
Renal malformations associated with mutations of developmental genes: messages from the clinic. 57
20603712 2010
8
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. 57
19126570 2009
9
Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems. 57
9632168 1998
10
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome. 61
26377242 2015

Variations for Chromosome 19q13.11 Deletion Syndrome, Distal

ClinVar genetic disease variations for Chromosome 19q13.11 Deletion Syndrome, Distal:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UBA2 NM_005499.3(UBA2):c.800T>A (p.Leu267Ter) SNV Pathogenic 977797 GRCh37: 19:34941198-34941198
GRCh38: 19:34450293-34450293

Expression for Chromosome 19q13.11 Deletion Syndrome, Distal

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

Pathways for Chromosome 19q13.11 Deletion Syndrome, Distal

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

Sources for Chromosome 19q13.11 Deletion Syndrome, Distal

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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