MCID: CHR616
MIFTS: 24

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 58
19q13.11 Microdeletion Syndrome 60
Monosomy 19q13.11 60
Del(19)(q13.11) 60

Characteristics:

Orphanet epidemiological data:

60
19q13.11 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
most deletions occur de novo


HPO:

33
chromosome 19q13.11 deletion syndrome, distal:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 19q13.11 Deletion Syndrome, Distal

OMIM : 58 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)

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 skin and heart, and related phenotypes are intellectual disability and failure to thrive

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 11.6

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

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

60 33 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
3 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
4 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
5 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
6 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
7 cachexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004326
8 hypospadias 60 33 hallmark (90%) Very frequent (99-80%) HP:0000047
9 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
10 aplasia cutis congenita 60 33 hallmark (90%) Very frequent (99-80%) HP:0001057
11 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
12 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
13 retrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000278
14 thin skin 60 33 frequent (33%) Frequent (79-30%) HP:0000963
15 toe clinodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001863
16 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
17 dry skin 60 33 frequent (33%) Frequent (79-30%) HP:0000958
18 wide intermamillary distance 60 33 frequent (33%) Frequent (79-30%) HP:0006610
19 underdeveloped nasal alae 60 33 frequent (33%) Frequent (79-30%) HP:0000430
20 hypotrichosis 60 33 frequent (33%) Frequent (79-30%) HP:0001006
21 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
22 fine hair 60 33 frequent (33%) Frequent (79-30%) HP:0002213
23 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348
24 nail dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002164
25 thin vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0000233
26 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001770
27 sparse lateral eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0005338
28 sparse hair 60 33 frequent (33%) Frequent (79-30%) HP:0008070
29 supernumerary nipple 60 33 frequent (33%) Frequent (79-30%) HP:0002558
30 broad columella 60 33 frequent (33%) Frequent (79-30%) HP:0010761
31 sparse or absent eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0200102
32 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
33 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
34 congenital hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001374
35 wide mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000154
36 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
37 bifid scrotum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000048
38 microcornea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000482
39 single median maxillary incisor 60 33 occasional (7.5%) Occasional (29-5%) HP:0006315
40 febrile seizures 33 occasional (7.5%) HP:0002373
41 low-set ears 33 HP:0000369
42 ptosis 33 HP:0000508
43 inguinal hernia 33 HP:0000023
44 macrotia 33 HP:0000400
45 global developmental delay 33 HP:0001263
46 wide nasal bridge 33 HP:0000431
47 carious teeth 33 HP:0000670
48 short nose 33 HP:0003196
49 anteverted nares 33 HP:0000463
50 short stature 33 HP:0004322

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
large ears

Growth Other:
failure to thrive
postnatal growth retardation
prenatal growth retardation
slender habitus

Genitourinary External Genitalia Female:
inguinal hernia

Head And Neck Head:
microcephaly

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

Respiratory:
recurrent infections

Cardiovascular Vascular:
single umbilical artery

Skeletal Feet:
cutaneous syndactyly
overlapping toes

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

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 Male:
inguinal hernia
cryptorchidism
hypospadias
bifid scrotum
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

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Teeth:
hypodontia
dental caries

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

Cardiovascular Heart:
septal defects

Chest Breasts:
widely spaced nipples

Growth Weight:
low weight

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

Muscle Soft Tissue:
little subcutaneous fat

Prenatal Manifestations Delivery:
pre-term delivery

Clinical features from OMIM:

613026

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:

42
Skin, Heart

Publications for Chromosome 19q13.11 Deletion Syndrome, Distal

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

# 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, Distal

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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