MCID: CHR616
MIFTS: 23

Chromosome 19q13.11 Deletion Syndrome, Distal

Categories: Neuronal diseases, Fetal 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 59
Monosomy 19q13.11 59
Del(19)(q13.11) 59

Characteristics:

Orphanet epidemiological data:

59
19q13.11 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
most deletions occur de novo


HPO:

32
chromosome 19q13.11 deletion syndrome, distal:
Inheritance autosomal dominant inheritance sporadic


Classifications:



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)

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 11.4

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 Very frequent (99-80%) HP:0001249
2 failure to thrive 59 32 Very frequent (99-80%) HP:0001508
3 microcephaly 59 32 Very frequent (99-80%) HP:0000252
4 retrognathia 59 32 Frequent (79-30%) HP:0000278
5 cryptorchidism 59 32 Frequent (79-30%) HP:0000028
6 dry skin 59 32 Frequent (79-30%) HP:0000958
7 intrauterine growth retardation 59 32 Very frequent (99-80%) HP:0001511
8 wide intermamillary distance 59 32 Frequent (79-30%) HP:0006610
9 underdeveloped nasal alae 59 32 Frequent (79-30%) HP:0000430
10 hypospadias 59 32 Very frequent (99-80%) HP:0000047
11 clinodactyly of the 5th finger 59 32 Very frequent (99-80%) HP:0004209
12 long face 59 32 Frequent (79-30%) HP:0000276
13 high forehead 59 32 Frequent (79-30%) HP:0000348
14 nail dysplasia 59 32 Frequent (79-30%) HP:0002164
15 thin vermilion border 59 32 Frequent (79-30%) HP:0000233
16 bifid scrotum 59 32 Occasional (29-5%) HP:0000048
17 low-set ears 32 HP:0000369
18 finger syndactyly 59 Frequent (79-30%)
19 ptosis 32 HP:0000508
20 inguinal hernia 32 HP:0000023
21 hearing impairment 59 Occasional (29-5%)
22 macrotia 32 HP:0000400
23 cataract 59 Occasional (29-5%)
24 global developmental delay 32 HP:0001263
25 recurrent respiratory infections 59 Frequent (79-30%)
26 wide nasal bridge 32 HP:0000431
27 carious teeth 32 HP:0000670
28 delayed speech and language development 59 Very frequent (99-80%)
29 short nose 32 HP:0003196
30 anteverted nares 32 HP:0000463
31 short stature 32 HP:0004322
32 feeding difficulties in infancy 32 HP:0008872
33 micrognathia 32 HP:0000347
34 feeding difficulties 59 Very frequent (99-80%)
35 malformation of the heart and great vessels 59 Occasional (29-5%)
36 thin skin 59 Frequent (79-30%)
37 toe clinodactyly 59 Frequent (79-30%)
38 growth delay 59 Very frequent (99-80%)
39 postnatal growth retardation 32 HP:0008897
40 cachexia 59 Very frequent (99-80%)
41 wide mouth 59 Occasional (29-5%)
42 short philtrum 32 HP:0000322
43 febrile seizures 32 occasional (7.5%) HP:0002373
44 hypotrichosis 59 Frequent (79-30%)
45 ventricular septal defect 59 Occasional (29-5%)
46 recurrent infections 32 HP:0002719
47 fine hair 59 Frequent (79-30%)
48 blepharophimosis 32 HP:0000581
49 hypodontia 32 HP:0000668
50 long palpebral fissure 32 HP:0000637

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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