MCID: CHR457
MIFTS: 19

Chromosome 17p13.1 Deletion Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Chromosome 17p13.1 Deletion Syndrome

MalaCards integrated aliases for Chromosome 17p13.1 Deletion Syndrome:

Name: Chromosome 17p13.1 Deletion Syndrome 57 12 53 29 13 6 73
Distal 17p13.1 Microdeletion Syndrome 53 59
Distal Del(17)(p13.1) 53 59
Classical Lissencephalies and Subcortical Band Heterotopias 44
17p13.1 Deletion Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
deletion sizes range from 287kb to 4.4mb


HPO:

32
chromosome 17p13.1 deletion syndrome:
Inheritance contiguous gene syndrome autosomal dominant inheritance


Classifications:



Summaries for Chromosome 17p13.1 Deletion Syndrome

MalaCards based summary : Chromosome 17p13.1 Deletion Syndrome, is also known as distal 17p13.1 microdeletion syndrome, and has symptoms including sleep disturbances An important gene associated with Chromosome 17p13.1 Deletion Syndrome is DEL17P13.1 (Chromosome 17p13.1 Deletion Syndrome). Related phenotypes are short neck and high palate

Description from OMIM: 613776

Related Diseases for Chromosome 17p13.1 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 17p13.1 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck
webbed neck (in some patients)

Growth Other:
feeding difficulties

Head And Neck Nose:
prominent nasal bridge
upturned nasal tip

Muscle Soft Tissue:
ankle clonus
hypotonia
brisk deep tendon reflexes

Skeletal:
ligamentous laxity

Skeletal Hands:
short hands
proximally placed thumbs

Abdomen Gastrointestinal:
gastrointestinal reflux

Chest Breasts:
inverted nipples, bilaterally

Neurologic Behavioral Psychiatric Manifestations:
developmental disorder, pervasive

Neurologic Central Nervous System:
hydrocephalus
sleep disturbances
developmental delay, global
speech, limited or nonverbal

Head And Neck Eyes:
strabismus
downslanting palpebral fissures
epicanthal folds
high-arched eyebrows

Head And Neck Face:
high forehead
small chin
recessed chin

Skeletal Feet:
long hallux
broad hallux
short feet

Head And Neck Mouth:
high-arched palate
lips thin
corners of mouth downturned

Skeletal Limbs:
elbow contractures
knee contractures

Head And Neck Ears:
earlobe pits

Skeletal Pelvis:
sacral crease

Neoplasia:
no cancer despite harboring complete deletions of the tp53 gene


Clinical features from OMIM:

613776

Human phenotypes related to Chromosome 17p13.1 Deletion Syndrome:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 high palate 32 HP:0000218
3 hydrocephalus 32 HP:0000238
4 sleep disturbance 32 HP:0002360
5 global developmental delay 32 HP:0001263
6 anteverted nares 32 HP:0000463
7 feeding difficulties 32 HP:0011968
8 strabismus 32 HP:0000486
9 short palm 32 HP:0004279
10 epicanthus 32 HP:0000286
11 short foot 32 HP:0001773
12 webbed neck 32 occasional (7.5%) HP:0000465
13 inverted nipples 32 HP:0003186
14 prominent nasal bridge 32 HP:0000426
15 downslanted palpebral fissures 32 HP:0000494
16 joint laxity 32 HP:0001388
17 high forehead 32 HP:0000348
18 highly arched eyebrow 32 HP:0002553
19 proximal placement of thumb 32 HP:0009623
20 ankle clonus 32 HP:0011448
21 long hallux 32 HP:0001847
22 generalized hypotonia 32 HP:0001290
23 knee flexion contracture 32 HP:0006380
24 hyperactive deep tendon reflexes 32 HP:0006801
25 broad hallux 32 HP:0010055
26 short chin 32 HP:0000331
27 elbow flexion contracture 32 HP:0002987

UMLS symptoms related to Chromosome 17p13.1 Deletion Syndrome:


sleep disturbances

Drugs & Therapeutics for Chromosome 17p13.1 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 17p13.1 Deletion Syndrome

Cochrane evidence based reviews: classical lissencephalies and subcortical band heterotopias

Genetic Tests for Chromosome 17p13.1 Deletion Syndrome

Genetic tests related to Chromosome 17p13.1 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 17p13.1 Deletion Syndrome 29

Anatomical Context for Chromosome 17p13.1 Deletion Syndrome

Publications for Chromosome 17p13.1 Deletion Syndrome

Variations for Chromosome 17p13.1 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 17p13.1 Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NCBI36/hg18 17p13.1(chr17: 6853665-8107394)x4 copy number gain Likely pathogenic NCBI36 Chromosome 17, 6853665: 8107394
2 NC_000017.9: g.6996378_7152828del156451 deletion Pathogenic NCBI36 Chromosome 17, 6996378: 7152828
3 NC_000017.9: g.6936148_7177360del241213 deletion Pathogenic NCBI36 Chromosome 17, 6936148: 7177360
4 NC_000017.9: g.7033635_7977678del944044 deletion Pathogenic NCBI36 Chromosome 17, 7033635: 7977678
5 NC_000017.9: g.6838295_7991364del1153070 deletion Pathogenic NCBI36 Chromosome 17, 6838295: 7991364

Expression for Chromosome 17p13.1 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 17p13.1 Deletion Syndrome.

Pathways for Chromosome 17p13.1 Deletion Syndrome

GO Terms for Chromosome 17p13.1 Deletion Syndrome

Sources for Chromosome 17p13.1 Deletion Syndrome

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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