MCID: CHR457
MIFTS: 19

Chromosome 17p13.1 Deletion Syndrome

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

Aliases & Classifications for Chromosome 17p13.1 Deletion Syndrome

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

Name: Chromosome 17p13.1 Deletion Syndrome 58 12 54 30 13 6 74
Distal 17p13.1 Microdeletion Syndrome 54 60
Distal Del(17)(p13.1) 54 60
Classical Lissencephalies and Subcortical Band Heterotopias 45
17p13.1 Deletion Syndrome 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
chromosome 17p13.1 deletion syndrome:
Inheritance contiguous gene syndrome autosomal dominant inheritance


Classifications:



Summaries for Chromosome 17p13.1 Deletion Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 319171Disease definitionDistal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.Visit the Orphanet disease page for more resources.

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 webbed neck and short neck

Description from OMIM: 613776

Related Diseases for Chromosome 17p13.1 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 17p13.1 Deletion Syndrome

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

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 webbed neck 33 occasional (7.5%) HP:0000465
2 short neck 33 HP:0000470
3 high palate 33 HP:0000218
4 hydrocephalus 33 HP:0000238
5 sleep disturbance 33 HP:0002360
6 global developmental delay 33 HP:0001263
7 anteverted nares 33 HP:0000463
8 feeding difficulties 33 HP:0011968
9 strabismus 33 HP:0000486
10 short palm 33 HP:0004279
11 epicanthus 33 HP:0000286
12 short foot 33 HP:0001773
13 inverted nipples 33 HP:0003186
14 elbow flexion contracture 33 HP:0002987
15 joint laxity 33 HP:0001388
16 prominent nasal bridge 33 HP:0000426
17 downslanted palpebral fissures 33 HP:0000494
18 high forehead 33 HP:0000348
19 highly arched eyebrow 33 HP:0002553
20 proximal placement of thumb 33 HP:0009623
21 generalized hypotonia 33 HP:0001290
22 ankle clonus 33 HP:0011448
23 knee flexion contracture 33 HP:0006380
24 long hallux 33 HP:0001847
25 hyperactive deep tendon reflexes 33 HP:0006801
26 short chin 33 HP:0000331
27 broad hallux 33 HP:0010055

Symptoms via clinical synopsis from OMIM:

58
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:
knee contractures
elbow 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

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 30

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

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 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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