MCID: CHR457
MIFTS: 25

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 56 12 52 29 13 6 71
Distal 17p13.1 Microdeletion Syndrome 52 58
Distal Del(17)(p13.1) 52 58
Classical Lissencephalies and Subcortical Band Heterotopias 43
17p13.1 Deletion Syndrome 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
chromosome 17p13.1 deletion syndrome:
Inheritance autosomal dominant inheritance contiguous gene syndrome


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 17p13.1 Deletion Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 319171 Definition Distal 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). Affiliated tissues include eye, bone and testes, and related phenotypes are microcephaly and retrognathia

More information 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:

58 31 (showing 48, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
2 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
3 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
4 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
5 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
6 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
7 moderate global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011343
8 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
9 overbite 58 31 frequent (33%) Frequent (79-30%) HP:0011094
10 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
11 narrow forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000341
12 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
13 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
14 hypoplasia of the zygomatic bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0010669
15 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
16 limited elbow movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0002996
17 flat occiput 58 31 occasional (7.5%) Occasional (29-5%) HP:0005469
18 abnormal hand morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005922
19 eeg with spike-wave complexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0010850
20 generalized joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002761
21 unilateral polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0006927
22 limitation of knee mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0010501
23 webbed neck 31 occasional (7.5%) HP:0000465
24 short neck 31 HP:0000470
25 hydrocephalus 31 HP:0000238
26 sleep disturbance 31 HP:0002360
27 global developmental delay 31 HP:0001263
28 abnormal facial shape 58 Frequent (79-30%)
29 feeding difficulties 31 HP:0011968
30 downslanted palpebral fissures 31 HP:0000494
31 anteverted nares 31 HP:0000463
32 generalized hypotonia 31 HP:0001290
33 highly arched eyebrow 31 HP:0002553
34 strabismus 31 HP:0000486
35 short palm 31 HP:0004279
36 epicanthus 31 HP:0000286
37 short foot 31 HP:0001773
38 inverted nipples 31 HP:0003186
39 elbow flexion contracture 31 HP:0002987
40 joint laxity 31 HP:0001388
41 short chin 31 HP:0000331
42 high forehead 31 HP:0000348
43 proximal placement of thumb 31 HP:0009623
44 ankle clonus 31 HP:0011448
45 knee flexion contracture 31 HP:0006380
46 long hallux 31 HP:0001847
47 hyperactive deep tendon reflexes 31 HP:0006801
48 broad hallux 31 HP:0010055

Symptoms via clinical synopsis from OMIM:

56
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 29

Anatomical Context for Chromosome 17p13.1 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 17p13.1 Deletion Syndrome:

40
Eye, Bone, Testes

Publications for Chromosome 17p13.1 Deletion Syndrome

Articles related to Chromosome 17p13.1 Deletion Syndrome:

(showing 4, show less)
# Title Authors PMID Year
1
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. 56
21056402 2010
2
17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor. 56
20425836 2010
3
Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing. 56
19269943 2009
4
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. 56
19617690 2009

Variations for Chromosome 17p13.1 Deletion Syndrome

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

6 (showing 5, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 deletion Pathogenic 224826
2 deletion Pathogenic 224827
3 deletion Pathogenic 224828
4 deletion Pathogenic 224829
5 NCBI36/hg18 17p13.1(chr17:6853665-8107394)x4copy number gain Likely pathogenic 224825

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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