MCID: CHR381
MIFTS: 24

Chromosome 17q23.1-Q23.2 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 17q23.1-Q23.2 Deletion Syndrome

MalaCards integrated aliases for Chromosome 17q23.1-Q23.2 Deletion Syndrome:

Name: Chromosome 17q23.1-Q23.2 Deletion Syndrome 58 12 54 30 13 15 74
17q23.1q23.2 Microdeletion Syndrome 12 54 60
17q23.1-Q23.2 Microdeletion Syndrome 12 54
Monosomy 17q23.1q23.2 54 60
Del(17)(q23.1q23.2) 54 60
Monosomy 17q23.1-Q23.2 54

Characteristics:

Orphanet epidemiological data:

60
17q23.1q23.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
isolated cases

Miscellaneous:
7 unrelated patients have been reported


HPO:

33
chromosome 17q23.1-q23.2 deletion syndrome:
Inheritance sporadic


Classifications:



Summaries for Chromosome 17q23.1-Q23.2 Deletion Syndrome

NIH Rare Diseases : 54 17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb in size and include the transcription factor genes TBX2 and TBX4 which have been implicated in a number of developmental pathways, including those of the heart and limbs.

MalaCards based summary : Chromosome 17q23.1-Q23.2 Deletion Syndrome, also known as 17q23.1q23.2 microdeletion syndrome, is related to clubfoot. An important gene associated with Chromosome 17q23.1-Q23.2 Deletion Syndrome is DEL17Q23.1Q23.2 (Chromosome 17q23.1-Q23.2 Deletion Syndrome). Affiliated tissues include heart, and related phenotypes are delayed speech and language development and moderate global developmental delay

Description from OMIM: 613355

Related Diseases for Chromosome 17q23.1-Q23.2 Deletion Syndrome

Diseases related to Chromosome 17q23.1-Q23.2 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 clubfoot 9.5 PITX1 TBX4

Symptoms & Phenotypes for Chromosome 17q23.1-Q23.2 Deletion Syndrome

Human phenotypes related to Chromosome 17q23.1-Q23.2 Deletion Syndrome:

60 33 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
2 moderate global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011343
3 mild global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011342
4 long fingers 60 33 hallmark (90%) Very frequent (99-80%) HP:0100807
5 long toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010511
6 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
7 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
8 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
9 pulmonary arterial hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0002092
10 patent ductus arteriosus 60 33 frequent (33%) Frequent (79-30%) HP:0001643
11 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
12 malar flattening 60 33 occasional (7.5%) Occasional (29-5%) HP:0000272
13 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
14 abnormality of epiphysis morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0005930
15 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
16 hyperreflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001347
17 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
18 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
19 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
20 chronic otitis media 60 33 occasional (7.5%) Occasional (29-5%) HP:0000389
21 widely spaced teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000687
22 behavioral abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0000708
23 depressed nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005280
24 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
25 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
26 dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002094
27 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
28 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
29 limitation of joint mobility 60 33 occasional (7.5%) Occasional (29-5%) HP:0001376
30 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
31 protruding ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000411
32 blepharitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000498
33 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
34 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
35 sandal gap 60 33 occasional (7.5%) Occasional (29-5%) HP:0001852
36 bilateral single transverse palmar creases 60 33 occasional (7.5%) Occasional (29-5%) HP:0007598
37 bulbous nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0000414
38 sacral dimple 60 33 occasional (7.5%) Occasional (29-5%) HP:0000960
39 highly arched eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0002553
40 long eyelashes 60 33 occasional (7.5%) Occasional (29-5%) HP:0000527
41 shawl scrotum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000049
42 congenital contracture 60 33 occasional (7.5%) Occasional (29-5%) HP:0002803
43 patellar hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003065
44 bifid nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0011803
45 shallow acetabular fossae 60 33 occasional (7.5%) Occasional (29-5%) HP:0003182
46 coxa magna 60 33 occasional (7.5%) Occasional (29-5%) HP:0003279
47 hypertension 33 HP:0000822
48 global developmental delay 33 HP:0001263
49 abnormal facial shape 33 HP:0001999
50 intellectual disability, mild 33 HP:0001256

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly

Growth Other:
postnatal growth retardation

Skeletal Hands:
long fingers
thin fingers

Skeletal Feet:
long toes
clubfoot (in 2 sibs)
thin toes

Head And Neck Ears:
hearing loss (2 patients)

Neurologic Central Nervous System:
developmental delay, mild to moderate

Cardiovascular Vascular:
patent ductus arteriosus
pulmonary hypertension

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve

Growth Weight:
low birth weight

Head And Neck Face:
facial dysmorphism, mild, variable

Skeletal:
ossification defects (2 patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (2 patients)

Clinical features from OMIM:

613355

Drugs & Therapeutics for Chromosome 17q23.1-Q23.2 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 17q23.1-Q23.2 Deletion Syndrome

Genetic Tests for Chromosome 17q23.1-Q23.2 Deletion Syndrome

Genetic tests related to Chromosome 17q23.1-Q23.2 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 17q23.1-Q23.2 Deletion Syndrome 30

Anatomical Context for Chromosome 17q23.1-Q23.2 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 17q23.1-Q23.2 Deletion Syndrome:

42
Heart

Publications for Chromosome 17q23.1-Q23.2 Deletion Syndrome

Variations for Chromosome 17q23.1-Q23.2 Deletion Syndrome

Expression for Chromosome 17q23.1-Q23.2 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 17q23.1-Q23.2 Deletion Syndrome.

Pathways for Chromosome 17q23.1-Q23.2 Deletion Syndrome

GO Terms for Chromosome 17q23.1-Q23.2 Deletion Syndrome

Sources for Chromosome 17q23.1-Q23.2 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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