MCID: CHR381
MIFTS: 34

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 57 12 20 29 13 15 70
17q23.1q23.2 Microdeletion Syndrome 12 20 58
17q23.1-Q23.2 Microdeletion Syndrome 12 20
Monosomy 17q23.1q23.2 20 58
Del(17)(q23.1q23.2) 20 58
Monosomy 17q23.1-Q23.2 20

Characteristics:

Orphanet epidemiological data:

58
17q23.1q23.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
isolated cases

Miscellaneous:
7 unrelated patients have been reported


HPO:

31
chromosome 17q23.1-q23.2 deletion syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


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

GARD : 20 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 progressive myoclonus epilepsy 1b and holoprosencephaly 2. 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 thyroid, and related phenotypes are delayed speech and language development and moderate global developmental delay

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

More information 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 progressive myoclonus epilepsy 1b 10.1 PRICKLE1 DISP1
2 holoprosencephaly 2 10.1 PRICKLE1 DISP1
3 holoprosencephaly 5 10.1 PRICKLE1 DISP1
4 ulnar-mammary syndrome 10.0 TBX4 TBX2
5 vertical talus, congenital 10.0 TBX4 PITX1
6 holt-oram syndrome 9.9 TBX4 TBX2
7 salmonellosis 9.5 TLR5 DEFB1

Graphical network of the top 20 diseases related to Chromosome 17q23.1-Q23.2 Deletion Syndrome:



Diseases related to Chromosome 17q23.1-Q23.2 Deletion Syndrome

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

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

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
2 moderate global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011343
3 mild global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011342
4 long fingers 58 31 hallmark (90%) Very frequent (99-80%) HP:0100807
5 long toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010511
6 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
7 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
10 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
11 pulmonary arterial hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0002092
12 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
13 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
14 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
15 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
16 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
17 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
18 chronic otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000389
19 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
20 widely spaced teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000687
21 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
22 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
23 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
24 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
25 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
26 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
27 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
28 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
29 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
30 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
31 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
32 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
33 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
34 malar flattening 58 31 occasional (7.5%) Occasional (29-5%) HP:0000272
35 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
36 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
37 blepharitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000498
38 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376
39 long eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000527
40 shawl scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000049
41 patellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003065
42 congenital contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0002803
43 bifid nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0011803
44 shallow acetabular fossae 58 31 occasional (7.5%) Occasional (29-5%) HP:0003182
45 coxa magna 58 31 occasional (7.5%) Occasional (29-5%) HP:0003279
46 hypotonia 31 occasional (7.5%) HP:0001252
47 hypertension 31 HP:0000822
48 muscular hypotonia 58 Occasional (29-5%)
49 global developmental delay 31 HP:0001263
50 abnormal facial shape 31 HP:0001999

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve

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

Growth Other:
postnatal growth retardation

Cardiovascular Vascular:
patent ductus arteriosus
pulmonary hypertension

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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Chromosome 17q23.1-Q23.2 Deletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.43 DISP1 PITX1 PRICKLE1 SLC22A1 TBX2 TLR5
2 limbs/digits/tail MP:0005371 9.02 DISP1 PITX1 PRICKLE1 TBX2 TBX4

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 29

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

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

40
Heart, Thyroid

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

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

# Title Authors PMID Year
1
Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4. 57 61
20598276 2010
2
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension. 57
31151956 2019
3
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing. 57
30828993 2019
4
Neonatal Lung Disease Associated with TBX4 Mutations. 57
30413314 2019
5
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. 57
30639323 2019
6
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. 57
23592887 2013
7
Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension. 57
21271665 2011
8
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. 57
20206336 2010

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

Biological processes related to Chromosome 17q23.1-Q23.2 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell fate specification GO:0001708 8.96 TBX4 TBX2
2 embryonic hindlimb morphogenesis GO:0035116 8.62 TBX4 PITX1

Molecular functions related to Chromosome 17q23.1-Q23.2 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 8.8 TBC1D10C MYO9A ARHGAP32

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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