MCID: CHR381
MIFTS: 25

Chromosome 17q23.1-Q23.2 Deletion Syndrome

Categories: Rare diseases, Fetal diseases, Genetic 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 53 29 13 15 73
17q23.1-Q23.2 Microdeletion Syndrome 12 53 59
17q23.1q23.2 Microdeletion Syndrome 12 53 59
Monosomy 17q23.1-Q23.2 53 59
Monosomy 17q23.1q23.2 53 59
Del(17)(q23.1q23.2) 53 59

Characteristics:

Orphanet epidemiological data:

59
17q23.1q23.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
7 unrelated patients have been reported


HPO:

32
chromosome 17q23.1-q23.2 deletion syndrome:
Inheritance sporadic


Classifications:



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

NIH Rare Diseases : 53 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 17q23.1-q23.2 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 malar flattening and hypertelorism

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 9.0 PITX1 TBX4

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 occasional (7.5%) Occasional (29-5%) HP:0000272
2 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
4 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
5 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
6 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
7 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
8 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
9 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
10 chronic otitis media 59 32 occasional (7.5%) Occasional (29-5%) HP:0000389
11 widely spaced teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000687
12 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
13 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
14 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
15 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
16 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
17 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
18 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
19 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
20 pulmonary arterial hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0002092
21 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
22 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
23 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
24 limitation of joint mobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001376
25 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
26 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
27 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
28 blepharitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000498
29 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
30 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
31 sandal gap 59 32 occasional (7.5%) Occasional (29-5%) HP:0001852
32 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
33 bulbous nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000414
34 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
35 highly arched eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0002553
36 long eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000527
37 moderate global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011343
38 mild global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011342
39 shawl scrotum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000049
40 congenital contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0002803
41 patellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003065
42 bifid nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0011803
43 long fingers 59 32 hallmark (90%) Very frequent (99-80%) HP:0100807
44 shallow acetabular fossae 59 32 occasional (7.5%) Occasional (29-5%) HP:0003182
45 coxa magna 59 32 occasional (7.5%) Occasional (29-5%) HP:0003279
46 long toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010511
47 global developmental delay 32 HP:0001263
48 abnormal facial shape 32 HP:0001999
49 intellectual disability, mild 32 HP:0001256
50 postnatal growth retardation 32 HP:0008897

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:

41
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 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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