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 53 12 49 28 13 14 69
17q23.1-Q23.2 Microdeletion Syndrome 12 49 55
17q23.1q23.2 Microdeletion Syndrome 12 49 55
Monosomy 17q23.1-Q23.2 49 55
Monosomy 17q23.1q23.2 49 55
Del(17)(q23.1q23.2) 49 55

Characteristics:

Orphanet epidemiological data:

55
17q23.1q23.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
isolated cases

Miscellaneous:
7 unrelated patients have been reported


HPO:

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


Classifications:



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

NIH Rare Diseases : 49 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. Last updated: 1/3/2013

MalaCards based summary : Chromosome 17q23.1-Q23.2 Deletion Syndrome, also known as 17q23.1-q23.2 microdeletion syndrome, is related to clubfoot, and has symptoms including dyspnea, malar flattening and hypertelorism. 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.

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 9.4 PITX1 TBX4

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

Symptoms via clinical synopsis from OMIM:

53
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:

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

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

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

38
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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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29 HGMD
30 HMDB
31 HPO
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33 ICD10 via Orphanet
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42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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