MCID: CHR381
MIFTS: 30

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 54 12 50 29 13 14 69
17q23.1-Q23.2 Microdeletion Syndrome 12 50 56
17q23.1q23.2 Microdeletion Syndrome 12 50 56
Monosomy 17q23.1-Q23.2 50 56
Monosomy 17q23.1q23.2 50 56
Del(17)(q23.1q23.2) 50 56

Characteristics:

Orphanet epidemiological data:

56
17q23.1q23.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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 : 50 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 nephrotic syndrome and chromosome 17q23.1-q23.2 duplication syndrome, and has symptoms including short stature, failure to thrive and scoliosis. 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 embryo and limbs/digits/tail

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:

id Related Disease Score Top Affiliating Genes
1 nephrotic syndrome 9.7 PITX1 TBX4
2 chromosome 17q23.1-q23.2 duplication syndrome 8.0 DEL17Q23.1Q23.2 PITX1 TBX2 TBX4

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

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Head:
microcephaly

Cardiovascular- Vascular:
patent ductus arteriosus
pulmonary hypertension

Growth- Weight:
low birth weight

Head And Neck- Ears:
hearing loss (2 patients)

Neurologic- Central Nervous System:
developmental delay, mild to moderate

Skeletal:
ossification defects (2 patients)

Cardiovascular- Heart:
atrial septal defect
bicuspid aortic valve

Skeletal- Hands:
long fingers
thin fingers

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

Growth- Other:
postnatal growth retardation

Head And Neck- Face:
facial dysmorphism, mild, variable

Neurologic- Behavioral Psychiatric Manifestations:
aggressive behavior (2 patients)


Clinical features from OMIM:

613355

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

56 32 (show top 50) (show all 57)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 failure to thrive 56 32 occasional (7.5%) Occasional (29-5%) HP:0001508
3 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
4 long eyelashes 56 32 occasional (7.5%) Occasional (29-5%) HP:0000527
5 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
6 bulbous nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0000414
7 hyperreflexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001347
8 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
9 depressed nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0005280
10 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
11 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
12 patent ductus arteriosus 56 32 frequent (33%) Frequent (79-30%) HP:0001643
13 frontal bossing 56 32 frequent (33%) Frequent (79-30%) HP:0002007
14 gastroesophageal reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0002020
15 shawl scrotum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000049
16 long fingers 56 32 hallmark (90%) Very frequent (99-80%) HP:0100807
17 dyspnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002094
18 pes planus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001763
19 widely spaced teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000687
20 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
21 sandal gap 56 32 occasional (7.5%) Occasional (29-5%) HP:0001852
22 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
23 malar flattening 56 32 occasional (7.5%) Occasional (29-5%) HP:0000272
24 shallow acetabular fossae 56 32 occasional (7.5%) Occasional (29-5%) HP:0003182
25 blepharitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000498
26 sacral dimple 56 32 occasional (7.5%) Occasional (29-5%) HP:0000960
27 bifid nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0011803
28 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
29 chronic otitis media 56 32 occasional (7.5%) Occasional (29-5%) HP:0000389
30 coxa magna 56 32 occasional (7.5%) Occasional (29-5%) HP:0003279
31 delayed speech and language development 56 32 hallmark (90%) Very frequent (99-80%) HP:0000750
32 narrow mouth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000160
33 mild global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0011342
34 patellar hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003065
35 bilateral single transverse palmar creases 56 32 occasional (7.5%) Occasional (29-5%) HP:0007598
36 abnormality of epiphysis morphology 56 32 occasional (7.5%) Occasional (29-5%) HP:0005930
37 behavioral abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0000708
38 limitation of joint mobility 56 32 occasional (7.5%) Occasional (29-5%) HP:0001376
39 protruding ear 56 32 occasional (7.5%) Occasional (29-5%) HP:0000411
40 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
41 highly arched eyebrow 56 32 occasional (7.5%) Occasional (29-5%) HP:0002553
42 moderate global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0011343
43 congenital contracture 56 32 occasional (7.5%) Occasional (29-5%) HP:0002803
44 long toe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010511
45 atrial septal defect 32 occasional (7.5%) HP:0001631
46 global developmental delay 32 HP:0001263
47 talipes equinovarus 32 HP:0001762
48 aggressive behavior 32 HP:0000718
49 intellectual disability, mild 32 HP:0001256
50 pulmonary hypertension 56 Frequent (79-30%)

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.13 PITX1 TBX2 TBX4
2 limbs/digits/tail MP:0005371 8.8 PITX1 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:

id 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:

39
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

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.62 PITX1 TBX2

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

id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.8 PITX1 TBX2 TBX4

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 8.96 PITX1 TBX2
2 transcription factor activity, sequence-specific DNA binding GO:0003700 8.8 PITX1 TBX2 TBX4

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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