MCID: CHR501
MIFTS: 35

Chromosome 17q12 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 17q12 Deletion Syndrome

MalaCards integrated aliases for Chromosome 17q12 Deletion Syndrome:

Name: Chromosome 17q12 Deletion Syndrome 56 12 29 13 6 15 71
17q12 Microdeletion Syndrome 12 58
Monosomy 17q12 58
Del(17)(q12) 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

31
chromosome 17q12 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 17q12 Deletion Syndrome

MalaCards based summary : Chromosome 17q12 Deletion Syndrome, also known as 17q12 microdeletion syndrome, is related to diaphragmatic hernia, congenital and 17q12 recurrent deletion syndrome. An important gene associated with Chromosome 17q12 Deletion Syndrome is DEL17Q12 (Chromosome 17q12 Deletion Syndrome). Affiliated tissues include kidney, uterus and liver, and related phenotypes are multicystic kidney dysplasia and diabetes mellitus

More information from OMIM: 614527

Related Diseases for Chromosome 17q12 Deletion Syndrome

Diseases related to Chromosome 17q12 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 29.8 PIGW GGNBP2
2 17q12 recurrent deletion syndrome 11.5
3 oligohydramnios 10.2
4 polyhydramnios 10.2
5 multicystic dysplastic kidney 10.2
6 alagille syndrome 1 10.1
7 maturity-onset diabetes of the young 10.1
8 autism spectrum disorder 10.1
9 cholestasis 10.1
10 renal dysplasia 10.1
11 mayer-rokitansky-kuster-hauser syndrome 9.9 LHX1 HNF1B
12 renal hypoplasia 9.9 LHX1 HNF1B
13 cakut 9.8 LHX1 HNF1B
14 renal cysts and diabetes syndrome 9.6 LHX1 HNF1B GGNBP2

Graphical network of the top 20 diseases related to Chromosome 17q12 Deletion Syndrome:



Diseases related to Chromosome 17q12 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 17q12 Deletion Syndrome

Human phenotypes related to Chromosome 17q12 Deletion Syndrome:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000003
2 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
3 short stature 58 31 occasional (7.5%) Frequent (79-30%) HP:0004322
4 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
5 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
6 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
7 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
8 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
9 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
10 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
11 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
12 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
13 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
14 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
15 large fontanelles 58 31 occasional (7.5%) Occasional (29-5%) HP:0000239
16 shawl scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000049
17 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
18 language impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002463
19 ureterocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0000070
20 subcortical cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012157
21 pancreatic aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100801
22 scoliosis 31 occasional (7.5%) HP:0002650
23 high palate 31 occasional (7.5%) HP:0000218
24 mandibular prognathia 31 occasional (7.5%) HP:0000303
25 small nail 31 occasional (7.5%) HP:0001792
26 protruding ear 31 occasional (7.5%) HP:0000411
27 nail dystrophy 31 occasional (7.5%) HP:0008404
28 short palm 31 occasional (7.5%) HP:0004279
29 epicanthus 31 occasional (7.5%) HP:0000286
30 short foot 31 occasional (7.5%) HP:0001773
31 upper limb undergrowth 31 occasional (7.5%) HP:0009824
32 long toe 31 occasional (7.5%) HP:0010511
33 focal impaired awareness seizure 31 occasional (7.5%) HP:0002384
34 facial asymmetry 31 occasional (7.5%) HP:0000324
35 schizophrenia 31 occasional (7.5%) HP:0100753
36 urethral stenosis 31 occasional (7.5%) HP:0008661
37 horizontal nystagmus 31 occasional (7.5%) HP:0000666
38 long fingers 31 occasional (7.5%) HP:0100807
39 hypertrichosis 31 occasional (7.5%) HP:0000998
40 ovarian cyst 31 occasional (7.5%) HP:0000138
41 hyperconvex nail 31 occasional (7.5%) HP:0001795
42 abnormality of upper lip 31 occasional (7.5%) HP:0000177
43 bilateral sensorineural hearing impairment 31 occasional (7.5%) HP:0008619
44 hypermetropia 31 occasional (7.5%) HP:0000540
45 sparse and thin eyebrow 31 occasional (7.5%) HP:0000535
46 pica 31 occasional (7.5%) HP:0011856
47 malar flattening 31 HP:0000272
48 frontal bossing 31 HP:0002007
49 depressed nasal bridge 31 HP:0005280
50 delayed speech and language development 31 HP:0000750

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
malar flattening
frontal bossing
micrognathia
retrognathia
high forehead
more
Genitourinary Kidneys:
hydronephrosis
renal hypoplasia
unilateral renal agenesis
renal cysts
end-stage renal disease
more
Genitourinary Internal Genitalia Female:
unicornuate uterus
absent uterus
absent vagina
uterus didelphis
ovarian cysts, multiple (rare)

Skeletal Spine:
scoliosis (rare)

Neurologic Central Nervous System:
seizures (in some patients)
mental retardation, mild to moderate
speech delay
autism or autistic features
complex partial seizures (in some patients)

Skin Nails Hair Hair:
sparse eyebrows laterally (rare)
hypertrichosis of upper lip (rare)

Head And Neck Head:
dolicocephaly (in some patients)

Head And Neck Ears:
prominent earlobes (in some patients)
bilateral sensorineural hearing loss (in some patients)

Abdomen Pancreas:
pancreatic atrophy (in some patients)

Skeletal:
joint mobility increased (in some patients)
joint mobility decreased (rare)

Skeletal Hands:
long thin hands (rare)
long fingers (rare)
short hands (rare)

Skin Nails Hair Nails:
onychodystrophy (rare)
hyperconvex nails (rare)
nail hypoplasia, mild (rare)

Endocrine Features:
diabetes, maturity-onset, of the young (mody)

Head And Neck Nose:
depressed nasal bridge
tubular nose (in some patients)
deviation of nasal root (rare)

Genitourinary Ureters:
ureteral atresia

Head And Neck Eyes:
downslanting palpebral fissures
hypermetropia (in some patients)
epicanthal folds (in some patients)
sparse eyebrows laterally (rare)
high arched eyebrows
more
Growth Height:
short stature (in some patients)

Genitourinary Internal Genitalia Male:
cryptorchidism (rare)

Genitourinary Bladder:
hypoplastic bladder
thin bladder wall

Abdomen Liver:
elevated liver enzymes (in some patients)

Head And Neck Mouth:
high palate (in some patients)

Genitourinary:
genital tract abnormalities

Skeletal Limbs:
long slender arms and legs (rare)
short arms and legs (rare)

Skeletal Feet:
long thin feet (rare)
long toes (rare)
short feet (rare)

Neurologic Behavioral Psychiatric Manifestations:
schizophrenia (in some patients)

Clinical features from OMIM:

614527

GenomeRNAi Phenotypes related to Chromosome 17q12 Deletion Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.32 HNF1B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.32 DDX52
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.32 DDX52 HNF1B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.32 HNF1B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.32 HNF1B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.32 DDX52
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.32 HNF1B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.32 DDX52
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.32 HNF1B

Drugs & Therapeutics for Chromosome 17q12 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 17q12 Deletion Syndrome

Genetic Tests for Chromosome 17q12 Deletion Syndrome

Genetic tests related to Chromosome 17q12 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 17q12 Deletion Syndrome 29

Anatomical Context for Chromosome 17q12 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 17q12 Deletion Syndrome:

40
Kidney, Uterus, Liver, Pancreas, Testes

Publications for Chromosome 17q12 Deletion Syndrome

Articles related to Chromosome 17q12 Deletion Syndrome:

(show all 21)
# Title Authors PMID Year
1
17q12 Recurrent Deletion Syndrome 6
27929632 2016
2
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 56
21844811 2011
3
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. 56
21055719 2010
4
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. 56
20587423 2010
5
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. 56
19844256 2010
6
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. 56
19889212 2009
7
Genomic imbalances associated with mullerian aplasia. 56
18039948 2008
8
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. 56
17924346 2007
9
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. 56
16249435 2005
10
Clinical manifestations of a sporadic maturity-onset diabetes of the young (MODY) 5 with a whole deletion of HNF1B based on 17q12 microdeletion. 61
31391355 2019
11
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? 61
31498910 2019
12
[17q12 deletion as a possible cause of agenesis of the dorsal pancreas and polycystic kidney disease]. 61
31791446 2019
13
Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities. 61
31131025 2019
14
[Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities]. 61
29060963 2017
15
[Application of chromosome microarray analysis for fetuses with multicystic dysplastic kidney]. 61
27984599 2016
16
Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature. 61
26429400 2015
17
Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases. 61
26348998 2015
18
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. 61
25324567 2015
19
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. 61
25425496 2015
20
17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum. 61
22887843 2012
21
Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. 61
22178801 2012

Variations for Chromosome 17q12 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 17q12 Deletion Syndrome:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 28 genes: HNF1B NC_000017.10:g.(34360227_34437475)_(36214026_36473024)deldeletion Pathogenic 209211 17:34360227-36473024
2 subset of 15 genes: HNF1B NC_000017.10:g.(?_34815072)_(36192492_?)deldeletion Pathogenic 375218 17:34815072-36192492
3 subset of 15 genes: HNF1B GRCh37/hg19 17q12(chr17:34819191-36194230)copy number loss Pathogenic 625689 17:34819191-36194230

Expression for Chromosome 17q12 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 17q12 Deletion Syndrome.

Pathways for Chromosome 17q12 Deletion Syndrome

GO Terms for Chromosome 17q12 Deletion Syndrome

Biological processes related to Chromosome 17q12 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 9.4 LHX1 HNF1B
2 kidney development GO:0001822 9.37 LHX1 HNF1B
3 endoderm development GO:0007492 9.32 LHX1 HNF1B
4 epithelium development GO:0060429 9.26 LHX1 HNF1B
5 mesonephric tubule development GO:0072164 9.16 LHX1 HNF1B
6 mesonephric duct development GO:0072177 8.96 LHX1 HNF1B
7 pronephros development GO:0048793 8.62 LHX1 HNF1B

Sources for Chromosome 17q12 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....