MCID: CHR501
MIFTS: 34

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 57 12 29 13 6 15 72
17q12 Microdeletion Syndrome 12 59
Monosomy 17q12 59
Del(17)(q12) 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

32
chromosome 17q12 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060404
OMIM 57 614527
ICD10 33 Q93.5
ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA261265
MedGen 42 C3281138
UMLS 72 C3281138

Summaries for Chromosome 17q12 Deletion Syndrome

MalaCards based summary : Chromosome 17q12 Deletion Syndrome, also known as 17q12 microdeletion syndrome, is related to 17q12 deletion syndrome 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 13)
# Related Disease Score Top Affiliating Genes
1 17q12 deletion syndrome 11.6
2 17q12 recurrent deletion syndrome 10.5
3 diaphragmatic hernia, congenital 10.3
4 oligohydramnios 10.2
5 polyhydramnios 10.2
6 mullerian aplasia 10.2
7 multicystic dysplastic kidney 10.2
8 alagille syndrome 1 10.1
9 maturity-onset diabetes of the young 10.1
10 autism spectrum disorder 10.1
11 cholestasis 10.1
12 renal dysplasia 10.1
13 mayer-rokitansky-kuster-hauser syndrome 10.1 LHX1 HNF1B

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:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000003
2 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
3 short stature 59 32 occasional (7.5%) Frequent (79-30%) HP:0004322
4 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
7 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
8 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
9 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
10 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
11 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
12 elevated hepatic transaminase 59 32 occasional (7.5%) Occasional (29-5%) HP:0002910
13 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
14 large fontanelles 59 32 occasional (7.5%) Occasional (29-5%) HP:0000239
15 oligohydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001562
16 shawl scrotum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000049
17 cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002059
18 language impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002463
19 ureterocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0000070
20 subcortical cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0012157
21 pancreatic aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100801
22 high palate 32 occasional (7.5%) HP:0000218
23 scoliosis 32 occasional (7.5%) HP:0002650
24 mandibular prognathia 32 occasional (7.5%) HP:0000303
25 protruding ear 32 occasional (7.5%) HP:0000411
26 nail dystrophy 32 occasional (7.5%) HP:0008404
27 short palm 32 occasional (7.5%) HP:0004279
28 epicanthus 32 occasional (7.5%) HP:0000286
29 short foot 32 occasional (7.5%) HP:0001773
30 upper limb undergrowth 32 occasional (7.5%) HP:0009824
31 small nail 32 occasional (7.5%) HP:0001792
32 focal impaired awareness seizure 32 occasional (7.5%) HP:0002384
33 facial asymmetry 32 occasional (7.5%) HP:0000324
34 schizophrenia 32 occasional (7.5%) HP:0100753
35 urethral stenosis 32 occasional (7.5%) HP:0008661
36 horizontal nystagmus 32 occasional (7.5%) HP:0000666
37 long fingers 32 occasional (7.5%) HP:0100807
38 hypertrichosis 32 occasional (7.5%) HP:0000998
39 ovarian cyst 32 occasional (7.5%) HP:0000138
40 hyperconvex nail 32 occasional (7.5%) HP:0001795
41 long toe 32 occasional (7.5%) HP:0010511
42 abnormality of upper lip 32 occasional (7.5%) HP:0000177
43 bilateral sensorineural hearing impairment 32 occasional (7.5%) HP:0008619
44 hypermetropia 32 occasional (7.5%) HP:0000540
45 sparse and thin eyebrow 32 occasional (7.5%) HP:0000535
46 pica 32 occasional (7.5%) HP:0011856
47 malar flattening 32 HP:0000272
48 frontal bossing 32 HP:0002007
49 depressed nasal bridge 32 HP:0005280
50 delayed speech and language development 32 HP:0000750

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
Kidney, Uterus, Liver, Testes

Publications for Chromosome 17q12 Deletion Syndrome

Articles related to Chromosome 17q12 Deletion Syndrome:

(show all 19)
# Title Authors PMID Year
1
17q12 Recurrent Deletion Syndrome 71
27929632 2016
2
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 8
21844811 2011
3
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. 8
21055719 2010
4
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. 8
20587423 2010
5
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. 8
19844256 2010
6
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. 8
19889212 2009
7
Genomic imbalances associated with mullerian aplasia. 8
18039948 2008
8
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. 8
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. 8
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. 38
31391355 2019
11
Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities. 38
31131025 2019
12
[Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities]. 38
29060963 2017
13
[Application of chromosome microarray analysis for fetuses with multicystic dysplastic kidney]. 38
27984599 2016
14
Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases. 38
26348998 2015
15
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. 38
26429400 2015
16
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. 38
25324567 2015
17
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. 38
25425496 2015
18
17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum. 38
22887843 2012
19
Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. 38
22178801 2012

Variations for Chromosome 17q12 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 17q12 Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 subset of 28 genes:HNF1B NC_000017.10 deletion Pathogenic 17:34360227-36473024 :0-0
2 subset of 15 genes:HNF1B GRCh37/hg19 17q12(chr17: 34819191-36194230) copy number loss Pathogenic 17:34819191-36194230 :0-0
3 subset of 15 genes:HNF1B NC_000017.10: g.(?_34815072)_(36192492_?)del deletion Pathogenic 17:34815072-36192492 :0-0

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 protein peptidyl-prolyl isomerization GO:0000413 9.37 FKBP6 FKBP10
2 omega-hydroxylase P450 pathway GO:0097267 9.32 CYP4A22 CYP4A11
3 epithelium development GO:0060429 9.26 LHX1 HNF1B
4 mesonephric tubule development GO:0072164 9.16 LHX1 HNF1B
5 pronephros development GO:0048793 8.96 LHX1 HNF1B
6 mesonephric duct development GO:0072177 8.62 LHX1 HNF1B

Molecular functions related to Chromosome 17q12 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 FK506 binding GO:0005528 8.62 FKBP6 FKBP10

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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