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 58 12 30 13 6 15 74
17q12 Microdeletion Syndrome 12 60
Monosomy 17q12 60
Del(17)(q12) 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

33
chromosome 17q12 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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 diaphragmatic hernia, congenital. An important gene associated with Chromosome 17q12 Deletion Syndrome is DEL17Q12 (Chromosome 17q12 Deletion Syndrome), and among its related pathways/superpathways is Fatty acid metabolism. Affiliated tissues include kidney, uterus and liver, and related phenotypes are multicystic kidney dysplasia and diabetes mellitus

Description 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:

# Related Disease Score Top Affiliating Genes
1 17q12 deletion syndrome 11.5
2 diaphragmatic hernia, congenital 10.3
3 mayer-rokitansky-kuster-hauser syndrome 10.0 HNF1B LHX1

Symptoms & Phenotypes for Chromosome 17q12 Deletion Syndrome

Human phenotypes related to Chromosome 17q12 Deletion Syndrome:

60 33 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000003
2 diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0000819
3 short stature 60 33 occasional (7.5%) Frequent (79-30%) HP:0004322
4 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
5 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
6 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
7 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
8 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
9 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
10 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
11 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
12 elevated hepatic transaminase 60 33 occasional (7.5%) Occasional (29-5%) HP:0002910
13 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
14 large fontanelles 60 33 occasional (7.5%) Occasional (29-5%) HP:0000239
15 oligohydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001562
16 shawl scrotum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000049
17 cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002059
18 language impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002463
19 ureterocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0000070
20 subcortical cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0012157
21 pancreatic aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100801
22 high palate 33 occasional (7.5%) HP:0000218
23 scoliosis 33 occasional (7.5%) HP:0002650
24 mandibular prognathia 33 occasional (7.5%) HP:0000303
25 nail dystrophy 33 occasional (7.5%) HP:0008404
26 short palm 33 occasional (7.5%) HP:0004279
27 epicanthus 33 occasional (7.5%) HP:0000286
28 short foot 33 occasional (7.5%) HP:0001773
29 upper limb undergrowth 33 occasional (7.5%) HP:0009824
30 protruding ear 33 occasional (7.5%) HP:0000411
31 small nail 33 occasional (7.5%) HP:0001792
32 focal impaired awareness seizure 33 occasional (7.5%) HP:0002384
33 schizophrenia 33 occasional (7.5%) HP:0100753
34 urethral stenosis 33 occasional (7.5%) HP:0008661
35 horizontal nystagmus 33 occasional (7.5%) HP:0000666
36 facial asymmetry 33 occasional (7.5%) HP:0000324
37 long fingers 33 occasional (7.5%) HP:0100807
38 ovarian cyst 33 occasional (7.5%) HP:0000138
39 hyperconvex nail 33 occasional (7.5%) HP:0001795
40 long toe 33 occasional (7.5%) HP:0010511
41 abnormality of upper lip 33 occasional (7.5%) HP:0000177
42 bilateral sensorineural hearing impairment 33 occasional (7.5%) HP:0008619
43 hypermetropia 33 occasional (7.5%) HP:0000540
44 hypertrichosis 33 occasional (7.5%) HP:0000998
45 sparse and thin eyebrow 33 occasional (7.5%) HP:0000535
46 pica 33 occasional (7.5%) HP:0011856
47 malar flattening 33 HP:0000272
48 frontal bossing 33 HP:0002007
49 depressed nasal bridge 33 HP:0005280
50 delayed speech and language development 33 HP:0000750

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
malar flattening
frontal bossing
micrognathia
retrognathia
high forehead
more
Genitourinary Kidneys:
renal hypoplasia
hydronephrosis
unilateral renal agenesis
renal cysts
end-stage renal disease
more
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)

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

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)

Genitourinary Internal Genitalia Female:
absent uterus
unicornuate uterus
absent vagina
uterus didelphis
ovarian cysts, multiple (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 30

Anatomical Context for Chromosome 17q12 Deletion Syndrome

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

42
Kidney, Uterus, Liver, Testes

Publications for Chromosome 17q12 Deletion Syndrome

Articles related to Chromosome 17q12 Deletion Syndrome:

# Title Authors Year
1
[Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities]. ( 29060963 )
2017
2
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. ( 25324567 )
2015
3
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. ( 26429400 )
2015
4
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. ( 25425496 )
2015
5
Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases. ( 26348998 )
2015
6
17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum. ( 22887843 )
2012
7
Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. ( 22178801 )
2012

Variations for Chromosome 17q12 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 17q12 Deletion Syndrome:

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 ACACA CYP4A11 CYP4A22

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

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 FKBP10 FKBP6

Sources for Chromosome 17q12 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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