MCID: CHR501
MIFTS: 34

Chromosome 17q12 Deletion Syndrome

Categories: Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Chromosome 17q12 Deletion Syndrome

MalaCards integrated aliases for Chromosome 17q12 Deletion Syndrome:

Name: Chromosome 17q12 Deletion Syndrome 53 12 28 13 14 69
17q12 Microdeletion Syndrome 12 55
Monosomy 17q12 55
Del(17)(q12) 55

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

31
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 mayer-rokitansky-kuster-hauser syndrome, and has symptoms including seizures, diabetes mellitus and intellectual disability. An important gene associated with Chromosome 17q12 Deletion Syndrome is DEL17Q12 (Chromosome 17q12 Deletion Syndrome). Affiliated tissues include kidney, uterus and liver.

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 11.3
2 mayer-rokitansky-kuster-hauser syndrome 10.0 HNF1B LHX1

Symptoms & Phenotypes for Chromosome 17q12 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Chromosome 17q12 Deletion Syndrome:

55 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 diabetes mellitus 55 31 frequent (33%) Frequent (79-30%) HP:0000819
3 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
4 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
5 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
6 short stature 55 31 occasional (7.5%) Frequent (79-30%) HP:0004322
7 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
8 feeding difficulties 55 31 occasional (7.5%) Occasional (29-5%) HP:0011968
9 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
10 autism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000717
11 elevated hepatic transaminases 55 31 occasional (7.5%) Occasional (29-5%) HP:0002910
12 renal hypoplasia/aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008678
13 multicystic kidney dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000003
14 large fontanelles 55 31 occasional (7.5%) Occasional (29-5%) HP:0000239
15 oligohydramnios 55 31 occasional (7.5%) Occasional (29-5%) HP:0001562
16 shawl scrotum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000049
17 cerebral atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002059
18 language impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0002463
19 ureterocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0000070
20 subcortical cerebral atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0012157
21 pancreatic aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100801
22 malar flattening 31 HP:0000272
23 frontal bossing 31 HP:0002007
24 high palate 31 occasional (7.5%) HP:0000218
25 scoliosis 31 occasional (7.5%) HP:0002650
26 mandibular prognathia 31 occasional (7.5%) HP:0000303
27 depressed nasal bridge 31 HP:0005280
28 delayed speech and language development 31 HP:0000750
29 micrognathia 31 HP:0000347
30 nail dystrophy 31 occasional (7.5%) HP:0008404
31 retrognathia 31 HP:0000278
32 short palm 31 occasional (7.5%) HP:0004279
33 epicanthus 31 occasional (7.5%) HP:0000286
34 short foot 31 occasional (7.5%) HP:0001773
35 upper limb undergrowth 31 occasional (7.5%) HP:0009824
36 protruding ear 31 occasional (7.5%) HP:0000411
37 small nail 31 occasional (7.5%) HP:0001792
38 downslanted palpebral fissures 31 HP:0000494
39 renal hypoplasia 31 HP:0000089
40 schizophrenia 31 occasional (7.5%) HP:0100753
41 recurrent urinary tract infections 31 HP:0000010
42 high forehead 31 HP:0000348
43 urethral stenosis 31 occasional (7.5%) HP:0008661
44 highly arched eyebrow 31 HP:0002553
45 facial asymmetry 31 occasional (7.5%) HP:0000324
46 hydronephrosis 31 HP:0000126
47 focal seizures with impairment of consciousness or awareness 31 occasional (7.5%) HP:0002384
48 unilateral renal agenesis 31 HP:0000122
49 aplasia of the uterus 31 HP:0000151
50 stage 5 chronic kidney disease 31 HP:0003774

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 28

Anatomical Context for Chromosome 17q12 Deletion Syndrome

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

38
Kidney, Uterus, Liver

Publications for Chromosome 17q12 Deletion Syndrome

Articles related to Chromosome 17q12 Deletion Syndrome:

# Title Authors Year
1
Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with antenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature. ( 26429400 )
2015
2
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. ( 25425496 )
2015
3
Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases. ( 26348998 )
2015
4
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. ( 25324567 )
2014
5
Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. ( 22178801 )
2012
6
17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum. ( 22887843 )
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

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 epithelium development GO:0060429 9.26 HNF1B LHX1
2 mesonephric tubule development GO:0072164 9.16 HNF1B LHX1
3 pronephros development GO:0048793 8.96 HNF1B LHX1
4 mesonephric duct development GO:0072177 8.62 HNF1B LHX1

Sources for Chromosome 17q12 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
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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