MCID: CHR501
MIFTS: 26

Chromosome 17q12 Deletion Syndrome malady

Categories: Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Chromosome 17q12 Deletion Syndrome

Aliases & Descriptions for Chromosome 17q12 Deletion Syndrome:

Name: Chromosome 17q12 Deletion Syndrome 54 12 29 13 14 69
17q12 Microdeletion Syndrome 12 56
Monosomy 17q12 56
Del(17)(q12) 56

Characteristics:

HPO:

32
chromosome 17q12 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614527
Disease Ontology 12 DOID:0060404
ICD10 33 Q93.5
Orphanet 56 ORPHA261265
ICD10 via Orphanet 34 Q93.5

Summaries for Chromosome 17q12 Deletion Syndrome

MalaCards based summary : Chromosome 17q12 Deletion Syndrome, also known as 17q12 microdeletion syndrome, is related to congenital diaphragmatic hernia and catsper1-related nonsyndromic male infertility, 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 and uterus.

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:

id Related Disease Score Top Affiliating Genes
1 congenital diaphragmatic hernia 10.1
2 catsper1-related nonsyndromic male infertility 7.9 AATF ACACA ALG12 CYP4A11 DDX52 DEL17Q12
3 night blindness, congenital stationary , 1e, autosomal recessive 7.7 AATF ACACA ALG12 CYP4A11 DDX52 DEL17Q12

Symptoms & Phenotypes for Chromosome 17q12 Deletion Syndrome

Symptoms by clinical synopsis from OMIM:

614527

Clinical features from OMIM:

614527

Human phenotypes related to Chromosome 17q12 Deletion Syndrome:

56 32 (show top 50) (show all 64)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 diabetes mellitus 56 32 Frequent (79-30%) HP:0000819
3 intellectual disability 56 32 Occasional (29-5%) HP:0001249
4 hearing impairment 56 32 Occasional (29-5%) HP:0000365
5 global developmental delay 56 32 Occasional (29-5%) HP:0001263
6 short stature 56 32 Frequent (79-30%) HP:0004322
7 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
8 feeding difficulties 56 32 Occasional (29-5%) HP:0011968
9 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
10 autism 56 32 Occasional (29-5%) HP:0000717
11 elevated hepatic transaminases 56 32 Occasional (29-5%) HP:0002910
12 multicystic kidney dysplasia 56 32 Very frequent (99-80%) HP:0000003
13 renal hypoplasia/aplasia 56 32 Occasional (29-5%) HP:0008678
14 large fontanelles 56 32 Occasional (29-5%) HP:0000239
15 oligohydramnios 56 32 Occasional (29-5%) HP:0001562
16 shawl scrotum 56 32 Occasional (29-5%) HP:0000049
17 cerebral atrophy 56 32 Occasional (29-5%) HP:0002059
18 ureterocele 56 32 Occasional (29-5%) HP:0000070
19 language impairment 56 32 Occasional (29-5%) HP:0002463
20 pancreatic aplasia 56 32 Occasional (29-5%) HP:0100801
21 subcortical cerebral atrophy 56 32 Occasional (29-5%) HP:0012157
22 malar flattening 32 HP:0000272
23 frontal bossing 32 HP:0002007
24 high palate 32 HP:0000218
25 scoliosis 32 HP:0002650
26 mandibular prognathia 32 HP:0000303
27 depressed nasal bridge 32 HP:0005280
28 delayed speech and language development 32 HP:0000750
29 micrognathia 32 HP:0000347
30 nail dystrophy 32 HP:0008404
31 retrognathia 32 HP:0000278
32 short palm 32 HP:0004279
33 epicanthus 32 HP:0000286
34 short foot 32 HP:0001773
35 upper limb undergrowth 32 HP:0009824
36 protruding ear 32 HP:0000411
37 small nail 32 HP:0001792
38 downslanted palpebral fissures 32 HP:0000494
39 renal hypoplasia 32 HP:0000089
40 schizophrenia 32 HP:0100753
41 recurrent urinary tract infections 32 HP:0000010
42 high forehead 32 HP:0000348
43 urethral stenosis 32 HP:0008661
44 highly arched eyebrow 32 HP:0002553
45 facial asymmetry 32 HP:0000324
46 hydronephrosis 32 HP:0000126
47 focal seizures with impairment of consciousness or awareness 32 HP:0002384
48 unilateral renal agenesis 32 HP:0000122
49 aplasia of the uterus 32 HP:0000151
50 stage 5 chronic kidney disease 32 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:

id 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:

39
Kidney, Uterus

Publications for Chromosome 17q12 Deletion Syndrome

Variations for Chromosome 17q12 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 17q12 Deletion Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 subset of 29 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:

id Name GO ID Score Top Affiliating Genes
1 meiotic nuclear division GO:0007126 9.32 FKBP6 TUBGCP6
2 epithelium development GO:0060429 9.26 HNF1B LHX1
3 mesonephric tubule development GO:0072164 9.16 HNF1B LHX1
4 pronephros development GO:0048793 8.96 HNF1B LHX1
5 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
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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