MCID: CHR209
MIFTS: 23

Chromosome 17p Duplication malady

Rare diseases, Fetal diseases categories

Aliases & Classifications for Chromosome 17p Duplication

About this section
Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Chromosome 17p Duplication, Aliases & Descriptions:

Name: Chromosome 17p Duplication 41
20p12.3 Microdeletion Syndrome 41 47
Monosomy 20p12.3 41 47
Del(20)(p12.3) 41 47
Trisomy 17p 41 47
Chromosome 17, Trisomy 17p 60
 
Partial Trisomy 17p 41
17p Duplication 41
Duplication 17p 41
17p Trisomy 41
Dup 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases


Characteristics (Orphanet epidemiological data):

47
20p12.3 microdeletion syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
trisomy 17p:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 261295, 261290
ICD10 via Orphanet26 Q93.5, Q92.2
UMLS via Orphanet61 C0795865

Summaries for Chromosome 17p Duplication

About this section


MalaCards based summary: Chromosome 17p Duplication, also known as 20p12.3 microdeletion syndrome, is related to charcot-marie-tooth disease, type 1a and charcot-marie-tooth disease, and has symptoms including microcephaly, micrognathia and low-set, posteriorly rotated ears. An important gene associated with Chromosome 17p Duplication is BMP2 (bone morphogenetic protein 2). Affiliated tissues include bone, heart and kidney.

Related Diseases for Chromosome 17p Duplication

About this section

Diseases related to Chromosome 17p Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 1a10.3
2charcot-marie-tooth disease10.3
3tooth disease10.3
4neuropathy10.1

Symptoms for Chromosome 17p Duplication

About this section

Symptoms:

 47 (show all 67)
  • hypertelorism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • insterstitial/subtelomeric microdeletion/deletion
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • flat cheek bones/malar hypoplasia
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • epicanthic folds
  • microstomia/little mouth
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • short stature/dwarfism/nanism
  • broad cheeks/cherub-like/cherubin face
  • broad nose/nasal bridge
  • broad nasal root
  • long philtrum
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • helix thickened/sculpted
  • pectus carinatum
  • broad/bifid thumb
  • broad/bifid big toe
  • atrial septal defect/interauricular communication
  • dilated cerebral ventricles without hydrocephaly
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • microcephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • low set ears/posteriorly rotated ears
  • clinodactyly of fifth finger
  • total/partial trisomy/duplication
  • intrauterine growth retardation
  • mid-facial hypoplasia/short/small midface
  • ptosis
  • high vaulted/narrow palate
  • short neck
  • hirsutism/hypertrichosis/increased body hair
  • multicystic kidney/renal dysplasia
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • micropenis/small penis/agenesis
  • hypertonia/spasticity/rigidity/stiffness
  • restricted joint mobility/joint stiffness/ankylosis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • prominent metopic suture
  • coarse face
  • cataract/lens opacification
  • strabismus/squint
  • flared eyebrows
  • blepharophimosis/short palpebral fissures
  • long/large/bulbous nose
  • flared/thick ala nasi
  • macrostomia/big mouth
  • thick lips
  • philtrum flat/large/featureless/absent cupidon bows
  • cleft lip
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hearing loss/hypoacusia/deafness
  • scoliosis
  • tapered fingers
  • talipes-varus/metatarsal varus
  • low hair line (back)
  • high hair line (front)/widow peak
  • hypoplastic left heart/ventricle
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • patent ductus arteriosus
  • hydrocephaly
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy

HPO human phenotypes related to Chromosome 17p Duplication:

(show all 63)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 micrognathia hallmark (90%) HP:0000347
3 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
4 muscular hypotonia hallmark (90%) HP:0001252
5 intrauterine growth retardation hallmark (90%) HP:0001511
6 abnormality of chromosome segregation hallmark (90%) HP:0002916
7 clinodactyly of the 5th finger hallmark (90%) HP:0004209
8 short stature hallmark (90%) HP:0004322
9 cognitive impairment hallmark (90%) HP:0100543
10 hypertelorism hallmark (90%) HP:0000316
11 multicystic kidney dysplasia typical (50%) HP:0000003
12 narrow mouth typical (50%) HP:0000160
13 malar flattening typical (50%) HP:0000272
14 hypertelorism typical (50%) HP:0000316
15 short neck typical (50%) HP:0000470
16 downslanted palpebral fissures typical (50%) HP:0000494
17 ptosis typical (50%) HP:0000508
18 abnormality of the urethra typical (50%) HP:0000795
19 hypertrichosis typical (50%) HP:0000998
20 hypertonia typical (50%) HP:0001276
21 limitation of joint mobility typical (50%) HP:0001376
22 hypoplasia of penis typical (50%) HP:0008736
23 macrocephaly typical (50%) HP:0000256
24 epicanthus typical (50%) HP:0000286
25 short stature typical (50%) HP:0004322
26 cheekbone underdevelopment typical (50%) HP:0010669
27 arrhythmia typical (50%) HP:0011675
28 wide mouth occasional (7.5%) HP:0000154
29 abnormality of the tongue occasional (7.5%) HP:0000157
30 cleft palate occasional (7.5%) HP:0000175
31 thick lower lip vermilion occasional (7.5%) HP:0000179
32 cleft upper lip occasional (7.5%) HP:0000204
33 hydrocephalus occasional (7.5%) HP:0000238
34 coarse facial features occasional (7.5%) HP:0000280
35 abnormality of the philtrum occasional (7.5%) HP:0000288
36 hearing impairment occasional (7.5%) HP:0000365
37 abnormality of the nasal alae occasional (7.5%) HP:0000429
38 strabismus occasional (7.5%) HP:0000486
39 cataract occasional (7.5%) HP:0000518
40 blepharophimosis occasional (7.5%) HP:0000581
41 tapered finger occasional (7.5%) HP:0001182
42 patent ductus arteriosus occasional (7.5%) HP:0001643
43 abnormality of the aorta occasional (7.5%) HP:0001679
44 talipes occasional (7.5%) HP:0001883
45 low posterior hairline occasional (7.5%) HP:0002162
46 scoliosis occasional (7.5%) HP:0002650
47 amyotrophy occasional (7.5%) HP:0003202
48 hypoplastic left heart occasional (7.5%) HP:0004383
49 abnormal nasal morphology occasional (7.5%) HP:0005105
50 prominent metopic ridge occasional (7.5%) HP:0005487
51 high anterior hairline occasional (7.5%) HP:0009890
52 medial flaring of the eyebrow occasional (7.5%) HP:0010747
53 full cheeks occasional (7.5%) HP:0000293
54 long philtrum occasional (7.5%) HP:0000343
55 thickened helices occasional (7.5%) HP:0000391
56 wide nasal bridge occasional (7.5%) HP:0000431
57 pectus carinatum occasional (7.5%) HP:0000768
58 seizures occasional (7.5%) HP:0001250
59 muscular hypotonia occasional (7.5%) HP:0001252
60 defect in the atrial septum occasional (7.5%) HP:0001631
61 preaxial foot polydactyly occasional (7.5%) HP:0001841
62 ventriculomegaly occasional (7.5%) HP:0002119
63 abnormality of thumb phalanx occasional (7.5%) HP:0009602

Drugs & Therapeutics for Chromosome 17p Duplication

About this section

Drug clinical trials:

Search ClinicalTrials for Chromosome 17p Duplication

Search NIH Clinical Center for Chromosome 17p Duplication

Genetic Tests for Chromosome 17p Duplication

About this section

Anatomical Context for Chromosome 17p Duplication

About this section

MalaCards organs/tissues related to Chromosome 17p Duplication:

31
Bone, Heart, Kidney, Tongue

Animal Models for Chromosome 17p Duplication or affiliated genes

About this section

Publications for Chromosome 17p Duplication

About this section

Variations for Chromosome 17p Duplication

About this section

Expression for genes affiliated with Chromosome 17p Duplication

About this section
Search GEO for disease gene expression data for Chromosome 17p Duplication.

Pathways for genes affiliated with Chromosome 17p Duplication

About this section

Compounds for genes affiliated with Chromosome 17p Duplication

About this section

GO Terms for genes affiliated with Chromosome 17p Duplication

About this section

Products for genes affiliated with Chromosome 17p Duplication

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chromosome 17p Duplication

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet