Chromosome 17p Duplication malady

Rare diseases, Fetal diseases categories

Aliases & Classifications for Chromosome 17p Duplication

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45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
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Aliases & Descriptions for Chromosome 17p Duplication:

Name: Chromosome 17p Duplication 45
Trisomy 17p 45 51
Chromosome 17, Trisomy 17p 65
Partial Trisomy 17p 45
17p Duplication 45
Duplication 17p 45
17p Trisomy 45
Dup 51


Characteristics (Orphanet epidemiological data):

trisomy 17p:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

External Ids:

Orphanet51 261290
ICD10 via Orphanet28 Q92.2
UMLS via Orphanet66 C0795865

Summaries for Chromosome 17p Duplication

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MalaCards based summary: Chromosome 17p Duplication, also known as trisomy 17p, 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. Affiliated tissues include kidney, heart and tongue.

Related Diseases for Chromosome 17p Duplication

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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
5charcot-marie-tooth neuropathy10.1

Graphical network of diseases related to Chromosome 17p Duplication:

Diseases related to chromosome 17p duplication

Symptoms for Chromosome 17p Duplication

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 51 (show all 50)
  • microcephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • low set ears/posteriorly rotated ears
  • clinodactyly of fifth finger
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • total/partial trisomy/duplication
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • mid-facial hypoplasia/short/small midface
  • ptosis
  • broad nose/nasal bridge
  • microstomia/little mouth
  • 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 46)
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 multicystic kidney dysplasia typical (50%) HP:0000003
11 narrow mouth typical (50%) HP:0000160
12 malar flattening typical (50%) HP:0000272
13 hypertelorism typical (50%) HP:0000316
14 short neck typical (50%) HP:0000470
15 downslanted palpebral fissures typical (50%) HP:0000494
16 ptosis typical (50%) HP:0000508
17 abnormality of the urethra typical (50%) HP:0000795
18 hypertrichosis typical (50%) HP:0000998
19 hypertonia typical (50%) HP:0001276
20 limitation of joint mobility typical (50%) HP:0001376
21 hypoplasia of penis typical (50%) HP:0008736
22 wide mouth occasional (7.5%) HP:0000154
23 abnormality of the tongue occasional (7.5%) HP:0000157
24 cleft palate occasional (7.5%) HP:0000175
25 thick lower lip vermilion occasional (7.5%) HP:0000179
26 cleft upper lip occasional (7.5%) HP:0000204
27 hydrocephalus occasional (7.5%) HP:0000238
28 coarse facial features occasional (7.5%) HP:0000280
29 abnormality of the philtrum occasional (7.5%) HP:0000288
30 hearing impairment occasional (7.5%) HP:0000365
31 abnormality of the nasal alae occasional (7.5%) HP:0000429
32 strabismus occasional (7.5%) HP:0000486
33 cataract occasional (7.5%) HP:0000518
34 blepharophimosis occasional (7.5%) HP:0000581
35 tapered finger occasional (7.5%) HP:0001182
36 patent ductus arteriosus occasional (7.5%) HP:0001643
37 abnormality of the aorta occasional (7.5%) HP:0001679
38 talipes occasional (7.5%) HP:0001883
39 low posterior hairline occasional (7.5%) HP:0002162
40 scoliosis occasional (7.5%) HP:0002650
41 skeletal muscle atrophy occasional (7.5%) HP:0003202
42 hypoplastic left heart occasional (7.5%) HP:0004383
43 abnormal nasal morphology occasional (7.5%) HP:0005105
44 prominent metopic ridge occasional (7.5%) HP:0005487
45 high anterior hairline occasional (7.5%) HP:0009890
46 medial flaring of the eyebrow occasional (7.5%) HP:0010747

Drugs & Therapeutics for Chromosome 17p Duplication

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1ANot yet recruitingNCT02600286Phase 2
2Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion SyndromesCompletedNCT00004351

Search NIH Clinical Center for Chromosome 17p Duplication

Genetic Tests for Chromosome 17p Duplication

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Anatomical Context for Chromosome 17p Duplication

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MalaCards organs/tissues related to Chromosome 17p Duplication:

Kidney, Heart, Tongue, Skeletal muscle

Animal Models for Chromosome 17p Duplication or affiliated genes

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Publications for Chromosome 17p Duplication

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Variations for Chromosome 17p Duplication

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Expression for genes affiliated with Chromosome 17p Duplication

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

Pathways for genes affiliated with Chromosome 17p Duplication

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GO Terms for genes affiliated with Chromosome 17p Duplication

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Sources for Chromosome 17p Duplication

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet