MCID: CHR416
MIFTS: 18

Chromosome 17q Deletion

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 17q Deletion

MalaCards integrated aliases for Chromosome 17q Deletion:

Name: Chromosome 17q Deletion 54
Distal Monosomy 17q 54 60
Telomeric Deletion 17q 60
Partial Monosomy 17q 54
Distal 17q Deletion 60
Monosomy 17qter 60
17q Deletion 54
17q Monosomy 54
Deletion 17q 54
Monosomy 17q 54

Characteristics:

Orphanet epidemiological data:

60
distal monosomy 17q
Inheritance: Not applicable; Age of onset: Neonatal;

Classifications:



Summaries for Chromosome 17q Deletion

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1597Disease definitionA partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.Visit the Orphanet disease page for more resources.

MalaCards based summary : Chromosome 17q Deletion, is also known as distal monosomy 17q. Affiliated tissues include heart and bone, and related phenotypes are hypertelorism and respiratory insufficiency

Related Diseases for Chromosome 17q Deletion

Symptoms & Phenotypes for Chromosome 17q Deletion

Human phenotypes related to Chromosome 17q Deletion:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 respiratory insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002093
3 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
4 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
7 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
8 patent ductus arteriosus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001643
9 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
10 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312
11 short thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0010306
12 abnormality of the hip bone 60 33 hallmark (90%) Very frequent (99-80%) HP:0003272
13 melanocytic nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000995
14 small hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0200055
15 abnormality of the metacarpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0001163
16 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
17 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
18 upslanted palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000582
19 bilateral single transverse palmar creases 60 33 hallmark (90%) Very frequent (99-80%) HP:0007598
20 prominent metopic ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005487
21 premature birth 60 33 hallmark (90%) Very frequent (99-80%) HP:0001622
22 aplasia/hypoplasia of the thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009601
23 deviation of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004097
24 abnormality of the philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000288
25 upper limb asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0100560
26 aplasia/hypoplasia of the uvula 60 33 hallmark (90%) Very frequent (99-80%) HP:0010293
27 abnormal cardiac septum morphology 33 hallmark (90%) HP:0001671
28 abnormality of the cardiovascular system 60 Very frequent (99-80%)
29 abnormal thumb morphology 60 Very frequent (99-80%)
30 abnormal dermatoglyphics 60 Very frequent (99-80%)
31 abnormality of the cardiac septa 60 Very frequent (99-80%)
32 asymmetric growth 60 Very frequent (99-80%)

Drugs & Therapeutics for Chromosome 17q Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome 17q Deletion

Genetic Tests for Chromosome 17q Deletion

Anatomical Context for Chromosome 17q Deletion

MalaCards organs/tissues related to Chromosome 17q Deletion:

42
Heart, Bone

Publications for Chromosome 17q Deletion

Variations for Chromosome 17q Deletion

Expression for Chromosome 17q Deletion

Search GEO for disease gene expression data for Chromosome 17q Deletion.

Pathways for Chromosome 17q Deletion

GO Terms for Chromosome 17q Deletion

Sources for Chromosome 17q Deletion

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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