MCID: CHR416
MIFTS: 19

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 53
Distal Monosomy 17q 53 59
Telomeric Deletion 17q 59
Partial Monosomy 17q 53
Distal 17q Deletion 59
Monosomy 17qter 59
17q Deletion 53
17q Monosomy 53
Deletion 17q 53
Monosomy 17q 53

Characteristics:

Orphanet epidemiological data:

59
distal monosomy 17q
Inheritance: Not applicable; Age of onset: Neonatal;

Classifications:



Summaries for Chromosome 17q Deletion

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1597Disease definitionDistal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).Visit the Orphanet disease page for more resources.

MalaCards based summary : Chromosome 17q Deletion, is also known as distal monosomy 17q. Affiliated tissues include eye 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:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
3 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
5 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
7 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
8 patent ductus arteriosus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001643
9 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
10 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
11 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
12 abnormality of the hip bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003272
13 melanocytic nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000995
14 small hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0200055
15 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
16 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
17 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
18 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
19 bilateral single transverse palmar creases 59 32 hallmark (90%) Very frequent (99-80%) HP:0007598
20 prominent metopic ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005487
21 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
22 aplasia/hypoplasia of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009601
23 deviation of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004097
24 abnormality of the philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000288
25 upper limb asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0100560
26 aplasia/hypoplasia of the uvula 59 32 hallmark (90%) Very frequent (99-80%) HP:0010293
27 abnormality of the cardiovascular system 59 Very frequent (99-80%)
28 abnormality of the thumb 59 Very frequent (99-80%)
29 abnormal dermatoglyphics 59 Very frequent (99-80%)
30 abnormality of the cardiac septa 59 Very frequent (99-80%)
31 asymmetric growth 59 Very frequent (99-80%)
32 abnormal cardiac septum morphology 32 hallmark (90%) HP:0001671

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:

41
Eye, 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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