MCID: MNS011
MIFTS: 22

Monosomy 9q22.3

Categories: Blood diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Monosomy 9q22.3

Summaries for Monosomy 9q22.3

MalaCards based summary : Monosomy 9q22.3, also known as microdeletion 9q22.3, is related to 9q22.3 microdeletion and trigonocephaly 1. An important gene associated with Monosomy 9q22.3 is PTCH1 (Patched 1). Affiliated tissues include eye, and related phenotypes are macrocephaly and low-set ears

Related Diseases for Monosomy 9q22.3

Diseases in the Monosomy 9q22.3 family:

Familial Monosomy 7 Syndrome Monosomy 21
Monosomy 22

Diseases related to Monosomy 9q22.3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 9q22.3 microdeletion 11.5
2 trigonocephaly 1 10.1
3 trigonocephaly 2 10.1
4 craniosynostosis 10.1
5 hydrocephalus 10.1

Graphical network of the top 20 diseases related to Monosomy 9q22.3:



Diseases related to Monosomy 9q22.3

Symptoms & Phenotypes for Monosomy 9q22.3

Human phenotypes related to Monosomy 9q22.3:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
4 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
5 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
8 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
10 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
11 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
12 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
13 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
14 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
15 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
16 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
17 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
18 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
19 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
20 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
21 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
22 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
23 arnold-chiari malformation 59 32 frequent (33%) Frequent (79-30%) HP:0002308
24 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
25 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
26 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
27 palmar pits 59 32 hallmark (90%) Very frequent (99-80%) HP:0010610
28 plantar pits 59 32 hallmark (90%) Very frequent (99-80%) HP:0010612
29 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
30 oral cleft 59 32 hallmark (90%) Very frequent (99-80%) HP:0000202
31 nephroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002667
32 rhabdomyosarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002859
33 large for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001520
34 accelerated skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0005616
35 trigonocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000243
36 hyperactivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000752
37 medulloblastoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002885
38 basal cell carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002671
39 ovarian fibroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0010618
40 metopic synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011330
41 polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0010442
42 thickened ears 59 32 frequent (33%) Frequent (79-30%) HP:0009894
43 cardiac fibroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0010617
44 calcification of falx cerebri 59 32 hallmark (90%) Very frequent (99-80%) HP:0005462
45 abnormality of the vertebral column 59 Very frequent (99-80%)
46 keratocystic odontogenic tumor 59 Very frequent (99-80%)
47 odontogenic keratocysts of the jaw 32 hallmark (90%) HP:0010603

Drugs & Therapeutics for Monosomy 9q22.3

Search Clinical Trials , NIH Clinical Center for Monosomy 9q22.3

Genetic Tests for Monosomy 9q22.3

Anatomical Context for Monosomy 9q22.3

MalaCards organs/tissues related to Monosomy 9q22.3:

41
Eye

Publications for Monosomy 9q22.3

Articles related to Monosomy 9q22.3:

# Title Authors Year
1
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. ( 22190277 )
2012
2
Clinical features of microdeletion 9q22.3 (pat). ( 19320658 )
2009

Variations for Monosomy 9q22.3

Copy number variations for Monosomy 9q22.3 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 256423 9 93000000 101600000 Microdeletion TGFBR1 9q22.3 microdeletion syndrome

Expression for Monosomy 9q22.3

Search GEO for disease gene expression data for Monosomy 9q22.3.

Pathways for Monosomy 9q22.3

GO Terms for Monosomy 9q22.3

Sources for Monosomy 9q22.3

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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