MCID: MNS011
MIFTS: 20

Monosomy 9q22.3

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

Aliases & Classifications for Monosomy 9q22.3

MalaCards integrated aliases for Monosomy 9q22.3:

Name: Monosomy 9q22.3 58
Microdeletion 9q22.3 58

Characteristics:

Orphanet epidemiological data:

58
monosomy 9q22.3
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Monosomy 9q22.3

MalaCards based summary : Monosomy 9q22.3, also known as microdeletion 9q22.3, is related to 9q22.3 microdeletion and basal cell nevus syndrome. An important gene associated with Monosomy 9q22.3 is PTCH1 (Patched 1). Affiliated tissues include eye, and related phenotypes are macrocephaly and intellectual disability

Related Diseases for Monosomy 9q22.3

Diseases in the Autosomal Monosomy family:

Monosomy 21 Familial Monosomy 7 Syndrome
Monosomy 9q22.3 Total Autosomal Monosomy
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 11.2
2 basal cell nevus syndrome 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.0
4 hydrocephalus 10.0
5 obstructive hydrocephalus 10.0
6 craniosynostosis 10.0
7 basal cell carcinoma 10.0
8 hemangioma 10.0
9 overgrowth syndrome 10.0

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:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
5 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
6 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
7 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
8 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
9 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
10 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
11 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
12 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
13 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
14 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
15 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
16 palmar pits 58 31 hallmark (90%) Very frequent (99-80%) HP:0010610
17 plantar pits 58 31 hallmark (90%) Very frequent (99-80%) HP:0010612
18 large for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001520
19 oral cleft 58 31 hallmark (90%) Very frequent (99-80%) HP:0000202
20 trigonocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000243
21 basal cell carcinoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002671
22 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
23 hyperactivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000752
24 cardiac fibroma 58 31 hallmark (90%) Very frequent (99-80%) HP:0010617
25 ovarian fibroma 58 31 hallmark (90%) Very frequent (99-80%) HP:0010618
26 metopic synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011330
27 medulloblastoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002885
28 calcification of falx cerebri 58 31 hallmark (90%) Very frequent (99-80%) HP:0005462
29 hypotonia 31 hallmark (90%) HP:0001252
30 odontogenic keratocysts of the jaw 31 hallmark (90%) HP:0010603
31 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
32 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
33 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
34 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
35 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
36 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
37 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
38 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
39 arnold-chiari malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002308
40 accelerated skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0005616
41 thickened ears 58 31 frequent (33%) Frequent (79-30%) HP:0009894
42 polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0010442
43 seizure 31 frequent (33%) HP:0001250
44 rhabdomyosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002859
45 nephroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002667
46 seizures 58 Frequent (79-30%)
47 muscular hypotonia 58 Very frequent (99-80%)
48 abnormality of the vertebral column 58 Very frequent (99-80%)
49 keratocystic odontogenic tumor 58 Very frequent (99-80%)

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:

40
Eye

Publications for Monosomy 9q22.3

Articles related to Monosomy 9q22.3:

# Title Authors PMID Year
1
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. 61
22190277 2012
2
Clinical features of microdeletion 9q22.3 (pat). 61
19320658 2009

Variations for Monosomy 9q22.3

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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