MCID: 9Q3002
MIFTS: 19

9q33.3q34.11 Microdeletion Syndrome

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for 9q33.3q34.11 Microdeletion Syndrome

MalaCards integrated aliases for 9q33.3q34.11 Microdeletion Syndrome:

Name: 9q33.3q34.11 Microdeletion Syndrome 58
Deletion 9q33.3q34.11 58
Monosomy 9q33.3q34.11 58
Del(9)(q33.3q34.11) 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for 9q33.3q34.11 Microdeletion Syndrome

MalaCards based summary : 9q33.3q34.11 Microdeletion Syndrome, also known as deletion 9q33.3q34.11, is related to stxbp1 encephalopathy and developmental and epileptic encephalopathy 4. An important gene associated with 9q33.3q34.11 Microdeletion Syndrome is LMX1B (LIM Homeobox Transcription Factor 1 Beta). Affiliated tissues include kidney, and related phenotypes are dysphagia and delayed speech and language development

Related Diseases for 9q33.3q34.11 Microdeletion Syndrome

Diseases related to 9q33.3q34.11 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 stxbp1 encephalopathy 9.7 STXBP1 LMX1B
2 developmental and epileptic encephalopathy 4 9.6 STXBP1 LMX1B
3 dravet syndrome 9.6 STXBP1 LMX1B
4 early infantile epileptic encephalopathy 9.5 STXBP1 LMX1B

Symptoms & Phenotypes for 9q33.3q34.11 Microdeletion Syndrome

Human phenotypes related to 9q33.3q34.11 Microdeletion Syndrome:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
4 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
5 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
6 patellar dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002999
7 large forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0002003
8 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
9 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
10 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
11 nail dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002164
12 muscular hypotonia of the trunk 58 31 hallmark (90%) Very frequent (99-80%) HP:0008936
13 broad chin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011822
14 abnormal shape of the palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0200005
15 seizure 31 hallmark (90%) HP:0001250
16 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
17 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
18 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
19 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
20 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
21 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
22 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
23 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
24 asthma 58 31 frequent (33%) Frequent (79-30%) HP:0002099
25 epistaxis 58 31 frequent (33%) Frequent (79-30%) HP:0000421
26 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
27 prominent metopic ridge 58 31 frequent (33%) Frequent (79-30%) HP:0005487
28 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
29 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
30 patellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0003065
31 bilateral coxa valga 58 31 frequent (33%) Frequent (79-30%) HP:0010665
32 fixed elbow flexion 58 31 frequent (33%) Frequent (79-30%) HP:0006471
33 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
34 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
35 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
36 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
37 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
38 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
39 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
40 abnormality of the kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000077
41 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
42 abnormal hair pattern 58 31 occasional (7.5%) Occasional (29-5%) HP:0010720
43 scrotal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000046
44 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
45 spastic tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001285
46 abnormality of the periventricular white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002518
47 cerebellar vermis atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006855
48 patellar aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006443
49 abnormality of the pinna 58 31 occasional (7.5%) Occasional (29-5%) HP:0000377
50 telangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001009

MGI Mouse Phenotypes related to 9q33.3q34.11 Microdeletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.62 LMX1B STXBP1

Drugs & Therapeutics for 9q33.3q34.11 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 9q33.3q34.11 Microdeletion Syndrome

Genetic Tests for 9q33.3q34.11 Microdeletion Syndrome

Anatomical Context for 9q33.3q34.11 Microdeletion Syndrome

MalaCards organs/tissues related to 9q33.3q34.11 Microdeletion Syndrome:

40
Kidney

Publications for 9q33.3q34.11 Microdeletion Syndrome

Variations for 9q33.3q34.11 Microdeletion Syndrome

Expression for 9q33.3q34.11 Microdeletion Syndrome

Search GEO for disease gene expression data for 9q33.3q34.11 Microdeletion Syndrome.

Pathways for 9q33.3q34.11 Microdeletion Syndrome

GO Terms for 9q33.3q34.11 Microdeletion Syndrome

Sources for 9q33.3q34.11 Microdeletion Syndrome

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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