MCID: 9P1001
MIFTS: 17

9p13 Microdeletion Syndrome

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for 9p13 Microdeletion Syndrome

MalaCards integrated aliases for 9p13 Microdeletion Syndrome:

Name: 9p13 Microdeletion Syndrome 58 28
Monosomy 9p13 58
Del(9)(p13) 58

Characteristics:


Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for 9p13 Microdeletion Syndrome

Orphanet: 58 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).

MalaCards based summary: 9p13 Microdeletion Syndrome, also known as monosomy 9p13, is related to leukemia, chronic lymphocytic and t-cell prolymphocytic leukemia. Affiliated tissues include skin, and related phenotypes are wide nasal bridge and anteverted nares

Related Diseases for 9p13 Microdeletion Syndrome

Diseases related to 9p13 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leukemia, chronic lymphocytic 10.0
2 t-cell prolymphocytic leukemia 10.0
3 prolymphocytic leukemia 10.0

Symptoms & Phenotypes for 9p13 Microdeletion Syndrome

Human phenotypes related to 9p13 Microdeletion Syndrome:

58 30 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000431
2 anteverted nares 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000463
3 myoclonus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001336
4 attention deficit hyperactivity disorder 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007018
5 microretrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000308
6 mild global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011342
7 bruxism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003763
8 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
9 brachycephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000248
10 low-set ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000369
11 esotropia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000565
12 hand tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0002378
13 abnormality of cartilage of external ear 58 30 Frequent (33%) Frequent (79-30%)
HP:3000022
14 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
15 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
16 precocious puberty 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000826
17 joint stiffness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001387
18 umbilical hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001537
19 thick eyebrow 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000574
20 dry skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000958
21 recurrent otitis media 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000403
22 hypoplastic toenails 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001800
23 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
24 clinodactyly of the 5th finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004209
25 highly arched eyebrow 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002553
26 absent palmar crease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010489
27 cafe-au-lait spot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000957
28 hyperconvex nail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001795
29 hypermetropia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000540
30 metopic synostosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011330
31 external genital hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003241
32 behavioral abnormality 58 Very frequent (99-80%)

Drugs & Therapeutics for 9p13 Microdeletion Syndrome

Search Clinical Trials, NIH Clinical Center for 9p13 Microdeletion Syndrome

Genetic Tests for 9p13 Microdeletion Syndrome

Genetic tests related to 9p13 Microdeletion Syndrome:

# Genetic test Affiliating Genes
1 9p13 Microdeletion Syndrome 28

Anatomical Context for 9p13 Microdeletion Syndrome

Organs/tissues related to 9p13 Microdeletion Syndrome:

MalaCards : Skin

Publications for 9p13 Microdeletion Syndrome

Variations for 9p13 Microdeletion Syndrome

Expression for 9p13 Microdeletion Syndrome

Search GEO for disease gene expression data for 9p13 Microdeletion Syndrome.

Pathways for 9p13 Microdeletion Syndrome

GO Terms for 9p13 Microdeletion Syndrome

Sources for 9p13 Microdeletion Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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