MCID: 21Q001
MIFTS: 18

21q22.11q22.12 Microdeletion Syndrome

Categories: Blood diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 21q22.11q22.12 Microdeletion Syndrome

MalaCards integrated aliases for 21q22.11q22.12 Microdeletion Syndrome:

Name: 21q22.11q22.12 Microdeletion Syndrome 58 6
Monosomy 21q22.11q22.12 58
Del(21)(q22.11q22.12) 58

Characteristics:

Orphanet epidemiological data:

58
21q22.11q22.12 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


Summaries for 21q22.11q22.12 Microdeletion Syndrome

MalaCards based summary : 21q22.11q22.12 Microdeletion Syndrome, is also known as monosomy 21q22.11q22.12. An important gene associated with 21q22.11q22.12 Microdeletion Syndrome is KIF15 (Kinesin Family Member 15). Affiliated tissues include skin and tongue, and related phenotypes are thrombocytopenia and coarse facial features

Related Diseases for 21q22.11q22.12 Microdeletion Syndrome

Symptoms & Phenotypes for 21q22.11q22.12 Microdeletion Syndrome

Human phenotypes related to 21q22.11q22.12 Microdeletion Syndrome:

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
2 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
7 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
8 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
9 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
10 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
11 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
12 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
13 small nail 58 31 frequent (33%) Frequent (79-30%) HP:0001792
14 camptodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0012385
15 clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0030084
16 sleep-wake cycle disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0006979
17 seizure 31 frequent (33%) HP:0001250
18 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
19 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
20 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
21 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
22 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
23 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
24 thick lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000179
25 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
26 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
27 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
28 recurrent otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000403
29 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
30 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678
31 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
32 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
33 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
34 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
35 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
36 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
37 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
38 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
39 hypoplastic nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0002557
40 nail dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008404
41 cone-shaped epiphyses of the phalanges of the hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0010230
42 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
43 almond-shaped palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0007874
44 short palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0012745
45 acromesomelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003086
46 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
47 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
48 bruxism 58 31 occasional (7.5%) Occasional (29-5%) HP:0003763
49 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
50 tongue thrusting 58 31 occasional (7.5%) Occasional (29-5%) HP:0100703

Drugs & Therapeutics for 21q22.11q22.12 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 21q22.11q22.12 Microdeletion Syndrome

Genetic Tests for 21q22.11q22.12 Microdeletion Syndrome

Anatomical Context for 21q22.11q22.12 Microdeletion Syndrome

MalaCards organs/tissues related to 21q22.11q22.12 Microdeletion Syndrome:

40
Skin, Tongue

Publications for 21q22.11q22.12 Microdeletion Syndrome

Variations for 21q22.11q22.12 Microdeletion Syndrome

ClinVar genetic disease variations for 21q22.11q22.12 Microdeletion Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 30 genes: ITSN1 , SON GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022)copy number loss Pathogenic 872829 21:33205064-36039022

Expression for 21q22.11q22.12 Microdeletion Syndrome

Search GEO for disease gene expression data for 21q22.11q22.12 Microdeletion Syndrome.

Pathways for 21q22.11q22.12 Microdeletion Syndrome

GO Terms for 21q22.11q22.12 Microdeletion Syndrome

Sources for 21q22.11q22.12 Microdeletion Syndrome

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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