MCID: 21Q001
MIFTS: 17

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
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 clinodactyly

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 (showing 59, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
2 clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0030084
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
5 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
6 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 small nail 58 31 frequent (33%) Frequent (79-30%) HP:0001792
9 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
10 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
11 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
12 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
13 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
14 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
15 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
16 sleep-wake cycle disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0006979
17 camptodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0012385
18 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
19 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
20 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
21 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
22 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
23 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
24 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
25 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
26 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
27 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
28 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
29 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
30 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
31 nail dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008404
32 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
33 thick lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000179
34 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
35 recurrent otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000403
36 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
37 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
38 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
39 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
40 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
41 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678
42 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
43 almond-shaped palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0007874
44 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
45 hypoplastic nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0002557
46 cone-shaped epiphyses of the phalanges of the hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0010230
47 short palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0012745
48 acromesomelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003086
49 inappropriate crying 58 31 occasional (7.5%) Occasional (29-5%) HP:0030215
50 scaphocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030799
51 periorbital hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001106
52 bruxism 58 31 occasional (7.5%) Occasional (29-5%) HP:0003763
53 short proximal phalanx of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009226
54 short proximal phalanx of the 2nd finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009597
55 stereotypical body rocking 58 31 occasional (7.5%) Occasional (29-5%) HP:0012172
56 tongue thrusting 58 31 occasional (7.5%) Occasional (29-5%) HP:0100703
57 behavioral abnormality 58 Frequent (79-30%)
58 abnormal facial shape 58 Frequent (79-30%)
59 thick vermilion border 58 Occasional (29-5%)

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....