MCID: CHR487
MIFTS: 19

Chromosome 8q21.11 Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 8q21.11 Deletion Syndrome

MalaCards integrated aliases for Chromosome 8q21.11 Deletion Syndrome:

Name: Chromosome 8q21.11 Deletion Syndrome 58 12 30 13 15 74
8q21.11 Microdeletion Syndrome 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
contiguous gene deletion syndrome
variable features
eight unrelated patients have been reported (as of september 2011)


HPO:

33
chromosome 8q21.11 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 8q21.11 Deletion Syndrome

OMIM : 58 The chromosome 8q21.11 deletion syndrome is characterized by intellectual disability and common facial dysmorphic features (summary by Palomares et al., 2011). (614230)

MalaCards based summary : Chromosome 8q21.11 Deletion Syndrome, also known as 8q21.11 microdeletion syndrome, is related to alacrima, achalasia, and mental retardation syndrome. An important gene associated with Chromosome 8q21.11 Deletion Syndrome is DEL8Q21.11 (Chromosome 8q21.11 Deletion Syndrome). Affiliated tissues include bone, and related phenotypes are low-set ears and ptosis

Related Diseases for Chromosome 8q21.11 Deletion Syndrome

Diseases related to Chromosome 8q21.11 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.2

Symptoms & Phenotypes for Chromosome 8q21.11 Deletion Syndrome

Human phenotypes related to Chromosome 8q21.11 Deletion Syndrome:

33 (show all 45)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 hallmark (90%) HP:0000369
2 ptosis 33 hallmark (90%) HP:0000508
3 intellectual disability 33 hallmark (90%) HP:0001249
4 muscular hypotonia 33 hallmark (90%) HP:0001252
5 hearing impairment 33 hallmark (90%) HP:0000365
6 full cheeks 33 hallmark (90%) HP:0000293
7 short philtrum 33 hallmark (90%) HP:0000322
8 downturned corners of mouth 33 hallmark (90%) HP:0002714
9 round face 33 hallmark (90%) HP:0000311
10 exaggerated cupid's bow 33 hallmark (90%) HP:0002263
11 short neck 33 frequent (33%) HP:0000470
12 micrognathia 33 frequent (33%) HP:0000347
13 strabismus 33 frequent (33%) HP:0000486
14 underdeveloped nasal alae 33 frequent (33%) HP:0000430
15 downslanted palpebral fissures 33 frequent (33%) HP:0000494
16 nasal speech 33 frequent (33%) HP:0001611
17 high forehead 33 frequent (33%) HP:0000348
18 blepharophimosis 33 frequent (33%) HP:0000581
19 sclerocornea 33 frequent (33%) HP:0000647
20 wide nose 33 frequent (33%) HP:0000445
21 absent palmar crease 33 frequent (33%) HP:0010489
22 hypertelorism 33 occasional (7.5%) HP:0000316
23 finger syndactyly 33 occasional (7.5%) HP:0006101
24 high palate 33 occasional (7.5%) HP:0000218
25 cataract 33 occasional (7.5%) HP:0000518
26 abnormality of the dentition 33 occasional (7.5%) HP:0000164
27 epicanthus 33 occasional (7.5%) HP:0000286
28 cryptorchidism 33 occasional (7.5%) HP:0000028
29 microphthalmia 33 occasional (7.5%) HP:0000568
30 abnormality of the metacarpal bones 33 occasional (7.5%) HP:0001163
31 narrow mouth 33 occasional (7.5%) HP:0000160
32 hypoplasia of penis 33 occasional (7.5%) HP:0008736
33 eczema 33 occasional (7.5%) HP:0000964
34 abnormality of the sense of smell 33 occasional (7.5%) HP:0004408
35 camptodactyly of finger 33 occasional (7.5%) HP:0100490
36 iris hypopigmentation 33 occasional (7.5%) HP:0007730
37 aplasia/hypoplasia of the corpus callosum 33 occasional (7.5%) HP:0007370
38 wide nasal bridge 33 HP:0000431
39 sensorineural hearing impairment 33 HP:0000407
40 opacification of the corneal stroma 33 HP:0007759
41 protruding ear 33 HP:0000411
42 generalized hypotonia 33 HP:0001290
43 short palpebral fissure 33 HP:0012745
44 camptodactyly 33 HP:0012385
45 syndactyly 33 HP:0001159

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
prominent ears
sensorineural hearing loss (3 patients)

Head And Neck Eyes:
ptosis
downslanting palpebral fissures
epicanthal folds
short palpebral fissures
corneal opacities

Head And Neck Nose:
wide nasal bridge
underdeveloped alae

Skeletal Hands:
camptodactyly
syndactyly
broadening of the first rays

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
unusual behavior (2 patients)

Head And Neck Neck:
short neck

Neurologic Central Nervous System:
intellectual disability
impaired balance (2 patients)
underdeveloped corpus callosum (3 patients)

Head And Neck Face:
full cheeks
micrognathia
short philtrum
round face
high forehead

Skeletal Feet:
camptodactyly
syndactyly
broadening of the first rays

Head And Neck Mouth:
downturned corners of the mouth
cupid bow of the upper lip

Clinical features from OMIM:

614230

Drugs & Therapeutics for Chromosome 8q21.11 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 8q21.11 Deletion Syndrome

Genetic Tests for Chromosome 8q21.11 Deletion Syndrome

Genetic tests related to Chromosome 8q21.11 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 8q21.11 Deletion Syndrome 30

Anatomical Context for Chromosome 8q21.11 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 8q21.11 Deletion Syndrome:

42
Bone

Publications for Chromosome 8q21.11 Deletion Syndrome

Articles related to Chromosome 8q21.11 Deletion Syndrome:

# Title Authors Year
1
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. ( 21802062 )
2011

Variations for Chromosome 8q21.11 Deletion Syndrome

Expression for Chromosome 8q21.11 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 8q21.11 Deletion Syndrome.

Pathways for Chromosome 8q21.11 Deletion Syndrome

GO Terms for Chromosome 8q21.11 Deletion Syndrome

Sources for Chromosome 8q21.11 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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