MCID: CHR386
MIFTS: 39

Chromosome 6pter-P24 Deletion Syndrome

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 6pter-P24 Deletion Syndrome

MalaCards integrated aliases for Chromosome 6pter-P24 Deletion Syndrome:

Name: Chromosome 6pter-P24 Deletion Syndrome 58 12 30 13 15 74
6p Subtelomeric Deletion Syndrome 12 60
6p25 Microdeletion Syndrome 12 60
Distal Monosomy 6p 12 60
Distal Deletion 6p 60
Monosomy 6p25 60

Characteristics:

Orphanet epidemiological data:

60
distal monosomy 6p
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Miscellaneous:
variable phenotype
contiguous gene deletion syndrome at chromosome 6p

Inheritance:
isolated cases


HPO:

33
chromosome 6pter-p24 deletion syndrome:
Onset and clinical course phenotypic variability
Inheritance sporadic


Classifications:



Summaries for Chromosome 6pter-P24 Deletion Syndrome

MalaCards based summary : Chromosome 6pter-P24 Deletion Syndrome, also known as 6p subtelomeric deletion syndrome, is related to ritscher-schinzel syndrome 1 and branchiooculofacial syndrome. An important gene associated with Chromosome 6pter-P24 Deletion Syndrome is DEL6PTER (Chromosome 6pter Deletion Syndrome), and among its related pathways/superpathways are Shigellosis and Neurotrophic factor-mediated Trk receptor signaling. Affiliated tissues include eye, and related phenotypes are hypertelorism and low-set ears

Description from OMIM: 612582

Related Diseases for Chromosome 6pter-P24 Deletion Syndrome

Diseases related to Chromosome 6pter-P24 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ritscher-schinzel syndrome 1 11.4
2 branchiooculofacial syndrome 11.3
3 chromosome 22q11.2 deletion syndrome, distal 9.9 CRKL MAPK1
4 inguinal hernia 9.7 NF1 TBX1

Symptoms & Phenotypes for Chromosome 6pter-P24 Deletion Syndrome

Human phenotypes related to Chromosome 6pter-P24 Deletion Syndrome:

60 33 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
5 intellectual disability, mild 60 33 hallmark (90%) Very frequent (99-80%) HP:0001256
6 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
7 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
8 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
9 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
10 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
11 smooth philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000319
12 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
13 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
14 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
15 atrial septal defect 60 33 frequent (33%) Frequent (79-30%) HP:0001631
16 underdeveloped nasal alae 60 33 frequent (33%) Frequent (79-30%) HP:0000430
17 broad forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000337
18 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
19 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
20 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501
21 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
22 hypoplasia of the iris 60 33 frequent (33%) Frequent (79-30%) HP:0007676
23 downturned corners of mouth 60 33 frequent (33%) Frequent (79-30%) HP:0002714
24 posterior embryotoxon 60 33 frequent (33%) Frequent (79-30%) HP:0000627
25 wide nose 60 33 frequent (33%) Frequent (79-30%) HP:0000445
26 anterior synechiae of the anterior chamber 60 33 frequent (33%) Frequent (79-30%) HP:0011483
27 high hypermetropia 33 frequent (33%) HP:0008499
28 abnormality of epiphysis morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0005930
29 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
30 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
31 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
32 short palm 60 33 occasional (7.5%) Occasional (29-5%) HP:0004279
33 short foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001773
34 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
35 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
36 vertebral segmentation defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0003422
37 oral cleft 60 33 occasional (7.5%) Occasional (29-5%) HP:0000202
38 ectopia pupillae 60 33 occasional (7.5%) Occasional (29-5%) HP:0009918
39 short neck 33 HP:0000470
40 frontal bossing 33 HP:0002007
41 high palate 33 HP:0000218
42 intellectual disability 33 HP:0001249
43 seizures 33 HP:0001250
44 muscular hypotonia 33 HP:0001252
45 hip dysplasia 33 HP:0001385
46 sensorineural hearing impairment 33 HP:0000407
47 brachycephaly 33 HP:0000248
48 opacification of the corneal stroma 33 HP:0007759
49 patent ductus arteriosus 33 HP:0001643
50 specific learning disability 33 HP:0001328

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
strabismus
posterior embryotoxon
exotropia
downslanting palpebral fissures
more
Head And Neck Neck:
short neck

Head And Neck Nose:
depressed nasal bridge
flat nasal bridge

Cardiovascular Heart:
atrial septal defect
patent foramen ovale
valvular defects
tetralogy of fallot (reported in 1 patient)

Head And Neck Mouth:
cleft lip
high-arched palate
tented mouth

Head And Neck Teeth:
abnormally shaped teeth
overcrowded teeth
decreased enamel

Skeletal Feet:
rocker-bottom feet (reported in 2 patients)

Head And Neck Ears:
low-set ears
posteriorly rotated ears
sensorineural hearing loss

Head And Neck Head:
frontal bossing
brachycephaly
broad forehead

Cardiovascular Vascular:
patent ductus arteriosus

Neurologic Central Nervous System:
dandy-walker malformation
developmental delay
hypotonia
delayed motor development
mental retardation
more
Head And Neck Face:
midface hypoplasia

Skeletal Pelvis:
hip dysplasia (reported in 2 patients)

Clinical features from OMIM:

612582

GenomeRNAi Phenotypes related to Chromosome 6pter-P24 Deletion Syndrome according to GeneCards Suite gene sharing:

27 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.8 FOXC1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.8 MAPK1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.8 FOXC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.8 CRKL
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.8 FOXC1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.8 CRKL
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.8 CRKL
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.8 CRKL FOXC1 MAPK1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.8 FOXC1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.8 CRKL MAPK1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.8 CRKL
12 Decreased viability GR00055-A-2 9.62 MAPK1
13 Decreased viability GR00221-A-1 9.62 CRKL ERN1 MAPK1 NF1
14 Decreased viability GR00221-A-2 9.62 CRKL NF1
15 Decreased viability GR00221-A-3 9.62 MAPK1
16 Decreased viability GR00221-A-4 9.62 CRKL MAPK1 NF1
17 Decreased viability GR00231-A 9.62 MAPK1
18 Decreased viability GR00301-A 9.62 ERN1
19 Decreased viability GR00342-S-1 9.62 MAPK1
20 Decreased viability GR00342-S-2 9.62 MAPK1
21 Decreased viability GR00342-S-3 9.62 MAPK1
22 Decreased viability GR00402-S-2 9.62 CRKL ERN1 MAPK1 NF1

MGI Mouse Phenotypes related to Chromosome 6pter-P24 Deletion Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 CRKL ERN1 FOXC1 MAPK1 NF1 SNCA
2 digestive/alimentary MP:0005381 9.91 ERN1 FOXC1 MAPK1 NF1 SNCA TBX1
3 embryo MP:0005380 9.88 CRKL ERN1 FOXC1 MAPK1 NF1 TBX1
4 growth/size/body region MP:0005378 9.87 CRKL ERN1 FOXC1 MAPK1 NF1 SNCA
5 craniofacial MP:0005382 9.85 CRKL FOXC1 MAPK1 NF1 TBX1
6 endocrine/exocrine gland MP:0005379 9.85 CRKL FOXC1 MAPK1 NF1 SNCA TBX1
7 integument MP:0010771 9.7 CRKL ERN1 FOXC1 MAPK1 NF1 SNCA
8 hearing/vestibular/ear MP:0005377 9.56 CRKL MAPK1 NF1 TBX1
9 liver/biliary system MP:0005370 9.35 CRKL ERN1 FOXC1 MAPK1 NF1
10 skeleton MP:0005390 9.1 CRKL FOXC1 MAPK1 NF1 SNCA TBX1

Drugs & Therapeutics for Chromosome 6pter-P24 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 6pter-P24 Deletion Syndrome

Genetic Tests for Chromosome 6pter-P24 Deletion Syndrome

Genetic tests related to Chromosome 6pter-P24 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 6pter-P24 Deletion Syndrome 30

Anatomical Context for Chromosome 6pter-P24 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 6pter-P24 Deletion Syndrome:

42
Eye

Publications for Chromosome 6pter-P24 Deletion Syndrome

Variations for Chromosome 6pter-P24 Deletion Syndrome

Expression for Chromosome 6pter-P24 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 6pter-P24 Deletion Syndrome.

Pathways for Chromosome 6pter-P24 Deletion Syndrome

Pathways related to Chromosome 6pter-P24 Deletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.25 CRKL MAPK1
2
Show member pathways
11.19 CRKL MAPK1
3 11.11 MAPK1 NF1
4 11.11 MAPK1 NF1
6 10.94 MAPK1 NF1
7 10.67 MAPK1 NF1
8 10.46 MAPK1 SNCA
9 10.46 FOXC1 MAPK1 TBX1

GO Terms for Chromosome 6pter-P24 Deletion Syndrome

Cellular components related to Chromosome 6pter-P24 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.8 MAPK1 NF1 SNCA

Biological processes related to Chromosome 6pter-P24 Deletion Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 pattern specification process GO:0007389 9.57 CRKL TBX1
2 negative regulation of cell differentiation GO:0045596 9.56 MAPK1 TBX1
3 odontogenesis of dentin-containing tooth GO:0042475 9.55 FOXC1 TBX1
4 heart morphogenesis GO:0003007 9.54 FOXC1 TBX1
5 long-term synaptic potentiation GO:0060291 9.52 MAPK1 SNCA
6 collagen fibril organization GO:0030199 9.51 FOXC1 NF1
7 cellular response to fibroblast growth factor stimulus GO:0044344 9.49 SNCA TBX1
8 thyroid gland development GO:0030878 9.48 MAPK1 TBX1
9 neural crest cell development GO:0014032 9.46 FOXC1 MAPK1
10 regulation of long-term neuronal synaptic plasticity GO:0048169 9.43 NF1 SNCA
11 blood vessel development GO:0001568 9.43 CRKL FOXC1 TBX1
12 lymph vessel development GO:0001945 9.4 FOXC1 TBX1
13 outer ear morphogenesis GO:0042473 9.37 MAPK1 TBX1
14 thymus development GO:0048538 9.33 CRKL MAPK1 TBX1
15 parathyroid gland development GO:0060017 9.32 CRKL TBX1
16 artery morphogenesis GO:0048844 9.13 FOXC1 NF1 TBX1
17 heart development GO:0007507 9.02 CRKL FOXC1 MAPK1 NF1 TBX1

Molecular functions related to Chromosome 6pter-P24 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphotyrosine residue binding GO:0001784 8.96 CRKL MAPK1
2 Hsp70 protein binding GO:0030544 8.62 ERN1 SNCA

Sources for Chromosome 6pter-P24 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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