MCID: CHR386
MIFTS: 40

Chromosome 6pter-P24 Deletion Syndrome

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

Aliases & Classifications for Chromosome 6pter-P24 Deletion Syndrome

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

Name: Chromosome 6pter-P24 Deletion Syndrome 57 12 29 13 15 73
6p Subtelomeric Deletion Syndrome 12 59
6p25 Microdeletion Syndrome 12 59
Distal Monosomy 6p 12 59
Distal Deletion 6p 59
Monosomy 6p25 59

Characteristics:

Orphanet epidemiological data:

59
distal monosomy 6p
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
variable phenotype
contiguous gene deletion syndrome at chromosome 6p

Inheritance:
isolated cases


HPO:

32
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 malar flattening and hypertelorism

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 11.3
2 branchiooculofacial syndrome 11.2
3 chromosome 22q11.2 deletion syndrome, distal 9.9 CRKL MAPK1
4 inguinal hernia 9.5 NF1 TBX1
5 glaucoma 3, primary congenital, a 9.2 FOXC1 NF1

Graphical network of the top 20 diseases related to Chromosome 6pter-P24 Deletion Syndrome:



Diseases related to Chromosome 6pter-P24 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 6pter-P24 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
4 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
5 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
6 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
7 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
10 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
11 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
12 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
13 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
14 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
15 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
16 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
17 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
18 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
19 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
20 short foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001773
21 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
22 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
23 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
24 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
25 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
26 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
27 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
28 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
29 hypoplasia of the iris 59 32 frequent (33%) Frequent (79-30%) HP:0007676
30 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
31 posterior embryotoxon 59 32 frequent (33%) Frequent (79-30%) HP:0000627
32 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
33 vertebral segmentation defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0003422
34 wide nose 59 32 frequent (33%) Frequent (79-30%) HP:0000445
35 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
36 ectopia pupillae 59 32 occasional (7.5%) Occasional (29-5%) HP:0009918
37 anterior synechiae of the anterior chamber 59 32 frequent (33%) Frequent (79-30%) HP:0011483
38 short neck 32 HP:0000470
39 frontal bossing 32 HP:0002007
40 high palate 32 HP:0000218
41 intellectual disability 32 HP:0001249
42 seizures 32 HP:0001250
43 muscular hypotonia 32 HP:0001252
44 hip dysplasia 32 HP:0001385
45 sensorineural hearing impairment 32 HP:0000407
46 brachycephaly 32 HP:0000248
47 opacification of the corneal stroma 32 HP:0007759
48 patent ductus arteriosus 32 HP:0001643
49 specific learning disability 32 HP:0001328
50 dental crowding 32 HP:0000678

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

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.83 FOXC1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.83 MAPK1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.83 FOXC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.83 CRKL
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.83 FOXC1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.83 CRKL
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.83 CRKL
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.83 CRKL FOXC1 MAPK1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.83 FOXC1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.83 CRKL MAPK1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.83 CRKL
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.83 CRKL
13 Decreased viability GR00055-A-2 9.62 MAPK1
14 Decreased viability GR00221-A-1 9.62 MAPK1 NF1 CRKL ERN1
15 Decreased viability GR00221-A-2 9.62 NF1 CRKL
16 Decreased viability GR00221-A-3 9.62 MAPK1
17 Decreased viability GR00221-A-4 9.62 MAPK1 NF1 CRKL
18 Decreased viability GR00231-A 9.62 MAPK1
19 Decreased viability GR00301-A 9.62 ERN1
20 Decreased viability GR00342-S-1 9.62 MAPK1
21 Decreased viability GR00342-S-2 9.62 MAPK1
22 Decreased viability GR00342-S-3 9.62 MAPK1
23 Decreased viability GR00402-S-2 9.62 MAPK1 NF1 CRKL ERN1

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

46
# 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 NF1 SNCA TBX1 ERN1 FOXC1 MAPK1
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 FOXC1 MAPK1 NF1 SNCA TBX1 CRKL
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 29

Anatomical Context for Chromosome 6pter-P24 Deletion Syndrome

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

41
Eye

Publications for Chromosome 6pter-P24 Deletion Syndrome

Articles related to Chromosome 6pter-P24 Deletion Syndrome:

# Title Authors Year
1
The 6p subtelomere deletion syndrome. ( 17918735 )
2007

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
5 10.94 MAPK1 NF1
6 10.67 MAPK1 NF1
7 10.46 MAPK1 SNCA
8 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 16)
# Name GO ID Score Top Affiliating Genes
1 odontogenesis of dentin-containing tooth GO:0042475 9.56 FOXC1 TBX1
2 pattern specification process GO:0007389 9.55 CRKL TBX1
3 heart morphogenesis GO:0003007 9.54 FOXC1 TBX1
4 long-term synaptic potentiation GO:0060291 9.52 MAPK1 SNCA
5 collagen fibril organization GO:0030199 9.51 FOXC1 NF1
6 cellular response to fibroblast growth factor stimulus GO:0044344 9.49 SNCA TBX1
7 thyroid gland development GO:0030878 9.48 MAPK1 TBX1
8 neural crest cell development GO:0014032 9.46 FOXC1 MAPK1
9 regulation of long-term neuronal synaptic plasticity GO:0048169 9.43 NF1 SNCA
10 blood vessel development GO:0001568 9.43 CRKL FOXC1 TBX1
11 lymph vessel development GO:0001945 9.4 FOXC1 TBX1
12 outer ear morphogenesis GO:0042473 9.37 MAPK1 TBX1
13 thymus development GO:0048538 9.33 CRKL MAPK1 TBX1
14 parathyroid gland development GO:0060017 9.32 CRKL TBX1
15 artery morphogenesis GO:0048844 9.13 FOXC1 NF1 TBX1
16 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 Hsp70 protein binding GO:0030544 8.96 ERN1 SNCA
2 phosphotyrosine residue binding GO:0001784 8.62 CRKL MAPK1

Sources for Chromosome 6pter-P24 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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