MCID: CHR386
MIFTS: 38

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 57 12 29 13 15 72
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:
Inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0060422
OMIM 57 612582
ICD10 33 Q93.5
ICD10 via Orphanet 34 Q93.5
UMLS via Orphanet 73 C2675486
Orphanet 59 ORPHA96125
MedGen 42 C2675486
UMLS 72 C2675486

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 branchiooculofacial syndrome and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. 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

More information 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 branchiooculofacial syndrome 11.5
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
3 ritscher-schinzel syndrome 1 10.1
4 ritscher-schinzel syndrome 10.1
5 peters-plus syndrome 10.1
6 hydrocephalus 10.1
7 congenital hydrocephalus 10.1
8 chromosome 22q11.2 deletion syndrome, distal 9.9 MAPK1 CRKL
9 inguinal hernia 9.5 TBX1 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

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 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
5 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
6 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
7 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
8 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
9 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
10 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
11 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
12 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
13 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
16 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
17 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
18 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
19 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
20 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
21 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
22 hypoplasia of the iris 59 32 frequent (33%) Frequent (79-30%) HP:0007676
23 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
24 posterior embryotoxon 59 32 frequent (33%) Frequent (79-30%) HP:0000627
25 wide nose 59 32 frequent (33%) Frequent (79-30%) HP:0000445
26 anterior synechiae of the anterior chamber 59 32 frequent (33%) Frequent (79-30%) HP:0011483
27 high hypermetropia 32 frequent (33%) HP:0008499
28 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
29 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
30 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
31 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
32 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
33 short foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001773
34 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
35 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
36 vertebral segmentation defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0003422
37 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
38 ectopia pupillae 59 32 occasional (7.5%) Occasional (29-5%) HP:0009918
39 short neck 32 HP:0000470
40 frontal bossing 32 HP:0002007
41 high palate 32 HP:0000218
42 intellectual disability 32 HP:0001249
43 seizures 32 HP:0001250
44 muscular hypotonia 32 HP:0001252
45 hip dysplasia 32 HP:0001385
46 sensorineural hearing impairment 32 HP:0000407
47 brachycephaly 32 HP:0000248
48 generalized hypotonia 32 HP:0001290
49 tented upper lip vermilion 32 HP:0010804
50 opacification of the corneal stroma 32 HP:0007759

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
posterior embryotoxon
exotropia
axenfeld anomaly
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:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.62 MAPK1
2 Decreased viability GR00221-A-1 9.62 CRKL ERN1 MAPK1 NF1
3 Decreased viability GR00221-A-2 9.62 CRKL NF1
4 Decreased viability GR00221-A-3 9.62 MAPK1
5 Decreased viability GR00221-A-4 9.62 CRKL MAPK1 NF1
6 Decreased viability GR00231-A 9.62 MAPK1
7 Decreased viability GR00301-A 9.62 ERN1
8 Decreased viability GR00342-S-1 9.62 MAPK1
9 Decreased viability GR00342-S-2 9.62 MAPK1
10 Decreased viability GR00342-S-3 9.62 MAPK1
11 Decreased viability GR00402-S-2 9.62 CRKL ERN1 MAPK1 NF1

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 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 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:

(show all 16)
# Title Authors PMID Year
1
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. 8
19668217 2009
2
A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. 8
18694899 2008
3
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients. 8
18629875 2008
4
Terminal deletion of 6p results in a recognizable phenotype. 8
15940702 2005
5
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. 8
15704124 2005
6
Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. 8
15654696 2005
7
Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. 8
15150541 2004
8
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. 8
11007653 2000
9
Delineation of two distinct 6p deletion syndromes. 8
10071194 1999
10
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. 8
9792859 1998
11
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. 8
9620769 1998
12
Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. 8
9326342 1997
13
Autosomal dominant iridogoniodysgenesis: genetic features. 8
6839205 1983
14
Autosomal dominant iridogoniodysgenesis. A genetic and clinical study. 8
7171775 1982
15
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome. 38
27629806 2017
16
Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family. 38
26174853 2015

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 11.26 MAPK1 CRKL
2
Show member pathways
11.19 MAPK1 CRKL
3 11.11 NF1 MAPK1
4 11.11 NF1 MAPK1
6 10.94 NF1 MAPK1
7 10.67 NF1 MAPK1
8 10.46 SNCA MAPK1
9 10.46 TBX1 MAPK1 FOXC1

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 SNCA NF1 MAPK1

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

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 MAPK1 CRKL
2 Hsp70 protein binding GO:0030544 8.62 SNCA ERN1

Sources for Chromosome 6pter-P24 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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