MCID: CHR386
MIFTS: 30

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 56 12 29 13 15 71
6p Subtelomeric Deletion Syndrome 12 58
6p25 Microdeletion Syndrome 12 58
Distal Monosomy 6p 12 58
Distal Deletion 6p 58
Monosomy 6p25 58

Characteristics:

Orphanet epidemiological data:

58
distal monosomy 6p
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Miscellaneous:
variable phenotype
contiguous gene deletion syndrome at chromosome 6p

Inheritance:
isolated cases


HPO:

31
chromosome 6pter-p24 deletion syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


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). 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 combined oxidative phosphorylation deficiency 9.4 LYRM4 FARS2
8 lactic acidosis 9.3 LYRM4 FARS2

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:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
5 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
6 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
7 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
8 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
9 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
10 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
11 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
12 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
13 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
14 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
15 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
16 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
17 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
18 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
19 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
20 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
21 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
22 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
23 hypoplasia of the iris 58 31 frequent (33%) Frequent (79-30%) HP:0007676
24 posterior embryotoxon 58 31 frequent (33%) Frequent (79-30%) HP:0000627
25 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
26 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
27 anterior synechiae of the anterior chamber 58 31 frequent (33%) Frequent (79-30%) HP:0011483
28 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
29 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
30 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
31 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
32 short palm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004279
33 short foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001773
34 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
35 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
36 vertebral segmentation defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0003422
37 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
38 ectopia pupillae 58 31 occasional (7.5%) Occasional (29-5%) HP:0009918
39 short neck 31 HP:0000470
40 frontal bossing 31 HP:0002007
41 intellectual disability 31 HP:0001249
42 seizures 31 HP:0001250
43 high palate 31 HP:0000218
44 muscular hypotonia 31 HP:0001252
45 hip dysplasia 31 HP:0001385
46 sensorineural hearing impairment 31 HP:0000407
47 midface retrusion 31 HP:0011800
48 brachycephaly 31 HP:0000248
49 generalized hypotonia 31 HP:0001290
50 tented upper lip vermilion 31 HP:0010804

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
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. 56
19668217 2009
2
A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. 56
18694899 2008
3
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients. 56
18629875 2008
4
Terminal deletion of 6p results in a recognizable phenotype. 56
15940702 2005
5
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. 56
15704124 2005
6
Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. 56
15654696 2005
7
Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. 56
15150541 2004
8
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. 56
11007653 2000
9
Delineation of two distinct 6p deletion syndromes. 56
10071194 1999
10
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. 56
9792859 1998
11
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. 56
9620769 1998
12
Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. 56
9326342 1997
13
Autosomal dominant iridogoniodysgenesis: genetic features. 56
6839205 1983
14
Autosomal dominant iridogoniodysgenesis. A genetic and clinical study. 56
7171775 1982
15
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome. 61
27629806 2017
16
Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family. 61
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

GO Terms for Chromosome 6pter-P24 Deletion Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 tRNA processing GO:0008033 8.62 RPP40 FARS2

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 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
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