MCID: CHR667
MIFTS: 37

Chromosome 3pter-P25 Deletion Syndrome

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

Aliases & Classifications for Chromosome 3pter-P25 Deletion Syndrome

MalaCards integrated aliases for Chromosome 3pter-P25 Deletion Syndrome:

Name: Chromosome 3pter-P25 Deletion Syndrome 57 12 29
3p- Syndrome 57 12 59 13 15
Distal Monosomy 3p 12 59
Deletion Syndrome, Chromosome 3pter-P25 40
Chromosome 3, Monosomy 3p 73
Telomeric Monosomy 3p 59
Distal 3p Deletion 59
Monosomy 3pter 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

32
chromosome 3pter-p25 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chromosome 3pter-P25 Deletion Syndrome

OMIM : 57 Characteristic features of the distal 3p- syndrome include low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. Postaxial polydactyly, renal anomalies, cleft palate, congenital heart defects (especially atrioventricular septal defects), preauricular pits, sacral dimple, and gastrointestinal anomalies are variable features. Although intellectual deficits are almost invariably associated with cytogenetically visible 3p deletions, rare patients with a 3p26-p25 deletion and normal intelligence or only mild abnormalities have been described (summary by Shuib et al., 2009). (613792)

MalaCards based summary : Chromosome 3pter-P25 Deletion Syndrome, also known as 3p- syndrome, is related to chromosome 3p- syndrome and van der woude syndrome 1, and has symptoms including muscle spasticity An important gene associated with Chromosome 3pter-P25 Deletion Syndrome is DEL3PTERP25 (3p- Syndrome), and among its related pathways/superpathways are Axon guidance and Salivary secretion. Affiliated tissues include heart, and related phenotypes are hypertelorism and short neck

Related Diseases for Chromosome 3pter-P25 Deletion Syndrome

Diseases related to Chromosome 3pter-P25 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 3p- syndrome 11.2
2 van der woude syndrome 1 9.4 SRGAP2 SRGAP3

Symptoms & Phenotypes for Chromosome 3pter-P25 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
periorbital fullness
blepharophimosis
more
Muscle Soft Tissue:
spasticity
muscle hypotonia
muscle hypertonicity

Growth Height:
short stature

Head And Neck Face:
long philtrum
micrognathia
retrognathia
triangular face
mandible small

Head And Neck Mouth:
downturned corners of mouth
high-arched palate
thin lips

Skeletal Hands:
postaxial polydactyly
tapering fingers

Skeletal Skull:
prominent metopic suture

Abdomen Gastrointestinal:
feeding problems

Neurologic Central Nervous System:
seizures (rare)
poor or absent speech
psychomotor retardation, severe to profound

Genitourinary Kidneys:
renal malformation (in some patients)

Head And Neck Ears:
low-set ears
preauricular fistulas
preauricular pits
hearing loss (in some patients)
poorly shaped ears

Head And Neck Nose:
anteverted nares
broad nasal tip
broad nasal bridge
flat nasal bridge
prominent columella
more
Head And Neck Head:
brachycephaly
flat occiput
trigonocephaly
microcephaly (up to -3.4 sd)

Growth Other:
postnatal growth retardation

Skeletal Spine:
sacral dimple

Skeletal Feet:
postaxial polydactyly

Growth Weight:
low birth weight

GenitourinaryInternal GenitaliaMale:
cryptorchidism (in some patients)

Cardiovascular Heart:
congenital heart disease (in some patients)
atrioventricular septal defect (in some patients)


Clinical features from OMIM:

613792

Human phenotypes related to Chromosome 3pter-P25 Deletion Syndrome:

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
3 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
4 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
8 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
9 hearing impairment 59 32 occasional (7.5%) Frequent (79-30%) HP:0000365
10 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
11 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
12 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
13 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
14 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
15 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
16 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
17 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
18 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
19 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
20 cryptorchidism 59 32 occasional (7.5%) Frequent (79-30%) HP:0000028
21 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
22 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
23 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
24 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
25 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
26 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
27 blepharophimosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000581
28 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
29 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
30 triangular face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000325
31 preauricular pit 59 32 occasional (7.5%) Occasional (29-5%) HP:0004467
32 postaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001162
33 atrioventricular canal defect 59 32 occasional (7.5%) Frequent (79-30%) HP:0006695
34 abnormal vestibulo-ocular reflex 59 32 occasional (7.5%) Occasional (29-5%) HP:0007670
35 low-set ears 32 HP:0000369
36 global developmental delay 32 HP:0001263
37 depressed nasal bridge 32 HP:0005280
38 wide nasal bridge 32 HP:0000431
39 feeding difficulties 32 HP:0011968
40 retrognathia 32 HP:0000278
41 strabismus 32 HP:0000486
42 periorbital fullness 32 HP:0000629
43 postnatal growth retardation 32 HP:0008897
44 prominent nasal bridge 32 occasional (7.5%) HP:0000426
45 upslanted palpebral fissure 32 HP:0000582
46 broad nasal tip 32 HP:0000455
47 flat occiput 32 HP:0005469
48 highly arched eyebrow 32 HP:0002553
49 synophrys 32 HP:0000664
50 tapered finger 32 HP:0001182

UMLS symptoms related to Chromosome 3pter-P25 Deletion Syndrome:


muscle spasticity

MGI Mouse Phenotypes related to Chromosome 3pter-P25 Deletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.02 ATP2B2 CA2 CNTN4 SRGAP2 SRGAP3

Drugs & Therapeutics for Chromosome 3pter-P25 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 3pter-P25 Deletion Syndrome

Genetic Tests for Chromosome 3pter-P25 Deletion Syndrome

Genetic tests related to Chromosome 3pter-P25 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 3pter-P25 Deletion Syndrome 29

Anatomical Context for Chromosome 3pter-P25 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 3pter-P25 Deletion Syndrome:

41
Heart

Publications for Chromosome 3pter-P25 Deletion Syndrome

Articles related to Chromosome 3pter-P25 Deletion Syndrome:

(show all 11)
# Title Authors Year
1
A case of partial trisomy 3p syndrome with rare clinical manifestations. ( 22474466 )
2012
2
Microarray based analysis of 3p25-p26 deletions (3p- syndrome). ( 19760623 )
2009
3
3p-- syndrome defines a hearing loss locus in 3p25.3. ( 17208398 )
2007
4
Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome. ( 11977162 )
2002
5
CALL gene is haploinsufficient in a 3p- syndrome patient. ( 10508992 )
1999
6
Anaesthesia and trisomy 3p syndrome. ( 8909680 )
1996
7
Molecular genetic analysis of the 3p- syndrome. ( 7951234 )
1994
8
Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3. ( 2178418 )
1990
9
Partial trisomy 3p syndrome. ( 3757296 )
1986
10
Trisomy 3p syndrome. Report of a new case, due to a chromosomal insertion. ( 6335373 )
1984
11
Duplication 3p syndrome: report of a new case and review of the literature. ( 7246613 )
1981

Variations for Chromosome 3pter-P25 Deletion Syndrome

Expression for Chromosome 3pter-P25 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 3pter-P25 Deletion Syndrome.

Pathways for Chromosome 3pter-P25 Deletion Syndrome

Pathways related to Chromosome 3pter-P25 Deletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.61 SRGAP2 SRGAP3
2
Show member pathways
11.54 ATP2B2 CA2
3 11.32 SRGAP2 SRGAP3
4 11.14 ATP2B2 CA2
5
Show member pathways
10.8 SRGAP2 SRGAP3
6 10.3 SRGAP2 SRGAP3

GO Terms for Chromosome 3pter-P25 Deletion Syndrome

Biological processes related to Chromosome 3pter-P25 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of small GTPase mediated signal transduction GO:0051056 8.96 SRGAP2 SRGAP3
2 negative regulation of cell migration GO:0030336 8.62 SRGAP2 SRGAP3

Molecular functions related to Chromosome 3pter-P25 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rac GTPase binding GO:0048365 8.62 SRGAP2 SRGAP3

Sources for Chromosome 3pter-P25 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
Content
Loading form....