MCID: CHR567
MIFTS: 21

Chromosome 5q12 Deletion Syndrome

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

Aliases & Classifications for Chromosome 5q12 Deletion Syndrome

MalaCards integrated aliases for Chromosome 5q12 Deletion Syndrome:

Name: Chromosome 5q12 Deletion Syndrome 56 12 29 71
Pde4d Haploinsufficiency Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
pde4d haploinsufficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
chromosome 5q12 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 5q12 Deletion Syndrome

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in deletion of the chromosome 5q12 region.

MalaCards based summary : Chromosome 5q12 Deletion Syndrome, is also known as pde4d haploinsufficiency syndrome. An important gene associated with Chromosome 5q12 Deletion Syndrome is DEL5Q12 (Chromosome 5q12 Deletion Sydrome). Related phenotypes are intellectual disability and depressed nasal bridge

More information from OMIM: 615668

Related Diseases for Chromosome 5q12 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 5q12 Deletion Syndrome

Human phenotypes related to Chromosome 5q12 Deletion Syndrome:

58 31 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
4 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
5 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
6 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
7 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
8 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
9 broad foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001769
10 short metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010743
11 broad metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0001783
12 broad metacarpals 58 31 hallmark (90%) Very frequent (99-80%) HP:0001230
13 broad hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010055
14 broad phalanx 58 31 hallmark (90%) Very frequent (99-80%) HP:0006009
15 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
16 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
17 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
18 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
19 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
20 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
21 accelerated skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0005616
22 cone-shaped epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010579
23 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
24 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
25 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002516
26 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
27 thickened calvaria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002684
28 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
29 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
30 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
31 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
32 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
33 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
34 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
35 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
36 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
37 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
38 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
39 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
40 large forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0002003
41 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
42 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
43 posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000358
44 prominent nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000448
45 hypotension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002615
46 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
47 short middle phalanx of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0005819
48 long palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000637
49 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540
50 irregular vertebral endplates 58 31 occasional (7.5%) Occasional (29-5%) HP:0003301

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
seizures (in some patients)
speech delay
delayed psychomotor development

Head And Neck Face:
micrognathia
long philtrum
large forehead
small chin

Head And Neck Nose:
prominent nose
prominent columella

Growth Weight:
decreased body mass index

Cardiovascular Vascular:
low blood pressure

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Eyes:
strabismus
ptosis
esotropia
long palpebral fissures

Head And Neck Ears:
posteriorly rotated ears

Skeletal Hands:
long fingers

Muscle Soft Tissue:
hypotonia

Growth Other:
growth retardation
marfanoid habitus

Skeletal Feet:
long toes

Clinical features from OMIM:

615668

Drugs & Therapeutics for Chromosome 5q12 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 5q12 Deletion Syndrome

Genetic Tests for Chromosome 5q12 Deletion Syndrome

Genetic tests related to Chromosome 5q12 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 5q12 Deletion Syndrome 29

Anatomical Context for Chromosome 5q12 Deletion Syndrome

Publications for Chromosome 5q12 Deletion Syndrome

Articles related to Chromosome 5q12 Deletion Syndrome:

# Title Authors PMID Year
1
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. 56
24203977 2014
2
5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects. 56
21594994 2011

Variations for Chromosome 5q12 Deletion Syndrome

Expression for Chromosome 5q12 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 5q12 Deletion Syndrome.

Pathways for Chromosome 5q12 Deletion Syndrome

GO Terms for Chromosome 5q12 Deletion Syndrome

Sources for Chromosome 5q12 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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