MCID: CHR567
MIFTS: 19

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

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 seizures and intellectual disability

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 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
3 ptosis 58 31 Occasional (29-5%) HP:0000508
4 hypotension 58 31 Occasional (29-5%) HP:0002615
5 micrognathia 58 31 Occasional (29-5%) HP:0000347
6 long philtrum 58 31 Occasional (29-5%) HP:0000343
7 posteriorly rotated ears 58 31 Occasional (29-5%) HP:0000358
8 large forehead 58 31 Occasional (29-5%) HP:0002003
9 long palpebral fissure 58 31 Occasional (29-5%) HP:0000637
10 prominent nose 58 31 Occasional (29-5%) HP:0000448
11 esotropia 58 31 Occasional (29-5%) HP:0000565
12 malar flattening 58 Very frequent (99-80%)
13 hypertelorism 58 Occasional (29-5%)
14 obesity 58 Occasional (29-5%)
15 frontal bossing 58 Occasional (29-5%)
16 coarse facial features 58 Frequent (79-30%)
17 hearing impairment 58 Occasional (29-5%)
18 global developmental delay 31 HP:0001263
19 depressed nasal bridge 58 Very frequent (99-80%)
20 mandibular prognathia 58 Frequent (79-30%)
21 increased intracranial pressure 58 Occasional (29-5%)
22 delayed speech and language development 31 HP:0000750
23 pes planus 58 Occasional (29-5%)
24 thickened calvaria 58 Occasional (29-5%)
25 short nose 58 Very frequent (99-80%)
26 brachydactyly 58 Very frequent (99-80%)
27 cryptorchidism 58 Occasional (29-5%)
28 neonatal hypotonia 58 Occasional (29-5%)
29 intrauterine growth retardation 58 Frequent (79-30%)
30 short metacarpal 58 Very frequent (99-80%)
31 visual impairment 58 Occasional (29-5%)
32 brachycephaly 58 Occasional (29-5%)
33 short philtrum 58 Frequent (79-30%)
34 generalized hypotonia 31 HP:0001290
35 cone-shaped epiphysis 58 Frequent (79-30%)
36 upper limb undergrowth 58 Occasional (29-5%)
37 flat face 58 Very frequent (99-80%)
38 growth delay 31 HP:0001510
39 postnatal growth retardation 58 Frequent (79-30%)
40 short toe 58 Very frequent (99-80%)
41 joint laxity 58 Occasional (29-5%)
42 hypospadias 58 Occasional (29-5%)
43 thin upper lip vermilion 58 Occasional (29-5%)
44 short chin 31 HP:0000331
45 long toe 31 HP:0010511
46 low hanging columella 31 HP:0009765
47 hypoplasia of the maxilla 58 Frequent (79-30%)
48 disproportionate tall stature 31 HP:0001519
49 abnormality of dental enamel 58 Occasional (29-5%)
50 elevated circulating parathyroid hormone level 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

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

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

Growth Other:
growth retardation
marfanoid habitus

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Eyes:
ptosis
strabismus
esotropia
long palpebral fissures

Head And Neck Ears:
posteriorly rotated ears

Skeletal Hands:
long fingers

Cardiovascular Vascular:
low blood pressure

Muscle Soft Tissue:
hypotonia

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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