MCID: CHR567
MIFTS: 17

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 58 12 30 74
Pde4d Haploinsufficiency Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
pde4d haploinsufficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
chromosome 5q12 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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 ptosis

Description 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:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 ptosis 33 HP:0000508
3 intellectual disability 33 HP:0001249
4 hypotension 33 HP:0002615
5 global developmental delay 33 HP:0001263
6 delayed speech and language development 33 HP:0000750
7 long philtrum 33 HP:0000343
8 micrognathia 33 HP:0000347
9 growth delay 33 HP:0001510
10 disproportionate tall stature 33 HP:0001519
11 large forehead 33 HP:0002003
12 long palpebral fissure 33 HP:0000637
13 generalized hypotonia 33 HP:0001290
14 prominent nose 33 HP:0000448
15 long fingers 33 HP:0100807
16 posteriorly rotated ears 33 HP:0000358
17 esotropia 33 HP:0000565
18 long toe 33 HP:0010511
19 short chin 33 HP:0000331
20 low hanging columella 33 HP:0009765
21 decreased body mass index 33 HP:0045082

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
strabismus
esotropia
long palpebral fissures

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

Skeletal Hands:
long fingers

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Cardiovascular Vascular:
low blood pressure

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

Head And Neck Nose:
prominent nose
prominent columella

Head And Neck Ears:
posteriorly rotated ears

Growth Other:
growth retardation
marfanoid habitus

Skeletal Feet:
long toes

Growth Weight:
decreased body mass index

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 30

Anatomical Context for Chromosome 5q12 Deletion Syndrome

Publications for Chromosome 5q12 Deletion Syndrome

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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