MCID: CHR567
MIFTS: 17

Chromosome 5q12 Deletion Syndrome

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

Aliases & Classifications for Chromosome 5q12 Deletion Syndrome

MalaCards integrated aliases for Chromosome 5q12 Deletion Syndrome:

Name: Chromosome 5q12 Deletion Syndrome 57 12 29 73
Pde4d Haploinsufficiency Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
pde4d haploinsufficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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 short chin and long philtrum

Description from OMIM: 615668

Related Diseases for Chromosome 5q12 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 5q12 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
strabismus
esotropia
long palpebral fissures

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

Head And Neck Ears:
posteriorly rotated ears

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

Skeletal Hands:
long fingers

Growth Other:
growth retardation
marfanoid habitus

Skeletal Feet:
long toes

Growth Weight:
decreased body mass index


Clinical features from OMIM:

615668

Human phenotypes related to Chromosome 5q12 Deletion Syndrome:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 short chin 32 HP:0000331
2 long philtrum 32 HP:0000343
3 micrognathia 32 HP:0000347
4 posteriorly rotated ears 32 HP:0000358
5 prominent nose 32 HP:0000448
6 ptosis 32 HP:0000508
7 esotropia 32 HP:0000565
8 long palpebral fissure 32 HP:0000637
9 delayed speech and language development 32 HP:0000750
10 intellectual disability 32 HP:0001249
11 seizures 32 occasional (7.5%) HP:0001250
12 global developmental delay 32 HP:0001263
13 generalized hypotonia 32 HP:0001290
14 growth delay 32 HP:0001510
15 disproportionate tall stature 32 HP:0001519
16 large forehead 32 HP:0002003
17 hypotension 32 HP:0002615
18 low hanging columella 32 HP:0009765
19 long toe 32 HP:0010511
20 decreased body mass index 32 HP:0045082
21 long fingers 32 HP:0100807

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

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 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
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