MCID: CHR360
MIFTS: 13

Chromosome 4q32.1-Q32.2 Triplication Syndrome

Aliases & Classifications for Chromosome 4q32.1-Q32.2 Triplication Syndrome

MalaCards integrated aliases for Chromosome 4q32.1-Q32.2 Triplication Syndrome:

Name: Chromosome 4q32.1-Q32.2 Triplication Syndrome 56 29 13 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
one family has been reported (as of october 2010)


HPO:

31
chromosome 4q32.1-q32.2 triplication syndrome:
Inheritance autosomal dominant inheritance


Summaries for Chromosome 4q32.1-Q32.2 Triplication Syndrome

MalaCards based summary : Chromosome 4q32.1-Q32.2 Triplication Syndrome and has symptoms including constipation An important gene associated with Chromosome 4q32.1-Q32.2 Triplication Syndrome is TRIP4Q32.1Q32.2 (Chromosome 4q32.1-Q32.2 Triplication Syndrome). Related phenotypes are global developmental delay and macrocephaly

More information from OMIM: 613603

Related Diseases for Chromosome 4q32.1-Q32.2 Triplication Syndrome

Symptoms & Phenotypes for Chromosome 4q32.1-Q32.2 Triplication Syndrome

Human phenotypes related to Chromosome 4q32.1-Q32.2 Triplication Syndrome:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 macrocephaly 31 HP:0000256
3 wide nasal bridge 31 HP:0000431
4 short nose 31 HP:0003196
5 microtia 31 HP:0008551
6 hydrocephalus 31 HP:0000238
7 frontal bossing 31 HP:0002007
8 low-set ears 31 HP:0000369
9 epicanthus 31 HP:0000286
10 ptosis 31 HP:0000508
11 downslanted palpebral fissures 31 HP:0000494
12 aganglionic megacolon 31 HP:0002251
13 constipation 31 HP:0002019
14 short philtrum 31 HP:0000322
15 microretrognathia 31 HP:0000308
16 narrow palpebral fissure 31 HP:0045025

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
hydrocephalus
delayed psychomotor development
speech abnormalities

Head And Neck Ears:
low-set ears
small ears
malformed ears
squared-off ears

Abdomen Gastrointestinal:
constipation
hirschsprung disease

Head And Neck Nose:
wide nasal bridge
short nose

Head And Neck Face:
frontal bossing
short philtrum
microretrognathia
long midface
hypoplastic zygoma

Head And Neck Eyes:
ptosis
downslanting palpebral fissures
epicanthal folds
small palpebral fissures

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Clinical features from OMIM:

613603

UMLS symptoms related to Chromosome 4q32.1-Q32.2 Triplication Syndrome:


constipation

Drugs & Therapeutics for Chromosome 4q32.1-Q32.2 Triplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 4q32.1-Q32.2 Triplication Syndrome

Genetic Tests for Chromosome 4q32.1-Q32.2 Triplication Syndrome

Genetic tests related to Chromosome 4q32.1-Q32.2 Triplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 4q32.1-Q32.2 Triplication Syndrome 29

Anatomical Context for Chromosome 4q32.1-Q32.2 Triplication Syndrome

Publications for Chromosome 4q32.1-Q32.2 Triplication Syndrome

Articles related to Chromosome 4q32.1-Q32.2 Triplication Syndrome:

# Title Authors PMID Year
1
4.3-Mb triplication of 4q32.1-q32.2: report of a family through two generations. 56
19764020 2009

Variations for Chromosome 4q32.1-Q32.2 Triplication Syndrome

Expression for Chromosome 4q32.1-Q32.2 Triplication Syndrome

Search GEO for disease gene expression data for Chromosome 4q32.1-Q32.2 Triplication Syndrome.

Pathways for Chromosome 4q32.1-Q32.2 Triplication Syndrome

GO Terms for Chromosome 4q32.1-Q32.2 Triplication Syndrome

Sources for Chromosome 4q32.1-Q32.2 Triplication 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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