MCID: CHR360
MIFTS: 12

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 58 30 13 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
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 macrocephaly and low-set ears

Description 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:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 low-set ears 33 HP:0000369
3 frontal bossing 33 HP:0002007
4 hydrocephalus 33 HP:0000238
5 ptosis 33 HP:0000508
6 constipation 33 HP:0002019
7 global developmental delay 33 HP:0001263
8 wide nasal bridge 33 HP:0000431
9 short nose 33 HP:0003196
10 microtia 33 HP:0008551
11 epicanthus 33 HP:0000286
12 aganglionic megacolon 33 HP:0002251
13 short philtrum 33 HP:0000322
14 downslanted palpebral fissures 33 HP:0000494
15 microretrognathia 33 HP:0000308
16 narrow palpebral fissure 33 HP:0045025

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

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

Head And Neck Nose:
wide nasal bridge
short nose

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

Neurologic Central Nervous System:
hydrocephalus
delayed psychomotor development
speech abnormalities

Abdomen Gastrointestinal:
constipation
hirschsprung disease

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 30

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

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

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
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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