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 57 29 13 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 low-set ears 32 HP:0000369
3 frontal bossing 32 HP:0002007
4 hydrocephalus 32 HP:0000238
5 ptosis 32 HP:0000508
6 constipation 32 HP:0002019
7 global developmental delay 32 HP:0001263
8 wide nasal bridge 32 HP:0000431
9 short nose 32 HP:0003196
10 microtia 32 HP:0008551
11 epicanthus 32 HP:0000286
12 aganglionic megacolon 32 HP:0002251
13 short philtrum 32 HP:0000322
14 downslanted palpebral fissures 32 HP:0000494
15 microretrognathia 32 HP:0000308
16 narrow palpebral fissure 32 HP:0045025

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

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 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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