MCID: HYP176
MIFTS: 13

Hypertelorism and Tetralogy of Fallot

Categories: Rare diseases

Aliases & Classifications for Hypertelorism and Tetralogy of Fallot

MalaCards integrated aliases for Hypertelorism and Tetralogy of Fallot:

Name: Hypertelorism and Tetralogy of Fallot 57 20 6

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
hypertelorism and tetralogy of fallot:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypertelorism and Tetralogy of Fallot

MalaCards based summary : Hypertelorism and Tetralogy of Fallot An important gene associated with Hypertelorism and Tetralogy of Fallot is FOXC1 (Forkhead Box C1). Related phenotypes are depressed nasal bridge and hypertelorism

More information from OMIM: 239711

Related Diseases for Hypertelorism and Tetralogy of Fallot

Symptoms & Phenotypes for Hypertelorism and Tetralogy of Fallot

Human phenotypes related to Hypertelorism and Tetralogy of Fallot:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 31 HP:0005280
2 hypertelorism 31 HP:0000316
3 intellectual disability, mild 31 HP:0001256
4 low-set ears 31 HP:0000369
5 epicanthus 31 HP:0000286
6 talipes equinovarus 31 HP:0001762
7 tetralogy of fallot 31 HP:0001636
8 patent ductus arteriosus 31 HP:0001643
9 long philtrum 31 HP:0000343
10 hypospadias 31 HP:0000047
11 blepharophimosis 31 HP:0000581
12 spina bifida occulta 31 HP:0003298
13 posteriorly rotated ears 31 HP:0000358
14 narrow palpebral fissure 31 HP:0045025
15 patent foramen ovale 31 HP:0001655
16 tetralogy of fallot with absent pulmonary valve 31 HP:0011659

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism
epicanthal folds
narrow palpebral fissures

Skeletal Feet:
talipes equinovarus

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary External Genitalia Male:
hypospadias

Neurologic Central Nervous System:
mental retardation, mild

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Cardiovascular Heart:
tetralogy of fallot
patent foramen ovale
absent pulmonary valve

Head And Neck Face:
long philtrum

Skeletal Spine:
spina bifida occulta

Head And Neck Nose:
flat nasal bridge

Clinical features from OMIM®:

239711 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypertelorism and Tetralogy of Fallot

Search Clinical Trials , NIH Clinical Center for Hypertelorism and Tetralogy of Fallot

Genetic Tests for Hypertelorism and Tetralogy of Fallot

Anatomical Context for Hypertelorism and Tetralogy of Fallot

Publications for Hypertelorism and Tetralogy of Fallot

Articles related to Hypertelorism and Tetralogy of Fallot:

# Title Authors PMID Year
1
Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot? 57 61
2333881 1990

Variations for Hypertelorism and Tetralogy of Fallot

ClinVar genetic disease variations for Hypertelorism and Tetralogy of Fallot:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXC1 NM_001453.3(FOXC1):c.666_681del (p.Ile223fs) Deletion Likely pathogenic 375428 rs1057519479 GRCh37: 6:1611345-1611360
GRCh38: 6:1611110-1611125

Expression for Hypertelorism and Tetralogy of Fallot

Search GEO for disease gene expression data for Hypertelorism and Tetralogy of Fallot.

Pathways for Hypertelorism and Tetralogy of Fallot

GO Terms for Hypertelorism and Tetralogy of Fallot

Sources for Hypertelorism and Tetralogy of Fallot

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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