MCID: SX2003
MIFTS: 18

Six2-Related Frontonasal Dysplasia

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Six2-Related Frontonasal Dysplasia

MalaCards integrated aliases for Six2-Related Frontonasal Dysplasia:

Name: Six2-Related Frontonasal Dysplasia 59
Six2-Related Fnd 59

Classifications:



Summaries for Six2-Related Frontonasal Dysplasia

MalaCards based summary : Six2-Related Frontonasal Dysplasia, is also known as six2-related fnd. An important gene associated with Six2-Related Frontonasal Dysplasia is SIX2 (SIX Homeobox 2). Affiliated tissues include skin, kidney and bone, and related phenotypes are macrocephaly and hypertelorism

Related Diseases for Six2-Related Frontonasal Dysplasia

Diseases in the Frontonasal Dysplasia 1 family:

Frontonasal Dysplasia 2 Frontonasal Dysplasia 3
Six2-Related Frontonasal Dysplasia

Symptoms & Phenotypes for Six2-Related Frontonasal Dysplasia

Human phenotypes related to Six2-Related Frontonasal Dysplasia:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
4 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
5 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
6 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
7 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
8 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
9 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
10 wide anterior fontanel 59 32 frequent (33%) Frequent (79-30%) HP:0000260
11 abnormality of the skull base 59 32 frequent (33%) Frequent (79-30%) HP:0002693
12 posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000358
13 small for gestational age 59 32 frequent (33%) Frequent (79-30%) HP:0001518
14 absent/hypoplastic paranasal sinuses 59 32 hallmark (90%) Very frequent (99-80%) HP:0005453
15 epicanthus inversus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000537
16 premature posterior fontanelle closure 59 32 frequent (33%) Frequent (79-30%) HP:0005494
17 aplasia/hypoplasia of the frontal sinuses 59 32 hallmark (90%) Very frequent (99-80%) HP:0009119
18 prominent palatine ridges 59 32 frequent (33%) Frequent (79-30%) HP:0010291
19 metopic synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0011330
20 global developmental delay 59 Excluded (0%)
21 abnormality of the kidney 59 Excluded (0%)
22 abnormality of the thyroid gland 59 Excluded (0%)

Drugs & Therapeutics for Six2-Related Frontonasal Dysplasia

Search Clinical Trials , NIH Clinical Center for Six2-Related Frontonasal Dysplasia

Genetic Tests for Six2-Related Frontonasal Dysplasia

Anatomical Context for Six2-Related Frontonasal Dysplasia

MalaCards organs/tissues related to Six2-Related Frontonasal Dysplasia:

41
Skin, Kidney, Bone, Eye, Thyroid

Publications for Six2-Related Frontonasal Dysplasia

Variations for Six2-Related Frontonasal Dysplasia

Expression for Six2-Related Frontonasal Dysplasia

Search GEO for disease gene expression data for Six2-Related Frontonasal Dysplasia.

Pathways for Six2-Related Frontonasal Dysplasia

GO Terms for Six2-Related Frontonasal Dysplasia

Sources for Six2-Related Frontonasal Dysplasia

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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