MCID: SX2003
MIFTS: 14

Six2-Related Frontonasal Dysplasia

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Six2-Related Frontonasal Dysplasia

MalaCards integrated aliases for Six2-Related Frontonasal Dysplasia:

Name: Six2-Related Frontonasal Dysplasia 58
Six2-Related Fnd 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


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 kidney and thyroid, and related phenotypes are frontal bossing and ptosis

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:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
5 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
6 absent/hypoplastic paranasal sinuses 58 31 hallmark (90%) Very frequent (99-80%) HP:0005453
7 epicanthus inversus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000537
8 aplasia/hypoplasia of the frontal sinuses 58 31 hallmark (90%) Very frequent (99-80%) HP:0009119
9 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
10 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
13 wide anterior fontanel 58 31 frequent (33%) Frequent (79-30%) HP:0000260
14 posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000358
15 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
16 metopic synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0011330
17 abnormality of the skull base 58 31 frequent (33%) Frequent (79-30%) HP:0002693
18 premature posterior fontanelle closure 58 31 frequent (33%) Frequent (79-30%) HP:0005494
19 prominent palatine ridges 58 31 frequent (33%) Frequent (79-30%) HP:0010291
20 global developmental delay 58 Excluded (0%)
21 abnormality of the kidney 58 Excluded (0%)
22 abnormality of the thyroid gland 58 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:

40
Kidney, 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 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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