MCID: ATX036
MIFTS: 15

Ataxia-Photosensitivity-Short Stature Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ataxia-Photosensitivity-Short Stature Syndrome

MalaCards integrated aliases for Ataxia-Photosensitivity-Short Stature Syndrome:

Name: Ataxia-Photosensitivity-Short Stature Syndrome 60
Fenton-Wilkinson-Toselano Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
ataxia-photosensitivity-short stature syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

Classifications:



Summaries for Ataxia-Photosensitivity-Short Stature Syndrome

MalaCards based summary : Ataxia-Photosensitivity-Short Stature Syndrome, also known as fenton-wilkinson-toselano syndrome, is related to fenton wilkinson toselano syndrome. Affiliated tissues include skin and heart, and related phenotypes are high palate and ataxia

Related Diseases for Ataxia-Photosensitivity-Short Stature Syndrome

Diseases related to Ataxia-Photosensitivity-Short Stature Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fenton wilkinson toselano syndrome 12.7

Symptoms & Phenotypes for Ataxia-Photosensitivity-Short Stature Syndrome

Human phenotypes related to Ataxia-Photosensitivity-Short Stature Syndrome:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
5 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
6 reduced tendon reflexes 60 33 hallmark (90%) Very frequent (99-80%) HP:0001315
7 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
8 bilateral single transverse palmar creases 60 33 hallmark (90%) Very frequent (99-80%) HP:0007598
9 urticaria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001025
10 cutaneous photosensitivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000992
11 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
12 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
13 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
14 cubitus valgus 60 33 frequent (33%) Frequent (79-30%) HP:0002967
15 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
16 abnormality of movement 60 Very frequent (99-80%)
17 malformation of the heart and great vessels 60 Frequent (79-30%)

Drugs & Therapeutics for Ataxia-Photosensitivity-Short Stature Syndrome

Search Clinical Trials , NIH Clinical Center for Ataxia-Photosensitivity-Short Stature Syndrome

Genetic Tests for Ataxia-Photosensitivity-Short Stature Syndrome

Anatomical Context for Ataxia-Photosensitivity-Short Stature Syndrome

MalaCards organs/tissues related to Ataxia-Photosensitivity-Short Stature Syndrome:

42
Skin, Heart

Publications for Ataxia-Photosensitivity-Short Stature Syndrome

Variations for Ataxia-Photosensitivity-Short Stature Syndrome

Expression for Ataxia-Photosensitivity-Short Stature Syndrome

Search GEO for disease gene expression data for Ataxia-Photosensitivity-Short Stature Syndrome.

Pathways for Ataxia-Photosensitivity-Short Stature Syndrome

GO Terms for Ataxia-Photosensitivity-Short Stature Syndrome

Sources for Ataxia-Photosensitivity-Short Stature 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
Content
Loading form....