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 59
Fenton-Wilkinson-Toselano Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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 12.6

Symptoms & Phenotypes for Ataxia-Photosensitivity-Short Stature Syndrome

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

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
4 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
7 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
8 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
9 cubitus valgus 59 32 frequent (33%) Frequent (79-30%) HP:0002967
10 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
11 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
12 bilateral single transverse palmar creases 59 32 hallmark (90%) Very frequent (99-80%) HP:0007598
13 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
14 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
15 abnormality of movement 59 Very frequent (99-80%)
16 malformation of the heart and great vessels 59 Frequent (79-30%)
17 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680

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:

41
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 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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