MCID: ATX041
MIFTS: 21

Ataxia-Telangiectasia-Like Disorder 2

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Skin diseases, Fetal diseases, Rare diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Blood diseases, Immune diseases

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder 2

MalaCards integrated aliases for Ataxia-Telangiectasia-Like Disorder 2:

Name: Ataxia-Telangiectasia-Like Disorder 2 54 71 29 69
Pcna-Related Progressive Neurodegenerative Photosensitivy Syndrome 56
Atld2 71

Characteristics:

Orphanet epidemiological data:

56
pcna-related progressive neurodegenerative photosensitivy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
one amish family has been reported (last curated july 2014)


HPO:

32
ataxia-telangiectasia-like disorder 2:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ataxia-Telangiectasia-Like Disorder 2

OMIM : 54
Ataxia-telangiectasia-like disorder-2 is an autosomal recessive syndrome resulting from defects in DNA excision repair. Affected individuals have a neurodegenerative phenotype characterized by developmental delay, ataxia, and sensorineural hearing loss. Other features include short stature, cutaneous and ocular telangiectasia, and photosensitivity (summary by Baple et al., 2014). For a discussion of genetic heterogeneity of ATLD, see ATLD1 (604391). (615919)

MalaCards based summary : Ataxia-Telangiectasia-Like Disorder 2, is also known as pcna-related progressive neurodegenerative photosensitivy syndrome, and has symptoms including short stature, dysphagia and dysarthria. An important gene associated with Ataxia-Telangiectasia-Like Disorder 2 is PCNA (Proliferating Cell Nuclear Antigen). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 71 Ataxia-telangiectasia-like disorder 2: A neurodegenerative disorder due to defects in DNA excision repair. ATLD2 is characterized by developmental delay, ataxia, sensorineural hearing loss, short stature, cutaneous and ocular telangiectasia, and photosensitivity.

Related Diseases for Ataxia-Telangiectasia-Like Disorder 2

Diseases in the Ataxia-Telangiectasia family:

Ataxia-Telangiectasia-Like Disorder 1 Ataxia-Telangiectasia-Like Disorder 2

Symptoms & Phenotypes for Ataxia-Telangiectasia-Like Disorder 2

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
dysphagia

Skin Nails & Hair- Skin:
photosensitivity
cutaneous telangiectasia
premature aging (in some patients)

Skeletal- Feet:
pes cavus

Muscle Soft Tissue:
muscle weakness, progressive

Growth- Height:
short stature (-3.8 to -5.2 sd)

Neoplasia:
predisposition to uv-induced malignancies

Neurologic- Central Nervous System:
dysarthria
ataxia
delayed development
gait instability
learning difficulties
more
Head And Neck- Head:
microcephaly (in some patients)

Head And Neck- Eyes:
photophobia
conjunctival telangiectasia

Skeletal:
contractures (in some patients)

Head And Neck- Ears:
sensorineural hearing loss, prelingual


Clinical features from OMIM:

615919

Human phenotypes related to Ataxia-Telangiectasia-Like Disorder 2:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 dysphagia 32 HP:0002015
3 dysarthria 32 HP:0001260
4 ataxia 32 HP:0001251
5 unsteady gait 32 HP:0002317
6 microcephaly 32 occasional (7.5%) HP:0000252
7 global developmental delay 32 HP:0001263
8 muscle weakness 32 HP:0001324
9 pes cavus 32 HP:0001761
10 photophobia 32 HP:0000613
11 cerebellar atrophy 32 HP:0001272
12 neurodegeneration 32 HP:0002180
13 conjunctival telangiectasia 32 HP:0000524
14 cutaneous photosensitivity 32 HP:0000992
15 progressive muscle weakness 32 HP:0003323
16 flexion contracture 32 occasional (7.5%) HP:0001371

UMLS symptoms related to Ataxia-Telangiectasia-Like Disorder 2:


ataxia, photophobia

Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Ataxia-Telangiectasia-Like Disorder 2

Genetic Tests for Ataxia-Telangiectasia-Like Disorder 2

Genetic tests related to Ataxia-Telangiectasia-Like Disorder 2:

id Genetic test Affiliating Genes
1 Ataxia-Telangiectasia-Like Disorder 2 29

Anatomical Context for Ataxia-Telangiectasia-Like Disorder 2

MalaCards organs/tissues related to Ataxia-Telangiectasia-Like Disorder 2:

39
Skin

Publications for Ataxia-Telangiectasia-Like Disorder 2

Variations for Ataxia-Telangiectasia-Like Disorder 2

UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Telangiectasia-Like Disorder 2:

71
id Symbol AA change Variation ID SNP ID
1 PCNA p.Ser228Ile VAR_071871 rs369958038

ClinVar genetic disease variations for Ataxia-Telangiectasia-Like Disorder 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PCNA NM_002592.2(PCNA): c.683G> T (p.Ser228Ile) single nucleotide variant Pathogenic rs369958038 GRCh37 Chromosome 20, 5096118: 5096118

Expression for Ataxia-Telangiectasia-Like Disorder 2

Search GEO for disease gene expression data for Ataxia-Telangiectasia-Like Disorder 2.

Pathways for Ataxia-Telangiectasia-Like Disorder 2

GO Terms for Ataxia-Telangiectasia-Like Disorder 2

Sources for Ataxia-Telangiectasia-Like Disorder 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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