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 57 75 29 6 40 73
Atld2 57 75
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
pcna-related progressive neurodegenerative photosensitivity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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 : 57 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 atld2, and has symptoms including ataxia and photophobia. An important gene associated with Ataxia-Telangiectasia-Like Disorder 2 is PCNA (Proliferating Cell Nuclear Antigen). Affiliated tissues include skin, and related phenotypes are ataxia and dysarthria

UniProtKB/Swiss-Prot : 75 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:

57
Neurologic Central Nervous System:
ataxia
dysarthria
neurodegeneration
cerebellar atrophy
gait instability
more
Head And Neck Eyes:
photophobia
conjunctival telangiectasia

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

Muscle Soft Tissue:
muscle weakness, progressive

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

Neoplasia:
predisposition to uv-induced malignancies

Abdomen Gastrointestinal:
dysphagia

Skeletal Feet:
pes cavus

Head And Neck Head:
microcephaly (in some patients)

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

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


ataxia, photophobia

Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder 2

Search Clinical Trials , 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:

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

Anatomical Context for Ataxia-Telangiectasia-Like Disorder 2

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

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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:

75
# 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
# 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
2 PCNA NM_002592.2(PCNA): c.683G> T (p.Ser228Ile) single nucleotide variant Pathogenic rs369958038 GRCh38 Chromosome 20, 5115472: 5115472

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
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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