MCID: ATX041
MIFTS: 22

Ataxia-Telangiectasia-Like Disorder 2

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

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder 2

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

Name: Ataxia-Telangiectasia-Like Disorder 2 53 71 28 69
Atld2 53 71
Pcna-Related Progressive Neurodegenerative Photosensitivy Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
pcna-related progressive neurodegenerative photosensitivy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
ataxia-telangiectasia-like disorder 2:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ataxia-Telangiectasia-Like Disorder 2

OMIM : 53 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, photophobia and muscle weakness. 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:

53
Neurologic Central Nervous System:
ataxia
dysarthria
neurodegeneration
cerebellar atrophy
gait instability
more
Abdomen Gastroin testinal:
dysphagia

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

Head And Neck Eyes:
photophobia
conjunctival telangiectasia

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 photophobia 31 HP:0000613
3 muscle weakness 31 HP:0001324
4 dysarthria 31 HP:0001260
5 dysphagia 31 HP:0002015
6 global developmental delay 31 HP:0001263
7 microcephaly 31 occasional (7.5%) HP:0000252
8 short stature 31 HP:0004322
9 flexion contracture 31 occasional (7.5%) HP:0001371
10 pes cavus 31 HP:0001761
11 conjunctival telangiectasia 31 HP:0000524
12 neurodegeneration 31 HP:0002180
13 cutaneous photosensitivity 31 HP:0000992
14 cerebellar atrophy 31 HP:0001272
15 unsteady gait 31 HP:0002317
16 progressive muscle weakness 31 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 28 PCNA

Anatomical Context for Ataxia-Telangiectasia-Like Disorder 2

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

38
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
# 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

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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