ATLD2
MCID: ATX041
MIFTS: 22

Ataxia-Telangiectasia-Like Disorder 2 (ATLD2)

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

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder 2

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

Name: Ataxia-Telangiectasia-Like Disorder 2 58 76 30 6 41 74
Atld2 58 76
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
pcna-related progressive neurodegenerative photosensitivity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
ataxia-telangiectasia-like disorder 2:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ataxia-Telangiectasia-Like Disorder 2

OMIM : 58 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 eye, and related phenotypes are microcephaly and flexion contracture

UniProtKB/Swiss-Prot : 76 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

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

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 occasional (7.5%) HP:0000252
2 flexion contracture 33 occasional (7.5%) HP:0001371
3 ataxia 33 HP:0001251
4 dysarthria 33 HP:0001260
5 dysphagia 33 HP:0002015
6 global developmental delay 33 HP:0001263
7 short stature 33 HP:0004322
8 photophobia 33 HP:0000613
9 pes cavus 33 HP:0001761
10 conjunctival telangiectasia 33 HP:0000524
11 neurodegeneration 33 HP:0002180
12 cutaneous photosensitivity 33 HP:0000992
13 cerebellar atrophy 33 HP:0001272
14 progressive muscle weakness 33 HP:0003323
15 unsteady gait 33 HP:0002317

Symptoms via clinical synopsis from OMIM:

58
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

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 30 PCNA

Anatomical Context for Ataxia-Telangiectasia-Like Disorder 2

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

42
Skin, Eye

Publications for Ataxia-Telangiectasia-Like Disorder 2

Articles related to Ataxia-Telangiectasia-Like Disorder 2:

# Title Authors Year
1
Hypomorphic PCNA mutation underlies a human DNA repair disorder. ( 24911150 )
2014

Variations for Ataxia-Telangiectasia-Like Disorder 2

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

76
# 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 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
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