ATLD2
MCID: ATX041
MIFTS: 23

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 57 72 29 6 39 70
Atld2 57 72
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
pcna-related progressive neurodegenerative photosensitivity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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) (Updated 20-May-2021)

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 eye, and related phenotypes are hearing impairment and global developmental delay

UniProtKB/Swiss-Prot : 72 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:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
4 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
5 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
6 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
7 neurodegeneration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002180
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
10 retinal telangiectasia 58 31 frequent (33%) Frequent (79-30%) HP:0007763
11 absent pubertal growth spurt 58 31 frequent (33%) Frequent (79-30%) HP:0031087
12 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
13 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
14 neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002664
15 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
16 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
17 flexion contracture 31 occasional (7.5%) HP:0001371
18 ataxia 31 HP:0001251
19 dysarthria 31 HP:0001260
20 dysphagia 31 HP:0002015
21 conjunctival telangiectasia 31 HP:0000524
22 pes cavus 31 HP:0001761
23 unsteady gait 31 HP:0002317
24 progressive muscle weakness 31 HP:0003323

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
ataxia
dysarthria
cerebellar atrophy
neurodegeneration
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 (Updated 20-May-2021)

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:

40
Eye

Publications for Ataxia-Telangiectasia-Like Disorder 2

Articles related to Ataxia-Telangiectasia-Like Disorder 2:

# Title Authors PMID Year
1
Hypomorphic PCNA mutation underlies a human DNA repair disorder. 6 57
24911150 2014

Variations for Ataxia-Telangiectasia-Like Disorder 2

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PCNA NM_182649.2(PCNA):c.443G>C (p.Cys148Ser) SNV Likely pathogenic 803596 rs1274412848 GRCh37: 20:5098255-5098255
GRCh38: 20:5117609-5117609
2 PCNA NM_182649.2(PCNA):c.683G>T (p.Ser228Ile) SNV Uncertain significance 143043 rs369958038 GRCh37: 20:5096118-5096118
GRCh38: 20:5115472-5115472

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

72
# Symbol AA change Variation ID SNP ID
1 PCNA p.Ser228Ile VAR_071871 rs369958038

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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