Ataxia-Telangiectasia-Like Disorder 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ATLD1 MCID: ATX040 MIFTS: 45	Ataxia-Telangiectasia-Like Disorder 1 (ATLD1) Categories: Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder 1

MalaCards integrated aliases for Ataxia-Telangiectasia-Like Disorder 1:

Name: Ataxia-Telangiectasia-Like Disorder 1 ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Ataxia-Telangiectasia-Like Disorder ⁶⁰ ⁷⁶ ³⁰ ¹³ ⁵⁶ ⁴¹

Atld ⁵⁸ ⁶⁰ ⁷⁶

Atld1 ⁵⁸ ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

ataxia-telangiectasia-like disorder
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in early childhood

HPO:

³³

ataxia-telangiectasia-like disorder 1:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Immune diseases Eye diseases Reproductive diseases Endocrine diseases Blood diseases Ear diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare neurological diseases

Rare skin diseases

External Ids:

OMIM ⁵⁸ 604391

MeSH ⁴⁵ D002524 D049914

UMLS via Orphanet ⁷⁵ C1858391 C1859598

Orphanet ⁶⁰ ORPHA251347

MedGen ⁴³ C1858391 C4012790

SNOMED-CT via HPO ⁷⁰ 103606006 10810001 111533001 more

UMLS ⁷⁴ C4012790

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Summaries for Ataxia-Telangiectasia-Like Disorder 1

OMIM : ⁵⁸ Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT; 208900), but telangiectases and immune deficiency are not present in ATLD1 (summary by Hernandez et al., 1993 and Stewart et al., 1999). (604391)

MalaCards based summary : Ataxia-Telangiectasia-Like Disorder 1, also known as ataxia-telangiectasia-like disorder, is related to ataxia-telangiectasia and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, and has symptoms including gait ataxia and dysdiadochokinesis. An important gene associated with Ataxia-Telangiectasia-Like Disorder 1 is MRE11 (MRE11 Homolog, Double Strand Break Repair Nuclease), and among its related pathways/superpathways are DNA Damage Response and DNA Double Strand Break Response. Affiliated tissues include eye, skin and lung, and related phenotypes are dysarthria and chorea

UniProtKB/Swiss-Prot : ⁷⁶ Ataxia-telangiectasia-like disorder 1: A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis.

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Related Diseases for Ataxia-Telangiectasia-Like Disorder 1

Diseases in the Ataxia-Telangiectasia family:

Ataxia-Telangiectasia-Like Disorder 1

Ataxia-Telangiectasia-Like Disorder 2

Diseases related to Ataxia-Telangiectasia-Like Disorder 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	ataxia-telangiectasia	30.1	MRE11 NBN
2	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	11.3
3	ataxia-telangiectasia-like disorder 2	11.1
4	ataxia and polyneuropathy, adult-onset	10.3
5	telangiectasis	10.3
6	lung cancer susceptibility 3	10.1
7	hypogonadism	10.1
8	adenocarcinoma	10.1
9	cerebellar degeneration	10.1
10	alpha-thalassemia/mental retardation syndrome, x-linked	9.9	MRE11 NBN
11	nijmegen breakage syndrome	9.9	MRE11 NBN
12	hereditary breast ovarian cancer syndrome	9.8	MRE11 NBN
13	werner syndrome	9.8	MRE11 NBN
14	fanconi anemia, complementation group a	9.7	MRE11 NBN

Graphical network of the top 20 diseases related to Ataxia-Telangiectasia-Like Disorder 1:

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Symptoms & Phenotypes for Ataxia-Telangiectasia-Like Disorder 1

Human phenotypes related to Ataxia-Telangiectasia-Like Disorder 1:

⁶⁰ ³³ (show all 41)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysarthria ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001260
2	chorea ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002072
3	gait ataxia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002066
4	dysmetria ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001310
5	intention tremor ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002080
6	dystonia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001332
7	mask-like facies ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000298
8	cerebellar atrophy ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001272
9	generalized hypotonia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001290
10	oculomotor apraxia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000657
11	cerebellar vermis hypoplasia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001320
12	absent achilles reflex ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0003438
13	slow saccadic eye movements ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000514
14	orofacial dyskinesia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002310
15	dilated fourth ventricle ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002198
16	enlarged interhemispheric fissure ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0100953
17	delayed speech and language development ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000750
18	myoclonus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001336
19	pes cavus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001761
20	joint laxity ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001388
21	hypergonadotropic hypogonadism ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000815
22	dysdiadochokinesis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002075
23	sensorimotor neuropathy ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0007141
24	frequent falls ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002359
25	drooling ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002307
26	hyperactive deep tendon reflexes ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0006801
27	abnormality of ocular smooth pursuit ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000617
28	gaze-evoked nystagmus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000640
29	vertical nystagmus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0010544
30	small posterior fossa ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0040010
31	dysmetric saccades ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000641
32	short stature ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0004322
33	ataxia ⁶⁰		Very frequent (99-80%)
34	reduced tendon reflexes ⁶⁰		Frequent (79-30%)
35	hyporeflexia ³³			HP:0001265
36	lower limb spasticity ³³			HP:0002061
37	distal amyotrophy ³³			HP:0003693
38	hypometric saccades ³³			HP:0000571
39	increased sensitivity to ionizing radiation ³³			HP:0011133
40	telangiectasia ³³			HP:0001009
41	impaired smooth pursuit ³³			HP:0007772

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
dysarthria
chorea
gait ataxia
dystonia
dysdiadochokinesis
more

Head And Neck Eyes:
oculomotor apraxia
hypometric saccades
impaired smooth pursuit
gaze-evoked nystagmus

Laboratory Abnormalities:
cells show increased sensitivity to ionizing radiation
defective dna repair
chromosomal instability

Neurologic Peripheral Nervous System:
hyporeflexia

Muscle Soft Tissue:
distal muscle wasting, mild

Clinical features from OMIM:

604391

UMLS symptoms related to Ataxia-Telangiectasia-Like Disorder 1:

gait ataxia, dysdiadochokinesis

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Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder 1

Interventional clinical trials:

#	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 1

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Genetic Tests for Ataxia-Telangiectasia-Like Disorder 1

Genetic tests related to Ataxia-Telangiectasia-Like Disorder 1:

#	Genetic test	Affiliating Genes
1	Ataxia-Telangiectasia-Like Disorder 1 ³⁰
2	Ataxia-Telangiectasia-Like Disorder ³⁰

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Anatomical Context for Ataxia-Telangiectasia-Like Disorder 1

MalaCards organs/tissues related to Ataxia-Telangiectasia-Like Disorder 1:

⁴²

Eye, Skin, Lung, Neutrophil

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Publications for Ataxia-Telangiectasia-Like Disorder 1

Articles related to Ataxia-Telangiectasia-Like Disorder 1:

(show all 14)

#	Title	Authors	Year
1	Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant. ( 30584599 )	Sedghi M...Tajsharghi H	2018
2	Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. ( 29170652 )	Federighi P....Rufa A.	2017
3	Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? ( 24733832 )	Yoshida T....Heike T.	2014
4	Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. ( 23436002 )	Palmeri S....Federico A.	2013
5	Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. ( 20087742 )	Oba D....Mizutani S.	2010
6	Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. ( 19732584 )	Uchisaka N....Morio T.	2009
7	Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. ( 18652530 )	Alsbeih G....Al-Harbi N.	2008
8	Ophthalmic features of ataxia telangiectasia-like disorder. ( 18083591 )	Khan A.O....Salih M.A.	2008
9	Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. ( 15574463 )	Fernet M....Koenig M.	2005
10	Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. ( 15279810 )	Taylor A.M....Byrd P.J.	2004
11	MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. ( 15269180 )	Delia D....Chessa L.	2004
12	Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes. ( 12966088 )	Lee J.H....Paull T.T.	2003
13	Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder. ( 11481721 )	Klein C....Taylor A.M.	2001
14	The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. ( 10612394 )	Stewart G.S....Taylor A.M.R.	1999

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Genes for Ataxia-Telangiectasia-Like Disorder 1

Genes related to Ataxia-Telangiectasia-Like Disorder 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MRE11	MRE11 Homolog, Double Strand Break Repair Nuclease	Protein Coding	1592.5	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	15269180 20050888 15574463 (more) 10612394 11371508 8684395 24332946 8445618 22863007 15269180 15296753 20087742 15234984 11850399 12966088
2	NBN	Nibrin	Protein Coding	20.97	Novoseek inferred ⁵⁶	12966088 15234984 18575580
3	MIR548L	MicroRNA 548l	RNA Gene	8.91	GeneCards inferred via : Variants (show sections)
4	ANKRD49	Ankyrin Repeat Domain 49	Protein Coding	8.68	GeneCards inferred via : Variants (show sections)

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Variations for Ataxia-Telangiectasia-Like Disorder 1

UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Telangiectasia-Like Disorder 1:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	MRE11	p.Asn117Ser	VAR_008513	rs137852760

ClinVar genetic disease variations for Ataxia-Telangiectasia-Like Disorder 1:

⁶ (show top 50) (show all 513)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MRE11	NM_005591.3(MRE11): c.140C> T (p.Ala47Val)	single nucleotide variant	Uncertain significance	rs730880378	GRCh37	Chromosome 11, 94224012: 94224012
2	MRE11	NM_005591.3(MRE11): c.140C> T (p.Ala47Val)	single nucleotide variant	Uncertain significance	rs730880378	GRCh38	Chromosome 11, 94490846: 94490846
3	MRE11	NM_005591.3(MRE11): c.969A> G (p.Pro323=)	single nucleotide variant	Benign/Likely benign	rs13447633	GRCh38	Chromosome 11, 94470519: 94470519
4	MRE11	NM_005591.3(MRE11): c.969A> G (p.Pro323=)	single nucleotide variant	Benign/Likely benign	rs13447633	GRCh37	Chromosome 11, 94203685: 94203685
5	MRE11	NM_005591.3(MRE11): c.845+11T> C	single nucleotide variant	Benign/Likely benign	rs140145979	GRCh38	Chromosome 11, 94471563: 94471563
6	MRE11	NM_005591.3(MRE11): c.845+11T> C	single nucleotide variant	Benign/Likely benign	rs140145979	GRCh37	Chromosome 11, 94204729: 94204729
7	MRE11	NM_005591.3(MRE11): c.822T> C (p.Leu274=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137868143	GRCh38	Chromosome 11, 94471597: 94471597
8	MRE11	NM_005591.3(MRE11): c.822T> C (p.Leu274=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137868143	GRCh37	Chromosome 11, 94204763: 94204763
9	MRE11	NM_005591.3(MRE11): c.771A> G (p.Glu257=)	single nucleotide variant	Benign/Likely benign	rs13447632	GRCh38	Chromosome 11, 94471648: 94471648
10	MRE11	NM_005591.3(MRE11): c.771A> G (p.Glu257=)	single nucleotide variant	Benign/Likely benign	rs13447632	GRCh37	Chromosome 11, 94204814: 94204814
11	MRE11	NM_005591.3(MRE11): c.426C> T (p.Asp142=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs3218740	GRCh38	Chromosome 11, 94478853: 94478853
12	MRE11	NM_005591.3(MRE11): c.426C> T (p.Asp142=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs3218740	GRCh37	Chromosome 11, 94212019: 94212019
13	MRE11	NM_005591.3(MRE11): c.120C> T (p.Leu40=)	single nucleotide variant	Benign/Likely benign	rs1805364	GRCh38	Chromosome 11, 94490866: 94490866
14	MRE11	NM_005591.3(MRE11): c.120C> T (p.Leu40=)	single nucleotide variant	Benign/Likely benign	rs1805364	GRCh37	Chromosome 11, 94224032: 94224032
15	MRE11	NM_005591.3(MRE11): c.77T> C (p.Met26Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs372068015	GRCh38	Chromosome 11, 94490909: 94490909
16	MRE11	NM_005591.3(MRE11): c.77T> C (p.Met26Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs372068015	GRCh37	Chromosome 11, 94224075: 94224075
17	MRE11	NM_005591.3(MRE11): c.2083_2085dupGAT (p.Asp695_Pro696insAsp)	duplication	Uncertain significance	rs779409748	GRCh37	Chromosome 11, 94153333: 94153335
18	MRE11	NM_005591.3(MRE11): c.2083_2085dupGAT (p.Asp695_Pro696insAsp)	duplication	Uncertain significance	rs779409748	GRCh38	Chromosome 11, 94420167: 94420169
19	MRE11	NM_005591.3(MRE11): c.2076T> A (p.Asp692Glu)	single nucleotide variant	Uncertain significance	rs778093337	GRCh37	Chromosome 11, 94153342: 94153342
20	MRE11	NM_005591.3(MRE11): c.2076T> A (p.Asp692Glu)	single nucleotide variant	Uncertain significance	rs778093337	GRCh38	Chromosome 11, 94420176: 94420176
21	MRE11	NM_005591.3(MRE11): c.2070+2T> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs786202801	GRCh37	Chromosome 11, 94163075: 94163075
22	MRE11	NM_005591.3(MRE11): c.2070+2T> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs786202801	GRCh38	Chromosome 11, 94429909: 94429909
23	MRE11	NM_005591.3(MRE11): c.2049G> A (p.Gly683=)	single nucleotide variant	Likely benign	rs758931835	GRCh37	Chromosome 11, 94163098: 94163098
24	MRE11	NM_005591.3(MRE11): c.2049G> A (p.Gly683=)	single nucleotide variant	Likely benign	rs758931835	GRCh38	Chromosome 11, 94429932: 94429932
25	MRE11	NM_005591.3(MRE11): c.1834G> C (p.Val612Leu)	single nucleotide variant	Uncertain significance	rs371719012	GRCh37	Chromosome 11, 94179009: 94179009
26	MRE11	NM_005591.3(MRE11): c.1834G> C (p.Val612Leu)	single nucleotide variant	Uncertain significance	rs371719012	GRCh38	Chromosome 11, 94445843: 94445843
27	MRE11	NM_005591.3(MRE11): c.1758G> A (p.Ser586=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs766372720	GRCh37	Chromosome 11, 94180410: 94180410
28	MRE11	NM_005591.3(MRE11): c.1758G> A (p.Ser586=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs766372720	GRCh38	Chromosome 11, 94447244: 94447244
29	MRE11	NM_005591.3(MRE11): c.1726C> T (p.Arg576Ter)	single nucleotide variant	Pathogenic	rs774277300	GRCh38	Chromosome 11, 94447276: 94447276
30	MRE11	NM_005591.3(MRE11): c.1726C> T (p.Arg576Ter)	single nucleotide variant	Pathogenic	rs774277300	GRCh37	Chromosome 11, 94180442: 94180442
31	MRE11	NM_005591.3(MRE11): c.1726C> G (p.Arg576Gly)	single nucleotide variant	Uncertain significance	rs774277300	GRCh37	Chromosome 11, 94180442: 94180442
32	MRE11	NM_005591.3(MRE11): c.1726C> G (p.Arg576Gly)	single nucleotide variant	Uncertain significance	rs774277300	GRCh38	Chromosome 11, 94447276: 94447276
33	MRE11	NM_005591.3(MRE11): c.1715G> A (p.Arg572Gln)	single nucleotide variant	Uncertain significance	rs200085146	GRCh37	Chromosome 11, 94180453: 94180453
34	MRE11	NM_005591.3(MRE11): c.1715G> A (p.Arg572Gln)	single nucleotide variant	Uncertain significance	rs200085146	GRCh38	Chromosome 11, 94447287: 94447287
35	MRE11	NM_005591.3(MRE11): c.1699A> G (p.Asn567Asp)	single nucleotide variant	Uncertain significance	rs778585671	GRCh37	Chromosome 11, 94180469: 94180469
36	MRE11	NM_005591.3(MRE11): c.1699A> G (p.Asn567Asp)	single nucleotide variant	Uncertain significance	rs778585671	GRCh38	Chromosome 11, 94447303: 94447303
37	MRE11	NM_005591.3(MRE11): c.1574G> A (p.Arg525Lys)	single nucleotide variant	Uncertain significance	rs773275841	GRCh37	Chromosome 11, 94180594: 94180594
38	MRE11	NM_005591.3(MRE11): c.1574G> A (p.Arg525Lys)	single nucleotide variant	Uncertain significance	rs773275841	GRCh38	Chromosome 11, 94447428: 94447428
39	MRE11	NM_005591.3(MRE11): c.1559G> A (p.Arg520His)	single nucleotide variant	Uncertain significance	rs753148077	GRCh37	Chromosome 11, 94189446: 94189446
40	MRE11	NM_005591.3(MRE11): c.1559G> A (p.Arg520His)	single nucleotide variant	Uncertain significance	rs753148077	GRCh38	Chromosome 11, 94456280: 94456280
41	MRE11	NM_005591.3(MRE11): c.1491C> T (p.Ile497=)	single nucleotide variant	Benign/Likely benign	rs199634245	GRCh38	Chromosome 11, 94459417: 94459417
42	MRE11	NM_005591.3(MRE11): c.1491C> T (p.Ile497=)	single nucleotide variant	Benign/Likely benign	rs199634245	GRCh37	Chromosome 11, 94192583: 94192583
43	MRE11	NM_005591.3(MRE11): c.1476C> T (p.Ala492=)	single nucleotide variant	Likely benign	rs370397034	GRCh37	Chromosome 11, 94192598: 94192598
44	MRE11	NM_005591.3(MRE11): c.1476C> T (p.Ala492=)	single nucleotide variant	Likely benign	rs370397034	GRCh38	Chromosome 11, 94459432: 94459432
45	MRE11	NM_005591.3(MRE11): c.1463G> A (p.Arg488His)	single nucleotide variant	Uncertain significance	rs145377856	GRCh38	Chromosome 11, 94459445: 94459445
46	MRE11	NM_005591.3(MRE11): c.1463G> A (p.Arg488His)	single nucleotide variant	Uncertain significance	rs145377856	GRCh37	Chromosome 11, 94192611: 94192611
47	MRE11	NM_005591.3(MRE11): c.1462C> G (p.Arg488Gly)	single nucleotide variant	Uncertain significance	rs375261439	GRCh37	Chromosome 11, 94192612: 94192612
48	MRE11	NM_005591.3(MRE11): c.1462C> G (p.Arg488Gly)	single nucleotide variant	Uncertain significance	rs375261439	GRCh38	Chromosome 11, 94459446: 94459446
49	MRE11	NM_005591.3(MRE11): c.1443A> G (p.Thr481=)	single nucleotide variant	Likely benign	rs375077574	GRCh37	Chromosome 11, 94192631: 94192631
50	MRE11	NM_005591.3(MRE11): c.1443A> G (p.Thr481=)	single nucleotide variant	Likely benign	rs375077574	GRCh38	Chromosome 11, 94459465: 94459465

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Expression for Ataxia-Telangiectasia-Like Disorder 1

Search GEO for disease gene expression data for Ataxia-Telangiectasia-Like Disorder 1.

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Pathways for Ataxia-Telangiectasia-Like Disorder 1

Pathways related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	DNA Damage Response ¹ Show member pathways miRNA Regulation of DNA Damage Response ¹ p53 signaling pathway ³⁸	11.93	MRE11 NBN
2	DNA Double Strand Break Response ⁶⁷ Show member pathways Nonhomologous End-Joining (NHEJ) ⁶⁷ Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks ⁶⁷ Sensing of DNA Double Strand Breaks ⁶⁷	11.91	MRE11 NBN
3	DNA Damage/Telomere Stress Induced Senescence ⁶⁷ Show member pathways Formation of Senescence-Associated Heterochromatin Foci (SAHF) ⁶⁷ Packaging Of Telomere Ends ⁶⁷ Signal transduction Activin A signaling regulation ²³	11.88	MRE11 NBN
4	Homologous DNA Pairing and Strand Exchange ⁶⁷ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁷ HDR through Single Strand Annealing (SSA) ⁶⁷ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁷	11.82	MRE11 NBN
5	Cellular senescence (KEGG) ³⁸	11.7	MRE11 NBN
6	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁷ Show member pathways Homologous recombination ³⁸ Homologous recombination ¹ Resolution of D-Loop Structures ⁶⁷ Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁷	11.66	MRE11 NBN
7	Immune response IL-2 activation and signaling pathway ²³ Show member pathways Immune response IL-3 activation and signaling pathway ²³	11.48	MRE11 NBN
8	ATM Pathway ⁶⁵ Show member pathways ATM Signaling Pathway ¹	11.37	MRE11 NBN
9	BRCA1 Pathway ⁶⁵ Show member pathways Fanconi's Anaemia Pathway ⁶⁵	11.29	MRE11 NBN
10	Regulation of Telomerase ¹	11.14	MRE11 NBN
11	DNA damage_Role of Brca1 and Brca2 in DNA repair ²³	11.11	MRE11 NBN
12	ATM Signaling Network in Development and Disease ¹	10.92	MRE11 NBN
13	Telomere Extension by Telomerase ⁶⁵ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁷	10.73	MRE11 NBN
14	BARD1 signaling events ¹	10.62	MRE11 NBN
15	DNA damage_NHEJ mechanisms of DSBs repair ²³	10.34	MRE11 NBN
16	DDX1 as a regulatory component of the Drosha microprocessor ¹ Show member pathways RNA interference ¹	9.83	MRE11 NBN

Sources

GO Terms for Ataxia-Telangiectasia-Like Disorder 1

Cellular components related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear chromosome, telomeric region	GO:0000784	9.32	MRE11 NBN
2	PML body	GO:0016605	9.26	MRE11 NBN
3	chromosome, telomeric region	GO:0000781	9.16	MRE11 NBN
4	site of double-strand break	GO:0035861	8.96	MRE11 NBN
5	Mre11 complex	GO:0030870	8.62	MRE11 NBN

Biological processes related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA replication	GO:0006260	9.52	MRE11 NBN
2	meiotic cell cycle	GO:0051321	9.51	MRE11 NBN
3	double-strand break repair via homologous recombination	GO:0000724	9.49	MRE11 NBN
4	double-strand break repair	GO:0006302	9.48	MRE11 NBN
5	double-strand break repair via nonhomologous end joining	GO:0006303	9.46	MRE11 NBN
6	DNA duplex unwinding	GO:0032508	9.43	MRE11 NBN
7	telomere maintenance	GO:0000723	9.4	MRE11 NBN
8	positive regulation of protein autophosphorylation	GO:0031954	9.37	MRE11 NBN
9	positive regulation of kinase activity	GO:0033674	9.32	MRE11 NBN
10	mitotic G2 DNA damage checkpoint	GO:0007095	9.26	MRE11 NBN
11	DNA double-strand break processing	GO:0000729	9.16	MRE11 NBN
12	positive regulation of telomere maintenance	GO:0032206	8.96	MRE11 NBN
13	telomeric 3' overhang formation	GO:0031860	8.62	MRE11 NBN

Molecular functions related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ATP-dependent DNA helicase activity	GO:0004003	8.62	MRE11 NBN

Sources

Sources for Ataxia-Telangiectasia-Like Disorder 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁸ Cochrane Library

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²⁹ GO

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

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⁴⁹ NCBI Bookshelf

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⁶⁷ Reactome

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Ataxia-Telangiectasia-Like Disorder 1 (ATLD1)

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder 1

MalaCards integrated aliases for Ataxia-Telangiectasia-Like Disorder 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Ataxia-Telangiectasia-Like Disorder 1

Related Diseases for Ataxia-Telangiectasia-Like Disorder 1

Diseases in the Ataxia-Telangiectasia family:

Diseases related to Ataxia-Telangiectasia-Like Disorder 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Ataxia-Telangiectasia-Like Disorder 1:

Symptoms & Phenotypes for Ataxia-Telangiectasia-Like Disorder 1

Human phenotypes related to Ataxia-Telangiectasia-Like Disorder 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Ataxia-Telangiectasia-Like Disorder 1:

Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder 1

Interventional clinical trials:

Genetic Tests for Ataxia-Telangiectasia-Like Disorder 1

Genetic tests related to Ataxia-Telangiectasia-Like Disorder 1:

Anatomical Context for Ataxia-Telangiectasia-Like Disorder 1

MalaCards organs/tissues related to Ataxia-Telangiectasia-Like Disorder 1:

Publications for Ataxia-Telangiectasia-Like Disorder 1

Articles related to Ataxia-Telangiectasia-Like Disorder 1:

Genes for Ataxia-Telangiectasia-Like Disorder 1

Genes related to Ataxia-Telangiectasia-Like Disorder 1 (1 elite genes):

Variations for Ataxia-Telangiectasia-Like Disorder 1

UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Telangiectasia-Like Disorder 1:

ClinVar genetic disease variations for Ataxia-Telangiectasia-Like Disorder 1:

Expression for Ataxia-Telangiectasia-Like Disorder 1

Pathways for Ataxia-Telangiectasia-Like Disorder 1

Pathways related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

GO Terms for Ataxia-Telangiectasia-Like Disorder 1

Cellular components related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

Biological processes related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

Molecular functions related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

Sources for Ataxia-Telangiectasia-Like Disorder 1