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

MCID: ATX040 MIFTS: 44	Ataxia-Telangiectasia-Like Disorder 1 Categories: Genetic diseases, Neuronal diseases, Skin diseases, Rare diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Blood diseases, Immune diseases, Ear diseases
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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 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Ataxia-Telangiectasia-Like Disorder ⁵⁹ ⁷⁵ ²⁹ ¹³ ⁵⁵ ⁴⁰

Atld ⁵⁷ ⁵⁹ ⁷⁵

Atld1 ⁵⁷ ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in early childhood

HPO:

³²

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 Eye diseases Reproductive diseases Endocrine diseases Blood diseases Immune diseases Ear diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Rare skin diseases

External Ids:

OMIM ⁵⁷ 604391

Orphanet ⁵⁹ ORPHA251347

UMLS via Orphanet ⁷⁴ C1858391 C1859598

MedGen ⁴² C4012790 C1858391

MeSH ⁴⁴ D002524 D049914

SNOMED-CT via HPO ⁶⁹ 258211005 103606006 404686001 more

UMLS ⁷³ C4012790

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Summaries for Ataxia-Telangiectasia-Like Disorder 1

OMIM : ⁵⁷ 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-like disorder 2 and alpha-thalassemia/mental retardation syndrome, x-linked, and has symptoms including dysdiadochokinesis and gait ataxia. 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 : ⁷⁵ 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:

#	Related Disease	Score	Top Affiliating Genes
1	ataxia-telangiectasia-like disorder 2	10.9
2	alpha-thalassemia/mental retardation syndrome, x-linked	9.9	MRE11 NBN
3	nijmegen breakage syndrome	9.8	MRE11 NBN
4	hereditary breast ovarian cancer syndrome	9.8	MRE11 NBN
5	werner syndrome	9.7	MRE11 NBN
6	ataxia-telangiectasia	9.6	MRE11 NBN
7	fanconi anemia, complementation group a	9.3	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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

⁵⁹ ³² (show all 40)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysarthria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001260
2	chorea ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002072
3	delayed speech and language development ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000750
4	short stature ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0004322
5	myoclonus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001336
6	gait ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002066
7	dysmetria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001310
8	pes cavus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001761
9	intention tremor ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002080
10	dystonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001332
11	mask-like facies ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000298
12	hypergonadotropic hypogonadism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000815
13	joint laxity ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001388
14	dysdiadochokinesis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002075
15	cerebellar atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001272
16	sensorimotor neuropathy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0007141
17	oculomotor apraxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000657
18	frequent falls ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002359
19	cerebellar vermis hypoplasia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001320
20	drooling ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002307
21	generalized hypotonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001290
22	absent achilles reflex ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003438
23	slow saccadic eye movements ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000514
24	hyperactive deep tendon reflexes ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0006801
25	orofacial dyskinesia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002310
26	abnormality of ocular smooth pursuit ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000617
27	gaze-evoked nystagmus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000640
28	vertical nystagmus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0010544
29	small posterior fossa ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0040010
30	dilated fourth ventricle ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002198
31	enlarged interhemispheric fissure ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100953
32	dysmetric saccades ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000641
33	ataxia ⁵⁹		Very frequent (99-80%)
34	reduced tendon reflexes ⁵⁹		Frequent (79-30%)
35	hyporeflexia ³²			HP:0001265
36	lower limb spasticity ³²			HP:0002061
37	distal amyotrophy ³²			HP:0003693
38	hypometric saccades ³²			HP:0000571
39	telangiectasia ³²			HP:0001009
40	impaired smooth pursuit ³²			HP:0007772

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

dysdiadochokinesis, gait ataxia

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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 ²⁹	MRE11
2	Ataxia-Telangiectasia-Like Disorder ²⁹

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Anatomical Context for Ataxia-Telangiectasia-Like Disorder 1

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

⁴¹

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 13)

#	Title	Authors	Year
1	Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. ( 29170652 )	Federighi P....Rufa A.	2017
2	Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? ( 24733832 )	Yoshida T....Heike T.	2014
3	Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. ( 23436002 )	Palmeri S....Federico A.	2013
4	Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. ( 20087742 )	Oba D....Mizutani S.	2010
5	Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. ( 19732584 )	Uchisaka N....Morio T.	2009
6	Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. ( 18652530 )	Alsbeih G....Al-Harbi N.	2008
7	Ophthalmic features of ataxia telangiectasia-like disorder. ( 18083591 )	Khan A.O....Salih M.A.	2008
8	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
9	Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. ( 15279810 )	Taylor A.M....Byrd P.J.	2004
10	MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. ( 15269180 )	Delia D....Chessa L.	2004
11	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
12	Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder. ( 11481721 )	Klein C....Taylor A.M.	2001
13	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	1717.43	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Variants (show sections)	22863007 10612394 8445618 (more) 20050888 15269180 15574463 11371508 8684395 24332946 15269180 15296753 20087742 15234984 11850399 12966088
2	NBN	Nibrin	Protein Coding	20.97	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	12966088 15234984 18575580
3	MIR548L	MicroRNA 548l	RNA Gene	8.85	GeneCards inferred via : Variants (show sections)
4	ANKRD49	Ankyrin Repeat Domain 49	Protein Coding	8.61	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:

⁷⁵

#	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 331)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MRE11	NM_005591.3(MRE11): c.1897C> T (p.Arg633Ter)	single nucleotide variant	Pathogenic	rs137852759	GRCh37	Chromosome 11, 94170372: 94170372
2	MRE11	NM_005591.3(MRE11): c.1897C> T (p.Arg633Ter)	single nucleotide variant	Pathogenic	rs137852759	GRCh38	Chromosome 11, 94437206: 94437206
3	MRE11	NM_005591.3(MRE11): c.1714C> T (p.Arg572Ter)	single nucleotide variant	Pathogenic	rs137852761	GRCh37	Chromosome 11, 94180454: 94180454
4	MRE11	NM_005591.3(MRE11): c.1714C> T (p.Arg572Ter)	single nucleotide variant	Pathogenic	rs137852761	GRCh38	Chromosome 11, 94447288: 94447288
5	MRE11	NM_005591.3(MRE11): c.1442C> A (p.Thr481Lys)	single nucleotide variant	Pathogenic	rs137852762	GRCh37	Chromosome 11, 94192632: 94192632
6	MRE11	NM_005591.3(MRE11): c.1442C> A (p.Thr481Lys)	single nucleotide variant	Pathogenic	rs137852762	GRCh38	Chromosome 11, 94459466: 94459466
7	MRE11	NM_005591.3(MRE11): c.630G> C (p.Trp210Cys)	single nucleotide variant	Pathogenic	rs137852763	GRCh37	Chromosome 11, 94209484: 94209484
8	MRE11	NM_005591.3(MRE11): c.630G> C (p.Trp210Cys)	single nucleotide variant	Pathogenic	rs137852763	GRCh38	Chromosome 11, 94476318: 94476318
9	MRE11	NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs)	duplication	Pathogenic/Likely pathogenic	rs587781442	GRCh37	Chromosome 11, 94169013: 94169032
10	MRE11	NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs)	duplication	Pathogenic/Likely pathogenic	rs587781442	GRCh38	Chromosome 11, 94435847: 94435866
11	MRE11	NM_005591.3(MRE11): c.140C> T (p.Ala47Val)	single nucleotide variant	Uncertain significance	rs730880378	GRCh37	Chromosome 11, 94224012: 94224012
12	MRE11	NM_005591.3(MRE11): c.140C> T (p.Ala47Val)	single nucleotide variant	Uncertain significance	rs730880378	GRCh38	Chromosome 11, 94490846: 94490846
13	MRE11	NM_005591.3(MRE11): c.969A> G (p.Pro323=)	single nucleotide variant	Benign/Likely benign	rs13447633	GRCh38	Chromosome 11, 94470519: 94470519
14	MRE11	NM_005591.3(MRE11): c.969A> G (p.Pro323=)	single nucleotide variant	Benign/Likely benign	rs13447633	GRCh37	Chromosome 11, 94203685: 94203685
15	MRE11	NM_005591.3(MRE11): c.845+11T> C	single nucleotide variant	Benign/Likely benign	rs140145979	GRCh38	Chromosome 11, 94471563: 94471563
16	MRE11	NM_005591.3(MRE11): c.845+11T> C	single nucleotide variant	Benign/Likely benign	rs140145979	GRCh37	Chromosome 11, 94204729: 94204729
17	MRE11	NM_005591.3(MRE11): c.822T> C (p.Leu274=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137868143	GRCh38	Chromosome 11, 94471597: 94471597
18	MRE11	NM_005591.3(MRE11): c.822T> C (p.Leu274=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137868143	GRCh37	Chromosome 11, 94204763: 94204763
19	MRE11	NM_005591.3(MRE11): c.771A> G (p.Glu257=)	single nucleotide variant	Benign/Likely benign	rs13447632	GRCh38	Chromosome 11, 94471648: 94471648
20	MRE11	NM_005591.3(MRE11): c.771A> G (p.Glu257=)	single nucleotide variant	Benign/Likely benign	rs13447632	GRCh37	Chromosome 11, 94204814: 94204814
21	MRE11	NM_005591.3(MRE11): c.426C> T (p.Asp142=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs3218740	GRCh38	Chromosome 11, 94478853: 94478853
22	MRE11	NM_005591.3(MRE11): c.426C> T (p.Asp142=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs3218740	GRCh37	Chromosome 11, 94212019: 94212019
23	MRE11	NM_005591.3(MRE11): c.120C> T (p.Leu40=)	single nucleotide variant	Benign/Likely benign	rs1805364	GRCh38	Chromosome 11, 94490866: 94490866
24	MRE11	NM_005591.3(MRE11): c.120C> T (p.Leu40=)	single nucleotide variant	Benign/Likely benign	rs1805364	GRCh37	Chromosome 11, 94224032: 94224032
25	MRE11	NM_005591.3(MRE11): c.2083_2085dupGAT (p.Asp695_Pro696insAsp)	duplication	Uncertain significance	rs786203003	GRCh37	Chromosome 11, 94153333: 94153335
26	MRE11	NM_005591.3(MRE11): c.2083_2085dupGAT (p.Asp695_Pro696insAsp)	duplication	Uncertain significance	rs786203003	GRCh38	Chromosome 11, 94420167: 94420169
27	MRE11	NM_005591.3(MRE11): c.2076T> A (p.Asp692Glu)	single nucleotide variant	Uncertain significance	rs778093337	GRCh37	Chromosome 11, 94153342: 94153342
28	MRE11	NM_005591.3(MRE11): c.2076T> A (p.Asp692Glu)	single nucleotide variant	Uncertain significance	rs778093337	GRCh38	Chromosome 11, 94420176: 94420176
29	MRE11	NM_005591.3(MRE11): c.2070+2T> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs786202801	GRCh37	Chromosome 11, 94163075: 94163075
30	MRE11	NM_005591.3(MRE11): c.2070+2T> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs786202801	GRCh38	Chromosome 11, 94429909: 94429909
31	MRE11	NM_005591.3(MRE11): c.2049G> A (p.Gly683=)	single nucleotide variant	Likely benign	rs758931835	GRCh37	Chromosome 11, 94163098: 94163098
32	MRE11	NM_005591.3(MRE11): c.2049G> A (p.Gly683=)	single nucleotide variant	Likely benign	rs758931835	GRCh38	Chromosome 11, 94429932: 94429932
33	MRE11	NM_005591.3(MRE11): c.1758G> A (p.Ser586=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs766372720	GRCh37	Chromosome 11, 94180410: 94180410
34	MRE11	NM_005591.3(MRE11): c.1758G> A (p.Ser586=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs766372720	GRCh38	Chromosome 11, 94447244: 94447244
35	MRE11	NM_005591.3(MRE11): c.1726C> T (p.Arg576Ter)	single nucleotide variant	Pathogenic	rs774277300	GRCh37	Chromosome 11, 94180442: 94180442
36	MRE11	NM_005591.3(MRE11): c.1726C> T (p.Arg576Ter)	single nucleotide variant	Pathogenic	rs774277300	GRCh38	Chromosome 11, 94447276: 94447276
37	MRE11	NM_005591.3(MRE11): c.1726C> G (p.Arg576Gly)	single nucleotide variant	Uncertain significance	rs774277300	GRCh37	Chromosome 11, 94180442: 94180442
38	MRE11	NM_005591.3(MRE11): c.1726C> G (p.Arg576Gly)	single nucleotide variant	Uncertain significance	rs774277300	GRCh38	Chromosome 11, 94447276: 94447276
39	MRE11	NM_005591.3(MRE11): c.1574G> A (p.Arg525Lys)	single nucleotide variant	Uncertain significance	rs773275841	GRCh37	Chromosome 11, 94180594: 94180594
40	MRE11	NM_005591.3(MRE11): c.1574G> A (p.Arg525Lys)	single nucleotide variant	Uncertain significance	rs773275841	GRCh38	Chromosome 11, 94447428: 94447428
41	MRE11	NM_005591.3(MRE11): c.1476C> T (p.Ala492=)	single nucleotide variant	Likely benign	rs370397034	GRCh37	Chromosome 11, 94192598: 94192598
42	MRE11	NM_005591.3(MRE11): c.1476C> T (p.Ala492=)	single nucleotide variant	Likely benign	rs370397034	GRCh38	Chromosome 11, 94459432: 94459432
43	MRE11	NM_005591.3(MRE11): c.1463G> A (p.Arg488His)	single nucleotide variant	Uncertain significance	rs145377856	GRCh37	Chromosome 11, 94192611: 94192611
44	MRE11	NM_005591.3(MRE11): c.1463G> A (p.Arg488His)	single nucleotide variant	Uncertain significance	rs145377856	GRCh38	Chromosome 11, 94459445: 94459445
45	MRE11	NM_005591.3(MRE11): c.1462C> G (p.Arg488Gly)	single nucleotide variant	Uncertain significance	rs375261439	GRCh37	Chromosome 11, 94192612: 94192612
46	MRE11	NM_005591.3(MRE11): c.1462C> G (p.Arg488Gly)	single nucleotide variant	Uncertain significance	rs375261439	GRCh38	Chromosome 11, 94459446: 94459446
47	MRE11	NM_005591.3(MRE11): c.1443A> G (p.Thr481=)	single nucleotide variant	Likely benign	rs375077574	GRCh37	Chromosome 11, 94192631: 94192631
48	MRE11	NM_005591.3(MRE11): c.1443A> G (p.Thr481=)	single nucleotide variant	Likely benign	rs375077574	GRCh38	Chromosome 11, 94459465: 94459465
49	MRE11	NM_005591.3(MRE11): c.1404T> C (p.Asp468=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs368144567	GRCh37	Chromosome 11, 94192670: 94192670
50	MRE11	NM_005591.3(MRE11): c.1404T> C (p.Asp468=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs368144567	GRCh38	Chromosome 11, 94459504: 94459504

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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 14)

#	Super pathways	Score	Top Affiliating Genes
1	DNA Damage Response ¹ Show member pathways miRNA Regulation of DNA Damage Response ¹ p53 signaling pathway ³⁷	11.91	MRE11 NBN
2	DNA Double Strand Break Response ⁶⁶ Show member pathways Nonhomologous End-Joining (NHEJ) ⁶⁶ Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks ⁶⁶ Sensing of DNA Double Strand Breaks ⁶⁶	11.88	MRE11 NBN
3	DNA Damage/Telomere Stress Induced Senescence ⁶⁶ Show member pathways Formation of Senescence-Associated Heterochromatin Foci (SAHF) ⁶⁶ Packaging Of Telomere Ends ⁶⁶ Signal transduction Activin A signaling regulation ²²	11.86	MRE11 NBN
4	Homologous DNA Pairing and Strand Exchange ⁶⁶ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁶ HDR through Single Strand Annealing (SSA) ⁶⁶ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁶	11.79	MRE11 NBN
5	Cellular senescence (KEGG) ³⁷	11.68	MRE11 NBN
6	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁶ Show member pathways Homologous recombination ³⁷ Homologous recombination ¹ Resolution of D-Loop Structures ⁶⁶ Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁶	11.64	MRE11 NBN
7	Immune response IL-2 activation and signaling pathway ²² Show member pathways Immune response IL-3 activation and signaling pathway ²²	11.46	MRE11 NBN
8	ATM Pathway ⁶⁴ Show member pathways ATM Signaling Pathway ¹	11.34	MRE11 NBN
9	BRCA1 Pathway ⁶⁴ Show member pathways Fanconi's Anaemia Pathway ⁶⁴	11.29	MRE11 NBN
10	Regulation of Telomerase ¹	11.14	MRE11 NBN
11	ATM Signaling Network in Development and Disease ¹	10.92	MRE11 NBN
12	BARD1 signaling events ¹	10.62	MRE11 NBN
13	DNA damage_NHEJ mechanisms of DSBs repair ²²	10.34	MRE11 NBN
14	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 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA replication	GO:0006260	9.56	MRE11 NBN
2	regulation of signal transduction by p53 class mediator	GO:1901796	9.55	MRE11 NBN
3	meiotic cell cycle	GO:0051321	9.54	MRE11 NBN
4	double-strand break repair via homologous recombination	GO:0000724	9.52	MRE11 NBN
5	positive regulation of kinase activity	GO:0033674	9.51	MRE11 NBN
6	double-strand break repair via nonhomologous end joining	GO:0006303	9.49	MRE11 NBN
7	double-strand break repair	GO:0006302	9.48	MRE11 NBN
8	DNA duplex unwinding	GO:0032508	9.46	MRE11 NBN
9	telomere maintenance	GO:0000723	9.43	MRE11 NBN
10	DNA synthesis involved in DNA repair	GO:0000731	9.4	MRE11 NBN
11	strand displacement	GO:0000732	9.37	MRE11 NBN
12	positive regulation of protein autophosphorylation	GO:0031954	9.32	MRE11 NBN
13	mitotic G2 DNA damage checkpoint	GO:0007095	9.26	MRE11 NBN
14	DNA double-strand break processing	GO:0000729	9.16	MRE11 NBN
15	positive regulation of telomere maintenance	GO:0032206	8.96	MRE11 NBN
16	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

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