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

ATLD1 MCID: ATX040 MIFTS: 49	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 ⁵⁷ ⁷³ ²⁹ ⁶ ⁷¹

Ataxia-Telangiectasia-Like Disorder ⁵⁸ ⁷³ ²⁹ ¹³ ⁵⁴ ⁶ ³⁹

Atld ⁵⁷ ⁵⁸ ⁷³

Atld1 ⁵⁷ ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in early childhood

HPO:

³¹

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

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare skin diseases

External Ids:

OMIM® ⁵⁷ 604391

OMIM Phenotypic Series ⁵⁷ PS604391

MeSH ⁴⁴ D002524 D049914

UMLS via Orphanet ⁷² C1858391 C1859598

Orphanet ⁵⁸ ORPHA251347

MedGen ⁴¹ C1858391 C4012790

UMLS ⁷¹ 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) (Updated 05-Mar-2021)

MalaCards based summary : Ataxia-Telangiectasia-Like Disorder 1, also known as ataxia-telangiectasia-like disorder, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and ataxia-telangiectasia, 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 and Meiosis. Affiliated tissues include eye, brain and lung, and related phenotypes are dysarthria and chorea

UniProtKB/Swiss-Prot : ⁷³ 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 30)

#	Related Disease	Score	Top Affiliating Genes
1	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	31.2	MRE11 MIR548L
2	ataxia-telangiectasia	29.9	NBN MRE11
3	nijmegen breakage syndrome	29.7	NBN MRE11
4	ataxia-telangiectasia-like disorder 2	10.9
5	apraxia	10.3
6	autosomal recessive disease	10.3
7	dystonia	10.2
8	pathologic nystagmus	10.2
9	cerebellar degeneration	10.2
10	oculomotor apraxia	10.2
11	ataxia and polyneuropathy, adult-onset	10.1
12	telangiectasis	10.1
13	strabismus	10.0
14	ocular motor apraxia	10.0
15	dystonia with cerebellar atrophy	10.0
16	lung cancer susceptibility 3	10.0
17	alacrima, achalasia, and mental retardation syndrome	10.0
18	mild cognitive impairment	10.0
19	amenorrhea	10.0
20	hypogonadism	10.0
21	adenocarcinoma	10.0
22	mechanical strabismus	10.0
23	rare ataxia	10.0
24	microcephaly	9.9
25	alpha-thalassemia/mental retardation syndrome, x-linked	9.8	NBN MRE11
26	alpha-thalassemia	9.8	NBN MRE11
27	gastric cancer, hereditary diffuse	9.8	NBN MRE11
28	werner syndrome	9.8	NBN MRE11
29	hereditary breast ovarian cancer syndrome	9.7	NBN MRE11
30	lynch syndrome	9.6	NBN MRE11

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:

⁵⁸ ³¹ (show all 41)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysarthria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001260
2	chorea ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002072
3	mask-like facies ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000298
4	dysmetria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001310
5	dystonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001332
6	gait ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002066
7	cerebellar atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001272
8	cerebellar vermis hypoplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001320
9	oculomotor apraxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000657
10	generalized hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001290
11	intention tremor ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002080
12	orofacial dyskinesia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002310
13	absent achilles reflex ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003438
14	slow saccadic eye movements ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000514
15	dilated fourth ventricle ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002198
16	enlarged interhemispheric fissure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100953
17	delayed speech and language development ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000750
18	myoclonus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001336
19	joint laxity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001388
20	pes cavus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001761
21	dysdiadochokinesis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002075
22	hypergonadotropic hypogonadism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000815
23	hyperactive deep tendon reflexes ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006801
24	frequent falls ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002359
25	drooling ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002307
26	sensorimotor neuropathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007141
27	vertical nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010544
28	small posterior fossa ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0040010
29	gaze-evoked nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000640
30	abnormality of ocular smooth pursuit ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000617
31	dysmetric saccades ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000641
32	short stature ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0004322
33	ataxia ⁵⁸		Very frequent (99-80%)
34	reduced tendon reflexes ⁵⁸		Frequent (79-30%)
35	hyporeflexia ³¹			HP:0001265
36	distal amyotrophy ³¹			HP:0003693
37	lower limb spasticity ³¹			HP:0002061
38	telangiectasia ³¹			HP:0001009
39	increased sensitivity to ionizing radiation ³¹			HP:0011133
40	impaired smooth pursuit ³¹			HP:0007772
41	hypometric saccades ³¹			HP:0000571

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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

Head And Neck Eyes:
oculomotor apraxia
impaired smooth pursuit
hypometric saccades
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 (Updated 05-Mar-2021)

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

dysdiadochokinesis, gait ataxia

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Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder 1

Search Clinical Trials , 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 ²⁹
2	Ataxia-Telangiectasia-Like Disorder 1 ²⁹	MRE11

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Anatomical Context for Ataxia-Telangiectasia-Like Disorder 1

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

⁴⁰

Eye, Brain, Lung, B Cells

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Publications for Ataxia-Telangiectasia-Like Disorder 1

Articles related to Ataxia-Telangiectasia-Like Disorder 1:

(show top 50) (show all 72)

#	Title	Authors	PMID	Year
1	MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. ⁵⁴ ⁵⁷ ⁶ ⁶¹	Delia D...Chessa L	15269180	2004
2	Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. ⁶ ⁵⁷ ⁶¹	Fernet M...Koenig M	15574463	2005
3	hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. ⁶ ⁵⁷ ⁶¹	Pitts SA...Byrd PJ	11371508	2001
4	The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. ⁶ ⁵⁷ ⁶¹	Stewart GS...Taylor AM	10612394	1999
5	Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia. ⁶ ⁵⁷	Miyamoto R...Kawakami H	24332946	2014
6	Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. ⁶ ⁵⁷	Chaki M...Hildebrandt F	22863007	2012
7	Ataxia without telangiectasia masquerading as benign hereditary chorea. ⁵⁷ ⁶	Klein C...Marsden CD	8684395	1996
8	A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. ⁵⁷ ⁶	Hernandez D...Taylor AM	8445618	1993
9	Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. ⁵⁴ ⁶¹	Oba D...Mizutani S	20087742	2010
10	A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation. ⁵⁴ ⁶¹	Du L...Pan-Hammarstrom Q	18575580	2008
11	Independent roles for nibrin and Mre11-Rad50 in the activation and function of Atm. ⁶¹ ⁵⁴	Cerosaletti K...Concannon P	15234984	2004
12	The Drosophila Mre11/Rad50 complex is required to prevent both telomeric fusion and chromosome breakage. ⁶¹ ⁵⁴	Ciapponi L...Gatti M	15296753	2004
13	Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes. ⁶¹ ⁵⁴	Lee JH...Paull TT	12966088	2003
14	Human MRE11 is inactivated in mismatch repair-deficient cancers. ⁵⁴ ⁶¹	Giannini G...Gulino A	11850399	2002
15	Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia-Like Disorders. ⁶¹	Raslan IR...Pedroso JL	33426167	2021
16	A Rare Case of Ataxia-Telangiectasia-Like Disorder With MRE11 Mutation. ⁶¹	Mahale RR...Retnaswami CS	33531947	2020
17	A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex. ⁶¹	Rahman S...Latham MP	32668560	2020
18	Ataxia telangiectasia like disorder: Another dopa-responsive disorder look-alike? ⁶¹	Ser MH...Basak AN	32289520	2020
19	FXR1 is a novel MRE11-binding partner and participates in oxidative stress responses. ⁶¹	Qi F...Kobayashi J	32211858	2020
20	RAD50 regulates mitotic progression independent of DNA repair functions. ⁶¹	Volkening L...Dork T	31908056	2020
21	Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect. ⁶¹	Fievet A...Stern MH	31033087	2019
22	Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant. ⁶¹	Sedghi M...Tajsharghi H	30584599	2018
23	[Ataxia telangiectasia-like disorder -a child with a novel variant in MRE11A gene]. ⁶¹	Aquino J...Vasconcelos M	28699156	2017
24	MRE11 stability is regulated by CK2-dependent interaction with R2TP complex. ⁶¹	von Morgen P...Horejsi Z	28436950	2017
25	Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. ⁶¹	Federighi P...Rufa A	29170652	2017
26	Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? ⁶¹	Yoshida T...Heike T	24733832	2014
27	Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms. ⁶¹	Regal JA...Ferguson DO	23912341	2013
28	Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. ⁶¹	Palmeri S...Federico A	23436002	2013
29	DNA damage sensor MRE11 recognizes cytosolic double-stranded DNA and induces type I interferon by regulating STING trafficking. ⁶¹	Kondo T...Kawai T	23388631	2013
30	Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. ⁶¹	Wolf NI...Koenig M	23622410	2013
31	Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair. ⁶¹	Limbo O...Russell P	23080121	2012
32	Mre11 modulates the fidelity of fusion between short telomeres in human cells. ⁶¹	Tankimanova M...Baird DM	22139912	2012
33	Mre11 regulates CtIP-dependent double-strand break repair by interaction with CDK2. ⁶¹	Buis J...Ferguson DO	22231403	2012
34	Oxidative stress in developmental brain disorders. ⁶¹	Hayashi M...Tanuma N	22411250	2012
35	Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. ⁶¹	Matsumoto Y...Matsuura S	21227757	2011
36	Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. ⁶¹	Uchisaka N...Morio T	19732584	2009
37	Ataxias with autosomal, X-chromosomal or maternal inheritance. ⁶¹	Finsterer J	19650351	2009
38	Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. ⁶¹	Waltes R...Dork T	19409520	2009
39	The role of MRN in the S-phase DNA damage checkpoint is independent of its Ctp1-dependent roles in double-strand break repair and checkpoint signaling. ⁶¹	Porter-Goff ME...Rhind N	19211838	2009
40	Ataxia with oculomotor apraxia. ⁶¹	Liu W...Narayanan V	19073331	2008
41	DNA repair by the MRN complex: break it to make it. ⁶¹	Kanaar R...Wyman C	18854148	2008
42	Mre11 dimers coordinate DNA end bridging and nuclease processing in double-strand-break repair. ⁶¹	Williams RS...Tainer JA	18854158	2008
43	Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. ⁶¹	Alsbeih G...Al-Harbi N	18652530	2008
44	Ophthalmic features of ataxia telangiectasia-like disorder. ⁶¹	Khan AO...Salih MA	18083591	2008
45	Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients. ⁶¹	Chistiakov DA...Chistiakov PA	18568480	2008
46	The Mre11 complex mediates the S-phase checkpoint through an interaction with replication protein A. ⁶¹	Olson E...Wu X	17591703	2007
47	Mre11-Rad50-Nbs1 is a keystone complex connecting DNA repair machinery, double-strand break signaling, and the chromatin template. ⁶¹	Williams RS...Tainer JA	17713585	2007
48	Developing master keys to brain pathology, cancer and aging from the structural biology of proteins controlling reactive oxygen species and DNA repair. ⁶¹	Perry JJ...Tainer JA	17174478	2007
49	A subgroup of spinocerebellar ataxias defective in DNA damage responses. ⁶¹	Gueven N...Lavin MF	17224243	2007
50	Mechanisms of disease: DNA repair defects and neurological disease. ⁶¹	Subba Rao K	17342192	2007

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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	PubMed IDs
1	MRE11	MRE11 Homolog, Double Strand Break Repair Nuclease	Protein Coding	1707.3	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Variants (show sections)	8445618 10612394 22863007 (more) 8684395 11371508 15269180 15296753 20087742 15234984 11850399 12966088
2	MIR548L	MicroRNA 548l	RNA Gene	25	Likely pathogenic ⁶
3	NBN	Nibrin	Protein Coding	10.97	Novoseek inferred ⁵⁴	12966088 15234984 18575580

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Variations for Ataxia-Telangiectasia-Like Disorder 1

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

⁶ (show top 50) (show all 511)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MRE11	NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys)	SNV	Pathogenic	8785	rs137852762	11:94192632-94192632	11:94459466-94459466
2	MRE11	NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)	SNV	Pathogenic	8786	rs137852763	11:94209484-94209484	11:94476318-94476318
3	MRE11	NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)	SNV	Pathogenic	8782	rs137852759	11:94170372-94170372	11:94437206-94437206
4	MRE11	NM_005590.4(MRE11):c.1726C>T (p.Arg576Ter)	SNV	Pathogenic	184445	rs774277300	11:94180442-94180442	11:94447276-94447276
5	MRE11	NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)	Duplication	Pathogenic	141025	rs587781442	11:94169012-94169013	11:94435846-94435847
6	MRE11	NM_005590.4(MRE11):c.739dup (p.His247fs)	Duplication	Pathogenic	187699	rs786203931	11:94204845-94204846	11:94471679-94471680
7	MRE11	NM_005591.3(MRE11):c.1447C>T (p.Arg483Ter)	SNV	Pathogenic	231449	rs780001540	11:94192627-94192627	11:94459461-94459461
8	MRE11	NM_005591.3(MRE11):c.1090C>T (p.Arg364Ter)	SNV	Pathogenic	140953	rs371077728	11:94200987-94200987	11:94467821-94467821
9	MRE11	NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)	SNV	Pathogenic	8784	rs137852761	11:94180454-94180454	11:94447288-94447288
10	MRE11	NM_005591.3(MRE11):c.1090C>T (p.Arg364Ter)	SNV	Pathogenic	140953	rs371077728	11:94200987-94200987	11:94467821-94467821
11	MRE11	NM_005590.4(MRE11):c.1516G>T (p.Glu506Ter)	SNV	Pathogenic	140941	rs587781384	11:94189489-94189489	11:94456323-94456323
12	MRE11	NM_005591.3(MRE11):c.664A>T (p.Lys222Ter)	SNV	Pathogenic	659921	rs371455048	11:94204921-94204921	11:94471755-94471755
13	MRE11	NM_005590.4(MRE11):c.1047_1048del (p.Glu350fs)	Deletion	Pathogenic	660377	rs1591688367	11:94201029-94201030	11:94467863-94467864
14	MRE11	NM_005591.3(MRE11):c.659+1G>A	SNV	Pathogenic	230014	rs759130031	11:94209454-94209454	11:94476288-94476288
15	MRE11	NM_005590.4(MRE11):c.1516G>T (p.Glu506Ter)	SNV	Pathogenic	140941	rs587781384	11:94189489-94189489	11:94456323-94456323
16	MRE11	NC_000011.10:g.(?_94470461)_(94492811_?)del	Deletion	Pathogenic	833144		11:94203627-94225977
17	MRE11	NM_005590.4(MRE11):c.1726C>T (p.Arg576Ter)	SNV	Pathogenic	184445	rs774277300	11:94180442-94180442	11:94447276-94447276
18	MRE11	NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)	SNV	Pathogenic	8782	rs137852759	11:94170372-94170372	11:94437206-94437206
19	MRE11	NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)	SNV	Pathogenic	825924	rs1157413766	11:94209543-94209543	11:94476377-94476377
20	MRE11	NM_005591.3(MRE11):c.504_511del (p.Leu169fs)	Deletion	Pathogenic	185530	rs786202253	11:94211934-94211941	11:94478768-94478775
21	MRE11	NM_005591.3(MRE11):c.1414G>T (p.Glu472Ter)	SNV	Pathogenic	481748	rs1376550081	11:94192660-94192660	11:94459494-94459494
22	MRE11	NM_005590.4(MRE11):c.1222dup (p.Thr408fs)	Duplication	Pathogenic	184556	rs774440500	11:94197281-94197282	11:94464115-94464116
23	MRE11	NM_005591.3(MRE11):c.1143del (p.Phe381fs)	Deletion	Pathogenic	216094	rs863224508	11:94197361-94197361	11:94464195-94464195
24	MRE11	NM_005591.4(MRE11):c.818_819CT[1] (p.Leu274fs)	Microsatellite	Pathogenic	807630	rs1565228898	11:94204764-94204765	11:94471598-94471599
25	MRE11	NM_005591.4(MRE11):c.552del (p.Pro185fs)	Deletion	Pathogenic	941113		11:94209562-94209562	11:94476396-94476396
26	MRE11	NM_005591.4(MRE11):c.1603G>T (p.Glu535Ter)	SNV	Pathogenic	946577		11:94180565-94180565	11:94447399-94447399
27	MRE11	NM_005591.4(MRE11):c.1112dup (p.Gly372fs)	Duplication	Pathogenic	807446	rs1591681273	11:94197391-94197392	11:94464225-94464226
28	MRE11	NM_005591.4(MRE11):c.1326+1del	Deletion	Pathogenic	967050		11:94194101-94194101	11:94460935-94460935
29	MRE11	GRCh37/hg19 11q21(chr11:94153291-94170401)	copy number loss	Pathogenic	976666		11:94153291-94170401
30	MRE11	NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)	SNV	Pathogenic/Likely pathogenic	8783	rs137852760	11:94212892-94212892	11:94479726-94479726
31	MRE11	NM_005591.3(MRE11):c.402+2_402+3delinsGGG	Indel	Likely pathogenic	481774	rs1555015413	11:94212837-94212838	11:94479671-94479672
32	MRE11	NM_005591.4(MRE11):c.1225+2T>A	SNV	Likely pathogenic	937370		11:94197277-94197277	11:94464111-94464111
33	MRE11	NM_005591.3(MRE11):c.21-6_26del	Deletion	Likely pathogenic	127979	rs587780138	11:94224126-94224137	11:94490960-94490971
34	MRE11	NM_005591.3(MRE11):c.77T>C (p.Met26Thr)	SNV	Likely pathogenic	182553	rs372068015	11:94224075-94224075	11:94490909-94490909
35	MRE11	NM_005591.4(MRE11):c.1112dup (p.Gly372fs)	Duplication	Likely pathogenic	807446	rs1591681273	11:94197391-94197392	11:94464225-94464226
36	MRE11	NM_005591.4(MRE11):c.818_819CT[1] (p.Leu274fs)	Microsatellite	Likely pathogenic	807630	rs1565228898	11:94204764-94204765	11:94471598-94471599
37	MIR548L	NC_000011.9:g.(?_94194092)_(94212937_?)dup	Duplication	Likely pathogenic	658977		11:94194092-94212937	11:94460926-94479771
38	MRE11	NM_005591.3(MRE11):c.1927-2A>G	SNV	Likely pathogenic	141533	rs587781822	11:94169067-94169067	11:94435901-94435901
39	MRE11	NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)	SNV	Likely pathogenic	8783	rs137852760	11:94212892-94212892	11:94479726-94479726
40	MRE11	NM_005590.4(MRE11):c.1500+1153_1563+1027del	Deletion	Likely pathogenic	638600		11:94188415-94191421	11:94455249-94458255
41	MRE11	NM_005591.3(MRE11):c.1927-1G>T	SNV	Likely pathogenic	481761	rs1295485913	11:94169066-94169066	11:94435900-94435900
42	MRE11	NC_000011.10:g.(?_94476279)_(94479771_?)del	Deletion	Likely pathogenic	583603		11:94209445-94212937	11:94476279-94479771
43	MRE11		Duplication	Likely pathogenic	466426			11:94476283-94478882
44	MRE11	NM_005591.3(MRE11):c.659+1G>A	SNV	Likely pathogenic	230014	rs759130031	11:94209454-94209454	11:94476288-94476288
45	MRE11	NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)	SNV	Likely pathogenic	8784	rs137852761	11:94180454-94180454	11:94447288-94447288
46	MRE11	NM_005591.3(MRE11):c.497C>T (p.Pro166Leu)	SNV	Likely pathogenic	142208	rs587782308	11:94211948-94211948	11:94478782-94478782
47	MRE11	NM_005591.3(MRE11):c.1327-2A>G	SNV	Likely pathogenic	240184	rs878854776	11:94192749-94192749	11:94459583-94459583
48	MRE11	NM_005591.3(MRE11):c.1868-4C>A	SNV	Conflicting interpretations of pathogenicity	306489	rs768257868	11:94170405-94170405	11:94437239-94437239
49	MRE11	NM_005591.3(MRE11):c.426C>T (p.Asp142=)	SNV	Conflicting interpretations of pathogenicity	182547	rs3218740	11:94212019-94212019	11:94478853-94478853
50	MRE11	NM_005590.4(MRE11):c.120C>T (p.Leu40=)	SNV	Conflicting interpretations of pathogenicity	182552	rs1805364	11:94224032-94224032	11:94490866-94490866

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

⁷³

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

Sources

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 ⁴	12.03	NBN MRE11
2	Meiosis ⁶⁵ Show member pathways Meiotic recombination ⁶⁵ Meiotic synapsis ⁶⁵	12.01	NBN MRE11
3	DNA Damage Response ¹ Show member pathways miRNA Regulation of DNA Damage Response ¹ p53 signaling pathway ³⁶	11.91	NBN MRE11
4	DNA Double Strand Break Response ⁶⁵ Show member pathways Nonhomologous End-Joining (NHEJ) ⁶⁵ Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks ⁶⁵ Sensing of DNA Double Strand Breaks ⁶⁵	11.88	NBN MRE11
5	DNA Damage/Telomere Stress Induced Senescence ⁶⁵ Show member pathways Formation of Senescence-Associated Heterochromatin Foci (SAHF) ⁶⁵ Packaging Of Telomere Ends ⁶⁵ Signal transduction Activin A signaling regulation ²³	11.86	NBN MRE11
6	Homologous DNA Pairing and Strand Exchange ⁶⁵ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁵ HDR through Single Strand Annealing (SSA) ⁶⁵ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁵	11.79	NBN MRE11
7	Cellular senescence (KEGG) ³⁶	11.67	NBN MRE11
8	Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁵ Show member pathways Homologous recombination ³⁶ Homologous recombination ¹ Resolution of D-Loop Structures ⁶⁵ Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁵	11.63	NBN MRE11
9	ATM Pathway ⁶³ Show member pathways ATM Signaling Pathway ¹	11.37	NBN MRE11
10	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.29	NBN MRE11
11	Regulation of Telomerase ¹	11.14	NBN MRE11
12	ATM Signaling Network in Development and Disease ¹	10.92	NBN MRE11
13	Telomere Extension by Telomerase ⁶³ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁵	10.73	NBN MRE11
14	BARD1 signaling events ¹	10.62	NBN MRE11
15	DNA damage_NHEJ mechanisms of DSBs repair ²³	10.34	NBN MRE11
16	DDX1 as a regulatory component of the Drosha microprocessor ¹ Show member pathways RNA interference ¹	9.83	NBN MRE11

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	chromosome, telomeric region	GO:0000781	9.32	NBN MRE11
2	PML body	GO:0016605	9.26	NBN MRE11
3	site of double-strand break	GO:0035861	9.16	NBN MRE11
4	replication fork	GO:0005657	8.96	NBN MRE11
5	Mre11 complex	GO:0030870	8.62	NBN MRE11

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA replication	GO:0006260	9.55	NBN MRE11
2	cell proliferation	GO:0008283	9.54	NBN MRE11
3	regulation of signal transduction by p53 class mediator	GO:1901796	9.52	NBN MRE11
4	meiotic cell cycle	GO:0051321	9.51	NBN MRE11
5	DNA duplex unwinding	GO:0032508	9.49	NBN MRE11
6	double-strand break repair via homologous recombination	GO:0000724	9.48	NBN MRE11
7	positive regulation of kinase activity	GO:0033674	9.46	NBN MRE11
8	double-strand break repair via nonhomologous end joining	GO:0006303	9.43	NBN MRE11
9	double-strand break repair	GO:0006302	9.4	NBN MRE11
10	telomere maintenance	GO:0000723	9.37	NBN MRE11
11	positive regulation of protein autophosphorylation	GO:0031954	9.32	NBN MRE11
12	mitotic G2 DNA damage checkpoint	GO:0007095	9.26	NBN MRE11
13	DNA double-strand break processing	GO:0000729	9.16	NBN MRE11
14	positive regulation of telomere maintenance	GO:0032206	8.96	NBN MRE11
15	telomeric 3' overhang formation	GO:0031860	8.62	NBN MRE11

Sources

Sources for Ataxia-Telangiectasia-Like Disorder 1

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⁷⁴ Wikipedia

Ataxia-Telangiectasia-Like Disorder 1 (ATLD1)

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder 1

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Summaries for Ataxia-Telangiectasia-Like Disorder 1

Related Diseases for Ataxia-Telangiectasia-Like Disorder 1

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Expression for Ataxia-Telangiectasia-Like Disorder 1

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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:

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Sources for Ataxia-Telangiectasia-Like Disorder 1