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
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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 ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

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

Atld ⁵⁶ ⁵⁸ ⁷³

Atld1 ⁵⁶ ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare skin diseases

External Ids:

OMIM ⁵⁶ 604391

OMIM Phenotypic Series ⁵⁶ PS604391

MeSH ⁴³ 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 : ⁵⁶ 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 nijmegen breakage syndrome, 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 Chks in Checkpoint Regulation and Cell Cycle Checkpoints. Affiliated tissues include eye, skin and brain, and related phenotypes are mask-like facies and dysarthria

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 35)

#	Related Disease	Score	Top Affiliating Genes
1	ataxia-telangiectasia	30.0	NBN MRE11
2	nijmegen breakage syndrome	29.9	NBN MRE11
3	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	11.5
4	ataxia-telangiectasia-like disorder 2	11.3
5	apraxia	10.5
6	autosomal recessive disease	10.4
7	oculomotor apraxia	10.4
8	ataxia and polyneuropathy, adult-onset	10.3
9	telangiectasis	10.3
10	pathologic nystagmus	10.3
11	cerebellar degeneration	10.3
12	microcephaly	10.2
13	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	10.1
14	strabismus	10.1
15	ocular motor apraxia	10.1
16	lung cancer susceptibility 3	10.1
17	alacrima, achalasia, and mental retardation syndrome	10.1
18	hereditary lymphedema i	10.1
19	amenorrhea	10.1
20	autosomal dominant cerebellar ataxia	10.1
21	hypogonadism	10.1
22	adenocarcinoma	10.1
23	dystonia	10.1
24	mechanical strabismus	10.1
25	spastic paraparesis	10.1
26	rare ataxia	10.1
27	alpha-thalassemia/mental retardation syndrome, x-linked	9.6	NBN MRE11
28	lig4 syndrome	9.6	NBN MRE11
29	hereditary breast ovarian cancer syndrome	9.6	NBN MRE11
30	werner syndrome	9.6	NBN MRE11
31	autosomal recessive cerebellar ataxia	9.5	NBN MRE11
32	seckel syndrome	9.5	NBN MRE11
33	lynch syndrome	9.5	NBN MRE11
34	xeroderma pigmentosum, variant type	9.4	NBN MRE11
35	fanconi anemia, complementation group a	9.2	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	mask-like facies ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000298
2	dysarthria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001260
3	dysmetria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001310
4	dystonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001332
5	chorea ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002072
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	dysmetric saccades ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000641
28	vertical nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010544
29	small posterior fossa ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0040010
30	gaze-evoked nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000640
31	abnormality of ocular smooth pursuit ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000617
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	impaired smooth pursuit ³¹			HP:0007772
40	increased sensitivity to ionizing radiation ³¹			HP:0011133
41	hypometric saccades ³¹			HP:0000571

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
dysarthria
dystonia
dysdiadochokinesis
chorea
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

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, Skin, Brain, Lung, B Cells, Neutrophil

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Publications for Ataxia-Telangiectasia-Like Disorder 1

Articles related to Ataxia-Telangiectasia-Like Disorder 1:

(show top 50) (show all 70)

#	Title	Authors	PMID	Year
1	MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. ⁶¹ ⁶ ⁵⁴ ⁵⁶	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. ⁵⁶ ⁶¹ ⁶	Fernet M...Koenig M	15574463	2005
3	hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. ⁶¹ ⁵⁶ ⁶	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. ⁶¹ ⁶ ⁵⁶	Stewart GS...Taylor AM	10612394	1999
5	Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia. ⁶ ⁵⁶	Miyamoto R...Kawakami H	24332946	2014
6	Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. ⁵⁶ ⁶	Chaki M...Hildebrandt F	22863007	2012
7	Ataxia without telangiectasia masquerading as benign hereditary chorea. ⁶ ⁵⁶	Klein C...Marsden CD	8684395	1996
8	A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. ⁵⁶ ⁶	Hernandez D...Taylor AM	8445618	1993
9	EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ⁶	Gasser T...EFNS	20050888	2010
10	Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. ⁶¹ ⁵⁴	Oba D...Mizutani S	20087742	2010
11	A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation. ⁶¹ ⁵⁴	Du L...Pan-Hammarstrom Q	18575580	2008
12	Independent roles for nibrin and Mre11-Rad50 in the activation and function of Atm. ⁶¹ ⁵⁴	Cerosaletti K...Concannon P	15234984	2004
13	The Drosophila Mre11/Rad50 complex is required to prevent both telomeric fusion and chromosome breakage. ⁵⁴ ⁶¹	Ciapponi L...Gatti M	15296753	2004
14	Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes. ⁵⁴ ⁶¹	Lee JH...Paull TT	12966088	2003
15	Human MRE11 is inactivated in mismatch repair-deficient cancers. ⁶¹ ⁵⁴	Giannini G...Gulino A	11850399	2002
16	FXR1 is a novel MRE11-binding partner and participates in oxidative stress responses. ⁶¹	Qi F...Kobayashi J	32211858	2020
17	Ataxia telangiectasia like disorder: Another dopa-responsive disorder look-alike? ⁶¹	Ser MH...Basak AN	32289520	2020
18	RAD50 regulates mitotic progression independent of DNA repair functions. ⁶¹	Volkening L...Dork T	31908056	2020
19	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
20	Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant. ⁶¹	Sedghi M...Tajsharghi H	30584599	2018
21	[Ataxia telangiectasia-like disorder -a child with a novel variant in MRE11A gene]. ⁶¹	Aquino J...Vasconcelos M	28699156	2017
22	MRE11 stability is regulated by CK2-dependent interaction with R2TP complex. ⁶¹	von Morgen P...Horejsi Z	28436950	2017
23	Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. ⁶¹	Federighi P...Rufa A	29170652	2017
24	Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? ⁶¹	Yoshida T...Heike T	24733832	2014
25	Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms. ⁶¹	Regal JA...Ferguson DO	23912341	2013
26	Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. ⁶¹	Palmeri S...Federico A	23436002	2013
27	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
28	Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. ⁶¹	Wolf NI...Koenig M	23622410	2013
29	Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair. ⁶¹	Limbo O...Russell P	23080121	2012
30	Mre11 modulates the fidelity of fusion between short telomeres in human cells. ⁶¹	Tankimanova M...Baird DM	22139912	2012
31	Mre11 regulates CtIP-dependent double-strand break repair by interaction with CDK2. ⁶¹	Buis J...Ferguson DO	22231403	2012
32	Oxidative stress in developmental brain disorders. ⁶¹	Hayashi M...Tanuma N	22411250	2012
33	Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. ⁶¹	Matsumoto Y...Matsuura S	21227757	2011
34	Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. ⁶¹	Uchisaka N...Morio T	19732584	2009
35	Ataxias with autosomal, X-chromosomal or maternal inheritance. ⁶¹	Finsterer J	19650351	2009
36	Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. ⁶¹	Waltes R...Dork T	19409520	2009
37	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
38	Ataxia with oculomotor apraxia. ⁶¹	Liu W...Narayanan V	19073331	2008
39	DNA repair by the MRN complex: break it to make it. ⁶¹	Kanaar R...Wyman C	18854148	2008
40	Mre11 dimers coordinate DNA end bridging and nuclease processing in double-strand-break repair. ⁶¹	Williams RS...Tainer JA	18854158	2008
41	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
42	Ophthalmic features of ataxia telangiectasia-like disorder. ⁶¹	Khan AO...Salih MA	18083591	2008
43	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
44	The Mre11 complex mediates the S-phase checkpoint through an interaction with replication protein A. ⁶¹	Olson E...Wu X	17591703	2007
45	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
46	A subgroup of spinocerebellar ataxias defective in DNA damage responses. ⁶¹	Gueven N...Lavin MF	17224243	2007
47	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
48	Mechanisms of disease: DNA repair defects and neurological disease. ⁶¹	Subba Rao K	17342192	2007
49	Spinocerebellar ataxia with ocular motor apraxia and DNA repair. ⁶¹	Onodera O	16961074	2006
50	Rad50S alleles of the Mre11 complex: questions answered and questions raised. ⁶¹	Usui T...Morales M	16857186	2006

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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	1682.29	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Variants (show sections)	22863007 15269180 10612394 (more) 11371508 20050888 24332946 8684395 8445618 15574463 15269180 15296753 20087742 15234984 11850399 12966088
2	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 407) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MRE11	NM_005591.3(MRE11):c.1414G>T (p.Glu472Ter)	SNV	Pathogenic	481748	rs1376550081	11:94192660-94192660	11:94459494-94459494
2	MRE11	NM_005590.4(MRE11):c.1047_1048del (p.Glu350fs)	deletion	Pathogenic	660377		11:94201029-94201030	11:94467863-94467864
3	MRE11	NM_005591.3(MRE11):c.664A>T (p.Lys222Ter)	SNV	Pathogenic	659921		11:94204921-94204921	11:94471755-94471755
4	MRE11	NC_000011.10:g.(?_94470461)_(94492811_?)del	deletion	Pathogenic	833144		11:94203627-94225977
5	MRE11	NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)	SNV	Pathogenic	825924		11:94209543-94209543	11:94476377-94476377
6	MRE11	NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)	SNV	Pathogenic	8782	rs137852759	11:94170372-94170372	11:94437206-94437206
7	MRE11	NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys)	SNV	Pathogenic	8785	rs137852762	11:94192632-94192632	11:94459466-94459466
8	MRE11	NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)	SNV	Pathogenic	8786	rs137852763	11:94209484-94209484	11:94476318-94476318
9	MRE11	NM_005591.3(MRE11):c.1090C>T (p.Arg364Ter)	SNV	Pathogenic	140953	rs371077728	11:94200987-94200987	11:94467821-94467821
10	MRE11	NM_005590.4(MRE11):c.1726C>T (p.Arg576Ter)	SNV	Pathogenic	184445	rs774277300	11:94180442-94180442	11:94447276-94447276
11	MRE11	NM_005590.4(MRE11):c.739dup (p.His247fs)	duplication	Pathogenic	187699	rs786203931	11:94204845-94204846	11:94471679-94471680
12	MRE11	NM_005591.3(MRE11):c.504_511del (p.Leu169fs)	deletion	Pathogenic	185530	rs786202253	11:94211934-94211941	11:94478768-94478775
13	MRE11	NM_005591.3(MRE11):c.1143del (p.Phe381fs)	deletion	Pathogenic	216094	rs863224508	11:94197361-94197361	11:94464195-94464195
14	MRE11	NM_005591.3(MRE11):c.1447C>T (p.Arg483Ter)	SNV	Pathogenic	231449	rs780001540	11:94192627-94192627	11:94459461-94459461
15	MRE11	NM_005591.3(MRE11):c.659+1G>A	SNV	Pathogenic/Likely pathogenic	230014	rs759130031	11:94209454-94209454	11:94476288-94476288
16	MRE11	NM_005590.4(MRE11):c.1222dup (p.Thr408fs)	duplication	Pathogenic/Likely pathogenic	184556	rs774440500	11:94197281-94197282	11:94464115-94464116
17	MRE11	NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)	SNV	Pathogenic/Likely pathogenic	8784	rs137852761	11:94180454-94180454	11:94447288-94447288
18	MRE11	NM_005591.3(MRE11):c.1927-2A>G	SNV	Likely pathogenic	141533	rs587781822	11:94169067-94169067	11:94435901-94435901
19	MRE11	NC_000011.9:g.(?_94194092)_(94212937_?)dup	duplication	Likely pathogenic	658977		11:94194092-94212937	11:94460926-94479771
20	MRE11	NM_005590.4(MRE11):c.1500+1153_1563+1027del	deletion	Likely pathogenic	638600		11:94188415-94191421	11:94455249-94458255
21	MRE11	NM_005591.4(MRE11):c.1112dup (p.Gly372fs)	duplication	Likely pathogenic	807446		11:94197391-94197392	11:94464225-94464226
22	MRE11	NM_005591.4(MRE11):c.818_819CT[1] (p.Leu274fs)	short repeat	Likely pathogenic	807630		11:94204764-94204765	11:94471598-94471599
23	MRE11		duplication	Likely pathogenic	466426			11:94476283-94478882
24	MRE11	NM_005591.3(MRE11):c.1927-1G>T	SNV	Likely pathogenic	481761	rs1295485913	11:94169066-94169066	11:94435900-94435900
25	MRE11	NC_000011.10:g.(?_94476279)_(94479771_?)del	deletion	Likely pathogenic	583603		11:94209445-94212937	11:94476279-94479771
26	MRE11	NM_005591.3(MRE11):c.1327-2A>G	SNV	Likely pathogenic	240184	rs878854776	11:94192749-94192749	11:94459583-94459583
27	MRE11	NM_005591.3(MRE11):c.1783+10G>C	SNV	Conflicting interpretations of pathogenicity	220576	rs864622589	11:94180375-94180375	11:94447209-94447209
28	MRE11	NM_005591.3(MRE11):c.1783+7A>G	SNV	Conflicting interpretations of pathogenicity	220059	rs774520952	11:94180378-94180378	11:94447212-94447212
29	MRE11	NM_005591.3(MRE11):c.1233G>A (p.Glu411=)	SNV	Conflicting interpretations of pathogenicity	230703	rs748756180	11:94194195-94194195	11:94461029-94461029
30	MRE11	NM_005591.3(MRE11):c.18A>T (p.Ala6=)	SNV	Conflicting interpretations of pathogenicity	306496	rs758314845	11:94225950-94225950	11:94492784-94492784
31	MRE11	NM_005591.3(MRE11):c.1868-4C>A	SNV	Conflicting interpretations of pathogenicity	306489	rs768257868	11:94170405-94170405	11:94437239-94437239
32	MRE11	NM_005591.3(MRE11):c.20+8C>A	SNV	Conflicting interpretations of pathogenicity	534779	rs766581183	11:94225940-94225940	11:94492774-94492774
33	MRE11	NM_005591.3(MRE11):c.1226-5T>C	SNV	Conflicting interpretations of pathogenicity	548916	rs1555009952	11:94194207-94194207	11:94461041-94461041
34	MRE11	NM_005591.3(MRE11):c.1183A>G (p.Ile395Val)	SNV	Conflicting interpretations of pathogenicity	466428	rs775670175	11:94197321-94197321	11:94464155-94464155
35	MRE11	NM_005591.3(MRE11):c.423G>A (p.Leu141=)	SNV	Conflicting interpretations of pathogenicity	483603	rs199540078	11:94212022-94212022	11:94478856-94478856
36	MRE11	NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)	SNV	Conflicting interpretations of pathogenicity	8783	rs137852760	11:94212892-94212892	11:94479726-94479726
37	MRE11	NM_005591.4(MRE11):c.1130G>A (p.Ser377Asn)	SNV	Conflicting interpretations of pathogenicity	822223		11:94197374-94197374	11:94464208-94464208
38	MRE11	NM_005591.3(MRE11):c.469A>G (p.Met157Val)	SNV	Conflicting interpretations of pathogenicity	142476	rs147771140	11:94211976-94211976	11:94478810-94478810
39	MRE11	NM_005591.3(MRE11):c.1798G>C (p.Glu600Gln)	SNV	Conflicting interpretations of pathogenicity	142511	rs145415033	11:94179045-94179045	11:94445879-94445879
40	MRE11	NM_005591.3(MRE11):c.822T>C (p.Leu274=)	SNV	Conflicting interpretations of pathogenicity	182549	rs137868143	11:94204763-94204763	11:94471597-94471597
41	MRE11	NM_005591.3(MRE11):c.426C>T (p.Asp142=)	SNV	Conflicting interpretations of pathogenicity	182547	rs3218740	11:94212019-94212019	11:94478853-94478853
42	MRE11	NM_005590.4(MRE11):c.120C>T (p.Leu40=)	SNV	Conflicting interpretations of pathogenicity	182552	rs1805364	11:94224032-94224032	11:94490866-94490866
43	MRE11	NM_005591.3(MRE11):c.77T>C (p.Met26Thr)	SNV	Conflicting interpretations of pathogenicity	182553	rs372068015	11:94224075-94224075	11:94490909-94490909
44	MRE11	NM_005591.3(MRE11):c.-95A>G	SNV	Conflicting interpretations of pathogenicity	182546	rs191426010	11:94226062-94226062	11:94492896-94492896
45	MRE11	NM_005591.4(MRE11):c.2070+2T>A	SNV	Conflicting interpretations of pathogenicity	186243	rs786202801	11:94163075-94163075	11:94429909-94429909
46	MRE11	NM_005591.3(MRE11):c.660-5T>G	SNV	Conflicting interpretations of pathogenicity	141607	rs587781873	11:94204930-94204930	11:94471764-94471764
47	MRE11	NM_005591.3(MRE11):c.1643T>C (p.Ile548Thr)	SNV	Conflicting interpretations of pathogenicity	142542	rs373522639	11:94180525-94180525	11:94447359-94447359
48	MRE11	NM_005591.3(MRE11):c.1462C>T (p.Arg488Cys)	SNV	Conflicting interpretations of pathogenicity	127972	rs375261439	11:94192612-94192612	11:94459446-94459446
49	MRE11	NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln)	SNV	Conflicting interpretations of pathogenicity	127974	rs139461096	11:94180441-94180441	11:94447275-94447275
50	MRE11	NM_005591.3(MRE11):c.1811G>C (p.Arg604Pro)	SNV	Conflicting interpretations of pathogenicity	127977	rs148637964	11:94179032-94179032	11:94445866-94445866

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.

Sources

Pathways for Ataxia-Telangiectasia-Like Disorder 1

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

(show all 18)

#	Super pathways	Score	Top Affiliating Genes
1	Chks in Checkpoint Regulation ⁶³ Show member pathways DNA Repair Mechanisms ⁶³ Estrogen-mediated S-Phase Entry ⁶³ G2-M Phase Transition ⁶³ Parkinson's Disease Pathway ⁶³ SREBP Proteolysis ⁶³	12.18	NBN MRE11
2	Cell Cycle Checkpoints ⁶⁵ Show member pathways G2/M Checkpoints ⁶⁵	12.14	NBN MRE11
3	DNA Damage ⁴	12.03	NBN MRE11
4	Meiosis ⁶⁵ Show member pathways Meiotic recombination ⁶⁵ Meiotic synapsis ⁶⁵	12.01	NBN MRE11
5	DNA Damage Response ¹ Show member pathways miRNA Regulation of DNA Damage Response ¹ p53 signaling pathway ³⁶	11.91	NBN MRE11
6	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
7	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 ²²	11.86	NBN MRE11
8	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
9	Cellular senescence (KEGG) ³⁶	11.67	NBN MRE11
10	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
11	ATM Pathway ⁶³ Show member pathways ATM Signaling Pathway ¹	11.37	NBN MRE11
12	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.29	NBN MRE11
13	Regulation of Telomerase ¹	11.14	NBN MRE11
14	ATM Signaling Network in Development and Disease ¹	10.92	NBN MRE11
15	Telomere Extension by Telomerase ⁶³ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁵	10.73	NBN MRE11
16	BARD1 signaling events ¹	10.62	NBN MRE11
17	DNA damage_NHEJ mechanisms of DSBs repair ²²	10.34	NBN MRE11
18	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	GO:0005694	9.4	NBN MRE11
2	nuclear chromosome, telomeric region	GO:0000784	9.37	NBN MRE11
3	PML body	GO:0016605	9.32	NBN MRE11
4	chromosome, telomeric region	GO:0000781	9.26	NBN MRE11
5	site of double-strand break	GO:0035861	9.16	NBN MRE11
6	replication fork	GO:0005657	8.96	NBN MRE11
7	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 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	viral process	GO:0016032	9.58	NBN MRE11
2	cellular response to DNA damage stimulus	GO:0006974	9.57	NBN MRE11
3	DNA repair	GO:0006281	9.56	NBN MRE11
4	DNA replication	GO:0006260	9.55	NBN MRE11
5	cell proliferation	GO:0008283	9.54	NBN MRE11
6	regulation of signal transduction by p53 class mediator	GO:1901796	9.52	NBN MRE11
7	meiotic cell cycle	GO:0051321	9.51	NBN MRE11
8	double-strand break repair via homologous recombination	GO:0000724	9.49	NBN MRE11
9	DNA duplex unwinding	GO:0032508	9.48	NBN MRE11
10	positive regulation of kinase activity	GO:0033674	9.46	NBN MRE11
11	double-strand break repair via nonhomologous end joining	GO:0006303	9.43	NBN MRE11
12	double-strand break repair	GO:0006302	9.4	NBN MRE11
13	telomere maintenance	GO:0000723	9.37	NBN MRE11
14	positive regulation of protein autophosphorylation	GO:0031954	9.32	NBN MRE11
15	mitotic G2 DNA damage checkpoint	GO:0007095	9.26	NBN MRE11
16	DNA double-strand break processing	GO:0000729	9.16	NBN MRE11
17	positive regulation of telomere maintenance	GO:0032206	8.96	NBN MRE11
18	telomeric 3' overhang formation	GO:0031860	8.62	NBN MRE11

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

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA helicase activity	GO:0003678	8.62	NBN MRE11

Sources

Sources for Ataxia-Telangiectasia-Like Disorder 1

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⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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:

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OMIM:

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Summaries for Ataxia-Telangiectasia-Like Disorder 1

Related Diseases for Ataxia-Telangiectasia-Like Disorder 1

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

Symptoms & Phenotypes for Ataxia-Telangiectasia-Like Disorder 1

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

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

UniProtKB/Swiss-Prot 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