Seckel Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCKL1 MCID: SCK009 MIFTS: 48	Seckel Syndrome 1 (SCKL1) Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Seckel Syndrome 1

MalaCards integrated aliases for Seckel Syndrome 1:

Name: Seckel Syndrome 1 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ¹⁵

Microcephalic Primordial Dwarfism I ⁵⁷ ¹² ⁷²

Nanocephalic Dwarfism ⁵⁷ ⁷² ⁶

Sckl1 ⁵⁷ ¹² ⁷²

Seckel-Type Dwarfism ⁵⁷ ⁷²

Bird-Headed Dwarfism ⁵⁷ ⁷²

Seckel Syndrome, Type 1 ³⁹

Seckel Syndrome ⁷⁰

Sckl ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
half of cases show retarded head circumference equal to height retardation
other half show head circumference more retarded than height

HPO:

³¹

seckel syndrome 1:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Mental diseases Bone diseases Eye diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070007

OMIM® ⁵⁷ 210600

OMIM Phenotypic Series ⁵⁷ PS210600

MeSH ⁴⁴ D004392 D008831

MedGen ⁴¹ C0265202 C4551474

UMLS ⁷⁰ C0265202

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Summaries for Seckel Syndrome 1

UniProtKB/Swiss-Prot : ⁷² Seckel syndrome 1: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.

MalaCards based summary : Seckel Syndrome 1, also known as microcephalic primordial dwarfism i, is related to seckel syndrome 8 and seckel syndrome 2, and has symptoms including seizures An important gene associated with Seckel Syndrome 1 is ATR (ATR Serine/Threonine Kinase), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Cell Cycle, Mitotic. Affiliated tissues include bone and myeloid, and related phenotypes are intellectual disability and scoliosis

Disease Ontology : ¹² A Seckel syndrome that has material basis in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23.

OMIM® : ⁵⁷ Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). (210600) (Updated 05-Apr-2021)

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Related Diseases for Seckel Syndrome 1

Diseases in the Seckel Syndrome family:

Seckel Syndrome 1	Seckel Syndrome 2
Seckel Syndrome 4	Seckel Syndrome 5
Seckel Syndrome 6	Seckel Syndrome 7
Seckel Syndrome 8	Seckel Syndrome 9
Seckel Syndrome 10

Diseases related to Seckel Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)

#	Related Disease	Score	Top Affiliating Genes
1	seckel syndrome 8	31.6	RBBP8 CEP152
2	seckel syndrome 2	29.6	RFC2 RBBP8 PCNT MNAT1 CNTLN CEP152
3	seckel syndrome	29.6	RFC2 RBBP8 PCNT NHEJ1 CNTLN CEP152
4	microcephaly	29.5	RBBP8 PCNT NHEJ1 CEP152 CENPJ ATR
5	isolated growth hormone deficiency, type ia	29.5	RBBP8 PCNT CNTLN CEP152 CENPJ ATR
6	microcephalic primordial dwarfism, montreal type	11.6
7	bangstad syndrome	11.5
8	seckel like syndrome majoor-krakauer type	11.3
9	microcephaly 8, primary, autosomal recessive	10.2	CEP152 CENPJ
10	microcephaly 14, primary, autosomal recessive	10.2	CEP152 CENPJ
11	microcephaly 10, primary, autosomal recessive	10.2	CEP152 CENPJ
12	microcephaly 17, primary, autosomal recessive	10.2	CEP152 CENPJ
13	microcephalic osteodysplastic primordial dwarfism, type i	10.2
14	dwarfism	10.2
15	microcephaly 12, primary, autosomal recessive	10.2	CEP152 CENPJ
16	microcephaly 11, primary, autosomal recessive	10.2	CEP152 CENPJ
17	microcephaly 9, primary, autosomal recessive	10.2	CEP152 CENPJ
18	microcephaly 3, primary, autosomal recessive	10.2	CEP152 CENPJ
19	microcephaly 7, primary, autosomal recessive	10.2	CEP152 CENPJ
20	microcephaly 4, primary, autosomal recessive	10.2	CEP152 CENPJ
21	microcephaly 18, primary, autosomal dominant	10.1	CEP152 CENPJ
22	microcephalic osteodysplastic primordial dwarfism, type iii	10.1
23	aplastic anemia	10.1
24	pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	10.1
25	craniosynostosis	10.1
26	microcephaly 5, primary, autosomal recessive	10.1	CEP152 CENPJ
27	microcephaly 1, primary, autosomal recessive	10.1	CEP152 CENPJ
28	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	10.0	CNTLN CEP152 CENPJ
29	microcephaly 6, primary, autosomal recessive	10.0	CNTLN CEP152 CENPJ
30	mosaic variegated aneuploidy syndrome	10.0	PCNT CNTLN CEP152
31	isolated growth hormone deficiency	9.9	PCNT CNTLN CEP152 CENPJ
32	microcephalic osteodysplastic primordial dwarfism, type ii	9.9	PCNT CNTLN CEP152 CENPJ
33	physical disorder	9.8	PCNT CNTLN CEP152 CENPJ
34	seckel syndrome 5	9.8	RBBP8 PCNT CEP152 CENPJ
35	congenital nervous system abnormality	9.6	PCNT NHEJ1 CNTLN CEP152 CENPJ
36	joubert syndrome 1	9.6	PCNT CNTLN CEP152 CENPJ
37	primary autosomal recessive microcephaly	9.6	RBBP8 PCNT CNTLN CEP152 CENPJ
38	fanconi anemia, complementation group a	9.3	RBBP8 NHEJ1 CNTLN ATR
39	seckel syndrome 4	9.1	RFC2 RBBP8 PCNT CNTLN CEP152 CENPJ

Graphical network of the top 20 diseases related to Seckel Syndrome 1:

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Symptoms & Phenotypes for Seckel Syndrome 1

Human phenotypes related to Seckel Syndrome 1:

³¹ (show all 48)

#	Description	HPO Source Accession
1	intellectual disability ³¹	HP:0001249
2	scoliosis ³¹	HP:0002650
3	high palate ³¹	HP:0000218
4	delayed skeletal maturation ³¹	HP:0002750
5	dental malocclusion ³¹	HP:0000689
6	pes planus ³¹	HP:0001763
7	microcephaly ³¹	HP:0000252
8	strabismus ³¹	HP:0000486
9	cleft palate ³¹	HP:0000175
10	cryptorchidism ³¹	HP:0000028
11	intrauterine growth retardation ³¹	HP:0001511
12	postnatal growth retardation ³¹	HP:0008897
13	micrognathia ³¹	HP:0000347
14	low-set ears ³¹	HP:0000369
15	elbow flexion contracture ³¹	HP:0002987
16	dental crowding ³¹	HP:0000678
17	downslanted palpebral fissures ³¹	HP:0000494
18	sandal gap ³¹	HP:0001852
19	clinodactyly of the 5th finger ³¹	HP:0004209
20	facial asymmetry ³¹	HP:0000324
21	talipes ³¹	HP:0001883
22	hip dislocation ³¹	HP:0002827
23	hypospadias ³¹	HP:0000047
24	blepharophimosis ³¹	HP:0000581
25	convex nasal ridge ³¹	HP:0000444
26	pachygyria ³¹	HP:0001302
27	sloping forehead ³¹	HP:0000340
28	single transverse palmar crease ³¹	HP:0000954
29	prominent nose ³¹	HP:0000448
30	cerebellar vermis hypoplasia ³¹	HP:0001320
31	cone-shaped epiphyses of the phalanges of the hand ³¹	HP:0010230
32	dislocated radial head ³¹	HP:0003083
33	hyperactivity ³¹	HP:0000752
34	pancytopenia ³¹	HP:0001876
35	11 pairs of ribs ³¹	HP:0000878
36	abnormality of the pinna ³¹	HP:0000377
37	hypoplasia of dental enamel ³¹	HP:0006297
38	selective tooth agenesis ³¹	HP:0001592
39	proportionate short stature ³¹	HP:0003508
40	hypoplasia of proximal radius ³¹	HP:0006434
41	clitoral hypertrophy ³¹	HP:0008665
42	abnormally large globe ³¹	HP:0001090
43	abnormal finger flexion creases ³¹	HP:0006143
44	small anterior fontanelle ³¹	HP:0000237
45	large basal ganglia ³¹	HP:0007048
46	seizure ³¹	HP:0001250
47	hypoplasia of proximal fibula ³¹	HP:0006442
48	ivory epiphyses ³¹	HP:0010583

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Neurologic Central Nervous System:
seizures
pachygyria
large basal ganglia
mental retardation
arachnoidal cysts
more

Skeletal Feet:
pes planus
talipes
gap between first and second toes

Head And Neck Mouth:
cleft palate
high-arched palate

Head And Neck Face:
micrognathia
facial asymmetry
sloping forehead

Head And Neck Teeth:
dental crowding
selective tooth agenesis
enamel hypoplasia
class ii malocclusion

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Nose:
prominent nose
beaked nose

Hematology:
pancytopenia
increased sister chromatid exchange

Skeletal Hands:
abnormal finger flexion creases
fifth finger clinodactyly
transverse palmar creases
ivory epiphyses (phalanges)
cone-shaped epiphyses (phalanges)

Skeletal:
delayed bone age

Growth Height:
short stature, proportionate

Head And Neck Head:
microcephaly, severe
small anterior fontanel

Skeletal Spine:
scoliosis

Head And Neck Eyes:
strabismus
blepharophimosis
downslanting palpebral fissures
relatively large eyes

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Limbs:
elbow flexion contracture
hypoplasia of proximal radius
hypoplasia of proximal fibula
radial head dislocation
aberrant patellae

Skeletal Pelvis:
hip dislocation

Genitourinary External Genitalia Female:
clitoromegaly

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs

Skin Nails Hair Skin:
abnormal finger flexion creases
transverse palmar creases

Growth Other:
prenatal growth retardation
postnatal growth retardation (-7 s.d.)

Growth Weight:
average birth weight 1540g

Head And Neck Ears:
low-set, malformed ears
absence of earlobe

Clinical features from OMIM®:

210600 (Updated 05-Apr-2021)

UMLS symptoms related to Seckel Syndrome 1:

seizures

GenomeRNAi Phenotypes related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased homologous recombination repair frequency	GR00151-A-1	9.65	RBBP8
2	Decreased homologous recombination repair frequency	GR00151-A-2	9.65	RBBP8
3	Decreased homologous recombination repair frequency	GR00236-A-1	9.65	RBBP8 RFC2
4	Decreased homologous recombination repair frequency	GR00236-A-2	9.65	ATR RBBP8 RFC2
5	Decreased homologous recombination repair frequency	GR00236-A-3	9.65	ATR RBBP8 RFC2
6	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.1	ATR
7	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.1	ATR MNAT1
8	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.1	ATR RBBP8 RFC2

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Drugs & Therapeutics for Seckel Syndrome 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII).	Completed	NCT03139903

Search NIH Clinical Center for Seckel Syndrome 1

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Genetic Tests for Seckel Syndrome 1

Genetic tests related to Seckel Syndrome 1:

#	Genetic test	Affiliating Genes
1	Seckel Syndrome 1 ²⁹	ATR

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Anatomical Context for Seckel Syndrome 1

MalaCards organs/tissues related to Seckel Syndrome 1:

⁴⁰

Bone, Myeloid

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Publications for Seckel Syndrome 1

Articles related to Seckel Syndrome 1:

(show all 28)

#	Title	Authors	PMID	Year
1	Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations. ⁵⁷ ⁶	Mokrani-Benhelli H...Revy P	23111928	2013
2	Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. ⁵⁷ ⁶	Ogi T...Jeggo PA	23144622	2012
3	A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. ⁵⁷ ⁶	O'Driscoll M...Goodship JA	12640452	2003
4	Is the novel SCKL3 at 14q23 the predominant Seckel locus? ⁵⁷ ⁶¹	Kilinc MO...Tolun A	14571270	2003
5	A case of Seckel syndrome with Tetralogy of Fallot. ⁵⁷	Can E...Nuhoglu A	20420029	2010
6	A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging. ⁵⁷	Murga M...Fernandez-Capetillo O	19620979	2009
7	Clinical and genetic heterogeneity of Seckel syndrome. ⁵⁷	Faivre L...Cormier-Daire V	12376940	2002
8	ATR and ATRIP: partners in checkpoint signaling. ⁶	Cortez D...Elledge SJ	11721054	2001
9	Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24. ⁵⁷	Goodship J...Wright M	10889046	2000
10	ATR disruption leads to chromosomal fragmentation and early embryonic lethality. ⁶	Brown EJ...Baltimore D	10691732	2000
11	Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. ⁵⁷	Abou-Zahr F...Youssoufian H	10232749	1999
12	Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. ⁵⁷	Shanske A...Marion RW	9128935	1997
13	Acute myeloid leukaemia in a patient with Seckel syndrome. ⁵⁷	Hayani A...Godwin J	8182723	1994
14	Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. ⁵⁷	Sugio Y...Kajii T	8358044	1993
15	Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? ⁵⁷	Butler MG...Lozzio CB	3115102	1987
16	Seckel syndrome: an overdiagnosed syndrome. ⁵⁷	Thompson E...Pembrey M	4040172	1985
17	Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. ⁵⁷	Majewski F...Goecke T	7046443	1982
18	Microcephalic dwarfism in sisters. ⁵⁷	Bixler D...Antley RM	4214170	1974
19	Familial bird-headed dwarfism (Seckel's syndrome). ⁵⁷	Sauk JJ...Delaney JR	4714590	1973
20	Seckel's bird-headed dwarfism. ⁵⁷	McKusick VA...Kepas D	4378248	1967
21	Bird-beaded dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies. ⁵⁷	Harper RG...Baker RK	6022184	1967
22	Low birth weight dwarfism. ⁵⁷	BLACK J	13869653	1961
23	The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso). ⁶¹	Ouattara ABI...Nacro B	32308969	2020
24	CtIP Mutations Cause Seckel and Jawad Syndromes. ⁶¹	Qvist P...Borglum AD	21998596	2011
25	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶¹	Verloes A...Passemard S	20301772	2009
26	Mice hypomorphic for Atr have increased DNA damage and abnormal checkpoint response. ⁶¹	Ragland RL...Glover TW	19504344	2009
27	Chromosomal instability at common fragile sites in Seckel syndrome. ⁶¹	Casper AM...Glover TW	15309689	2004
28	A new Seckel-like syndrome of primordial dwarfism. ⁶¹	Buebel MS...Perez-Comas A	8862620	1996

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Genes for Seckel Syndrome 1

Genes related to Seckel Syndrome 1 (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ATR	ATR Serine/Threonine Kinase	Protein Coding	1060.12	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)	12640452 10691732 11721054
2	CEP152	Centrosomal Protein 152	Protein Coding	31.85	Likely pathogenic ⁶ DISEASES inferred ¹⁵
3	CENPJ	Centromere Protein J	Protein Coding	13.79	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
4	DOCK8-AS1	DOCK8 Antisense RNA 1	RNA Gene	6.52	DISEASES inferred ¹⁵
5	EXOC3L4	Exocyst Complex Component 3 Like 4	Protein Coding	6.5	DISEASES inferred ¹⁵
6	SUSD1	Sushi Domain Containing 1	Protein Coding	6.49	DISEASES inferred ¹⁵
7	MFSD2B	Major Facilitator Superfamily Domain Containing 2B	Protein Coding	6.3	DISEASES inferred ¹⁵
8	PCNT	Pericentrin	Protein Coding	6.29	DISEASES inferred ¹⁵
9	CNTLN	Centlein	Protein Coding	5.98	DISEASES inferred ¹⁵
10	NHEJ1	Non-Homologous End Joining Factor 1	Protein Coding	5.78	DISEASES inferred ¹⁵
11	RBBP8	RB Binding Protein 8, Endonuclease	Protein Coding	5.74	DISEASES inferred ¹⁵
12	MNAT1	MNAT1 Component Of CDK Activating Kinase	Protein Coding	5.61	DISEASES inferred ¹⁵
13	RFC2	Replication Factor C Subunit 2	Protein Coding	5.61	DISEASES inferred ¹⁵
14	CA10	Carbonic Anhydrase 10	Protein Coding	5.48	DISEASES inferred ¹⁵

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Variations for Seckel Syndrome 1

ClinVar genetic disease variations for Seckel Syndrome 1:

⁶ (show top 50) (show all 175)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ATR	NM_001184.4(ATR):c.2022A>G (p.Gly674=)	SNV	Pathogenic	8307	rs587776690	GRCh37: 3:142275281-142275281 GRCh38: 3:142556439-142556439
2	ATR	NM_001184.4(ATR):c.5635G>T (p.Asp1879Tyr)	SNV	Pathogenic	41901	rs387907327	GRCh37: 3:142215958-142215958 GRCh38: 3:142497116-142497116
3	ATR	NM_001184.4(ATR):c.3477G>T (p.Met1159Ile)	SNV	Pathogenic	156536	rs587777851	GRCh37: 3:142259850-142259850 GRCh38: 3:142541008-142541008
4	ATR	NM_001184.4(ATR):c.6897+464C>G	SNV	Pathogenic	156537	rs587777852	GRCh37: 3:142184702-142184702 GRCh38: 3:142465860-142465860
5	ATR	NM_001184.4(ATR):c.4641+1G>T	SNV	Pathogenic	210488	rs797045403	GRCh37: 3:142232342-142232342 GRCh38: 3:142513500-142513500
6	ATR	NM_001184.4(ATR):c.3043C>T (p.Arg1015Ter)	SNV	Pathogenic	977841		GRCh37: 3:142268449-142268449 GRCh38: 3:142549607-142549607
7	ATR	NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter)	SNV	Likely pathogenic	930484		GRCh37: 3:142178145-142178145 GRCh38: 3:142459303-142459303
8	ATR	NM_001184.4(ATR):c.5196+1G>A	SNV	Likely pathogenic	434454	rs1553760567	GRCh37: 3:142223980-142223980 GRCh38: 3:142505138-142505138
9	CEP152	NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter)	SNV	Likely pathogenic	517617	rs1342429887	GRCh37: 15:49089724-49089724 GRCh38: 15:48797527-48797527
10	ATR	NM_001184.4(ATR):c.4995G>T (p.Lys1665Asn)	SNV	Likely pathogenic	559542	rs1553761113	GRCh37: 3:142226809-142226809 GRCh38: 3:142507967-142507967
11	ATR	NM_001184.4(ATR):c.151+4A>G	SNV	Likely pathogenic	559543	rs1481733213	GRCh37: 3:142286901-142286901 GRCh38: 3:142568059-142568059
12	ATR	NM_001184.4(ATR):c.2688G>A (p.Leu896=)	SNV	Conflicting interpretations of pathogenicity	157972	rs117926957	GRCh37: 3:142272186-142272186 GRCh38: 3:142553344-142553344
13	ATR	NM_001184.4(ATR):c.2290A>G (p.Lys764Glu)	SNV	Conflicting interpretations of pathogenicity	157970	rs77208665	GRCh37: 3:142274770-142274770 GRCh38: 3:142555928-142555928
14	ATR	NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp)	SNV	Uncertain significance	157985	rs148064542	GRCh37: 3:142238542-142238542 GRCh38: 3:142519700-142519700
15	ATR	NM_001184.4(ATR):c.5572T>C (p.Cys1858Arg)	SNV	Uncertain significance	343600	rs367898142	GRCh37: 3:142216021-142216021 GRCh38: 3:142497179-142497179
16	ATR	NM_001184.4(ATR):c.2226T>C (p.Cys742=)	SNV	Uncertain significance	343616	rs147895945	GRCh37: 3:142274834-142274834 GRCh38: 3:142555992-142555992
17	ATR	NM_001184.4(ATR):c.6226C>G (p.Leu2076Val)	SNV	Uncertain significance	343587	rs372864251	GRCh37: 3:142189021-142189021 GRCh38: 3:142470179-142470179
18	ATR	NM_001184.4(ATR):c.7349+2T>C	SNV	Uncertain significance	805997		GRCh37: 3:142178067-142178067 GRCh38: 3:142459225-142459225
19	ATR	NM_001184.4(ATR):c.6023G>A (p.Arg2008Gln)	SNV	Uncertain significance	901057		GRCh37: 3:142212029-142212029 GRCh38: 3:142493187-142493187
20	ATR	NM_001184.4(ATR):c.1439G>T (p.Ser480Ile)	SNV	Uncertain significance	901183		GRCh37: 3:142279207-142279207 GRCh38: 3:142560365-142560365
21	ATR	NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu)	SNV	Uncertain significance	158001	rs587783338	GRCh37: 3:142184019-142184019 GRCh38: 3:142465177-142465177
22	ATR	NM_001184.4(ATR):c.59+4G>A	SNV	Uncertain significance	343630	rs758046042	GRCh37: 3:142297484-142297484 GRCh38: 3:142578642-142578642
23	ATR	NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala)	SNV	Uncertain significance	425314	rs201492267	GRCh37: 3:142231108-142231108 GRCh38: 3:142512266-142512266
24	ATR	NM_001184.4(ATR):c.7864T>C (p.Tyr2622His)	SNV	Uncertain significance	899824		GRCh37: 3:142168342-142168342 GRCh38: 3:142449500-142449500
25	ATR	NM_001184.4(ATR):c.4592A>G (p.His1531Arg)	SNV	Uncertain significance	903547		GRCh37: 3:142232392-142232392 GRCh38: 3:142513550-142513550
26	ATR	NM_001184.4(ATR):c.1350-3T>C	SNV	Uncertain significance	157964	rs587783323	GRCh37: 3:142279299-142279299 GRCh38: 3:142560457-142560457
27	ATR	NM_001184.4(ATR):c.2653G>A (p.Val885Ile)	SNV	Uncertain significance	343613	rs141606250	GRCh37: 3:142272221-142272221 GRCh38: 3:142553379-142553379
28	ATR	NM_001184.4(ATR):c.1318C>T (p.Pro440Ser)	SNV	Uncertain significance	343619	rs535140939	GRCh37: 3:142280116-142280116 GRCh38: 3:142561274-142561274
29	ATR	NM_001184.4(ATR):c.4490A>G (p.Tyr1497Cys)	SNV	Uncertain significance	903548		GRCh37: 3:142234250-142234250 GRCh38: 3:142515408-142515408
30	ATR	NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly)	SNV	Uncertain significance	157977	rs149008479	GRCh37: 3:142261533-142261533 GRCh38: 3:142542691-142542691
31	ATR	NM_001184.4(ATR):c.7817G>A (p.Arg2606Gln)	SNV	Uncertain significance	899825		GRCh37: 3:142168389-142168389 GRCh38: 3:142449547-142449547
32	ATR	NM_001184.4(ATR):c.1904G>A (p.Arg635Gln)	SNV	Uncertain significance	900024		GRCh37: 3:142275399-142275399 GRCh38: 3:142556557-142556557
33	CENPJ	NM_018451.5(CENPJ):c.419A>C (p.Asp140Ala)	SNV	Uncertain significance	311632	rs201531824	GRCh37: 13:25486745-25486745 GRCh38: 13:24912607-24912607
34	ATR	NM_001184.4(ATR):c.2776T>C (p.Phe926Leu)	SNV	Uncertain significance	343612	rs141783863	GRCh37: 3:142272098-142272098 GRCh38: 3:142553256-142553256
35	ATR	NM_001184.4(ATR):c.3241C>T (p.Leu1081=)	SNV	Uncertain significance	343611	rs139173669	GRCh37: 3:142266683-142266683 GRCh38: 3:142547841-142547841
36	ATR	NM_001184.4(ATR):c.3945+2dup	Duplication	Uncertain significance	343608	rs537031994	GRCh37: 3:142253919-142253920 GRCh38: 3:142535077-142535078
37	ATR	NM_001184.4(ATR):c.3642T>C (p.His1214=)	SNV	Uncertain significance	343609	rs139078985	GRCh37: 3:142257407-142257407 GRCh38: 3:142538565-142538565
38	ATR	NM_001184.4(ATR):c.-29_-9delinsT	Indel	Uncertain significance	343631	rs1577732214	GRCh37: 3:142297555-142297575 GRCh38: 3:142578713-142578733
39	CENPJ	NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met)	SNV	Uncertain significance	30783	rs144938364	GRCh37: 13:25479714-25479714 GRCh38: 13:24905576-24905576
40	ATR	NM_001184.4(ATR):c.7408A>G (p.Ile2470Val)	SNV	Uncertain significance	931291		GRCh37: 3:142177895-142177895 GRCh38: 3:142459053-142459053
41	ATR	NM_001184.4(ATR):c.7399G>A (p.Val2467Ile)	SNV	Uncertain significance	931877		GRCh37: 3:142177904-142177904 GRCh38: 3:142459062-142459062
42	ATR	NM_001184.4(ATR):c.1411G>C (p.Glu471Gln)	SNV	Uncertain significance	800229	rs371350410	GRCh37: 3:142279235-142279235 GRCh38: 3:142560393-142560393
43	ATR	NM_001184.4(ATR):c.4153-21dup	Duplication	Uncertain significance	195738	rs112116713	GRCh37: 3:142241692-142241693 GRCh38: 3:142522850-142522851
44	ATR	NM_001184.4(ATR):c.6675G>T (p.Leu2225Phe)	SNV	Uncertain significance	989275		GRCh37: 3:142186788-142186788 GRCh38: 3:142467946-142467946
45	ATR	NM_001184.4(ATR):c.4677C>T (p.Asp1559=)	SNV	Uncertain significance	210489	rs112726878	GRCh37: 3:142231277-142231277 GRCh38: 3:142512435-142512435
46	ATR	NM_001184.4(ATR):c.6595A>G (p.Asn2199Asp)	SNV	Uncertain significance	901548		GRCh37: 3:142186868-142186868 GRCh38: 3:142468026-142468026
47	ATR	NM_001184.4(ATR):c.5286C>G (p.Asn1762Lys)	SNV	Uncertain significance	901605		GRCh37: 3:142222206-142222206 GRCh38: 3:142503364-142503364
48	ATR	NM_001184.4(ATR):c.6G>T (p.Gly2=)	SNV	Uncertain significance	900094		GRCh37: 3:142297541-142297541 GRCh38: 3:142578699-142578699
49	ATR	NM_001184.4(ATR):c.7041+8G>A	SNV	Uncertain significance	434449	rs201106004	GRCh37: 3:142183931-142183931 GRCh38: 3:142465089-142465089
50	ATR	NM_001184.4(ATR):c.5971C>A (p.Pro1991Thr)	SNV	Uncertain significance	901058		GRCh37: 3:142212081-142212081 GRCh38: 3:142493239-142493239

Sources

Expression for Seckel Syndrome 1

Search GEO for disease gene expression data for Seckel Syndrome 1.

Sources

Pathways for Seckel Syndrome 1

Pathways related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	DNA Double-Strand Break Repair ⁶⁵ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁵ DNA damage_DNA-damage-induced responses ²³ DNA Repair ⁶⁵ G2/M DNA damage checkpoint ⁶⁵ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁵ HDR through MMEJ (alt-NHEJ) ⁶⁵ Homology Directed Repair ⁶⁵ Non-homologous end joining ¹ Non-homologous end-joining ³⁶ Processing of DNA double-strand break ends ⁶⁵	12.66	RFC2 RBBP8 NHEJ1 MNAT1 ATR
2	Cell Cycle, Mitotic ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	12.33	RFC2 RBBP8 PCNT MNAT1 CEP152 CENPJ
3	Regulation of TP53 Activity ⁶⁵ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁵ Regulation of TP53 Activity through Methylation ⁶⁵ Regulation of TP53 Activity through Phosphorylation ⁶⁵ Transcriptional Regulation by TP53 ⁶⁵	12.17	RFC2 RBBP8 MNAT1 CENPJ ATR
4	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	RFC2 RBBP8 ATR
5	ATM Signaling Network in Development and Disease ¹	11.03	RBBP8 ATR
6	BARD1 signaling events ¹	10.62	RBBP8 ATR

Sources

GO Terms for Seckel Syndrome 1

Cellular components related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleoplasm	GO:0005654	9.76	RFC2 RBBP8 NHEJ1 MNAT1 CNTLN CEP152
2	centrosome	GO:0005813	9.26	PCNT CNTLN CEP152 CENPJ
3	centriole	GO:0005814	8.92	PCNT CNTLN CEP152 CENPJ

Biological processes related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA replication	GO:0006260	9.58	RFC2 RBBP8 ATR
2	regulation of signal transduction by p53 class mediator	GO:1901796	9.5	RFC2 RBBP8 ATR
3	ciliary basal body-plasma membrane docking	GO:0097711	9.43	PCNT CEP152 CENPJ
4	centriole replication	GO:0007099	9.37	CEP152 CENPJ
5	DNA repair	GO:0006281	9.35	RFC2 RBBP8 NHEJ1 MNAT1 ATR
6	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.33	PCNT CEP152 CENPJ
7	G2/M transition of mitotic cell cycle	GO:0000086	8.92	PCNT MNAT1 CEP152 CENPJ

Sources

Sources for Seckel Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Seckel Syndrome 1 (SCKL1)

Aliases & Classifications for Seckel Syndrome 1

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Cellular components related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

Biological processes related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

Sources for Seckel Syndrome 1