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

SCKL1 MCID: SCK009 MIFTS: 47	Seckel Syndrome 1 (SCKL1) Categories: Bone 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 ⁷⁵ ²⁹ ¹³ ⁶ ¹⁵

Microcephalic Primordial Dwarfism I ⁵⁷ ¹² ⁷⁵

Sckl1 ⁵⁷ ¹² ⁷⁵

Nanocephalic Dwarfism ⁵⁷ ⁷⁵

Seckel-Type Dwarfism ⁵⁷ ⁷⁵

Bird-Headed Dwarfism ⁵⁷ ⁷⁵

Seckel Syndrome, Type 1 ⁴⁰

Seckel Syndrome ⁷³

Sckl ⁵⁷

Characteristics:

OMIM:

⁵⁷

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:

³²

seckel syndrome 1:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 210600

Disease Ontology ¹² DOID:0070007

MedGen ⁴² C0265202

MeSH ⁴⁴ D004392 D008831

SNOMED-CT via HPO ⁶⁹ 258211005 204878001 204888000 more

UMLS ⁷³ C0265202

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Summaries for Seckel Syndrome 1

UniProtKB/Swiss-Prot : ⁷⁵ 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 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 Gene Expression and DNA Double-Strand Break Repair. Affiliated tissues include bone and eye, and related phenotypes are low-set ears and high palate

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)

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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 24)

#	Related Disease	Score	Top Affiliating Genes
1	seckel syndrome	31.2	ATR CENPJ CEP152 RBBP8
2	seckel syndrome 2	30.9	ATR CENPJ CEP152 MNAT1 RBBP8
3	microcephaly	29.7	ATR CENPJ CEP152 RBBP8
4	microcephalic primordial dwarfism, montreal type	12.0
5	bangstad syndrome	11.6
6	seckel like syndrome majoor-krakauer type	11.5
7	seckel syndrome 8	11.1
8	isolated growth hormone deficiency, type ia	10.3
9	dwarfism	10.3
10	seckel syndrome 5	10.1	CENPJ CEP152
11	microcephaly 3, primary, autosomal recessive	10.1	CENPJ CEP152
12	microcephaly 17, primary, autosomal recessive	10.0	CENPJ CEP152
13	microcephaly 6, primary, autosomal recessive	10.0	CENPJ CEP152
14	microcephaly 4, primary, autosomal recessive	10.0	CENPJ CEP152
15	microcephaly 12, primary, autosomal recessive	10.0	CENPJ CEP152
16	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	10.0	CENPJ CEP152
17	meier-gorlin syndrome 1	10.0	ATR CEP152
18	microcephaly 5, primary, autosomal recessive	10.0	CENPJ CEP152
19	microcephaly 7, primary, autosomal recessive	10.0	CENPJ CEP152
20	primary autosomal recessive microcephaly	10.0	CENPJ CEP152
21	microcephaly 18, primary, autosomal dominant	10.0	CENPJ CEP152
22	congenital nervous system abnormality	9.9	CENPJ CEP152
23	primary microcephaly	9.9	CENPJ CEP152
24	ataxia-telangiectasia	9.8	ATR CHEK1

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

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Symptoms & Phenotypes for Seckel Syndrome 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

Head And Neck Face:
micrognathia
facial asymmetry
sloping forehead

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

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

Genitourinary External Genitalia Male:
hypospadias

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Genitourinary External Genitalia Female:
clitoromegaly

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 Mouth:
cleft palate
high-arched palate

Hematology:
pancytopenia
increased sister chromatid exchange

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Pelvis:
hip dislocation

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

Head And Neck Nose:
prominent nose
beaked nose

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

Human phenotypes related to Seckel Syndrome 1:

³² (show all 48)

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

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	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.46	ATR CHEK1 MNAT1 RBBP8
2	Decreased telomerase activity	GR00156-A	9.37	ATR CHEK1
3	Decreased viability after gemcitabine stimulation	GR00107-A-2	9.32	ATR CHEK1
4	Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor	GR00114-A	9.26	ATR CHEK1
5	Synthetic lethal with cisplatin	GR00101-A-1	8.96	ATR CHEK1
6	Synthetic lethal with gemcitabine	GR00101-A-2	8.8	CHEK1
7	Synthetic lethal with gemcitabine	GR00225-A	8.8	ATR CHEK1

MGI Mouse Phenotypes related to Seckel Syndrome 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	embryo	MP:0005380	9.1	ATR CENPJ CEP152 CHEK1 MNAT1 RBBP8

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Drugs & Therapeutics for Seckel Syndrome 1

Search Clinical Trials , 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:

⁴¹

Bone, Eye

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Publications for Seckel Syndrome 1

Articles related to Seckel Syndrome 1:

#	Title	Authors	Year
1	Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. ( 7046443 )	Majewski F....Goecke T.	1982

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Genes for Seckel Syndrome 1

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATR	ATR Serine/Threonine Kinase	Protein Coding	1044.26	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)	23111928 20301772 23144622 (more) 10691732 11721054 12640452
2	CEP152	Centrosomal Protein 152	Protein Coding	17.11	DISEASES inferred ¹⁵
3	MNAT1	MNAT1, CDK Activating Kinase Assembly Factor	Protein Coding	16.55	DISEASES inferred ¹⁵
4	CENPJ	Centromere Protein J	Protein Coding	16.42	DISEASES inferred ¹⁵
5	RBBP8	RB Binding Protein 8, Endonuclease	Protein Coding	15.89	DISEASES inferred ¹⁵
6	APEH	Acylaminoacyl-Peptide Hydrolase	Protein Coding	5.52	DISEASES inferred ¹⁵
7	CHEK1	Checkpoint Kinase 1	Protein Coding	4.56	DISEASES inferred ¹⁵

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Variations for Seckel Syndrome 1

ClinVar genetic disease variations for Seckel Syndrome 1:

⁶ (show all 42)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ATR	NM_001184.3(ATR): c.2022A> G (p.Gly674=)	single nucleotide variant	Pathogenic	rs587776690	GRCh37	Chromosome 3, 142275281: 142275281
2	ATR	NM_001184.3(ATR): c.2022A> G (p.Gly674=)	single nucleotide variant	Pathogenic	rs587776690	GRCh38	Chromosome 3, 142556439: 142556439
3	ATR	NM_001184.3(ATR): c.5635G> T (p.Asp1879Tyr)	single nucleotide variant	Pathogenic	rs387907327	GRCh37	Chromosome 3, 142215958: 142215958
4	ATR	NM_001184.3(ATR): c.5635G> T (p.Asp1879Tyr)	single nucleotide variant	Pathogenic	rs387907327	GRCh38	Chromosome 3, 142497116: 142497116
5	ATR	NM_001184.3(ATR): c.3477G> T (p.Met1159Ile)	single nucleotide variant	Pathogenic	rs587777851	GRCh38	Chromosome 3, 142541008: 142541008
6	ATR	NM_001184.3(ATR): c.3477G> T (p.Met1159Ile)	single nucleotide variant	Pathogenic	rs587777851	GRCh37	Chromosome 3, 142259850: 142259850
7	ATR	NM_001184.3(ATR): c.6897+464C> G	single nucleotide variant	Pathogenic	rs587777852	GRCh38	Chromosome 3, 142465860: 142465860
8	ATR	NM_001184.3(ATR): c.6897+464C> G	single nucleotide variant	Pathogenic	rs587777852	GRCh37	Chromosome 3, 142184702: 142184702
9	ATR	NM_001184.3(ATR): c.1350-3T> C	single nucleotide variant	Uncertain significance	rs587783323	GRCh37	Chromosome 3, 142279299: 142279299
10	ATR	NM_001184.3(ATR): c.1350-3T> C	single nucleotide variant	Uncertain significance	rs587783323	GRCh38	Chromosome 3, 142560457: 142560457
11	ATR	NM_001184.3(ATR): c.2290A> G (p.Lys764Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs77208665	GRCh37	Chromosome 3, 142274770: 142274770
12	ATR	NM_001184.3(ATR): c.2290A> G (p.Lys764Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs77208665	GRCh38	Chromosome 3, 142555928: 142555928
13	ATR	NM_001184.3(ATR): c.2688G> A (p.Leu896=)	single nucleotide variant	Uncertain significance	rs117926957	GRCh37	Chromosome 3, 142272186: 142272186
14	ATR	NM_001184.3(ATR): c.2688G> A (p.Leu896=)	single nucleotide variant	Uncertain significance	rs117926957	GRCh38	Chromosome 3, 142553344: 142553344
15	ATR	NM_001184.3(ATR): c.3424A> G (p.Ser1142Gly)	single nucleotide variant	Uncertain significance	rs149008479	GRCh37	Chromosome 3, 142261533: 142261533
16	ATR	NM_001184.3(ATR): c.3424A> G (p.Ser1142Gly)	single nucleotide variant	Uncertain significance	rs149008479	GRCh38	Chromosome 3, 142542691: 142542691
17	ATR	NM_001184.3(ATR): c.3799G> A (p.Val1267Ile)	single nucleotide variant	Uncertain significance	rs377689383	GRCh37	Chromosome 3, 142254970: 142254970
18	ATR	NM_001184.3(ATR): c.3799G> A (p.Val1267Ile)	single nucleotide variant	Uncertain significance	rs377689383	GRCh38	Chromosome 3, 142536128: 142536128
19	ATR	NM_001184.3(ATR): c.4306A> G (p.Asn1436Asp)	single nucleotide variant	Uncertain significance	rs587783328	GRCh37	Chromosome 3, 142238587: 142238587
20	ATR	NM_001184.3(ATR): c.4306A> G (p.Asn1436Asp)	single nucleotide variant	Uncertain significance	rs587783328	GRCh38	Chromosome 3, 142519745: 142519745
21	ATR	NM_001184.3(ATR): c.4351C> T (p.Arg1451Trp)	single nucleotide variant	Uncertain significance	rs148064542	GRCh37	Chromosome 3, 142238542: 142238542
22	ATR	NM_001184.3(ATR): c.4351C> T (p.Arg1451Trp)	single nucleotide variant	Uncertain significance	rs148064542	GRCh38	Chromosome 3, 142519700: 142519700
23	ATR	NM_001184.3(ATR): c.4641+15C> T	single nucleotide variant	Uncertain significance	rs200619976	GRCh37	Chromosome 3, 142232328: 142232328
24	ATR	NM_001184.3(ATR): c.4641+15C> T	single nucleotide variant	Uncertain significance	rs200619976	GRCh38	Chromosome 3, 142513486: 142513486
25	ATR	NM_001184.3(ATR): c.5732A> G (p.Asn1911Ser)	single nucleotide variant	Uncertain significance	rs587783334	GRCh37	Chromosome 3, 142215861: 142215861
26	ATR	NM_001184.3(ATR): c.5732A> G (p.Asn1911Ser)	single nucleotide variant	Uncertain significance	rs587783334	GRCh38	Chromosome 3, 142497019: 142497019
27	ATR	NM_001184.3(ATR): c.5739-14G> T	single nucleotide variant	Uncertain significance	rs587783335	GRCh37	Chromosome 3, 142215376: 142215376
28	ATR	NM_001184.3(ATR): c.5739-14G> T	single nucleotide variant	Uncertain significance	rs587783335	GRCh38	Chromosome 3, 142496534: 142496534
29	ATR	NM_001184.3(ATR): c.6961T> C (p.Phe2321Leu)	single nucleotide variant	Uncertain significance	rs587783338	GRCh37	Chromosome 3, 142184019: 142184019
30	ATR	NM_001184.3(ATR): c.6961T> C (p.Phe2321Leu)	single nucleotide variant	Uncertain significance	rs587783338	GRCh38	Chromosome 3, 142465177: 142465177
31	ATR	NM_001184.3(ATR): c.7041+4G> C	single nucleotide variant	Uncertain significance	rs113544835	GRCh37	Chromosome 3, 142183935: 142183935
32	ATR	NM_001184.3(ATR): c.7041+4G> C	single nucleotide variant	Uncertain significance	rs113544835	GRCh38	Chromosome 3, 142465093: 142465093
33	ATR	NM_001184.3(ATR): c.7725G> A (p.Ala2575=)	single nucleotide variant	Uncertain significance	rs587783340	GRCh37	Chromosome 3, 142172006: 142172006
34	ATR	NM_001184.3(ATR): c.7725G> A (p.Ala2575=)	single nucleotide variant	Uncertain significance	rs587783340	GRCh38	Chromosome 3, 142453164: 142453164
35	ATR	NM_001184.3(ATR): c.4641+1G> T	single nucleotide variant	Pathogenic	rs797045403	GRCh37	Chromosome 3, 142232342: 142232342
36	ATR	NM_001184.3(ATR): c.4641+1G> T	single nucleotide variant	Pathogenic	rs797045403	GRCh38	Chromosome 3, 142513500: 142513500
37	ATR	NM_001184.3(ATR): c.5196+1G> A	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 3, 142505138: 142505138
38	ATR	NM_001184.3(ATR): c.5196+1G> A	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 3, 142223980: 142223980
39	ATR	NM_001184.3(ATR): c.4995G> T (p.Lys1665Asn)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 3, 142507967: 142507967
40	ATR	NM_001184.3(ATR): c.4995G> T (p.Lys1665Asn)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 3, 142226809: 142226809
41	ATR	NM_001184.3(ATR): c.151+4A> G	single nucleotide variant	Likely pathogenic	rs1481733213	GRCh38	Chromosome 3, 142568059: 142568059
42	ATR	NM_001184.3(ATR): c.151+4A> G	single nucleotide variant	Likely pathogenic	rs1481733213	GRCh37	Chromosome 3, 142286901: 142286901

Sources

Expression for Seckel Syndrome 1

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

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Pathways for Seckel Syndrome 1

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

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Gene Expression ⁶⁶ Show member pathways Generic Transcription Pathway ⁶⁶	13.28	APEH ATR CENPJ CHEK1 MNAT1 RBBP8
2	DNA Double-Strand Break Repair ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁶ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Homology Directed Repair ⁶⁶ Non-homologous end joining ¹ Non-homologous end-joining ³⁷ Processing of DNA double-strand break ends ⁶⁶	12.84	ATR CHEK1 MNAT1 RBBP8
3	Cell Cycle, Mitotic ⁶⁶ Show member pathways Cell Cycle ⁶⁶ M Phase ⁶⁶	12.59	ATR CENPJ CEP152 CHEK1 MNAT1 RBBP8
4	Regulation of TP53 Activity ⁶⁶ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁶ Regulation of TP53 Activity through Methylation ⁶⁶ Regulation of TP53 Activity through Phosphorylation ⁶⁶ Transcriptional Regulation by TP53 ⁶⁶	12.37	ATR CENPJ CHEK1 MNAT1 RBBP8
5	Cell Cycle Checkpoints ⁶⁶ Show member pathways G2/M Checkpoints ⁶⁶	12.29	ATR CHEK1 RBBP8
6	DNA Damage ⁴	12.12	ATR CHEK1 RBBP8
7	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	11.88	ATR CHEK1 RBBP8
8	BRCA1 Pathway ⁶⁴ Show member pathways Fanconi's Anaemia Pathway ⁶⁴	11.35	ATR CHEK1 RBBP8
9	p53 pathway ¹	11.33	ATR CHEK1
10	Integrated Cancer Pathway ¹	11.19	ATR CHEK1
11	Cell cycle Role of 14-3-3 proteins in cell cycle regulation ²² Show member pathways 14-3-3 and Cell Cycle Regulation ⁶⁴	11.16	ATR CHEK1
12	DNA damage_ATM/ATR regulation of G1/S checkpoint ²²	11.14	ATR CHEK1
13	BARD1 signaling events ¹	10.92	ATR RBBP8
14	Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹	10.79	ATR CHEK1
15	Circadian rhythm pathway ¹	10.47	ATR CHEK1
16	ATM Signaling Network in Development and Disease ¹	10.46	ATR CHEK1 RBBP8

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	centrosome	GO:0005813	9.33	CENPJ CEP152 CHEK1
2	microtubule organizing center	GO:0005815	9.13	CENPJ CEP152 CHEK1
3	nucleoplasm	GO:0005654	9.1	ATR CENPJ CEP152 CHEK1 MNAT1 RBBP8

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to DNA damage stimulus	GO:0006974	9.67	ATR CHEK1 RBBP8
2	ciliary basal body-plasma membrane docking	GO:0097711	9.52	CENPJ CEP152
3	G1/S transition of mitotic cell cycle	GO:0000082	9.51	MNAT1 RBBP8
4	DNA replication	GO:0006260	9.5	ATR CHEK1 RBBP8
5	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.48	CENPJ CEP152
6	nucleotide-excision repair	GO:0006289	9.46	MNAT1 RBBP8
7	negative regulation of G0 to G1 transition	GO:0070317	9.43	CHEK1 RBBP8
8	DNA damage checkpoint	GO:0000077	9.4	ATR CHEK1
9	centriole replication	GO:0007099	9.37	CENPJ CEP152
10	centrosome duplication	GO:0051298	9.26	CENPJ CEP152
11	replicative senescence	GO:0090399	9.16	ATR CHEK1
12	G2/M transition of mitotic cell cycle	GO:0000086	9.13	CENPJ CEP152 CHEK1
13	DNA repair	GO:0006281	8.92	ATR CHEK1 MNAT1 RBBP8

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

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Seckel Syndrome 1 (SCKL1)

Aliases & Classifications for Seckel Syndrome 1

MalaCards integrated aliases for Seckel Syndrome 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Seckel Syndrome 1

Related Diseases for Seckel Syndrome 1

Diseases in the Seckel Syndrome family:

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

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

Symptoms & Phenotypes for Seckel Syndrome 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Seckel Syndrome 1:

UMLS symptoms related to Seckel Syndrome 1:

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

MGI Mouse Phenotypes related to Seckel Syndrome 1:

Drugs & Therapeutics for Seckel Syndrome 1

Genetic Tests for Seckel Syndrome 1

Genetic tests related to Seckel Syndrome 1:

Anatomical Context for Seckel Syndrome 1

MalaCards organs/tissues related to Seckel Syndrome 1:

Publications for Seckel Syndrome 1

Articles related to Seckel Syndrome 1:

Genes for Seckel Syndrome 1

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

Variations for Seckel Syndrome 1

ClinVar genetic disease variations for Seckel Syndrome 1:

Expression for Seckel Syndrome 1

Pathways for Seckel Syndrome 1

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

GO Terms for Seckel Syndrome 1

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