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

MCID: SCK009 MIFTS: 30	Seckel Syndrome 1 Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Bone diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download 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

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

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 2 and seckel syndrome 8, and has symptoms including seizures An important gene associated with Seckel Syndrome 1 is ATR (ATR Serine/Threonine Kinase). Affiliated tissues include bone and eye, and related phenotypes are low-set ears and high palate

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)

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

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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:

#	Related Disease	Score
1	seckel syndrome 2	10.9
2	seckel syndrome 8	10.9
3	seckel syndrome	10.9

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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 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

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

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

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	abnormality of the pinna ³²	HP:0000377
18	hip dislocation ³²	HP:0002827
19	hypospadias ³²	HP:0000047
20	clinodactyly of the 5th finger ³²	HP:0004209
21	dental crowding ³²	HP:0000678
22	downslanted palpebral fissures ³²	HP:0000494
23	sandal gap ³²	HP:0001852
24	blepharophimosis ³²	HP:0000581
25	convex nasal ridge ³²	HP:0000444
26	facial asymmetry ³²	HP:0000324
27	pachygyria ³²	HP:0001302
28	sloping forehead ³²	HP:0000340
29	talipes ³²	HP:0001883
30	hyperactivity ³²	HP:0000752
31	prominent nose ³²	HP:0000448
32	single transverse palmar crease ³²	HP:0000954
33	cerebellar vermis hypoplasia ³²	HP:0001320
34	cone-shaped epiphyses of the phalanges of the hand ³²	HP:0010230
35	11 pairs of ribs ³²	HP:0000878
36	dislocated radial head ³²	HP:0003083
37	hypoplasia of dental enamel ³²	HP:0006297
38	selective tooth agenesis ³²	HP:0001592
39	proportionate short stature ³²	HP:0003508
40	clitoral hypertrophy ³²	HP:0008665
41	abnormal finger flexion creases ³²	HP:0006143
42	small anterior fontanelle ³²	HP:0000237
43	elbow flexion contracture ³²	HP:0002987
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

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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	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:

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	1038.35	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	10691732 11721054 12640452 (more) 20301772 23111928 23144622

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Variations for Seckel Syndrome 1

ClinVar genetic disease variations for Seckel Syndrome 1:

⁶

(show all 38)

#	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

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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

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GO Terms for Seckel Syndrome 1

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Sources for Seckel Syndrome 1

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