MCID: SCK009
MIFTS: 30

Seckel Syndrome 1

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Bone diseases

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:



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.

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 Top Affiliating Genes
1 seckel syndrome 2 10.9
2 seckel syndrome 8 10.9
3 seckel syndrome 10.9

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 Frequency 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

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

Genetic Tests for Seckel Syndrome 1

Genetic tests related to Seckel Syndrome 1:

# Genetic test Affiliating Genes
1 Seckel Syndrome 1 29 ATR

Anatomical Context for Seckel Syndrome 1

MalaCards organs/tissues related to Seckel Syndrome 1:

41
Bone, Eye

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 )
1982

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

Expression for Seckel Syndrome 1

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

Pathways for Seckel Syndrome 1

GO Terms for Seckel Syndrome 1

Sources for Seckel Syndrome 1

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