MCID: SCK009
MIFTS: 30

Seckel Syndrome 1

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

Aliases & Classifications for Seckel Syndrome 1

MalaCards integrated aliases for Seckel Syndrome 1:

Name: Seckel Syndrome 1 53 71 28 13
Microcephalic Primordial Dwarfism I 53 71
Nanocephalic Dwarfism 53 71
Seckel-Type Dwarfism 53 71
Bird-Headed Dwarfism 53 71
Sckl1 53 71
Seckel Syndrome 69
Sckl 53

Characteristics:

OMIM:

53
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:



Summaries for Seckel Syndrome 1

UniProtKB/Swiss-Prot : 71 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, low-set ears and high palate. An important gene associated with Seckel Syndrome 1 is ATR (ATR Serine/Threonine Kinase). Affiliated tissues include bone and eye.

OMIM : 53 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)

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:

53
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 RibsSternum 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

Genitourinary Internal Genitalia Male:
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:

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

Anatomical Context for Seckel Syndrome 1

MalaCards organs/tissues related to Seckel Syndrome 1:

38
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
# 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.5635G> T (p.Asp1879Tyr) single nucleotide variant Pathogenic rs387907327 GRCh37 Chromosome 3, 142215958: 142215958
3 ATR NM_001184.3(ATR): c.3477G> T (p.Met1159Ile) single nucleotide variant Pathogenic rs587777851 GRCh38 Chromosome 3, 142541008: 142541008
4 ATR NM_001184.3(ATR): c.6897+464C> G single nucleotide variant Pathogenic rs587777852 GRCh38 Chromosome 3, 142465860: 142465860
5 ATR NM_001184.3(ATR): c.4641+1G> T single nucleotide variant Pathogenic rs797045403 GRCh37 Chromosome 3, 142232342: 142232342
6 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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