MCID: SCK009
MIFTS: 30

Seckel Syndrome 1

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

Aliases & Classifications for Seckel Syndrome 1

MalaCards integrated aliases for Seckel Syndrome 1:

Name: Seckel Syndrome 1 54 71 29 13
Sckl1 24 71
Microcephalic Primordial Dwarfism I 71
Seckel Syndrome Type 1 24
Nanocephalic Dwarfism 71
Bird-Headed Dwarfism 71
Seckel-Type Dwarfism 71
Seckel Syndrome 69

Characteristics:

OMIM:

54
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 : 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 sckl1, is related to seckel syndrome and microcephalic primordial dwarfism, montreal type, and has symptoms including scoliosis, strabismus and seizures. An important gene associated with Seckel Syndrome 1 is ATR (ATR Serine/Threonine Kinase). Affiliated tissues include eye and bone.

OMIM : 54
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 9 Seckel Syndrome 1
Seckel Syndrome 6 Seckel Syndrome 10
Seckel Syndrome 8 Seckel Syndrome 4
Seckel Syndrome 7 Seckel Syndrome 5
Seckel Syndrome 2

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

id Related Disease Score Top Affiliating Genes
1 seckel syndrome 12.0
2 microcephalic primordial dwarfism, montreal type 11.3
3 seckel syndrome 8 10.8
4 seckel syndrome 2 10.8

Symptoms & Phenotypes for Seckel Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate
cleft palate

Skeletal:
delayed bone age

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

Genitourinary- External Genitalia Male:
hypospadias

Head And Neck- Head:
small anterior fontanel
microcephaly, severe

Genitourinary- Internal Genitalia Male:
cryptorchidism

Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity

Head And Neck- Nose:
prominent nose
beaked nose

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

Growth- Height:
short stature, proportionate

Growth- Weight:
average birth weight 1540g

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

Skeletal- Spine:
scoliosis

Neurologic- Central Nervous System:
mental retardation
seizures
pachygyria
arachnoidal cysts
large basal ganglia
more
Head And Neck- Face:
micrognathia
sloping forehead
facial asymmetry

Skeletal- Pelvis:
hip dislocation

Genitourinary- External Genitalia Female:
clitoromegaly

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

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

Hematology:
pancytopenia
increased sister chromatid exchange

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

Chest- Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs

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

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


Clinical features from OMIM:

210600

Human phenotypes related to Seckel Syndrome 1:

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

UMLS symptoms related to Seckel Syndrome 1:


seizures

Drugs & Therapeutics for Seckel Syndrome 1

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Seckel Syndrome 1 29
2 Seckel Syndrome Type 1 24 ATR

Anatomical Context for Seckel Syndrome 1

MalaCards organs/tissues related to Seckel Syndrome 1:

39
Eye, Bone

Publications for Seckel Syndrome 1

Variations for Seckel Syndrome 1

ClinVar genetic disease variations for Seckel Syndrome 1:

6
id 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 GRCh38 Chromosome 3, 142505138: 142505138

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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