MCID: SCK015
MIFTS: 24

Seckel Syndrome 2

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

Aliases & Classifications for Seckel Syndrome 2

MalaCards integrated aliases for Seckel Syndrome 2:

Name: Seckel Syndrome 2 57 12 75 29 13 6 73
Microcephalic Primordial Dwarfism 2 57 12 75
Seckel-Type Dwarfism 2 57 12 75
Sckl2 57 12 75
Seckel Syndrome, Type 2 40
Bird-Headed Dwarfism 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
seckel syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 2

OMIM : 57 Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). (606744)

MalaCards based summary : Seckel Syndrome 2, is also known as microcephalic primordial dwarfism 2. An important gene associated with Seckel Syndrome 2 is RBBP8 (RB Binding Protein 8, Endonuclease). Affiliated tissues include kidney, bone and heart, and related phenotypes are microcephaly and micrognathia

Disease Ontology : 12 A Seckel syndrome that has material basis in homozygous mutation in the RBBP8 gene on chromosome 18q11.

UniProtKB/Swiss-Prot : 75 Seckel syndrome 2: 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.

Related Diseases for Seckel Syndrome 2

Symptoms & Phenotypes for Seckel Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly
micrognathia

Head And Neck Eyes:
microphthalmia

Head And Neck Nose:
prominent nose

Cardiovascular Heart:
heart murmur

Voice:
high-pitched voice

Skin Nails Hair Skin:
cafe au lait spots

Growth Height:
proportionate short stature at birth

Genitourinary External Genitalia Male:
mild hypospadias

Skeletal Hands:
swelling over proximal part of middle phalanx of second, third, and fourth fingers
clinodactyly of fifth finger
absence of epiphyseal ossification centers of distal and middle phalangeal bones of fifth finger
synostosis of distal interphalangeal joint of fifth finger

Skeletal Skull:
microcephaly
short anterior cranial base
short maxillary length

Neurologic Central Nervous System:
mild global developmental delay
mild cerebellar hypoplasia
bilateral calcification of basal ganglia and cerebellum

Head And Neck Mouth:
microglossia

Head And Neck Teeth:
small teeth

Growth Weight:
low birth weight
underweight

Skeletal Limbs:
slender extremities

Growth Other:
persistent growth deficiency

Genitourinary Kidneys:
ectopic kidneys (rare)


Clinical features from OMIM:

606744

Human phenotypes related to Seckel Syndrome 2:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 micrognathia 32 HP:0000347
3 ectopic kidney 32 occasional (7.5%) HP:0000086
4 microdontia 32 HP:0000691
5 growth delay 32 HP:0001510
6 cerebellar hypoplasia 32 HP:0001321
7 microphthalmia 32 HP:0000568
8 hypospadias 32 HP:0000047
9 clinodactyly of the 5th finger 32 HP:0004209
10 high pitched voice 32 very rare (1%) HP:0001620
11 mild global developmental delay 32 HP:0011342
12 prominent nose 32 HP:0000448
13 small for gestational age 32 HP:0001518
14 microglossia 32 HP:0000171
15 heart murmur 32 HP:0030148
16 narrow forehead 32 HP:0000341
17 few cafe-au-lait spots 32 HP:0007429

Drugs & Therapeutics for Seckel Syndrome 2

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 2

Genetic Tests for Seckel Syndrome 2

Genetic tests related to Seckel Syndrome 2:

# Genetic test Affiliating Genes
1 Seckel Syndrome 2 29 RBBP8

Anatomical Context for Seckel Syndrome 2

MalaCards organs/tissues related to Seckel Syndrome 2:

41
Kidney, Bone, Heart, Cerebellum

Publications for Seckel Syndrome 2

Variations for Seckel Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 RBBP8 p.Arg100Trp VAR_075824 rs373804633

ClinVar genetic disease variations for Seckel Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RBBP8 NM_002894.2(RBBP8): c.2287+53T> G single nucleotide variant Pathogenic rs587776883 GRCh38 Chromosome 18, 23001782: 23001782
2 RBBP8 NM_002894.2(RBBP8): c.2287+53T> G single nucleotide variant Pathogenic rs587776883 GRCh37 Chromosome 18, 20581745: 20581745
3 RBBP8 NM_002894.2(RBBP8): c.298C> T (p.Arg100Trp) single nucleotide variant Pathogenic rs373804633 GRCh38 Chromosome 18, 22968855: 22968855
4 RBBP8 NM_002894.2(RBBP8): c.298C> T (p.Arg100Trp) single nucleotide variant Pathogenic rs373804633 GRCh37 Chromosome 18, 20548818: 20548818
5 RBBP8 NM_002894.2(RBBP8): c.604+1G> T single nucleotide variant Pathogenic rs587780432 GRCh38 Chromosome 18, 22982394: 22982394
6 RBBP8 NM_002894.2(RBBP8): c.604+1G> T single nucleotide variant Pathogenic rs587780432 GRCh37 Chromosome 18, 20562357: 20562357

Expression for Seckel Syndrome 2

Search GEO for disease gene expression data for Seckel Syndrome 2.

Pathways for Seckel Syndrome 2

GO Terms for Seckel Syndrome 2

Sources for Seckel Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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