LAMSHF
MCID: LMB069
MIFTS: 27

Lamb-Shaffer Syndrome (LAMSHF)

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

Aliases & Classifications for Lamb-Shaffer Syndrome

MalaCards integrated aliases for Lamb-Shaffer Syndrome:

Name: Lamb-Shaffer Syndrome 58 60 76 38 30 6
Lamshf 58 76
Developmental and Speech Delay Due to Sox5 Deficiency 60
Sox5 Haploinsufficiency Syndrome 60
12p12.1 Microdeletion Syndrome 60
Syndrome, Lamb-Shaffer 41
Monosomy 12p12.1 60
Del(12)(p12.1) 60

Characteristics:

Orphanet epidemiological data:

60
developmental and speech delay due to sox5 deficiency
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
12p12.1 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

33
lamb-shaffer syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Lamb-Shaffer Syndrome

OMIM : 58 Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015). (616803)

MalaCards based summary : Lamb-Shaffer Syndrome, is also known as lamshf. An important gene associated with Lamb-Shaffer Syndrome is SOX5 (SRY-Box 5). Affiliated tissues include brain, tongue and bone, and related phenotypes are intellectual disability and motor delay

UniProtKB/Swiss-Prot : 76 Lamb-Shaffer syndrome: An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present.

Wikipedia : 77 Lamb-Shaffer syndrome is a rare autosomal dominant condition. Less than 40 cases have been reported by... more...

Related Diseases for Lamb-Shaffer Syndrome

Symptoms & Phenotypes for Lamb-Shaffer Syndrome

Human phenotypes related to Lamb-Shaffer Syndrome:

60 33 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 obligate (100%) Obligate (100%) HP:0001249
2 motor delay 60 33 obligate (100%) Obligate (100%) HP:0001270
3 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
4 hyperplasia of the maxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0430028
5 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
6 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
7 narrow palate 60 33 frequent (33%) Frequent (79-30%) HP:0000189
8 pectus carinatum 60 33 frequent (33%) Frequent (79-30%) HP:0000768
9 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
10 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
11 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
12 dental crowding 60 33 frequent (33%) Frequent (79-30%) HP:0000678
13 vertebral fusion 60 33 frequent (33%) Frequent (79-30%) HP:0002948
14 2-3 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0004691
15 lumbar hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0002938
16 abnormality of brain morphology 60 33 frequent (33%) Frequent (79-30%) HP:0012443
17 exotropia 60 33 frequent (33%) Frequent (79-30%) HP:0000577
18 thoracic kyphoscoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0005659
19 exaggerated median tongue furrow 60 33 frequent (33%) Frequent (79-30%) HP:0002711
20 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
21 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
22 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
23 stereotypy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000733
24 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
25 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
26 mitral regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001653
27 aggressive behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000718
28 abnormality of the genital system 60 33 occasional (7.5%) Occasional (29-5%) HP:0000078
29 butterfly vertebrae 60 33 occasional (7.5%) Occasional (29-5%) HP:0003316
30 pes planus 33 occasional (7.5%) HP:0001763
31 long fingers 33 occasional (7.5%) HP:0100807
32 long hallux 33 occasional (7.5%) HP:0001847
33 vertebral clefting 33 occasional (7.5%) HP:0008428
34 overlapping toe 33 occasional (7.5%) HP:0001845
35 scoliosis 60 33 Occasional (29-5%) HP:0002650
36 strabismus 60 33 Frequent (79-30%) HP:0000486
37 low-set ears 33 HP:0000369
38 clinodactyly 33 HP:0030084
39 global developmental delay 33 HP:0001263
40 depressed nasal bridge 33 HP:0005280
41 wide nasal bridge 33 HP:0000431
42 epicanthus 33 HP:0000286
43 downslanted palpebral fissures 33 HP:0000494
44 open mouth 33 HP:0000194
45 bulbous nose 33 HP:0000414
46 facial asymmetry 33 HP:0000324
47 generalized hypotonia 33 HP:0001290
48 posteriorly rotated ears 33 HP:0000358

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Hands:
clinodactyly
long fingers (in some patients)

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge
bulbous nasal tip

Head And Neck Mouth:
open mouth

Skeletal Spine:
scoliosis (in some patients)
vertebral clefts (in some patients)

Skeletal Feet:
flat feet (in some patients)
long halluces (in some patients)
overlapping toes (in some patients)

Head And Neck Face:
frontal bossing
facial asymmetry

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
poor speech development

Head And Neck Eyes:
strabismus
myopia
downslanting palpebral fissures
epicanthal folds

Muscle Soft Tissue:
hypotonia

Head And Neck Teeth:
crowded teeth

Neurologic Behavioral Psychiatric Manifestations:
stereotypic features

Clinical features from OMIM:

616803

Drugs & Therapeutics for Lamb-Shaffer Syndrome

Search Clinical Trials , NIH Clinical Center for Lamb-Shaffer Syndrome

Genetic Tests for Lamb-Shaffer Syndrome

Genetic tests related to Lamb-Shaffer Syndrome:

# Genetic test Affiliating Genes
1 Lamb-Shaffer Syndrome 30 SOX5

Anatomical Context for Lamb-Shaffer Syndrome

MalaCards organs/tissues related to Lamb-Shaffer Syndrome:

42
Brain, Tongue, Bone

Publications for Lamb-Shaffer Syndrome

Articles related to Lamb-Shaffer Syndrome:

# Title Authors Year
1
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders. ( 26111154 )
2015
2
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability. ( 23220431 )
2013
3
Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. ( 23498568 )
2013
4
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. ( 22290657 )
2012

Variations for Lamb-Shaffer Syndrome

ClinVar genetic disease variations for Lamb-Shaffer Syndrome:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX5 NC_000012.12: g.23484745_23564581del deletion Pathogenic GRCh38 Chromosome 12, 23484745: 23564581
2 SOX5 NC_000012.12: g.23484745_23564581del deletion Pathogenic GRCh37 Chromosome 12, 23637679: 23717515
3 SOX5 NC_000012.12: g.23488792_23626279del deletion Pathogenic GRCh38 Chromosome 12, 23488792: 23626279
4 SOX5 NC_000012.12: g.23488792_23626279del deletion Pathogenic GRCh37 Chromosome 12, 23641726: 23779213
5 SOX5 NC_000012.12: g.23771866_23888764del deletion Pathogenic GRCh38 Chromosome 12, 23771866: 23888764
6 SOX5 NC_000012.12: g.23771866_23888764del deletion Pathogenic GRCh37 Chromosome 12, 23924800: 24041698
7 SOX5 NC_000012.11: g.23979791_24033225del53435 deletion Pathogenic GRCh38 Chromosome 12, 23826857: 23880291
8 SOX5 NC_000012.11: g.23979791_24033225del53435 deletion Pathogenic GRCh37 Chromosome 12, 23979791: 24033225
9 SOX5 NM_152989.4(SOX5): c.1021G> T (p.Gly341Ter) single nucleotide variant Pathogenic rs869025321 GRCh37 Chromosome 12, 23757425: 23757425
10 SOX5 NM_152989.4(SOX5): c.1021G> T (p.Gly341Ter) single nucleotide variant Pathogenic rs869025321 GRCh38 Chromosome 12, 23604491: 23604491
11 SOX5 NM_006940.5(SOX5): c.1895C> A (p.Thr632Asn) single nucleotide variant Likely pathogenic rs1135401816 GRCh38 Chromosome 12, 23536546: 23536546
12 SOX5 NM_006940.5(SOX5): c.1895C> A (p.Thr632Asn) single nucleotide variant Likely pathogenic rs1135401816 GRCh37 Chromosome 12, 23689480: 23689480
13 SOX5 NM_006940.4(SOX5): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic/Likely pathogenic rs767241917 GRCh37 Chromosome 12, 23893905: 23893905
14 SOX5 NM_006940.4(SOX5): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic/Likely pathogenic rs767241917 GRCh38 Chromosome 12, 23740971: 23740971
15 SOX5 NM_152989.4(SOX5): c.583C> T (p.Gln195Ter) single nucleotide variant Pathogenic rs1555307370 GRCh37 Chromosome 12, 23893920: 23893920
16 SOX5 NM_152989.4(SOX5): c.583C> T (p.Gln195Ter) single nucleotide variant Pathogenic rs1555307370 GRCh38 Chromosome 12, 23740986: 23740986
17 SOX5 NM_006940.6(SOX5): c.1075G> A (p.Gly359Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 23604476: 23604476
18 SOX5 NM_006940.6(SOX5): c.1075G> A (p.Gly359Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 23757410: 23757410
19 SOX5 NM_006940.6(SOX5): c.1711C> T (p.Arg571Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 23543271: 23543271
20 SOX5 NM_006940.6(SOX5): c.1711C> T (p.Arg571Trp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 23696205: 23696205

Expression for Lamb-Shaffer Syndrome

Search GEO for disease gene expression data for Lamb-Shaffer Syndrome.

Pathways for Lamb-Shaffer Syndrome

GO Terms for Lamb-Shaffer Syndrome

Sources for Lamb-Shaffer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....