LAMSHF
MCID: LMB069
MIFTS: 32

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 57 58 72 36 29 6
Lamshf 57 72
Developmental and Speech Delay Due to Sox5 Deficiency 58
Sox5 Haploinsufficiency Syndrome 58
12p12.1 Microdeletion Syndrome 58
Syndrome, Lamb-Shaffer 39
Monosomy 12p12.1 58
Del(12)(p12.1) 58

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

31
lamb-shaffer syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lamb-Shaffer Syndrome

KEGG : 36 Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, speech delay, and mild characteristic facial appearance. It is caused by haploinsufficiency of SOX5 at 12p12.1. SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system.

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

OMIM® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Lamb-Shaffer syndrome is a rare autosomal dominant condition. Less than 40 cases have been reported by... more...

Related Diseases for Lamb-Shaffer Syndrome

Diseases related to Lamb-Shaffer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.1

Symptoms & Phenotypes for Lamb-Shaffer Syndrome

Human phenotypes related to Lamb-Shaffer Syndrome:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0001249
2 motor delay 58 31 obligate (100%) Obligate (100%) HP:0001270
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000750
5 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
6 hyperplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0430028
7 delayed ability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0031936
8 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
9 narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0000189
10 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
11 optic atrophy 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000648
12 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
13 strabismus 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000486
14 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
15 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
16 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
17 vertebral fusion 58 31 frequent (33%) Frequent (79-30%) HP:0002948
18 2-3 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0004691
19 exotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000577
20 thoracic kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0005659
21 abnormality of brain morphology 58 31 frequent (33%) Frequent (79-30%) HP:0012443
22 lumbar hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0002938
23 exaggerated median tongue furrow 58 31 frequent (33%) Frequent (79-30%) HP:0002711
24 hypotonia 31 frequent (33%) HP:0001252
25 scoliosis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002650
26 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
27 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
28 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
29 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
30 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
31 stereotypy 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000733
32 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
33 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
34 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
35 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
36 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
37 abnormal social behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0012433
38 abnormality of the genital system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000078
39 butterfly vertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0003316
40 upper motor neuron dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002493
41 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0011968
42 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
43 fused cervical vertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0002949
44 abnormal temper tantrums 58 31 occasional (7.5%) Occasional (29-5%) HP:0025160
45 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
46 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
47 broad nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000455
48 short chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000331
49 mild postnatal growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001530
50 pes planus 31 occasional (7.5%) HP:0001763

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
poor speech development

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

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

Skeletal Hands:
clinodactyly
long fingers (in some patients)

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

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

Head And Neck Mouth:
open mouth

Muscle Soft Tissue:
hypotonia

Head And Neck Teeth:
crowded teeth

Neurologic Behavioral Psychiatric Manifestations:
stereotypic features

Clinical features from OMIM®:

616803 (Updated 05-Apr-2021)

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 29 SOX5

Anatomical Context for Lamb-Shaffer Syndrome

MalaCards organs/tissues related to Lamb-Shaffer Syndrome:

40
Brain, Tongue

Publications for Lamb-Shaffer Syndrome

Articles related to Lamb-Shaffer Syndrome:

# Title Authors PMID Year
1
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders. 57 6
26111154 2015
2
Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. 57 6
23498568 2013
3
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability. 57 6
23220431 2013
4
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. 6 57
22290657 2012
5
A copy number variation morbidity map of developmental delay. 57
21841781 2011
6
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5). 61
33296143 2021
7
A SOX5 gene variant as a possible contributor to short stature. 61
33434147 2020
8
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. 61
31578471 2020
9
Roles and regulation of SOX transcription factors in skeletogenesis. 61
30902252 2019
10
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation. 61
29477873 2018

Variations for Lamb-Shaffer Syndrome

ClinVar genetic disease variations for Lamb-Shaffer Syndrome:

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 6 genes GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1 copy number loss Pathogenic 666436 GRCh37: 12:22602778-25225668
GRCh38:
2 SOX5 GRCh37/hg19 12p12.1(chr12:24102502-24173232)x1 copy number loss Pathogenic 695070 GRCh37: 12:24102502-24173232
GRCh38:
3 SOX5 GRCh37/hg19 12p12.1(chr12:23723120-23908799)x1 copy number loss Pathogenic 695071 GRCh37: 12:23723120-23908799
GRCh38:
4 SOX5 GRCh37/hg19 12p12.1(chr12:23147341-23893799)x1 copy number loss Pathogenic 695072 GRCh37: 12:23147341-23893799
GRCh38:
5 overlap with 3 genes GRCh37/hg19 12p12.1(chr12:23457173-25177321)x1 copy number loss Pathogenic 695073 GRCh37: 12:23457173-25177321
GRCh38:
6 SOX5 GRCh37/hg19 12p12.1(chr12:23773664-23893799)x1 copy number loss Pathogenic 695074 GRCh37: 12:23773664-23893799
GRCh38:
7 SOX5 GRCh37/hg19 12p12.1(chr12:23718347-23769414)x1 copy number loss Pathogenic 695075 GRCh37: 12:23718347-23769414
GRCh38:
8 SOX5 GRCh37/hg19 12p12.1(chr12:23685093-23728869)x1 copy number loss Pathogenic 695076 GRCh37: 12:23685093-23728869
GRCh38:
9 SOX5 NM_006940.6(SOX5):c.518G>A (p.Trp173Ter) SNV Pathogenic 695077 rs1594078334 GRCh37: 12:23908622-23908622
GRCh38: 12:23755688-23755688
10 SOX5 NM_006940.6(SOX5):c.747_748del (p.Arg250fs) Deletion Pathogenic 522101 rs1555301854 GRCh37: 12:23887680-23887681
GRCh38: 12:23734746-23734747
11 SOX5 NM_006940.6(SOX5):c.820C>T (p.Gln274Ter) SNV Pathogenic 695078 rs1593090725 GRCh37: 12:23818489-23818489
GRCh38: 12:23665555-23665555
12 SOX5 NM_006940.6(SOX5):c.1465dup (p.Leu489fs) Duplication Pathogenic 695080 rs1592099396 GRCh37: 12:23716214-23716215
GRCh38: 12:23563280-23563281
13 SOX5 NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter) SNV Pathogenic 695081 rs895607185 GRCh37: 12:23716203-23716203
GRCh38: 12:23563269-23563269
14 SOX5 NM_006940.6(SOX5):c.1597+2T>A SNV Pathogenic 449233 rs1555141265 GRCh37: 12:23699248-23699248
GRCh38: 12:23546314-23546314
15 SOX5 NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter) SNV Pathogenic 695086 rs1591833842 GRCh37: 12:23689593-23689593
GRCh38: 12:23536659-23536659
16 SOX5 NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys) SNV Pathogenic 695087 rs1591833522 GRCh37: 12:23689561-23689561
GRCh38: 12:23536627-23536627
17 SOX5 NM_006940.6(SOX5):c.1819G>T (p.Glu607Ter) SNV Pathogenic 695088 rs1591833497 GRCh37: 12:23689556-23689556
GRCh38: 12:23536622-23536622
18 SOX5 NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter) SNV Pathogenic 222022 rs869025321 GRCh37: 12:23757425-23757425
GRCh38: 12:23604491-23604491
19 SOX5 NC_000012.12:g.23771866_23888764del Deletion Pathogenic 222020 GRCh37: 12:23924800-24041698
GRCh38: 12:23771866-23888764
20 SOX5 NC_000012.12:g.23484745_23564581del Deletion Pathogenic 222018 GRCh37: 12:23637679-23717515
GRCh38: 12:23484745-23564581
21 SOX5 NC_000012.11:g.23979791_24033225del Deletion Pathogenic 222021 GRCh37: 12:23979791-24033225
GRCh38: 12:23826857-23880291
22 SOX5 NC_000012.12:g.23488792_23626279del Deletion Pathogenic 222019 GRCh37: 12:23641726-23779213
GRCh38: 12:23488792-23626279
23 SOX5 NM_006940.6(SOX5):c.405dup (p.Lys136fs) Duplication Pathogenic 973764 GRCh37: 12:23998992-23998993
GRCh38: 12:23846058-23846059
24 SOX5 NM_006940.6(SOX5):c.959del (p.Pro320fs) Deletion Pathogenic 979189 GRCh37: 12:23793804-23793804
GRCh38: 12:23640870-23640870
25 SOX5 NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter) SNV Pathogenic 695082 rs1591909421 GRCh37: 12:23696303-23696303
GRCh38: 12:23543369-23543369
26 SOX5 NM_006940.6(SOX5):c.1678A>G (p.Met560Val) SNV Pathogenic 695083 rs1591908609 GRCh37: 12:23696238-23696238
GRCh38: 12:23543304-23543304
27 SOX5 NM_006940.6(SOX5):c.622C>T (p.Gln208Ter) SNV Pathogenic 545592 rs1555307370 GRCh37: 12:23893920-23893920
GRCh38: 12:23740986-23740986
28 SOX5 NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) SNV Pathogenic/Likely pathogenic 620040 rs1565669640 GRCh37: 12:23696205-23696205
GRCh38: 12:23543271-23543271
29 SOX5 NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter) SNV Likely pathogenic 695079 rs1592099852 GRCh37: 12:23716269-23716269
GRCh38: 12:23563335-23563335
30 SOX5 NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys) SNV Likely pathogenic 982856 GRCh37: 12:23696157-23696157
GRCh38: 12:23543223-23543223
31 SOX5 NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) SNV Likely pathogenic 503755 rs767241917 GRCh37: 12:23893905-23893905
GRCh38: 12:23740971-23740971
32 SOX5 NM_006940.6(SOX5):c.1681A>C (p.Asn561His) SNV Likely pathogenic 695084 rs1591908568 GRCh37: 12:23696235-23696235
GRCh38: 12:23543301-23543301
33 SOX5 NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn) SNV Likely pathogenic 431148 rs1135401816 GRCh37: 12:23689480-23689480
GRCh38: 12:23536546-23536546
34 SOX5 NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) SNV Likely pathogenic 695089 rs1591833159 GRCh37: 12:23689507-23689507
GRCh38: 12:23536573-23536573
35 SOX5 NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser) SNV Likely pathogenic 807695 rs1591833522 GRCh37: 12:23689561-23689561
GRCh38: 12:23536627-23536627
36 SOX5 NM_006940.6(SOX5):c.1789A>G (p.Met597Val) SNV Likely pathogenic 873457 GRCh37: 12:23689586-23689586
GRCh38: 12:23536652-23536652
37 SOX5 NM_006940.6(SOX5):c.482-2A>C SNV Likely pathogenic 374026 rs1057518845 GRCh37: 12:23908660-23908660
GRCh38: 12:23755726-23755726
38 SOX5 NM_006940.6(SOX5):c.1673G>A (p.Arg558His) SNV Likely pathogenic 973345 GRCh37: 12:23696243-23696243
GRCh38: 12:23543309-23543309
39 SOX5 NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu) SNV Likely pathogenic 695085 rs773832380 GRCh37: 12:23696204-23696204
GRCh38: 12:23543270-23543270
40 SOX5 NM_006940.6(SOX5):c.1050G>C (p.Gln350His) SNV Uncertain significance 634492 rs1566239985 GRCh37: 12:23757435-23757435
GRCh38: 12:23604501-23604501
41 SOX5 NM_006940.6(SOX5):c.616A>G (p.Ile206Val) SNV Uncertain significance 982743 GRCh37: 12:23893926-23893926
GRCh38: 12:23740992-23740992
42 SOX5 NM_006940.6(SOX5):c.1129G>A (p.Asp377Asn) SNV Uncertain significance 976166 GRCh37: 12:23757356-23757356
GRCh38: 12:23604422-23604422
43 SOX5 NM_006940.6(SOX5):c.1280G>T (p.Gly427Val) SNV Uncertain significance 1027694 GRCh37: 12:23728657-23728657
GRCh38: 12:23575723-23575723
44 SOX5 NM_006940.6(SOX5):c.211T>C (p.Ser71Pro) SNV Uncertain significance 1027695 GRCh37: 12:24048786-24048786
GRCh38: 12:23895852-23895852
45 SOX5 NM_006940.6(SOX5):c.251C>T (p.Thr84Ile) SNV Uncertain significance 1027696 GRCh37: 12:24048746-24048746
GRCh38: 12:23895812-23895812
46 SOX5 NM_006940.6(SOX5):c.1226C>A (p.Pro409His) SNV Uncertain significance 1033168 GRCh37: 12:23728711-23728711
GRCh38: 12:23575777-23575777
47 SOX5 NM_006940.6(SOX5):c.353G>T (p.Arg118Leu) SNV Uncertain significance 1033169 GRCh37: 12:23999045-23999045
GRCh38: 12:23846111-23846111
48 SOX5 NM_006940.6(SOX5):c.798G>T (p.Gln266His) SNV Uncertain significance 1033170 GRCh37: 12:23887630-23887630
GRCh38: 12:23734696-23734696
49 SOX5 NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser) SNV Uncertain significance 592122 rs754590341 GRCh37: 12:23757410-23757410
GRCh38: 12:23604476-23604476

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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37 LifeMap
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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