Lamb-Shaffer Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LAMSHF MCID: LMB069 MIFTS: 31	Lamb-Shaffer Syndrome (LAMSHF) Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Lamb-Shaffer Syndrome

MalaCards integrated aliases for Lamb-Shaffer Syndrome:

Name: Lamb-Shaffer Syndrome ⁵⁶ ⁵⁸ ⁷³ ³⁶ ²⁹ ⁶

Lamshf ⁵⁶ ⁷³

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:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype

HPO:

³¹

lamb-shaffer syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Monosomies and deletions from the autosomes, not elsewhere classified

Other deletions of part of a chromosome

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 616803

KEGG ³⁶ H02156

MeSH ⁴³ D065886

ICD10 via Orphanet ³³ Q93.5

Orphanet ⁵⁸ ORPHA313884 ORPHA313892 ORPHA530983

MedGen ⁴¹ C4225202 CN235184

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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 : ⁵⁶ 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)

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Lamb-Shaffer syndrome is a rare autosomal dominant condition. Less than 40 cases have been reported by... more...

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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	10.2

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Symptoms & Phenotypes for Lamb-Shaffer Syndrome

Human phenotypes related to Lamb-Shaffer Syndrome:

⁵⁸ ³¹ (show all 49)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	obligate (100%)	Obligate (100%)	HP:0001249
2	motor delay ⁵⁸ ³¹	obligate (100%)	Obligate (100%)	HP:0001270
3	delayed speech and language development ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000750
4	hyperplasia of the maxilla ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0430028
5	narrow palate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000189
6	muscular hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001252
7	pectus carinatum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000768
8	optic atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000648
9	frontal bossing ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002007
10	anxiety ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000739
11	myopia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000545
12	dental crowding ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000678
13	vertebral fusion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002948
14	2-3 toe syndactyly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004691
15	exotropia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000577
16	abnormality of brain morphology ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012443
17	lumbar hyperlordosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002938
18	exaggerated median tongue furrow ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002711
19	thoracic kyphoscoliosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005659
20	gastroesophageal reflux ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002020
21	stereotypy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000733
22	feeding difficulties ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011968
23	attention deficit hyperactivity disorder ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007018
24	mitral regurgitation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001653
25	self-injurious behavior ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100716
26	abnormality of the genital system ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000078
27	butterfly vertebrae ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003316
28	aggressive behavior ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000718
29	pes planus ³¹	occasional (7.5%)		HP:0001763
30	long hallux ³¹	occasional (7.5%)		HP:0001847
31	vertebral clefting ³¹	occasional (7.5%)		HP:0008428
32	long fingers ³¹	occasional (7.5%)		HP:0100807
33	overlapping toe ³¹	occasional (7.5%)		HP:0001845
34	seizure ³¹	occasional (7.5%)		HP:0001250
35	scoliosis ⁵⁸ ³¹		Occasional (29-5%)	HP:0002650
36	strabismus ⁵⁸ ³¹		Frequent (79-30%)	HP:0000486
37	global developmental delay ³¹			HP:0001263
38	depressed nasal bridge ³¹			HP:0005280
39	wide nasal bridge ³¹			HP:0000431
40	seizures ⁵⁸		Occasional (29-5%)
41	low-set ears ³¹			HP:0000369
42	epicanthus ³¹			HP:0000286
43	downslanted palpebral fissures ³¹			HP:0000494
44	open mouth ³¹			HP:0000194
45	facial asymmetry ³¹			HP:0000324
46	bulbous nose ³¹			HP:0000414
47	posteriorly rotated ears ³¹			HP:0000358
48	generalized hypotonia ³¹			HP:0001290
49	clinodactyly ³¹			HP:0030084

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Head And Neck Face:
frontal bossing
facial asymmetry

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 Nose:
depressed nasal bridge
broad nasal bridge
bulbous nasal tip

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

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Drugs & Therapeutics for Lamb-Shaffer Syndrome

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

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Genetic Tests for Lamb-Shaffer Syndrome

Genetic tests related to Lamb-Shaffer Syndrome:

#	Genetic test	Affiliating Genes
1	Lamb-Shaffer Syndrome ²⁹	SOX5

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Anatomical Context for Lamb-Shaffer Syndrome

MalaCards organs/tissues related to Lamb-Shaffer Syndrome:

⁴⁰

Brain, Tongue

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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. ⁵⁶ ⁶	Nesbitt A...Santani A	26111154	2015
2	Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. ⁵⁶ ⁶	Lee RW...Batista D	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. ⁵⁶ ⁶	Schanze I...Zenker M	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 ⁵⁶	Lamb AN...Shaffer LG	22290657	2012
5	A copy number variation morbidity map of developmental delay. ⁵⁶	Cooper GM...Eichler EE	21841781	2011
6	Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. ⁶¹	Zawerton A...Depienne C	31578471	2020
7	Roles and regulation of SOX transcription factors in skeletogenesis. ⁶¹	Lefebvre V	30902252	2019
8	Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation. ⁶¹	Fukushi D...Wakamatsu N	29477873	2018

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Genes for Lamb-Shaffer Syndrome

Genes related to Lamb-Shaffer Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SOX5	SRY-Box Transcription Factor 5	Protein Coding	1393.78	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Role in the phenotype ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	23220431 26111154 22290657 (more) 23498568

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Variations for Lamb-Shaffer Syndrome

ClinVar genetic disease variations for Lamb-Shaffer Syndrome:

⁶ (show all 36) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SOX5	NM_006940.6(SOX5):c.1597+2T>A	SNV	Pathogenic	449233	rs1555141265	12:23699248-23699248	12:23546314-23546314
2	SOX5	NM_006940.6(SOX5):c.747_748del (p.Arg250fs)	deletion	Pathogenic	522101	rs1555301854	12:23887680-23887681	12:23734746-23734747
3	SOX5	NM_006940.6(SOX5):c.622C>T (p.Gln208Ter)	SNV	Pathogenic	545592	rs1555307370	12:23893920-23893920	12:23740986-23740986
4	BCAT1 , C12orf77 , C2CD5 , ETNK1 , IRAG2 , SOX5	GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1	copy number loss	Pathogenic	666436		12:22602778-25225668
5	SOX5	NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter)	SNV	Pathogenic	695082		12:23696303-23696303	12:23543369-23543369
6	SOX5	GRCh37/hg19 12p12.1(chr12:23685093-23728869)x1	copy number loss	Pathogenic	695076		12:23685093-23728869
7	SOX5	NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter)	SNV	Pathogenic	695081		12:23716203-23716203	12:23563269-23563269
8	SOX5	NM_006940.6(SOX5):c.1465dup (p.Leu489fs)	duplication	Pathogenic	695080		12:23716214-23716215	12:23563280-23563281
9	SOX5	NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter)	SNV	Pathogenic	695079		12:23716269-23716269	12:23563335-23563335
10	SOX5	NM_006940.6(SOX5):c.820C>T (p.Gln274Ter)	SNV	Pathogenic	695078		12:23818489-23818489	12:23665555-23665555
11	SOX5	NM_006940.6(SOX5):c.518G>A (p.Trp173Ter)	SNV	Pathogenic	695077		12:23908622-23908622	12:23755688-23755688
12	SOX5	GRCh37/hg19 12p12.1(chr12:24102502-24173232)x1	copy number loss	Pathogenic	695070		12:24102502-24173232
13	SOX5	GRCh37/hg19 12p12.1(chr12:23723120-23908799)x1	copy number loss	Pathogenic	695071		12:23723120-23908799
14	SOX5	GRCh37/hg19 12p12.1(chr12:23147341-23893799)x1	copy number loss	Pathogenic	695072		12:23147341-23893799
15	SOX5	GRCh37/hg19 12p12.1(chr12:23457173-25177321)x1	copy number loss	Pathogenic	695073		12:23457173-25177321
16	SOX5	GRCh37/hg19 12p12.1(chr12:23773664-23893799)x1	copy number loss	Pathogenic	695074		12:23773664-23893799
17	SOX5	GRCh37/hg19 12p12.1(chr12:23718347-23769414)x1	copy number loss	Pathogenic	695075		12:23718347-23769414
18	SOX5	NM_006940.6(SOX5):c.1819G>T (p.Glu607Ter)	SNV	Pathogenic	695088		12:23689556-23689556	12:23536622-23536622
19	SOX5	NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys)	SNV	Pathogenic	695087		12:23689561-23689561	12:23536627-23536627
20	SOX5	NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter)	SNV	Pathogenic	695086		12:23689593-23689593	12:23536659-23536659
21	SOX5	NC_000012.12:g.23484745_23564581del	deletion	Pathogenic	222018		12:23637679-23717515	12:23484745-23564581
22	SOX5	NC_000012.12:g.23488792_23626279del	deletion	Pathogenic	222019		12:23641726-23779213	12:23488792-23626279
23	SOX5	NC_000012.12:g.23771866_23888764del	deletion	Pathogenic	222020		12:23924800-24041698	12:23771866-23888764
24	SOX5	NC_000012.11:g.23979791_24033225del	deletion	Pathogenic	222021		12:23979791-24033225	12:23826857-23880291
25	SOX5	NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter)	SNV	Pathogenic	222022	rs869025321	12:23757425-23757425	12:23604491-23604491
26	SOX5	NM_006940.6(SOX5):c.637C>T (p.Arg213Ter)	SNV	Pathogenic/Likely pathogenic	503755	rs767241917	12:23893905-23893905	12:23740971-23740971
27	SOX5	NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)	SNV	Likely pathogenic	695089		12:23689507-23689507	12:23536573-23536573
28	SOX5	NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser)	SNV	Likely pathogenic	807695		12:23689561-23689561	12:23536627-23536627
29	SOX5	NM_006940.6(SOX5):c.1789A>G (p.Met597Val)	SNV	Likely pathogenic	873457		12:23689586-23689586	12:23536652-23536652
30	SOX5	NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu)	SNV	Likely pathogenic	695085		12:23696204-23696204	12:23543270-23543270
31	SOX5	NM_006940.6(SOX5):c.1681A>C (p.Asn561His)	SNV	Likely pathogenic	695084		12:23696235-23696235	12:23543301-23543301
32	SOX5	NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)	SNV	Likely pathogenic	620040	rs1565669640	12:23696205-23696205	12:23543271-23543271
33	SOX5	NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn)	SNV	Likely pathogenic	431148	rs1135401816	12:23689480-23689480	12:23536546-23536546
34	SOX5	NM_006940.6(SOX5):c.1050G>C (p.Gln350His)	SNV	Uncertain significance	634492	rs1566239985	12:23757435-23757435	12:23604501-23604501
35	SOX5	NM_006940.6(SOX5):c.1678A>G (p.Met560Val)	SNV	Uncertain significance	695083		12:23696238-23696238	12:23543304-23543304
36	SOX5	NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser)	SNV	Uncertain significance	592122	rs754590341	12:23757410-23757410	12:23604476-23604476

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Expression for Lamb-Shaffer Syndrome

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

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Pathways for Lamb-Shaffer Syndrome

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GO Terms for Lamb-Shaffer Syndrome

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Sources for Lamb-Shaffer Syndrome

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⁷¹ UMLS

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⁷⁴ Wikipedia

Lamb-Shaffer Syndrome (LAMSHF)

Aliases & Classifications for Lamb-Shaffer Syndrome

MalaCards integrated aliases for Lamb-Shaffer Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lamb-Shaffer Syndrome

Related Diseases for Lamb-Shaffer Syndrome

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

Symptoms & Phenotypes for Lamb-Shaffer Syndrome

Human phenotypes related to Lamb-Shaffer Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Lamb-Shaffer Syndrome

Genetic Tests for Lamb-Shaffer Syndrome

Genetic tests related to Lamb-Shaffer Syndrome:

Anatomical Context for Lamb-Shaffer Syndrome

MalaCards organs/tissues related to Lamb-Shaffer Syndrome:

Publications for Lamb-Shaffer Syndrome

Articles related to Lamb-Shaffer Syndrome:

Genes for Lamb-Shaffer Syndrome

Genes related to Lamb-Shaffer Syndrome (1 elite genes):

Variations for Lamb-Shaffer Syndrome

ClinVar genetic disease variations for Lamb-Shaffer Syndrome:

Expression for Lamb-Shaffer Syndrome

Pathways for Lamb-Shaffer Syndrome

GO Terms for Lamb-Shaffer Syndrome

Sources for Lamb-Shaffer Syndrome