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

LAMSHF MCID: LMB069 MIFTS: 32	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 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:

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® ⁵⁷ 616803

KEGG ³⁶ H02156

MeSH ⁴⁴ D065886

ICD10 via Orphanet ³³ Q93.5

Orphanet ⁵⁸ ORPHA313884 ORPHA313892 ORPHA530983

MedGen ⁴¹ C4225202 CN235184

SNOMED-CT via HPO ⁶⁸ 111266001 12351004 128602000 more

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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® : 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...

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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	10.1

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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)

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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. ⁵⁷ ⁶	Nesbitt A...Santani A	26111154	2015
2	Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. ⁵⁷ 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. ⁵⁷ 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 ⁵⁷	Lamb AN...Shaffer LG	22290657	2012
5	A copy number variation morbidity map of developmental delay. ⁵⁷	Cooper GM...Eichler EE	21841781	2011
6	Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5). ⁶¹	Innella G...Graziano C	33296143	2021
7	A SOX5 gene variant as a possible contributor to short stature. ⁶¹	Gkirgkinoudis A...Stratakis CA	33434147	2020
8	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
9	Roles and regulation of SOX transcription factors in skeletogenesis. ⁶¹	Lefebvre V	30902252	2019
10	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	PubMed IDs
1	SOX5	SRY-Box Transcription Factor 5	Protein Coding	1428.59	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ Role in the phenotype ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)	26111154 22290657

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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

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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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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