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

MCID: LMB069 MIFTS: 24	Lamb-Shaffer Syndrome Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Download 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 ⁷⁵ ²⁹ ⁶

Lamshf ⁵⁷ ⁷⁵

Developmental and Speech Delay Due to Sox5 Deficiency ⁵⁹

12p12.1 Microdeletion Syndrome ⁵⁹

Syndrome, Lamb-Shaffer ⁴⁰

Monosomy 12p12.1 ⁵⁹

Del(12)(p12.1) ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype

HPO:

³²

lamb-shaffer syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 616803

Orphanet ⁵⁹ ORPHA313892 ORPHA313884

ICD10 via Orphanet ³⁴ Q93.5

MedGen ⁴² C4225202 CN235184

MeSH ⁴⁴ D065886

SNOMED-CT via HPO ⁶⁹ 263681008 262016004 15253005 more

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Summaries for Lamb-Shaffer Syndrome

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)

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 tongue and brain, and related phenotypes are intellectual disability and motor delay

UniProtKB/Swiss-Prot : ⁷⁵ 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.

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Related Diseases for Lamb-Shaffer Syndrome

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Symptoms & Phenotypes for Lamb-Shaffer Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Lamb-Shaffer Syndrome:

⁵⁹ ³² (show all 48)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0001249
2	motor delay ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0001270
3	delayed speech and language development ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000750
4	hyperplasia of the maxilla ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0430028
5	narrow palate ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000189
6	strabismus ⁵⁹ ³²		Frequent (79-30%)	HP:0000486
7	myopia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000545
8	exotropia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000577
9	optic atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000648
10	dental crowding ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000678
11	anxiety ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000739
12	pectus carinatum ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000768
13	muscular hypotonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001252
14	frontal bossing ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002007
15	exaggerated median tongue furrow ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002711
16	lumbar hyperlordosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002938
17	vertebral fusion ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002948
18	2-3 toe syndactyly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004691
19	thoracic kyphoscoliosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005659
20	abnormality of brain morphology ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0012443
21	abnormality of the genital system ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000078
22	aggressive behavior ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000718
23	stereotypy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000733
24	seizures ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001250
25	mitral regurgitation ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001653
26	gastroesophageal reflux ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002020
27	scoliosis ⁵⁹ ³²		Occasional (29-5%)	HP:0002650
28	butterfly vertebrae ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003316
29	attention deficit hyperactivity disorder ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0007018
30	feeding difficulties ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0011968
31	self-injurious behavior ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100716
32	open mouth ³²			HP:0000194
33	epicanthus ³²			HP:0000286
34	facial asymmetry ³²			HP:0000324
35	posteriorly rotated ears ³²			HP:0000358
36	low-set ears ³²			HP:0000369
37	bulbous nose ³²			HP:0000414
38	wide nasal bridge ³²			HP:0000431
39	downslanted palpebral fissures ³²			HP:0000494
40	global developmental delay ³²			HP:0001263
41	generalized hypotonia ³²			HP:0001290
42	pes planus ³²	occasional (7.5%)		HP:0001763
43	overlapping toe ³²	occasional (7.5%)		HP:0001845
44	long hallux ³²	occasional (7.5%)		HP:0001847
45	depressed nasal bridge ³²			HP:0005280
46	vertebral clefting ³²	occasional (7.5%)		HP:0008428
47	clinodactyly ³²			HP:0030084
48	long fingers ³²	occasional (7.5%)		HP:0100807

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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:

⁴¹

Tongue, Brain

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Publications for Lamb-Shaffer Syndrome

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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 5	Protein Coding	1427.58	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ Role in the phenotype ⁵⁹ GeneCards inferred via : Disorders Variants (show sections)	26111154 23220431 22290657 (more) 23498568

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Variations for Lamb-Shaffer Syndrome

ClinVar genetic disease variations for Lamb-Shaffer Syndrome:

⁶

(show all 14)

#	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_006940.5(SOX5): c.637C> T (p.Arg213Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs767241917	GRCh37	Chromosome 12, 23893905: 23893905
14	SOX5	NM_006940.5(SOX5): c.637C> T (p.Arg213Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs767241917	GRCh38	Chromosome 12, 23740971: 23740971

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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

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia