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

LAMSHF MCID: LMB069 MIFTS: 27	Lamb-Shaffer Syndrome (LAMSHF) Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues 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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

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: ⁶⁰

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 616803

KEGG ³⁸ H02156

MeSH ⁴⁵ D065886

ICD10 via Orphanet ³⁵ Q93.5

Orphanet ⁶⁰ ORPHA313884 ORPHA313892 ORPHA530983

MedGen ⁴³ C4225202 CN235184

SNOMED-CT via HPO ⁷⁰ 111266001 12351004 128602000 more

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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...

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Related Diseases for Lamb-Shaffer Syndrome

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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

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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 ³⁰	SOX5

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Anatomical Context for Lamb-Shaffer Syndrome

MalaCards organs/tissues related to Lamb-Shaffer Syndrome:

⁴²

Brain, Tongue, Bone

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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 )	Nesbitt A...Santani A	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 )	Schanze I...Zenker M	2013
3	Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. ( 23498568 )	Lee RW...Batista D	2013
4	Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. ( 22290657 )	Lamb AN...Shaffer LG	2012

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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	1403.04	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ Role in the phenotype ⁶⁰ GeneCards inferred via : Disorders Variants (show sections)	26111154 22290657 23220431 (more) 23498568

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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

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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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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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