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

LAMSHF MCID: LMB069 MIFTS: 25	Lamb-Shaffer Syndrome (LAMSHF) Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues 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 ⁷⁵ ³⁷ 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 Bone 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

KEGG ³⁷ H02156

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 brain, bone and tongue, and related phenotypes are frontal bossing and intellectual disability

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.

Wikipedia : ⁷⁶ 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

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

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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

Brain, Bone, Tongue

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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	1402.89	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Role in the phenotype ⁵⁹ GeneCards inferred via : Disorders Variants (show sections)	22290657 23220431 26111154 (more) 23498568

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Variations for Lamb-Shaffer Syndrome

ClinVar genetic disease variations for Lamb-Shaffer Syndrome:

⁶ (show all 16)

#	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_000012.12: g.23826857_23880291del	deletion	Pathogenic		GRCh38	Chromosome 12, 23826857: 23880291
8	SOX5	NC_000012.12: g.23826857_23880291del	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
15	SOX5	NM_152989.4(SOX5): c.583C> T (p.Gln195Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 12, 23893920: 23893920
16	SOX5	NM_152989.4(SOX5): c.583C> T (p.Gln195Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 12, 23740986: 23740986

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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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³⁴ ICD10 via Orphanet

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⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Lamb-Shaffer Syndrome:

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

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