Zimmermann-Laband Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Zimmermann-Laband Syndrome 2

MalaCards integrated aliases for Zimmermann-Laband Syndrome 2:

Name: Zimmermann-Laband Syndrome 2 ⁵⁷ ⁷³ ²⁸ ⁵

Zls2 ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Oral diseases Ear diseases Smell/Taste diseases Liver diseases Mental diseases

See all MalaCards categories (disease lists)

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Summaries for Zimmermann-Laband Syndrome 2

UniProtKB/Swiss-Prot: ⁷³ A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS2 inheritance is autosomal dominant.

MalaCards based summary: Zimmermann-Laband Syndrome 2, is also known as zls2. An important gene associated with Zimmermann-Laband Syndrome 2 is ATP6V1B2 (ATPase H+ Transporting V1 Subunit B2). Related phenotypes are intellectual disability and kyphosis

More information from OMIM: 616455 PS135500

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Related Diseases for Zimmermann-Laband Syndrome 2

Diseases in the Zimmermann-Laband Syndrome family:

Zimmermann-Laband Syndrome 1	Zimmermann-Laband Syndrome 2
Zimmermann-Laband Syndrome 3

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Symptoms & Phenotypes for Zimmermann-Laband Syndrome 2

Human phenotypes related to Zimmermann-Laband Syndrome 2:

³⁰ (show all 21)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³⁰	Very rare (1%)	HP:0001249
2	kyphosis ³⁰	Very rare (1%)	HP:0002808
3	short neck ³⁰	Very rare (1%)	HP:0000470
4	macroglossia ³⁰	Very rare (1%)	HP:0000158
5	coarse facial features ³⁰	Very rare (1%)	HP:0000280
6	global developmental delay ³⁰	Very rare (1%)	HP:0001263
7	gingival overgrowth ³⁰	Very rare (1%)	HP:0000212
8	thick vermilion border ³⁰	Very rare (1%)	HP:0012471
9	sensorineural hearing impairment ³⁰	Very rare (1%)	HP:0000407
10	thick eyebrow ³⁰	Very rare (1%)	HP:0000574
11	short stature ³⁰	Very rare (1%)	HP:0004322
12	deep philtrum ³⁰	Very rare (1%)	HP:0002002
13	underdeveloped nasal alae ³⁰	Very rare (1%)	HP:0000430
14	synophrys ³⁰	Very rare (1%)	HP:0000664
15	long eyelashes ³⁰	Very rare (1%)	HP:0000527
16	hirsutism ³⁰	Very rare (1%)	HP:0001007
17	generalized hypotonia ³⁰	Very rare (1%)	HP:0001290
18	anonychia ³⁰	Very rare (1%)	HP:0001798
19	widow's peak ³⁰	Very rare (1%)	HP:0000349
20	bifid nasal tip ³⁰	Very rare (1%)	HP:0000456
21	prominent nasal septum ³⁰	Very rare (1%)	HP:0005322

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Neck:
short neck

Growth Height:
short stature

Head And Neck Nose:
bifid nasal tip
prominent nasal septum
broad nasal bridge
hypoplastic nasal alae
bulbous fleshy nose
more

Head And Neck Face:
prominent philtrum

Head And Neck Head:
widow's peak (in some patients)

Skeletal Limbs:
generalized joint hypermobility (in some patients)

Skeletal Feet:
aplasia of distal phalanges, second through fifth toes
variable hypoplasia of middle phalanges, second through fifth toes
valgus deformity of the feet (rare)

Skin Nails Hair Nails:
hyponychia/anonychia, congenital

Head And Neck Mouth:
macroglossia
gingival hyperplasia
full lips

Head And Neck Eyes:
synophrys
thick eyebrows
laterally flared eyebrows
thick, long eyelashes

Head And Neck Ears:
sensorineural deafness
soft, thick helices and lobules

Neurologic Central Nervous System:
mental retardation (in some patients)
hypotonia, generalized (in some patients)

Skeletal Spine:
kyphosis (in some patients)

Skeletal Hands:
variable aplasia or hypoplasia of distal phalanges
variable aplasia or hypoplasia of middle phalanges

Skin Nails Hair Skin:
prominent fingerpads (rare)

Skin Nails Hair Hair:
hypertrichosis (hirsutism)

Clinical features from OMIM®:

616455 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Zimmermann-Laband Syndrome 2

Search Clinical Trials, NIH Clinical Center for Zimmermann-Laband Syndrome 2

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Genetic Tests for Zimmermann-Laband Syndrome 2

Genetic tests related to Zimmermann-Laband Syndrome 2:

#	Genetic test	Affiliating Genes
1	Zimmermann-Laband Syndrome 2 ²⁸	ATP6V1B2

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Anatomical Context for Zimmermann-Laband Syndrome 2

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Publications for Zimmermann-Laband Syndrome 2

Articles related to Zimmermann-Laband Syndrome 2:

#	Title	Authors	PMID	Year
1	Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. ⁵⁷ ⁵	Kortum F...Kutsche K	25915598	2015
2	Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. ⁵⁷ ⁵	Castori M...Grammatico P	23994350	2013
3	No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. ⁵⁷ ⁵	Abo-Dalo B...Kutsche K	18541964	2008
4	A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype. ⁶²	Veltra D...Sofocleous C	36135319	2022
5	Effect of microwave crystallization on the wear resistance of reinforced glass-ceramics. ⁶²	de Carvalho ABG...Kleverlaan CJ	32750672	2020
6	ATP6V1B2-related epileptic encephalopathy. ⁶²	Inuzuka LM...Kok F	32597767	2020
7	EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. ⁶²	Shaw M...Gecz J	31655144	2020
8	Three-body wear effect on different CAD/CAM ceramics staining durability. ⁶²	Dal Piva AMO...Kleverlaan CJ	32090908	2020

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Genes for Zimmermann-Laband Syndrome 2

Genes related to Zimmermann-Laband Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ATP6V1B2	ATPase H+ Transporting V1 Subunit B2	Protein Coding	1333.1	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	18541964 23994350 25915598

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Variations for Zimmermann-Laband Syndrome 2

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 2:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro)	SNV	Pathogenic	183414	rs730882177	GRCh37: 8:20077831-20077831 GRCh38: 8:20220320-20220320
2	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1465A>T (p.Lys489Ter)	SNV	Pathogenic	634920	rs1585256207	GRCh37: 8:20077842-20077842 GRCh38: 8:20220331-20220331
3	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln)	SNV	Likely Pathogenic	431094	rs1135401772	GRCh37: 8:20073965-20073965 GRCh38: 8:20216454-20216454
4	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1437T>G (p.Ile479Met)	SNV	Uncertain Significance	930988	rs2072895089	GRCh37: 8:20077814-20077814 GRCh38: 8:20220303-20220303
5	ATP6V1B2	NM_001693.4(ATP6V1B2):c.463+6T>G	SNV	Benign	1192466		GRCh37: 8:20068163-20068163 GRCh38: 8:20210652-20210652

UniProtKB/Swiss-Prot genetic disease variations for Zimmermann-Laband Syndrome 2:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	ATP6V1B2	p.Arg485Pro	VAR_073962	rs730882177

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Expression for Zimmermann-Laband Syndrome 2

Search GEO for disease gene expression data for Zimmermann-Laband Syndrome 2.

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Pathways for Zimmermann-Laband Syndrome 2

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GO Terms for Zimmermann-Laband Syndrome 2

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Sources for Zimmermann-Laband Syndrome 2

¹ BitterDB

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⁸ Cosmic

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³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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³⁹ MalaCards

⁴⁰ MedGen

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

ZLS2 MCID: ZMM003 MIFTS: 23	Zimmermann-Laband Syndrome 2 (ZLS2) Categories: Ear diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases, Smell/Taste diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Publications Symptoms & Phenotypes Expand all tables

Zimmermann-Laband Syndrome 2 (ZLS2)

Aliases & Classifications for Zimmermann-Laband Syndrome 2

MalaCards integrated aliases for Zimmermann-Laband Syndrome 2:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Zimmermann-Laband Syndrome 2

Related Diseases for Zimmermann-Laband Syndrome 2

Diseases in the Zimmermann-Laband Syndrome family:

Symptoms & Phenotypes for Zimmermann-Laband Syndrome 2

Human phenotypes related to Zimmermann-Laband Syndrome 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Zimmermann-Laband Syndrome 2

Genetic Tests for Zimmermann-Laband Syndrome 2

Genetic tests related to Zimmermann-Laband Syndrome 2:

Anatomical Context for Zimmermann-Laband Syndrome 2

Publications for Zimmermann-Laband Syndrome 2

Articles related to Zimmermann-Laband Syndrome 2:

Genes for Zimmermann-Laband Syndrome 2

Genes related to Zimmermann-Laband Syndrome 2 (1 elite genes):

Variations for Zimmermann-Laband Syndrome 2

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 2:

UniProtKB/Swiss-Prot genetic disease variations for Zimmermann-Laband Syndrome 2:

Expression for Zimmermann-Laband Syndrome 2

Pathways for Zimmermann-Laband Syndrome 2

GO Terms for Zimmermann-Laband Syndrome 2

Sources for Zimmermann-Laband Syndrome 2