Zimmermann-Laband Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Zimmermann-Laband Syndrome 3

MalaCards integrated aliases for Zimmermann-Laband Syndrome 3:

Name: Zimmermann-Laband Syndrome 3 ⁵⁷ ⁷³ ⁵

Zls3 ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

Classifications:

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

See all MalaCards categories (disease lists)

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Summaries for Zimmermann-Laband Syndrome 3

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. ZLS3 inheritance is autosomal dominant.

MalaCards based summary: Zimmermann-Laband Syndrome 3, is also known as zls3. An important gene associated with Zimmermann-Laband Syndrome 3 is KCNN3 (Potassium Calcium-Activated Channel Subfamily N Member 3). Related phenotypes are kyphosis and high palate

OMIM®: ⁵⁷ Zimmermann-Laband syndrome-3 (ZLS3) is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia (Bauer et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 (135500). (618658) (Updated 08-Dec-2022)

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Related Diseases for Zimmermann-Laband Syndrome 3

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 3

Human phenotypes related to Zimmermann-Laband Syndrome 3:

³⁰ (show all 28)

#	Description	HPO Frequency	HPO Source Accession
1	kyphosis ³⁰	Very rare (1%)	HP:0002808
2	high palate ³⁰	Very rare (1%)	HP:0000218
3	coarse facial features ³⁰	Very rare (1%)	HP:0000280
4	global developmental delay ³⁰	Very rare (1%)	HP:0001263
5	gingival overgrowth ³⁰	Very rare (1%)	HP:0000212
6	wide nasal bridge ³⁰	Very rare (1%)	HP:0000431
7	thick eyebrow ³⁰	Very rare (1%)	HP:0000574
8	thick lower lip vermilion ³⁰	Very rare (1%)	HP:0000179
9	patent ductus arteriosus ³⁰	Very rare (1%)	HP:0001643
10	low anterior hairline ³⁰	Very rare (1%)	HP:0000294
11	triphalangeal thumb ³⁰	Very rare (1%)	HP:0001199
12	synophrys ³⁰	Very rare (1%)	HP:0000664
13	bifid uvula ³⁰	Very rare (1%)	HP:0000193
14	thick hair ³⁰	Very rare (1%)	HP:0100874
15	long hallux ³⁰	Very rare (1%)	HP:0001847
16	broad nasal tip ³⁰	Very rare (1%)	HP:0000455
17	small nail ³⁰	Very rare (1%)	HP:0001792
18	absent toenail ³⁰	Very rare (1%)	HP:0001802
19	aplasia of the distal phalanx of the 5th toe ³⁰	Very rare (1%)	HP:0100380
20	long thumb ³⁰	Very rare (1%)	HP:0032524
21	absent distal phalanx of the 2nd toe ³⁰	Very rare (1%)	HP:0010432
22	intellectual disability ³⁰		HP:0001249
23	flexion contracture ³⁰		HP:0001371
24	short distal phalanx of finger ³⁰		HP:0009882
25	long eyelashes ³⁰		HP:0000527
26	generalized hypotonia ³⁰		HP:0001290
27	clinodactyly ³⁰		HP:0030084
28	absent distal phalanges ³⁰		HP:0005807

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Central Nervous System:
intellectual disability
hypotonia
developmental delay

Head And Neck Eyes:
synophrys
long eyelashes
thick eyebrows

Head And Neck Mouth:
bifid uvula
high-arched palate
gingival hyperplasia
full lips

Skeletal Hands:
clinodactyly
triphalangeal thumbs
long thumbs
hypoplastic distal phalanges
contractures

Head And Neck Face:
coarse face
facial hypertrichosis, mild

Skin Nails Hair Nails:
nail hypoplasia (fingers and toes)
nail aplasia (fingers and toes)

Cardiovascular Vascular:
patent ductus arteriosus

Skin Nails Hair Hair:
synophrys
long eyelashes
thick hair
facial hypertrichosis
thick eyebrows
more

Head And Neck Nose:
broad nasal tip
broad nasal bridge
thick alae nasi
triangular nostrils

Skeletal Feet:
absent distal phalanges
hypoplastic distal phalanges
long halluces

Skeletal Spine:
kyphosis, dorsolumbar

Clinical features from OMIM®:

618658 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Zimmermann-Laband Syndrome 3

Search Clinical Trials, NIH Clinical Center for Zimmermann-Laband Syndrome 3

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Genetic Tests for Zimmermann-Laband Syndrome 3

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Anatomical Context for Zimmermann-Laband Syndrome 3

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Publications for Zimmermann-Laband Syndrome 3

Articles related to Zimmermann-Laband Syndrome 3:

#	Title	Authors	PMID	Year
1	Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. ⁵⁷ ⁵	Bauer CK...Kutsche K	31155282	2019

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Genes for Zimmermann-Laband Syndrome 3

Genes related to Zimmermann-Laband Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KCNN3	Potassium Calcium-Activated Channel Subfamily N Member 3	Protein Coding	1208.11	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ GeneCards inferred via : Disorders (show sections)	31155282

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Variations for Zimmermann-Laband Syndrome 3

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 3:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KCNN3	NM_002249.6(KCNN3):c.1306A>T (p.Ser436Cys)	SNV	Pathogenic	804200	rs1571259807	GRCh37: 1:154744593-154744593 GRCh38: 1:154772117-154772117
2	KCNN3	NM_002249.6(KCNN3):c.805A>G (p.Lys269Glu)	SNV	Pathogenic	804201	rs1571353663	GRCh37: 1:154841636-154841636 GRCh38: 1:154869160-154869160
3	KCNN3	NM_002249.6(KCNN3):c.1049G>A (p.Gly350Asp)	SNV	Pathogenic	804202	rs1571260285	GRCh37: 1:154744850-154744850 GRCh38: 1:154772374-154772374
4	KCNN3	NM_002249.6(KCNN3):c.1606G>A (p.Ala536Thr)	SNV	Pathogenic	1064423		GRCh37: 1:154698487-154698487 GRCh38: 1:154726011-154726011
5	KCNN3	NM_002249.6(KCNN3):c.2080G>A (p.Glu694Lys)	SNV	Uncertain Significance	1098591		GRCh37: 1:154680568-154680568 GRCh38: 1:154708092-154708092
6	KCNN3	NM_002249.6(KCNN3):c.1343G>A (p.Arg448His)	SNV	Uncertain Significance	1029428	rs777143484	GRCh37: 1:154744556-154744556 GRCh38: 1:154772080-154772080
7	KCNN3	NM_002249.6(KCNN3):c.504C>A (p.Asn168Lys)	SNV	Uncertain Significance	1333820		GRCh37: 1:154841937-154841937 GRCh38: 1:154869461-154869461
8	KCNN3	NM_002249.6(KCNN3):c.1701+3059C>T	SNV	Uncertain Significance	1679705		GRCh37: 1:154695333-154695333 GRCh38: 1:154722857-154722857
9	KCNN3	NM_002249.6(KCNN3):c.1092G>C (p.Leu364=)	SNV	Benign	403001	rs1051614	GRCh37: 1:154744807-154744807 GRCh38: 1:154772331-154772331
10	KCNN3	NM_002249.6(KCNN3):c.1047T>C (p.Asn349=)	SNV	Benign	403002	rs1131820	GRCh37: 1:154744852-154744852 GRCh38: 1:154772376-154772376

UniProtKB/Swiss-Prot genetic disease variations for Zimmermann-Laband Syndrome 3:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	KCNN3	p.Lys269Glu	VAR_083434	rs1571353663
2	KCNN3	p.Gly350Asp	VAR_083435	rs1571260285
3	KCNN3	p.Ser436Cys	VAR_083436	rs1571259807

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Expression for Zimmermann-Laband Syndrome 3

Search GEO for disease gene expression data for Zimmermann-Laband Syndrome 3.

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Pathways for Zimmermann-Laband Syndrome 3

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GO Terms for Zimmermann-Laband Syndrome 3

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Sources for Zimmermann-Laband Syndrome 3

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⁵³ Novoseek

⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

ZLS3 MCID: ZMM004 MIFTS: 22	Zimmermann-Laband Syndrome 3 (ZLS3) 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 3 (ZLS3)

Aliases & Classifications for Zimmermann-Laband Syndrome 3

MalaCards integrated aliases for Zimmermann-Laband Syndrome 3:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Zimmermann-Laband Syndrome 3

Related Diseases for Zimmermann-Laband Syndrome 3

Diseases in the Zimmermann-Laband Syndrome family:

Symptoms & Phenotypes for Zimmermann-Laband Syndrome 3

Human phenotypes related to Zimmermann-Laband Syndrome 3:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Zimmermann-Laband Syndrome 3

Genetic Tests for Zimmermann-Laband Syndrome 3

Anatomical Context for Zimmermann-Laband Syndrome 3

Publications for Zimmermann-Laband Syndrome 3

Articles related to Zimmermann-Laband Syndrome 3:

Genes for Zimmermann-Laband Syndrome 3

Genes related to Zimmermann-Laband Syndrome 3 (1 elite genes):

Variations for Zimmermann-Laband Syndrome 3

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 3:

UniProtKB/Swiss-Prot genetic disease variations for Zimmermann-Laband Syndrome 3:

Expression for Zimmermann-Laband Syndrome 3

Pathways for Zimmermann-Laband Syndrome 3

GO Terms for Zimmermann-Laband Syndrome 3

Sources for Zimmermann-Laband Syndrome 3