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
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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:



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)

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

Symptoms & Phenotypes for Zimmermann-Laband Syndrome 3

Human phenotypes related to Zimmermann-Laband Syndrome 3:

30 (show all 28)
# Description HPO Frequency Orphanet 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)

Drugs & Therapeutics for Zimmermann-Laband Syndrome 3

Search Clinical Trials, NIH Clinical Center 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:

# 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
31155282 2019

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

Expression for Zimmermann-Laband Syndrome 3

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

Pathways for Zimmermann-Laband Syndrome 3

GO Terms for Zimmermann-Laband Syndrome 3

Sources for Zimmermann-Laband Syndrome 3

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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