ZLS3
MCID: ZMM004
MIFTS: 17

Zimmermann-Laband Syndrome 3 (ZLS3)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Liver diseases, Neuronal diseases, Oral diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Zimmermann-Laband Syndrome 3

MalaCards integrated aliases for Zimmermann-Laband Syndrome 3:

Name: Zimmermann-Laband Syndrome 3 56 73 6
Zls3 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 56 618658
OMIM Phenotypic Series 56 PS135500
MeSH 43 D000015
MedGen 41 CN262700

Summaries for Zimmermann-Laband Syndrome 3

UniProtKB/Swiss-Prot : 73 Zimmermann-Laband syndrome 3: 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).

OMIM : 56 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)

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

Symptoms via clinical synopsis from OMIM:

56
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

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. 56 6
31155282 2019

Variations for Zimmermann-Laband Syndrome 3

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 3:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNN3 NM_002249.6(KCNN3):c.1306A>T (p.Ser436Cys)SNV Pathogenic 804200 1:154744593-154744593 1:154772117-154772117
2 KCNN3 NM_002249.6(KCNN3):c.805A>G (p.Lys269Glu)SNV Pathogenic 804201 1:154841636-154841636 1:154869160-154869160
3 KCNN3 NM_002249.6(KCNN3):c.1049G>A (p.Gly350Asp)SNV Pathogenic 804202 1:154744850-154744850 1:154772374-154772374

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
2 KCNN3 p.Gly350Asp VAR_083435
3 KCNN3 p.Ser436Cys VAR_083436

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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