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
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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:



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

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

Symptoms & Phenotypes for Zimmermann-Laband Syndrome 2

Human phenotypes related to Zimmermann-Laband Syndrome 2:

30 (show all 21)
# Description HPO Frequency Orphanet 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)

Drugs & Therapeutics for Zimmermann-Laband Syndrome 2

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

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

Anatomical Context for Zimmermann-Laband Syndrome 2

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
25915598 2015
2
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. 57 5
23994350 2013
3
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. 57 5
18541964 2008
4
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype. 62
36135319 2022
5
Effect of microwave crystallization on the wear resistance of reinforced glass-ceramics. 62
32750672 2020
6
ATP6V1B2-related epileptic encephalopathy. 62
32597767 2020
7
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. 62
31655144 2020
8
Three-body wear effect on different CAD/CAM ceramics staining durability. 62
32090908 2020

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

Expression for Zimmermann-Laband Syndrome 2

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

Pathways for Zimmermann-Laband Syndrome 2

GO Terms for Zimmermann-Laband Syndrome 2

Sources for Zimmermann-Laband Syndrome 2

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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