ZLS2
MCID: ZMM003
MIFTS: 23

Zimmermann-Laband Syndrome 2 (ZLS2)

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

Aliases & Classifications for Zimmermann-Laband Syndrome 2

MalaCards integrated aliases for Zimmermann-Laband Syndrome 2:

Name: Zimmermann-Laband Syndrome 2 57 72 29 6
Zls2 57 72
Syndrome, Zimmermann-Laband, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
zimmermann-laband syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Zimmermann-Laband Syndrome 2

UniProtKB/Swiss-Prot : 72 Zimmermann-Laband syndrome 2: 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). Affiliated tissues include liver, and 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:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 kyphosis 31 occasional (7.5%) HP:0002808
3 generalized hypotonia 31 occasional (7.5%) HP:0001290
4 widow's peak 31 occasional (7.5%) HP:0000349
5 short neck 31 HP:0000470
6 macroglossia 31 HP:0000158
7 gingival overgrowth 31 HP:0000212
8 wide nasal bridge 31 HP:0000431
9 thick vermilion border 31 HP:0012471
10 sensorineural hearing impairment 31 HP:0000407
11 thick eyebrow 31 HP:0000574
12 short stature 31 HP:0004322
13 deep philtrum 31 HP:0002002
14 underdeveloped nasal alae 31 HP:0000430
15 synophrys 31 HP:0000664
16 long eyelashes 31 HP:0000527
17 bifid nasal tip 31 HP:0000456
18 prominent nasal septum 31 HP:0005322

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 29 ATP6V1B2

Anatomical Context for Zimmermann-Laband Syndrome 2

MalaCards organs/tissues related to Zimmermann-Laband Syndrome 2:

40
Liver

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 6
25915598 2015
2
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. 57 6
23994350 2013
3
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. 57 6
18541964 2008
4
Effect of microwave crystallization on the wear resistance of reinforced glass-ceramics. 61
32750672 2020
5
ATP6V1B2-related epileptic encephalopathy. 61
32597767 2020
6
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. 61
31655144 2020
7
Three-body wear effect on different CAD/CAM ceramics staining durability. 61
32090908 2020

Variations for Zimmermann-Laband Syndrome 2

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 2:

6
# 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 GRCh37: 8:20077814-20077814
GRCh38: 8:20220303-20220303

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

72
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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