ZLS2
MCID: ZMM003
MIFTS: 19

Zimmermann-Laband Syndrome 2 (ZLS2)

Categories: Fetal diseases, Genetic diseases, Liver diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Zimmermann-Laband Syndrome 2

MalaCards integrated aliases for Zimmermann-Laband Syndrome 2:

Name: Zimmermann-Laband Syndrome 2 58 76 30 6
Zls2 58 76
Zimmermann-Laband Syndrome, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
zimmermann-laband syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Zimmermann-Laband Syndrome 2

UniProtKB/Swiss-Prot : 76 Zimmermann-Laband syndrome 2: A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears.

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

Description from OMIM: 616455

Related Diseases for Zimmermann-Laband Syndrome 2

Diseases in the Zimmermann-Laband Syndrome family:

Zimmermann-Laband Syndrome 1 Zimmermann-Laband Syndrome 2

Symptoms & Phenotypes for Zimmermann-Laband Syndrome 2

Human phenotypes related to Zimmermann-Laband Syndrome 2:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 kyphosis 33 occasional (7.5%) HP:0002808
3 generalized hypotonia 33 occasional (7.5%) HP:0001290
4 widow's peak 33 occasional (7.5%) HP:0000349
5 short neck 33 HP:0000470
6 macroglossia 33 HP:0000158
7 gingival overgrowth 33 HP:0000212
8 wide nasal bridge 33 HP:0000431
9 thick vermilion border 33 HP:0012471
10 sensorineural hearing impairment 33 HP:0000407
11 thick eyebrow 33 HP:0000574
12 short stature 33 HP:0004322
13 underdeveloped nasal alae 33 HP:0000430
14 deep philtrum 33 HP:0002002
15 long eyelashes 33 HP:0000527
16 synophrys 33 HP:0000664
17 bifid nasal tip 33 HP:0000456
18 prominent nasal septum 33 HP:0005322

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Growth Height:
short stature

Head And Neck Nose:
bifid nasal tip
broad nasal bridge
prominent nasal septum
hypoplastic nasal alae
bulbous fleshy nose
more
Neurologic Central Nervous System:
mental retardation (in some patients)
hypotonia, generalized (in some patients)

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 Face:
prominent philtrum

Head And Neck Ears:
sensorineural deafness
soft, thick helices and lobules

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

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 30 ATP6V1B2

Anatomical Context for Zimmermann-Laband Syndrome 2

Publications for Zimmermann-Laband Syndrome 2

Variations for Zimmermann-Laband Syndrome 2

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

76
# Symbol AA change Variation ID SNP ID
1 ATP6V1B2 p.Arg485Pro VAR_073962 rs730882177

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP6V1B2 NM_001693.3(ATP6V1B2): c.1454G> C (p.Arg485Pro) single nucleotide variant Pathogenic rs730882177 GRCh38 Chromosome 8, 20220320: 20220320
2 ATP6V1B2 NM_001693.3(ATP6V1B2): c.1454G> C (p.Arg485Pro) single nucleotide variant Pathogenic rs730882177 GRCh37 Chromosome 8, 20077831: 20077831
3 ATP6V1B2 NM_001693.3(ATP6V1B2): c.1120G> C (p.Glu374Gln) single nucleotide variant Likely pathogenic rs1135401772 GRCh37 Chromosome 8, 20073965: 20073965
4 ATP6V1B2 NM_001693.3(ATP6V1B2): c.1120G> C (p.Glu374Gln) single nucleotide variant Likely pathogenic rs1135401772 GRCh38 Chromosome 8, 20216454: 20216454

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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