MCID: ZMM003
MIFTS: 19

Zimmermann-Laband Syndrome 2

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

Aliases & Classifications for Zimmermann-Laband Syndrome 2

MalaCards integrated aliases for Zimmermann-Laband Syndrome 2:

Name: Zimmermann-Laband Syndrome 2 57 75 29 6
Zls2 57 75
Zimmermann-Laband Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
zimmermann-laband syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Zimmermann-Laband Syndrome 2

UniProtKB/Swiss-Prot : 75 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 macroglossia and gingival overgrowth

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Zimmermann-Laband Syndrome 2:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 HP:0000158
2 gingival overgrowth 32 HP:0000212
3 widow's peak 32 occasional (7.5%) HP:0000349
4 sensorineural hearing impairment 32 HP:0000407
5 underdeveloped nasal alae 32 HP:0000430
6 wide nasal bridge 32 HP:0000431
7 bifid nasal tip 32 HP:0000456
8 short neck 32 HP:0000470
9 thick eyebrow 32 HP:0000574
10 synophrys 32 HP:0000664
11 intellectual disability 32 occasional (7.5%) HP:0001249
12 generalized hypotonia 32 occasional (7.5%) HP:0001290
13 deep philtrum 32 HP:0002002
14 kyphosis 32 occasional (7.5%) HP:0002808
15 short stature 32 HP:0004322
16 prominent nasal septum 32 HP:0005322
17 thick vermilion border 32 HP:0012471

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

Publications for Zimmermann-Laband Syndrome 2

Variations for Zimmermann-Laband Syndrome 2

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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