MCID: ZMM003
MIFTS: 19

Zimmermann-Laband Syndrome 2

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

Aliases & Classifications for Zimmermann-Laband Syndrome 2

MalaCards integrated aliases for Zimmermann-Laband Syndrome 2:

Name: Zimmermann-Laband Syndrome 2 53 71 28
Zls2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
zimmermann-laband syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Zimmermann-Laband Syndrome 2

UniProtKB/Swiss-Prot : 71 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, and has symptoms including short neck, intellectual disability and kyphosis. An important gene associated with Zimmermann-Laband Syndrome 2 is ATP6V1B2 (ATPase H+ Transporting V1 Subunit B2).

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:

53
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:

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

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

Variations for Zimmermann-Laband Syndrome 2

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

71
# 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.1120G> C (p.Glu374Gln) single nucleotide variant Likely pathogenic rs1135401772 GRCh37 Chromosome 8, 20073965: 20073965

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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