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 54 24 71 29
Zls2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
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 stature, macroglossia 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:

54

Growth- Height:
short stature

Head And Neck- Mouth:
macroglossia
full lips
gingival hyperplasia

Head And Neck- Nose:
broad nasal bridge
hypoplastic nasal alae
bulbous fleshy nose
soft nose cartilage
bifid nasal tip
more
Head And Neck- Face:
prominent philtrum

Skeletal- Spine:
kyphosis (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- Eyes:
thick eyebrows
synophrys
laterally flared eyebrows
thick, long eyelashes

Head And Neck- Neck:
short neck

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)

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

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:

id Genetic test Affiliating Genes
1 Zimmermann-Laband Syndrome 2 29 24 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
id Symbol AA change Variation ID SNP ID
1 ATP6V1B2 p.Arg485Pro VAR_073962 rs730882177

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 2:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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