MCID: ZMM001
MIFTS: 28

Zimmermann-Laband Syndrome

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

Aliases & Classifications for Zimmermann-Laband Syndrome

MalaCards integrated aliases for Zimmermann-Laband Syndrome:

Name: Zimmermann-Laband Syndrome 59 37 29 13
Gingival Fibromatosis-Hepatosplenomegaly-Other Anomalies Syndrome 59
Zimmerman Laband Syndrome 73
Laband Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
zimmermann-laband syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA3473
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 74 C0796013
KEGG 37 H01573
UMLS 73 C0796013

Summaries for Zimmermann-Laband Syndrome

MalaCards based summary : Zimmermann-Laband Syndrome, also known as gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome, is related to zimmermann-laband syndrome 1 and gingival fibromatosis, and has symptoms including seizures An important gene associated with Zimmermann-Laband Syndrome is KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1), and among its related pathways/superpathways are mTOR signaling pathway (KEGG) and Presenilin-Mediated Signaling.

Wikipedia : 76 Zimmermann–Laband syndrome (ZLS), also known as Laband–Zimmermann syndrome, and Laband\'s syndrome, is... more...

Related Diseases for Zimmermann-Laband Syndrome

Diseases in the Zimmermann-Laband Syndrome family:

Zimmermann-Laband Syndrome 1 Zimmermann-Laband Syndrome 2

Diseases related to Zimmermann-Laband Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 zimmermann-laband syndrome 1 33.7 ATP6V1B2 KCNH1
2 gingival fibromatosis 29.7 ATP6V1B2 KCNH1
3 zimmermann-laband syndrome 2 12.6
4 autosomal dominant deafness-onychodystrophy syndrome 11.3
5 gingivitis 10.4
6 fibromatosis 10.4
7 hypertrichosis 10.3
8 biliary atresia 10.2
9 retinitis 10.2
10 fibromatosis, gingival, 1 10.2
11 teeth, supernumerary 10.2
12 retinitis pigmentosa 10.2
13 leber congenital amaurosis 4 10.2
14 patent ductus arteriosus 1 10.2
15 temple-baraitser syndrome 10.2
16 cataract 10.2
17 brachydactyly 10.2

Graphical network of the top 20 diseases related to Zimmermann-Laband Syndrome:



Diseases related to Zimmermann-Laband Syndrome

Symptoms & Phenotypes for Zimmermann-Laband Syndrome

UMLS symptoms related to Zimmermann-Laband Syndrome:


seizures

Drugs & Therapeutics for Zimmermann-Laband Syndrome

Search Clinical Trials , NIH Clinical Center for Zimmermann-Laband Syndrome

Genetic Tests for Zimmermann-Laband Syndrome

Genetic tests related to Zimmermann-Laband Syndrome:

# Genetic test Affiliating Genes
1 Zimmermann-Laband Syndrome 29

Anatomical Context for Zimmermann-Laband Syndrome

Publications for Zimmermann-Laband Syndrome

Articles related to Zimmermann-Laband Syndrome:

(show all 23)
# Title Authors Year
1
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? ( 27282200 )
2016
2
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. ( 25915598 )
2015
3
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. ( 23994350 )
2013
4
Zimmermann-Laband syndrome: a case report. ( 22838235 )
2012
5
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. ( 21626675 )
2011
6
Wide clinical spectrum in Zimmermann-Laband syndrome. ( 21614982 )
2011
7
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. ( 20009591 )
2010
8
Report of a case of Zimmermann-Laband syndrome with new manifestations. ( 20457511 )
2010
9
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. ( 18541964 )
2008
10
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. ( 17937436 )
2007
11
Candidate loci for Zimmermann-Laband syndrome at 3p14.3. ( 17163523 )
2007
12
Ultrastructural investigation of Zimmermann-Laband syndrome. ( 17182434 )
2006
13
Zimmermann-Laband syndrome: further clinical delineation. ( 16261693 )
2005
14
Zimmermann-Laband syndrome in an infant with an atypical histologic finding. ( 16267629 )
2005
15
Treatment of gingival fibromatosis associated with Zimmermann-Laband syndrome. ( 16171447 )
2005
16
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association? ( 14706033 )
2004
17
Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions. ( 12599195 )
2003
18
A case of Zimmermann-Laband syndrome with supernumerary teeth. ( 14514238 )
2003
19
Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications. ( 9674908 )
1998
20
Zimmermann-Laband syndrome in a patient with severe mental retardation. ( 8775419 )
1995
21
A new case of Zimmermann-Laband syndrome with atypical retinitis pigmentosa. ( 1361289 )
1992
22
Hereditary gingival fibromatosis in a family with the Zimmermann-Laband syndrome. ( 1804991 )
1991
23
A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis. ( 3228149 )
1988

Variations for Zimmermann-Laband Syndrome

Expression for Zimmermann-Laband Syndrome

Search GEO for disease gene expression data for Zimmermann-Laband Syndrome.

Pathways for Zimmermann-Laband Syndrome

Pathways related to Zimmermann-Laband Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.42 ATP6V1B2 WNT5A
2 10.78 CACNA2D3 WNT5A

GO Terms for Zimmermann-Laband Syndrome

Biological processes related to Zimmermann-Laband Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.16 CACNA2D3 KCNH1
2 ion transport GO:0006811 9.13 ATP6V1B2 CACNA2D3 KCNH1
3 cellular response to calcium ion GO:0071277 8.62 KCNH1 WNT5A

Molecular functions related to Zimmermann-Laband Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 8.62 CACNA2D3 KCNH1

Sources for Zimmermann-Laband Syndrome

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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