MCID: ZMM001
MIFTS: 39

Zimmermann-Laband Syndrome

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

Aliases & Classifications for Zimmermann-Laband Syndrome

MalaCards integrated aliases for Zimmermann-Laband Syndrome:

Name: Zimmermann-Laband Syndrome 58 36 29
Gingival Fibromatosis-Hepatosplenomegaly-Other Anomalies Syndrome 58
Syndrome, Zimmermann-Laband 39
Zimmerman Laband Syndrome 71
Laband Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
zimmermann-laband syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Zimmermann-Laband Syndrome

KEGG : 36 Zimmermann-Laband syndrome (ZLS) is a rare craniofacial malformation syndrome with predominant intraoral involvement consisting in diffuse gingival fibromatosis of early onset. Most cases are sporadic, suggesting autosomal dominant inheritance with de novo mutations. The main clinical characteristics of ZLS are gingival enlargement, prominent nose and thick ears with soft cartilages, nail aplasia or hypoplasia, hypertrichosis, joint hyperextensibility, hepato(spleno)megaly, and intellectual disability with or without epilepsy. Mutations in KCNH1 and ATP6V1B2 account for a proportion of ZLS.

MalaCards based summary : Zimmermann-Laband Syndrome, also known as gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome, is related to zimmermann-laband syndrome 1 and hypertrichosis, and has symptoms including seizures An important gene associated with Zimmermann-Laband Syndrome is ATP6V1B2 (ATPase H+ Transporting V1 Subunit B2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Transmission across Chemical Synapses. Related phenotypes are gingival fibromatosis and intellectual disability

Wikipedia : 74 Zimmermann-Laband syndrome (ZLS), is an extremely rare autosomal dominant congenital... more...

Related Diseases for Zimmermann-Laband Syndrome

Diseases in the Zimmermann-Laband Syndrome family:

Zimmermann-Laband Syndrome 1 Zimmermann-Laband Syndrome 2
Zimmermann-Laband Syndrome 3

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 zimmermann-laband syndrome 1 32.7 KCNH1 ATP6V1B2
2 hypertrichosis 30.6 KCNN3 KCNH1 ATP6V1B2
3 zimmermann-laband syndrome 3 11.9
4 zimmermann-laband syndrome 2 11.8
5 autosomal dominant deafness-onychodystrophy syndrome 11.3
6 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.0
7 fibromatosis 10.7
8 gingival fibromatosis 10.7
9 alacrima, achalasia, and mental retardation syndrome 10.5
10 gingival overgrowth 10.5
11 overgrowth syndrome 10.4
12 fibromatosis, gingival, 1 10.2
13 dowling-degos disease 1 10.2
14 strabismus 10.2
15 teeth, supernumerary 10.2
16 retinitis pigmentosa 10.2
17 branchiootic syndrome 1 10.2
18 polydactyly 10.2
19 patent ductus arteriosus 1 10.2
20 temple-baraitser syndrome 10.2
21 nail disorder, nonsyndromic congenital, 9 10.2
22 portal hypertension, noncirrhotic 10.2
23 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 10.2
24 brachydactyly 10.2
25 neuroretinitis 10.2
26 portal hypertension 10.2
27 biliary atresia 10.2
28 hemangioma 10.2
29 retinitis 10.2
30 cavernous hemangioma 10.2
31 gingival hypertrophy 10.2
32 cataract 10.2
33 learning disability 10.2
34 mechanical strabismus 10.2
35 hypermobile ehlers-danlos syndrome 10.2
36 colpocephaly 10.2
37 seizure disorder 10.2
38 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.2
39 macroglossia 9.9
40 long qt syndrome 2 9.7 KCNH1 CALM1

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



Diseases related to Zimmermann-Laband Syndrome

Symptoms & Phenotypes for Zimmermann-Laband Syndrome

Human phenotypes related to Zimmermann-Laband Syndrome:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival fibromatosis 58 31 obligate (100%) Obligate (100%) HP:0000169
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
4 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382
5 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
6 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
7 hypoplastic fingernail 58 31 frequent (33%) Frequent (79-30%) HP:0001804
8 absent fingernail 58 31 frequent (33%) Frequent (79-30%) HP:0001817
9 generalized hypertrichosis 58 31 frequent (33%) Frequent (79-30%) HP:0004554
10 thickened ears 58 31 frequent (33%) Frequent (79-30%) HP:0009894
11 large fleshy ears 58 31 frequent (33%) Frequent (79-30%) HP:0002265
12 anterior open-bite malocclusion 58 31 frequent (33%) Frequent (79-30%) HP:0009102
13 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
14 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
15 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
16 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
17 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
18 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
19 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
20 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
21 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
22 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
23 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
24 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
25 increased number of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0011069
26 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
27 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
28 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001822
29 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
30 long eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000527
31 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
32 abnormality of cardiovascular system morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030680
33 abnormal external genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000811
34 soft skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000977
35 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
36 facial hypertrichosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002219
37 seizure 31 occasional (7.5%) HP:0001250
38 sensorineural hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000407
39 generalized hyperpigmentation 58 31 very rare (1%) Very rare (<4-1%) HP:0007440
40 deep plantar creases 58 31 very rare (1%) Very rare (<4-1%) HP:0001869
41 deep palmar crease 58 31 very rare (1%) Very rare (<4-1%) HP:0006191
42 overtubulated long bones 58 31 very rare (1%) Very rare (<4-1%) HP:0006391
43 seizures 58 Occasional (29-5%)
44 cleft palate 58 Occasional (29-5%)

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 46)
# Title Authors PMID Year
1
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. 61 6
25915598 2015
2
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. 6 61
23994350 2013
3
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. 6 61
18541964 2008
4
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants. 61
32622958 2020
5
ATP6V1B2-related epileptic encephalopathy. 61
32597767 2020
6
Syndromes with gingival fibromatosis: A systematic review. 61
32335995 2020
7
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. 61
31655144 2020
8
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. 61
32560786 2020
9
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. 61
31155282 2019
10
Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients. 61
31275518 2019
11
An Extremely Rare Presentation of Zimmermann-Laband Syndrome in a Twin. 61
30693263 2018
12
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand. 61
29707407 2018
13
Syndromes with supernumerary teeth. 61
27250821 2016
14
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? 61
27282200 2016
15
Epilepsy in KCNH1-related syndromes. 61
27267311 2016
16
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. 61
26818738 2016
17
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. 61
26264464 2015
18
The orthodontic and surgical management of Zimmerman-Laband syndrome. 61
23646327 2013
19
Zimmermann-Laband syndrome: a case report. 61
22838235 2012
20
Current concepts on gingival fibromatosis-related syndromes. 61
25426785 2011
21
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. 61
21626675 2011
22
Wide clinical spectrum in Zimmermann-Laband syndrome. 61
21614982 2011
23
Report of a case of Zimmermann-Laband syndrome with new manifestations. 61
20457511 2010
24
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. 61
20009591 2010
25
Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview. 61
19625955 2009
26
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. 61
17937436 2007
27
The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years. 61
17395066 2007
28
Candidate loci for Zimmermann-Laband syndrome at 3p14.3. 61
17163523 2007
29
[Syndromic gingival fibromatosis]. 61
17195004 2006
30
Ultrastructural investigation of Zimmermann-Laband syndrome. 61
17182434 2006
31
Zimmermann-Laband syndrome in an infant with an atypical histologic finding. 61
16267629 2005
32
Treatment of gingival fibromatosis associated with Zimmermann-Laband syndrome. 61
16171447 2005
33
Zimmermann-Laband syndrome: further clinical delineation. 61
16261693 2005
34
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association? 61
14706033 2004
35
A case of Zimmermann-Laband syndrome with supernumerary teeth. 61
14514238 2003
36
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. 61
12599195 2003
37
Zimmerman-Laband syndrome: An unusually early presentation in a newborn girl. 61
9933906 1999
38
Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications. 61
9674908 1998
39
Zimmermann-Laband syndrome in a patient with severe mental retardation. 61
8775419 1995
40
A new case of Zimmermann-Laband syndrome with atypical retinitis pigmentosa. 61
1361289 1992
41
The Zimmermann-Laband syndrome. 61
1740896 1992
42
Hereditary gingival fibromatosis in a family with the Zimmermann-Laband syndrome. 61
1804991 1991
43
A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis. 61
3228149 1988
44
[Analysis of phenotypic variability of Zimmermann-Laband syndrome]. 61
3205658 1988
45
Zimmerman-Laband syndrome and profound mental retardation. 61
3789014 1986
46
Heterogeneity in gingival fibromatosis. 61
4950923 1971

Variations for Zimmermann-Laband Syndrome

ClinVar genetic disease variations for Zimmermann-Laband Syndrome:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNH1 NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val) SNV Pathogenic 183416 rs730882176 1:211093309-211093309 1:210919967-210919967
2 KCNH1 NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu) SNV Pathogenic 203434 rs730882173 1:211093297-211093297 1:210919955-210919955
3 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro) SNV Pathogenic 183414 rs730882177 8:20077831-20077831 8:20220320-20220320
4 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro) SNV Pathogenic 183414 rs730882177 8:20077831-20077831 8:20220320-20220320
5 KCNH1 NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg) SNV Pathogenic 183415 rs730882174 1:211093321-211093321 1:210919979-210919979
6 KCNH1 NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu) SNV Pathogenic 183417 rs730882173 1:211093297-211093297 1:210919955-210919955
7 KCNH1 NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) SNV Pathogenic 183418 rs730882175 1:210977485-210977485 1:210804143-210804143
8 KCNH1 NM_172362.3(KCNH1):c.1055C>A (p.Ser352Tyr) SNV Pathogenic 183419 rs730882172 1:211093389-211093389 1:210920047-210920047
9 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1465A>T (p.Lys489Ter) SNV Pathogenic 634920 rs1585256207 8:20077842-20077842 8:20220331-20220331
10 KCNH1 NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) SNV Pathogenic 279981 rs886041300 1:211093374-211093374 1:210920032-210920032
11 KCNH1 NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) SNV Pathogenic 162520 rs727502819 1:210977491-210977491 1:210804149-210804149
12 KCNH1 NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) SNV Pathogenic 162520 rs727502819 1:210977491-210977491 1:210804149-210804149
13 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln) SNV Likely pathogenic 431094 rs1135401772 8:20073965-20073965 8:20216454-20216454
14 KCNH1 NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala) SNV Uncertain significance 587447 rs1558526097 1:211093410-211093410 1:210920068-210920068
15 KCNH1 NM_172362.3(KCNH1):c.1958C>T (p.Thr653Ile) SNV Uncertain significance 930362 1:210948844-210948844 1:210775502-210775502
16 KCNH1 NM_172362.3(KCNH1):c.1717C>T (p.Arg573Cys) SNV Uncertain significance 930399 1:210971048-210971048 1:210797706-210797706
17 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1437T>G (p.Ile479Met) SNV Uncertain significance 930988 8:20077814-20077814 8:20220303-20220303

Expression for Zimmermann-Laband Syndrome

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

Pathways for Zimmermann-Laband Syndrome

GO Terms for Zimmermann-Laband Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.43 WNT5A KCNN3 KCNH1 CALM1 CACNA2D3 ATP6V1B2
2 voltage-gated potassium channel complex GO:0008076 8.62 KCNH1 CALM1

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to calcium ion GO:0071277 9.26 WNT5A KCNH1
2 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.16 WNT5A CALM1
3 positive regulation of peptidyl-threonine phosphorylation GO:0010800 8.96 WNT5A CALM1
4 ion transport GO:0006811 8.92 KCNN3 KCNH1 CACNA2D3 ATP6V1B2

Sources for Zimmermann-Laband Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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