MCID: ZMM001
MIFTS: 36

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 39
Gingival Fibromatosis-Hepatosplenomegaly-Other Anomalies Syndrome 58
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 KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Transmission across Chemical Synapses. Affiliated tissues include bone and skin, and 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 43)
# Related Disease Score Top Affiliating Genes
1 zimmermann-laband syndrome 1 34.5 KCNH1 ATP6V1B2
2 hypertrichosis 30.7 KCNN3 KCNH1 ATP6V1B2
3 zimmermann-laband syndrome 2 13.1
4 zimmermann-laband syndrome 3 13.1
5 autosomal dominant deafness-onychodystrophy syndrome 11.6
6 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.2
7 fibromatosis 11.0
8 gingival fibromatosis 11.0
9 alacrima, achalasia, and mental retardation syndrome 10.7
10 gingival overgrowth 10.7
11 temple-baraitser syndrome 10.5
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
13 overgrowth syndrome 10.5
14 fibromatosis, gingival, 1 10.4
15 hypertelorism 10.4
16 dowling-degos disease 1 10.4
17 strabismus 10.4
18 teeth, supernumerary 10.4
19 retinitis pigmentosa 10.4
20 branchiootic syndrome 1 10.4
21 polydactyly 10.4
22 patent ductus arteriosus 1 10.4
23 nail disorder, nonsyndromic congenital, 9 10.4
24 portal hypertension, noncirrhotic 10.4
25 brachydactyly 10.4
26 neuroretinitis 10.4
27 portal hypertension 10.4
28 visual epilepsy 10.4
29 biliary atresia 10.4
30 hemangioma 10.4
31 retinitis 10.4
32 cavernous hemangioma 10.4
33 gingival hypertrophy 10.4
34 cataract 10.4
35 learning disability 10.4
36 mechanical strabismus 10.4
37 hypermobile ehlers-danlos syndrome 10.4
38 colpocephaly 10.4
39 hypotonia 10.4
40 seizure disorder 10.4
41 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.4
42 macroglossia 10.0
43 long qt syndrome 2 9.6 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 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
14 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
15 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
16 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
17 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
18 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
19 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
20 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
21 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
22 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
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

MalaCards organs/tissues related to Zimmermann-Laband Syndrome:

40
Bone, Skin

Publications for Zimmermann-Laband Syndrome

Articles related to Zimmermann-Laband Syndrome:

(show all 44)
# 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
Syndromes with gingival fibromatosis: A systematic review. 61
32335995 2020
5
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. 61
31655144 2020
6
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. 61
32560786 2020
7
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. 61
31155282 2019
8
Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients. 61
31275518 2019
9
An Extremely Rare Presentation of Zimmermann-Laband Syndrome in a Twin. 61
30693263 2018
10
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand. 61
29707407 2018
11
Syndromes with supernumerary teeth. 61
27250821 2016
12
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? 61
27282200 2016
13
Epilepsy in KCNH1-related syndromes. 61
27267311 2016
14
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. 61
26818738 2016
15
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. 61
26264464 2015
16
The orthodontic and surgical management of Zimmerman-Laband syndrome. 61
23646327 2013
17
Zimmermann-Laband syndrome: a case report. 61
22838235 2012
18
Current concepts on gingival fibromatosis-related syndromes. 61
25426785 2011
19
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. 61
21626675 2011
20
Wide clinical spectrum in Zimmermann-Laband syndrome. 61
21614982 2011
21
Report of a case of Zimmermann-Laband syndrome with new manifestations. 61
20457511 2010
22
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. 61
20009591 2010
23
Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview. 61
19625955 2009
24
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. 61
17937436 2007
25
The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years. 61
17395066 2007
26
Candidate loci for Zimmermann-Laband syndrome at 3p14.3. 61
17163523 2007
27
[Syndromic gingival fibromatosis]. 61
17195004 2006
28
Ultrastructural investigation of Zimmermann-Laband syndrome. 61
17182434 2006
29
Zimmermann-Laband syndrome in an infant with an atypical histologic finding. 61
16267629 2005
30
Treatment of gingival fibromatosis associated with Zimmermann-Laband syndrome. 61
16171447 2005
31
Zimmermann-Laband syndrome: further clinical delineation. 61
16261693 2005
32
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association? 61
14706033 2004
33
A case of Zimmermann-Laband syndrome with supernumerary teeth. 61
14514238 2003
34
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
35
Zimmerman-Laband syndrome: An unusually early presentation in a newborn girl. 61
9933906 1999
36
Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications. 61
9674908 1998
37
Zimmermann-Laband syndrome in a patient with severe mental retardation. 61
8775419 1995
38
A new case of Zimmermann-Laband syndrome with atypical retinitis pigmentosa. 61
1361289 1992
39
The Zimmermann-Laband syndrome. 61
1740896 1992
40
Hereditary gingival fibromatosis in a family with the Zimmermann-Laband syndrome. 61
1804991 1991
41
A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis. 61
3228149 1988
42
[Analysis of phenotypic variability of Zimmermann-Laband syndrome]. 61
3205658 1988
43
Zimmerman-Laband syndrome and profound mental retardation. 61
3789014 1986
44
Heterogeneity in gingival fibromatosis. 61
4950923 1971

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

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

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.62 KCNH1 CALM1

Sources for Zimmermann-Laband Syndrome

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11 DGIdb
17 EFO
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31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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