MCID: ZMM001
MIFTS: 33

Zimmermann-Laband Syndrome

Categories: Ear diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases, Smell/Taste diseases
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Aliases & Classifications for Zimmermann-Laband Syndrome

MalaCards integrated aliases for Zimmermann-Laband Syndrome:

Name: Zimmermann-Laband Syndrome 58 28 75
Gingival Fibromatosis-Hepatosplenomegaly-Other Anomalies Syndrome 58
Zimmerman Laband Syndrome 71
Laband Syndrome 58

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

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


Summaries for Zimmermann-Laband Syndrome

Orphanet: 58 A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

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 is Potassium Channels. Affiliated tissues include skin, and related phenotypes are gingival fibromatosis and intellectual disability

Wikipedia: 75 Zimmermann-Laband syndrome (ZLS) is two different conditions (ZLS, type 1 and ZLS, type 2) that share... 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 32.1 KCNH1 ATP6V1B2
2 hypertrichosis 30.0 KCNN3 KCNH1 ATP6V1B2
3 zimmermann-laband syndrome 3 11.9
4 zimmermann-laband syndrome 2 11.8
5 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.0
6 fibromatosis 10.8
7 gingival fibromatosis 10.8
8 gingival overgrowth 10.7
9 overgrowth syndrome 10.5
10 nail disorder, nonsyndromic congenital, 4 10.4
11 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
12 gingival hypertrophy 10.3
13 fibromatosis, gingival, 1 10.2
14 smith-magenis syndrome 10.2
15 strabismus 10.2
16 teeth, supernumerary 10.2
17 biliary atresia, extrahepatic 10.2
18 hemihyperplasia, isolated 10.2
19 cantu syndrome 10.2
20 retinitis pigmentosa 10.2
21 polydactyly 10.2
22 patent ductus arteriosus 1 10.2
23 temple-baraitser syndrome 10.2
24 nail disorder, nonsyndromic congenital, 9 10.2
25 portal hypertension, noncirrhotic, 1 10.2
26 clark-baraitser syndrome 10.2
27 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 10.2
28 brachydactyly 10.2
29 portal hypertension 10.2
30 visual epilepsy 10.2
31 biliary atresia 10.2
32 hemangioma 10.2
33 retinitis 10.2
34 cavernous hemangioma 10.2
35 cataract 10.2
36 learning disability 10.2
37 hypermobile ehlers-danlos syndrome 10.2
38 colpocephaly 10.2
39 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.2
40 macroglossia 9.9

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

Anatomical Context for Zimmermann-Laband Syndrome

Organs/tissues related to Zimmermann-Laband Syndrome:

MalaCards : Skin

Publications for Zimmermann-Laband Syndrome

Articles related to Zimmermann-Laband Syndrome:

(show top 50) (show all 61)
# Title Authors PMID Year
1
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype. 62
36135319 2022
2
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis. 62
35639255 2022
3
Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels. 62
35715699 2022
4
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. 62
33811134 2022
5
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant. 62
34907639 2022
6
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes. 62
34232384 2022
7
Channelopathy-causing mutations in the S45A/S45B and HA/HB helices of KCa2.3 and KCa3.1 channels alter their apparent Ca2+ sensitivity. 62
35030515 2022
8
Syndromes with gingival fibromatosis: A systematic review. 62
32335995 2021
9
Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux. 62
34746137 2021
10
CantĂș syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants. 62
32622958 2020
11
ATP6V1B2-related epileptic encephalopathy. 62
32597767 2020
12
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. 62
31655144 2020
13
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. 62
32560786 2020
14
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. 62
31155282 2019
15
Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients. 62
31275518 2019
16
An Extremely Rare Presentation of Zimmermann-Laband Syndrome in a Twin. 62
30693263 2018
17
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand. 62
29707407 2018
18
Syndromes with supernumerary teeth. 62
27250821 2016
19
Epilepsy in KCNH1-related syndromes. 62
27267311 2016
20
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? 62
27282200 2016
21
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. 62
26818738 2016
22
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. 62
26264464 2015
23
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. 62
25915598 2015
24
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. 62
23994350 2013
25
The orthodontic and surgical management of Zimmerman-Laband syndrome. 62
23646327 2013
26
Zimmermann-Laband syndrome: a case report. 62
22838235 2012
27
Current concepts on gingival fibromatosis-related syndromes. 62
25426785 2011
28
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. 62
21626675 2011
29
Wide clinical spectrum in Zimmermann-Laband syndrome. 62
21614982 2011
30
Report of a case of Zimmermann-Laband syndrome with new manifestations. 62
20457511 2010
31
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. 62
20009591 2010
32
Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview. 62
19625955 2009
33
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. 62
18541964 2008
34
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. 62
17937436 2007
35
The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years. 62
17395066 2007
36
Candidate loci for Zimmermann-Laband syndrome at 3p14.3. 62
17163523 2007
37
[Syndromic gingival fibromatosis]. 62
17195004 2006
38
Ultrastructural investigation of Zimmermann-Laband syndrome. 62
17182434 2006
39
Zimmermann-Laband syndrome in an infant with an atypical histologic finding. 62
16267629 2005
40
Treatment of gingival fibromatosis associated with Zimmermann-Laband syndrome. 62
16171447 2005
41
Zimmermann-Laband syndrome: further clinical delineation. 62
16261693 2005
42
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association? 62
14706033 2004
43
A case of Zimmermann-Laband syndrome with supernumerary teeth. 62
14514238 2003
44
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. 62
12599195 2003
45
Hereditary gingival fibromatosis with distinct dental, skeletal and developmental abnormalities. 62
12064501 2002
46
Zimmerman-Laband syndrome: An unusually early presentation in a newborn girl. 62
9933906 1999
47
Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications. 62
9674908 1998
48
Zimmermann-Laband syndrome in a patient with severe mental retardation. 62
8775419 1995
49
Laband syndrome. Report of two cases, review of the literature, and identification of additional manifestations. 62
8078665 1994
50
Congenital marked hypertrichosis and Laband syndrome in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes. 62
7811425 1994

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
10.82 KCNN3 KCNH1

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 neuronal cell body GO:0043025 8.8 KCNN3 KCNH1

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

# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.46 KCNN3 KCNH1
2 potassium ion transport GO:0006813 9.13 KCNN3 KCNH1
3 monoatomic ion transport GO:0006811 8.92 KCNN3 KCNH1 ATP6V1B2

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 8.92 KCNN3 KCNH1

Sources for Zimmermann-Laband Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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