ZLS1
MCID: ZMM002
MIFTS: 37

Zimmermann-Laband Syndrome 1 (ZLS1)

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 1

MalaCards integrated aliases for Zimmermann-Laband Syndrome 1:

Name: Zimmermann-Laband Syndrome 1 57 73 28 5
Laband Syndrome 57 19 73
Fibromatosis, Gingival, with Abnormal Fingers, Fingernails, Nose, and Ears, and Splenomegaly 57 73
Zimmerman Laband Syndrome 19 71
Zls1 57 73
Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose and Ears, and Splenomegaly 19
Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose and Ears and Splenomegaly 73
Fibromatosis Gingival, Hepatosplenomegaly Other Anomalies 19
Zimmermann Laband Syndrome 73
Zimmerman-Laband Syndrome 75
Zls 19

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
majority of cases are sporadic


Classifications:



Summaries for Zimmermann-Laband Syndrome 1

UniProtKB/Swiss-Prot: 73 A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS1 inheritance is autosomal dominant.

MalaCards based summary: Zimmermann-Laband Syndrome 1, also known as laband syndrome, is related to zimmermann-laband syndrome and hypertrichosis, and has symptoms including seizures An important gene associated with Zimmermann-Laband Syndrome 1 is KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1). Affiliated tissues include skin, and related phenotypes are hearing impairment and nephrolithiasis

OMIM®: 57 Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by Balasubramanian and Parker, 2010). (135500) (Updated 08-Dec-2022)

GARD: 19 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.

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 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 zimmermann-laband syndrome 31.9 KCNH1 ATP6V1B2
2 hypertrichosis 30.1 KCNH1 ATP6V1B2
3 zimmermann-laband syndrome 2 11.6
4 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.0
5 zimmermann-laband syndrome 3 11.0
6 fibromatosis 10.6
7 gingival fibromatosis 10.5
8 gingival overgrowth 10.5
9 overgrowth syndrome 10.2
10 nail disorder, nonsyndromic congenital, 4 10.2
11 hair whorl 10.1
12 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
13 gingival hypertrophy 10.1
14 glass syndrome 10.0
15 fibromatosis, gingival, 1 9.9
16 macroglossia 9.9
17 smith-magenis syndrome 9.9
18 strabismus 9.9
19 teeth, supernumerary 9.9
20 biliary atresia, extrahepatic 9.9
21 hemihyperplasia, isolated 9.9
22 cantu syndrome 9.9
23 retinitis pigmentosa 9.9
24 polydactyly 9.9
25 patent ductus arteriosus 1 9.9
26 temple-baraitser syndrome 9.9
27 nail disorder, nonsyndromic congenital, 9 9.9
28 portal hypertension, noncirrhotic, 1 9.9
29 clark-baraitser syndrome 9.9
30 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 9.9
31 brachydactyly 9.9
32 portal hypertension 9.9
33 visual epilepsy 9.9
34 biliary atresia 9.9
35 hemangioma 9.9
36 retinitis 9.9
37 cavernous hemangioma 9.9
38 cataract 9.9
39 learning disability 9.9
40 hypermobile ehlers-danlos syndrome 9.9
41 colpocephaly 9.9
42 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.9
43 epilepsy 9.5 KCNH1 ATP6V1B2

Graphical network of the top 20 diseases related to Zimmermann-Laband Syndrome 1:



Diseases related to Zimmermann-Laband Syndrome 1

Symptoms & Phenotypes for Zimmermann-Laband Syndrome 1

Human phenotypes related to Zimmermann-Laband Syndrome 1:

30 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 30 Occasional (7.5%) HP:0000365
2 nephrolithiasis 30 Occasional (7.5%) HP:0000787
3 intellectual disability, progressive 30 Occasional (7.5%) HP:0006887
4 macrocephaly 30 Very rare (1%) HP:0000256
5 seizure 30 Very rare (1%) HP:0001250
6 scoliosis 30 Very rare (1%) HP:0002650
7 hypotonia 30 Very rare (1%) HP:0001252
8 coarse facial features 30 Very rare (1%) HP:0000280
9 gingival overgrowth 30 Very rare (1%) HP:0000212
10 thick vermilion border 30 Very rare (1%) HP:0012471
11 thick eyebrow 30 Very rare (1%) HP:0000574
12 gastroesophageal reflux 30 Very rare (1%) HP:0002020
13 intellectual disability, severe 30 Very rare (1%) HP:0010864
14 full cheeks 30 Very rare (1%) HP:0000293
15 low-set ears 30 Very rare (1%) HP:0000369
16 dolichocephaly 30 Very rare (1%) HP:0000268
17 downturned corners of mouth 30 Very rare (1%) HP:0002714
18 highly arched eyebrow 30 Very rare (1%) HP:0002553
19 long philtrum 30 Very rare (1%) HP:0000343
20 low anterior hairline 30 Very rare (1%) HP:0000294
21 short philtrum 30 Very rare (1%) HP:0000322
22 wide mouth 30 Very rare (1%) HP:0000154
23 broad forehead 30 Very rare (1%) HP:0000337
24 high forehead 30 Very rare (1%) HP:0000348
25 short distal phalanx of finger 30 Very rare (1%) HP:0009882
26 thick hair 30 Very rare (1%) HP:0100874
27 oculomotor apraxia 30 Very rare (1%) HP:0000657
28 hirsutism 30 Very rare (1%) HP:0001007
29 broad nasal tip 30 Very rare (1%) HP:0000455
30 small nail 30 Very rare (1%) HP:0001792
31 anonychia 30 Very rare (1%) HP:0001798
32 short distal phalanx of toe 30 Very rare (1%) HP:0001857
33 horizontal nystagmus 30 Very rare (1%) HP:0000666
34 high palate 30 HP:0000218
35 cataract 30 HP:0000518
36 splenomegaly 30 HP:0001744
37 hepatomegaly 30 HP:0002240
38 mandibular prognathia 30 HP:0000303
39 wide nasal bridge 30 HP:0000431
40 umbilical hernia 30 HP:0001537
41 myopia 30 HP:0000545
42 delayed eruption of teeth 30 HP:0000684
43 patent ductus arteriosus 30 HP:0001643
44 spina bifida occulta 30 HP:0003298
45 synophrys 30 HP:0000664
46 long penis 30 HP:0000040
47 cardiomyopathy 30 HP:0001638
48 posteriorly rotated ears 30 HP:0000358
49 aortic root aneurysm 30 HP:0002616
50 gingival fibromatosis 30 HP:0000169

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
spina bifida occulta

Abdomen Spleen:
splenomegaly

Abdomen External Features:
umbilical hernia

Cardiovascular Vascular:
patent ductus arteriosus
aortic root dilatation
aortic arch dilatation

Cardiovascular Heart:
cardiomyopathy

Head And Neck Mouth:
gingival fibromatosis
high-arched palate
thick lips
gingival hyperplasia

Skin Nails Hair Nails:
hypoplastic nails

Head And Neck Face:
coarse facies
prominent mandible

Genitourinary External Genitalia Male:
enlarged penis

Skeletal Hands:
hyperextensible fingers
hypoplastic distal phalanges

Skin Nails Hair Skin:
dry, thick skin

Metabolic Features:
diabetes, nonautoimmune (rare)

Neurologic Central Nervous System:
hypotonia
seizures
mental retardation, severe in some patients

Abdomen Liver:
hepatomegaly
extrahepatic biliary atresia (rare)

Head And Neck Eyes:
myopia
synophrys
thick eyebrows
cataracts

Skin Nails Hair Hair:
synophrys
hirsutism
hypertrichosis
thick eyebrows

Head And Neck Ears:
posteriorly rotated ears
long, lobulated ears
hearing loss, bilateral sensorineural (rare)

Head And Neck Nose:
broad nasal bridge
fleshy nose

Head And Neck Teeth:
delayed tooth eruption

Growth Weight:
birthweight greater than 90th percentile

Genitourinary Kidneys:
renal calculi (rare)

Skeletal Feet:
hypoplastic distal phalanges

Muscle Soft Tissue:
poor muscle bulk

Clinical features from OMIM®:

135500 (Updated 08-Dec-2022)

UMLS symptoms related to Zimmermann-Laband Syndrome 1:


seizures

Drugs & Therapeutics for Zimmermann-Laband Syndrome 1

Search Clinical Trials, NIH Clinical Center for Zimmermann-Laband Syndrome 1

Genetic Tests for Zimmermann-Laband Syndrome 1

Genetic tests related to Zimmermann-Laband Syndrome 1:

# Genetic test Affiliating Genes
1 Zimmermann-Laband Syndrome 1 28 KCNH1

Anatomical Context for Zimmermann-Laband Syndrome 1

Organs/tissues related to Zimmermann-Laband Syndrome 1:

MalaCards : Skin

Publications for Zimmermann-Laband Syndrome 1

Articles related to Zimmermann-Laband Syndrome 1:

(show top 50) (show all 73)
# Title Authors PMID Year
1
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. 62 57 5
25915598 2015
2
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. 62 57 5
23994350 2013
3
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. 62 57 5
18541964 2008
4
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. 62 57
21626675 2011
5
Wide clinical spectrum in Zimmermann-Laband syndrome. 62 57
21614982 2011
6
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. 62 57
20009591 2010
7
Candidate loci for Zimmermann-Laband syndrome at 3p14.3. 62 57
17163523 2007
8
Zimmermann-Laband syndrome: further clinical delineation. 62 57
16261693 2005
9
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association? 62 57
14706033 2004
10
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 57
12599195 2003
11
Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications. 62 57
9674908 1998
12
Zimmermann-Laband syndrome in a patient with severe mental retardation. 62 57
8775419 1995
13
A new case of Zimmermann-Laband syndrome with atypical retinitis pigmentosa. 62 57
1361289 1992
14
The Zimmermann-Laband syndrome. 62 57
1740896 1992
15
A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis. 62 57
3228149 1988
16
Zimmerman-Laband syndrome and profound mental retardation. 62 57
3789014 1986
17
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. 5
33619735 2021
18
Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome? 57
15930899 2005
19
Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity. 57
12503107 2003
20
Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition? 57
11102931 2000
21
Sibs with developmental delay, hirsutism and nail hypoplasia: a new syndrome. 57
11045578 2000
22
Growth deficiency, mental retardation and unusual facies. 57
10826636 2000
23
Elephantiasis gingivae. Report of an affected family with associated hepatomegaly, soft tissue & skeletal abnormalities. 57
5216911 1965
24
HEREDITARY GINGIVAL FIBROMATOSIS. REPORT OF AN AFFECTED FAMILY WITH ASSOCIATED SPLENOMEGALY AND SKELETAL AND SOFT-TISSUE ABNORMALITIES. 57
14130237 1964
25
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype. 62
36135319 2022
26
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis. 62
35639255 2022
27
Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels. 62
35715699 2022
28
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. 62
33811134 2022
29
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes. 62
34232384 2022
30
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
31
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
32
Syndromes with gingival fibromatosis: A systematic review. 62
32335995 2021
33
Minimal tooth preparation for posterior monolithic ceramic crowns: Effect on the mechanical behavior, reliability and translucency. 62
33246664 2021
34
Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux. 62
34746137 2021
35
Effect of microwave crystallization on the wear resistance of reinforced glass-ceramics. 62
32750672 2020
36
CantĂș syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants. 62
32622958 2020
37
ATP6V1B2-related epileptic encephalopathy. 62
32597767 2020
38
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. 62
31655144 2020
39
Three-body wear effect on different CAD/CAM ceramics staining durability. 62
32090908 2020
40
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. 62
32560786 2020
41
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. 62
31155282 2019
42
Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients. 62
31275518 2019
43
Fatigue behavior of ultrafine tabletop ceramic restorations. 62
29934124 2018
44
An Extremely Rare Presentation of Zimmermann-Laband Syndrome in a Twin. 62
30693263 2018
45
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand. 62
29707407 2018
46
Syndromes with supernumerary teeth. 62
27250821 2016
47
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? 62
27282200 2016
48
Epilepsy in KCNH1-related syndromes. 62
27267311 2016
49
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. 62
26818738 2016
50
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. 62
26264464 2015

Variations for Zimmermann-Laband Syndrome 1

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 1:

5 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNH1 NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val) SNV Pathogenic
183416 rs730882176 GRCh37: 1:211093309-211093309
GRCh38: 1:210919967-210919967
2 KCNH1 NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu) SNV Pathogenic
203434 rs730882173 GRCh37: 1:211093297-211093297
GRCh38: 1:210919955-210919955
3 KCNH1 NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) SNV Pathogenic
279981 rs886041300 GRCh37: 1:211093374-211093374
GRCh38: 1:210920032-210920032
4 KCNH1 NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) SNV Pathogenic
Pathogenic
162520 rs727502819 GRCh37: 1:210977491-210977491
GRCh38: 1:210804149-210804149
5 KCNH1 NM_172362.3(KCNH1):c.1055C>A (p.Ser352Tyr) SNV Pathogenic
183419 rs730882172 GRCh37: 1:211093389-211093389
GRCh38: 1:210920047-210920047
6 KCNH1 NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) SNV Pathogenic
183418 rs730882175 GRCh37: 1:210977485-210977485
GRCh38: 1:210804143-210804143
7 KCNH1 NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu) SNV Pathogenic
183417 rs730882173 GRCh37: 1:211093297-211093297
GRCh38: 1:210919955-210919955
8 KCNH1 NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg) SNV Pathogenic
183415 rs730882174 GRCh37: 1:211093321-211093321
GRCh38: 1:210919979-210919979
9 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro) SNV Pathogenic
183414 rs730882177 GRCh37: 8:20077831-20077831
GRCh38: 8:20220320-20220320
10 KCNH1 NM_172362.3(KCNH1):c.1559G>A (p.Arg520Gln) SNV Likely Pathogenic
1034355 rs1684483227 GRCh37: 1:210977412-210977412
GRCh38: 1:210804070-210804070
11 KCNH1 NM_172362.3(KCNH1):c.2859_2861delinsTAC (p.Glu953_Ile954delinsAspThr) INDEL Uncertain Significance
1034356 rs1681322266 GRCh37: 1:210856732-210856734
GRCh38: 1:210683390-210683392
12 KCNH1 NM_172362.3(KCNH1):c.1958C>T (p.Thr653Ile) SNV Uncertain Significance
930362 rs1683842802 GRCh37: 1:210948844-210948844
GRCh38: 1:210775502-210775502
13 KCNH1 NM_172362.3(KCNH1):c.1717C>T (p.Arg573Cys) SNV Uncertain Significance
930399 rs1684345922 GRCh37: 1:210971048-210971048
GRCh38: 1:210797706-210797706
14 KCNH1 NM_172362.3(KCNH1):c.2482G>A (p.Gly828Arg) SNV Uncertain Significance
1216384 GRCh37: 1:210857111-210857111
GRCh38: 1:210683769-210683769
15 KCNH1 NM_172362.3(KCNH1):c.1180G>A (p.Ala394Thr) SNV Uncertain Significance
1339058 GRCh37: 1:211093264-211093264
GRCh38: 1:210919922-210919922
16 KCNH1 NM_172362.3(KCNH1):c.544T>A (p.Ser182Thr) SNV Uncertain Significance
1319807 GRCh37: 1:211256136-211256136
GRCh38: 1:211082794-211082794
17 KCNH1 NM_172362.3(KCNH1):c.2658G>C (p.Lys886Asn) SNV Uncertain Significance
1706444 GRCh37: 1:210856935-210856935
GRCh38: 1:210683593-210683593
18 KCNH1 NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala) SNV Uncertain Significance
587447 rs1558526097 GRCh37: 1:211093410-211093410
GRCh38: 1:210920068-210920068
19 KCNH1 NM_172362.3(KCNH1):c.80-6del DEL Benign
1206068 GRCh37: 1:211280725-211280725
GRCh38: 1:211107383-211107383
20 KCNH1 NM_172362.3(KCNH1):c.2136T>C (p.Asp712=) SNV Benign
1243506 GRCh37: 1:210857457-210857457
GRCh38: 1:210684115-210684115

UniProtKB/Swiss-Prot genetic disease variations for Zimmermann-Laband Syndrome 1:

73
# Symbol AA change Variation ID SNP ID
1 KCNH1 p.Ile494Val VAR_072614 rs727502819
2 KCNH1 p.Ser352Tyr VAR_073957 rs730882172
3 KCNH1 p.Gly375Arg VAR_073958 rs730882174
4 KCNH1 p.Leu379Val VAR_073959 rs730882176
5 KCNH1 p.Val383Leu VAR_073960 rs730882173
6 KCNH1 p.Gly496Arg VAR_073961 rs730882175

Expression for Zimmermann-Laband Syndrome 1

Search GEO for disease gene expression data for Zimmermann-Laband Syndrome 1.

Pathways for Zimmermann-Laband Syndrome 1

GO Terms for Zimmermann-Laband Syndrome 1

Cellular components related to Zimmermann-Laband Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 8.62 KCNH1 ATP6V1B2

Biological processes related to Zimmermann-Laband Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 monoatomic ion transport GO:0006811 8.62 KCNH1 ATP6V1B2

Sources for Zimmermann-Laband Syndrome 1

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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