ZLS1
MCID: ZMM002
MIFTS: 35

Zimmermann-Laband Syndrome 1 (ZLS1)

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

Aliases & Classifications for Zimmermann-Laband Syndrome 1

MalaCards integrated aliases for Zimmermann-Laband Syndrome 1:

Name: Zimmermann-Laband Syndrome 1 57 72 29 6
Laband Syndrome 57 20 72
Fibromatosis, Gingival, with Abnormal Fingers, Fingernails, Nose, and Ears, and Splenomegaly 57 72
Zimmerman Laband Syndrome 20 70
Zls1 57 72
Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose and Ears, and Splenomegaly 20
Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose and Ears and Splenomegaly 72
Fibromatosis Gingival, Hepatosplenomegaly Other Anomalies 20
Syndrome, Zimmermann-Laband, Type 1 39
Zimmermann Laband Syndrome 72
Zls 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic


HPO:

31
zimmermann-laband syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Zimmermann-Laband Syndrome 1

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3473 Definition Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. Epidemiology Forty-four patients have been reported to date. Clinical description Coarse facial appearance includes bulbous soft nose, thickened lips, thick and floppy ears and gingival hypertrophy or fibromatosis. The syndrome has a highly variable clinical expression, and other possible features include hyperextensibility of joints, hepatosplenomegaly, hypertrichosis and hearing loss. Intellectual deficit is occasional and usually mild to moderate. The overgrown gingival tissues can affect the ability to speak. Etiology The genetic basis is unknown. Mapping of breakpoints of two translocations t(3;8) and t(3;17) found in two patients with the typical clinical features of Zimmermann-Laband syndrome defined a common breakpoint region located in 3p14.3 but the lack of a specific coding-sequence lesion in the common region suggests that either some other type of genetic defect in this vicinity, or an alteration elsewhere in the genome, could be responsible for ZLS. Autosomal dominant inheritance has been suggested. Differential diagnosis The differential diagnosis includes other defined syndromes of hirsutism and coarsening of the face. Isolated gingival fibromatosis has been documented as a dominantly transmissible trait. Management and treatment Treatment consists of surgical removal of the hyperplasic fibrous tissue and appropriate orthodontic treatment to improve esthetic appearance and eruption of the non-erupted teeth. Prognosis Prognosis is dominated by the risk of recurrence, which is high. Physical systemic evaluation is essential. The syndrome is not life-threatening.

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 liver, and related phenotypes are hearing impairment and intellectual disability, severe

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 20-May-2021)

UniProtKB/Swiss-Prot : 72 Zimmermann-Laband syndrome 1: 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.

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 42)
# Related Disease Score Top Affiliating Genes
1 zimmermann-laband syndrome 31.9 KCNH1 ATP6V1B2
2 hypertrichosis 30.0 KCNH1 ATP6V1B2
3 zimmermann-laband syndrome 2 11.6
4 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.0
5 autosomal dominant deafness-onychodystrophy syndrome 11.0
6 zimmermann-laband syndrome 3 10.9
7 elephantiasis 10.9
8 fibromatosis 10.5
9 gingival fibromatosis 10.5
10 alacrima, achalasia, and mental retardation syndrome 10.3
11 gingival overgrowth 10.3
12 overgrowth syndrome 10.1
13 hair whorl 10.0
14 fibromatosis, gingival, 1 9.9
15 macroglossia 9.9
16 dowling-degos disease 1 9.9
17 strabismus 9.9
18 teeth, supernumerary 9.9
19 retinitis pigmentosa 9.9
20 branchiootic syndrome 1 9.9
21 polydactyly 9.9
22 patent ductus arteriosus 1 9.9
23 temple-baraitser syndrome 9.9
24 nail disorder, nonsyndromic congenital, 9 9.9
25 portal hypertension, noncirrhotic 9.9
26 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 9.9
27 brachydactyly 9.9
28 neuroretinitis 9.9
29 portal hypertension 9.9
30 biliary atresia 9.9
31 hemangioma 9.9
32 retinitis 9.9
33 cavernous hemangioma 9.9
34 gingival hypertrophy 9.9
35 cataract 9.9
36 learning disability 9.9
37 mechanical strabismus 9.9
38 hypermobile ehlers-danlos syndrome 9.9
39 colpocephaly 9.9
40 seizure disorder 9.9
41 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.9
42 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:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 intellectual disability, severe 31 occasional (7.5%) HP:0010864
3 intellectual disability, progressive 31 occasional (7.5%) HP:0006887
4 nephrolithiasis 31 occasional (7.5%) HP:0000787
5 scoliosis 31 HP:0002650
6 high palate 31 HP:0000218
7 coarse facial features 31 HP:0000280
8 cataract 31 HP:0000518
9 splenomegaly 31 HP:0001744
10 hepatomegaly 31 HP:0002240
11 gingival overgrowth 31 HP:0000212
12 mandibular prognathia 31 HP:0000303
13 wide nasal bridge 31 HP:0000431
14 umbilical hernia 31 HP:0001537
15 thick eyebrow 31 HP:0000574
16 thick lower lip vermilion 31 HP:0000179
17 myopia 31 HP:0000545
18 delayed eruption of teeth 31 HP:0000684
19 patent ductus arteriosus 31 HP:0001643
20 spina bifida occulta 31 HP:0003298
21 short distal phalanx of finger 31 HP:0009882
22 synophrys 31 HP:0000664
23 long penis 31 HP:0000040
24 cardiomyopathy 31 HP:0001638
25 posteriorly rotated ears 31 HP:0000358
26 aortic root aneurysm 31 HP:0002616
27 hirsutism 31 HP:0001007
28 generalized hypotonia 31 HP:0001290
29 small nail 31 HP:0001792
30 short distal phalanx of toe 31 HP:0001857
31 gingival fibromatosis 31 HP:0000169
32 hyperextensibility of the finger joints 31 HP:0001187
33 growth abnormality 31 HP:0001507
34 seizure 31 HP:0001250
35 hypotonia 31 HP:0001252
36 aortic arch aneurysm 31 HP:0005113

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hypotonia
mental retardation, severe in some patients

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)

Skeletal Spine:
scoliosis
spina bifida occulta

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 20-May-2021)

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 29 KCNH1

Anatomical Context for Zimmermann-Laband Syndrome 1

MalaCards organs/tissues related to Zimmermann-Laband Syndrome 1:

40
Liver

Publications for Zimmermann-Laband Syndrome 1

Articles related to Zimmermann-Laband Syndrome 1:

(show all 28)
# Title Authors PMID Year
1
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. 6 57
25915598 2015
2
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. 57 6
23994350 2013
3
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. 57 6
18541964 2008
4
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. 57
21626675 2011
5
Wide clinical spectrum in Zimmermann-Laband syndrome. 57
21614982 2011
6
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. 57
20009591 2010
7
Candidate loci for Zimmermann-Laband syndrome at 3p14.3. 57
17163523 2007
8
Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome? 57
15930899 2005
9
Zimmermann-Laband syndrome: further clinical delineation. 57
16261693 2005
10
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association? 57
14706033 2004
11
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. 57
12599195 2003
12
Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity. 57
12503107 2003
13
Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition? 57
11102931 2000
14
Sibs with developmental delay, hirsutism and nail hypoplasia: a new syndrome. 57
11045578 2000
15
Growth deficiency, mental retardation and unusual facies. 57
10826636 2000
16
Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications. 57
9674908 1998
17
Zimmermann-Laband syndrome in a patient with severe mental retardation. 57
8775419 1995
18
A new case of Zimmermann-Laband syndrome with atypical retinitis pigmentosa. 57
1361289 1992
19
The Zimmermann-Laband syndrome. 57
1740896 1992
20
A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis. 57
3228149 1988
21
Zimmerman-Laband syndrome and profound mental retardation. 57
3789014 1986
22
Elephantiasis gingivae. Report of an affected family with associated hepatomegaly, soft tissue & skeletal abnormalities. 57
5216911 1965
23
HEREDITARY GINGIVAL FIBROMATOSIS. REPORT OF AN AFFECTED FAMILY WITH ASSOCIATED SPLENOMEGALY AND SKELETAL AND SOFT-TISSUE ABNORMALITIES. 57
14130237 1964
24
Minimal tooth preparation for posterior monolithic ceramic crowns: Effect on the mechanical behavior, reliability and translucency. 61
33246664 2021
25
Effect of microwave crystallization on the wear resistance of reinforced glass-ceramics. 61
32750672 2020
26
ATP6V1B2-related epileptic encephalopathy. 61
32597767 2020
27
Three-body wear effect on different CAD/CAM ceramics staining durability. 61
32090908 2020
28
Fatigue behavior of ultrafine tabletop ceramic restorations. 61
29934124 2018

Variations for Zimmermann-Laband Syndrome 1

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 1:

6 (show all 15)
# 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 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro) SNV Pathogenic 183414 rs730882177 GRCh37: 8:20077831-20077831
GRCh38: 8:20220320-20220320
4 KCNH1 NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg) SNV Pathogenic 183415 rs730882174 GRCh37: 1:211093321-211093321
GRCh38: 1:210919979-210919979
5 KCNH1 NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu) SNV Pathogenic 183417 rs730882173 GRCh37: 1:211093297-211093297
GRCh38: 1:210919955-210919955
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.1055C>A (p.Ser352Tyr) SNV Pathogenic 183419 rs730882172 GRCh37: 1:211093389-211093389
GRCh38: 1:210920047-210920047
8 KCNH1 NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) SNV Pathogenic 279981 rs886041300 GRCh37: 1:211093374-211093374
GRCh38: 1:210920032-210920032
9 KCNH1 NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) SNV Pathogenic 162520 rs727502819 GRCh37: 1:210977491-210977491
GRCh38: 1:210804149-210804149
10 KCNH1 NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) SNV Pathogenic 162520 rs727502819 GRCh37: 1:210977491-210977491
GRCh38: 1:210804149-210804149
11 KCNH1 NM_172362.3(KCNH1):c.1559G>A (p.Arg520Gln) SNV Likely pathogenic 1034355 GRCh37: 1:210977412-210977412
GRCh38: 1:210804070-210804070
12 KCNH1 NM_172362.3(KCNH1):c.2859_2861delinsTAC (p.Glu953_Ile954delinsAspThr) Indel Uncertain significance 1034356 GRCh37: 1:210856732-210856734
GRCh38: 1:210683390-210683392
13 KCNH1 NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala) SNV Uncertain significance 587447 rs1558526097 GRCh37: 1:211093410-211093410
GRCh38: 1:210920068-210920068
14 KCNH1 NM_172362.3(KCNH1):c.1958C>T (p.Thr653Ile) SNV Uncertain significance 930362 GRCh37: 1:210948844-210948844
GRCh38: 1:210775502-210775502
15 KCNH1 NM_172362.3(KCNH1):c.1717C>T (p.Arg573Cys) SNV Uncertain significance 930399 GRCh37: 1:210971048-210971048
GRCh38: 1:210797706-210797706

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

72
# 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 intracellular membrane-bounded organelle GO:0043231 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 ion transport GO:0006811 8.62 KCNH1 ATP6V1B2

Sources for Zimmermann-Laband Syndrome 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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