ZLS1
MCID: ZMM002
MIFTS: 36

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 56 73 29 6
Laband Syndrome 56 52 73
Fibromatosis, Gingival, with Abnormal Fingers, Fingernails, Nose, and Ears, and Splenomegaly 56 73
Zimmerman Laband Syndrome 52 71
Zls1 56 73
Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose and Ears, and Splenomegaly 52
Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose and Ears and Splenomegaly 73
Fibromatosis Gingival, Hepatosplenomegaly Other Anomalies 52
Zimmermann-Laband Syndrome, Type 1 39
Zimmermann Laband Syndrome 73
Zls 52

Characteristics:

OMIM:

56
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

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

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 intellectual disability, severe

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 46)
# Related Disease Score Top Affiliating Genes
1 zimmermann-laband syndrome 33.2 KCNH1 ATP6V1B2
2 hypertrichosis 29.7 KCNH1 ATP6V1B2
3 zimmermann-laband syndrome 2 12.7
4 elephantiasis 11.3
5 zimmermann-laband syndrome 3 11.3
6 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.2
7 autosomal dominant deafness-onychodystrophy syndrome 11.2
8 fibromatosis 10.6
9 gingival fibromatosis 10.6
10 alacrima, achalasia, and mental retardation syndrome 10.4
11 gingival overgrowth 10.4
12 autoimmune disease 10.2
13 bladder cancer 10.2
14 hair whorl 10.2
15 temple-baraitser syndrome 10.2
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
17 overgrowth syndrome 10.2
18 fibromatosis, gingival, 1 10.0
19 hypertelorism 10.0
20 macroglossia 10.0
21 dowling-degos disease 1 10.0
22 strabismus 10.0
23 teeth, supernumerary 10.0
24 retinitis pigmentosa 10.0
25 branchiootic syndrome 1 10.0
26 polydactyly 10.0
27 patent ductus arteriosus 1 10.0
28 nail disorder, nonsyndromic congenital, 9 10.0
29 portal hypertension, noncirrhotic 10.0
30 brachydactyly 10.0
31 neuroretinitis 10.0
32 portal hypertension 10.0
33 visual epilepsy 10.0
34 biliary atresia 10.0
35 hemangioma 10.0
36 retinitis 10.0
37 cavernous hemangioma 10.0
38 gingival hypertrophy 10.0
39 cataract 10.0
40 learning disability 10.0
41 mechanical strabismus 10.0
42 hypermobile ehlers-danlos syndrome 10.0
43 colpocephaly 10.0
44 hypotonia 10.0
45 seizure disorder 10.0
46 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.0

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 coarse facial features 31 HP:0000280
6 cataract 31 HP:0000518
7 splenomegaly 31 HP:0001744
8 hepatomegaly 31 HP:0002240
9 gingival overgrowth 31 HP:0000212
10 muscular hypotonia 31 HP:0001252
11 scoliosis 31 HP:0002650
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 high palate 31 HP:0000218
18 myopia 31 HP:0000545
19 delayed eruption of teeth 31 HP:0000684
20 patent ductus arteriosus 31 HP:0001643
21 spina bifida occulta 31 HP:0003298
22 short distal phalanx of finger 31 HP:0009882
23 synophrys 31 HP:0000664
24 long penis 31 HP:0000040
25 cardiomyopathy 31 HP:0001638
26 posteriorly rotated ears 31 HP:0000358
27 aortic root aneurysm 31 HP:0002616
28 hirsutism 31 HP:0001007
29 generalized hypotonia 31 HP:0001290
30 small nail 31 HP:0001792
31 short distal phalanx of toe 31 HP:0001857
32 gingival fibromatosis 31 HP:0000169
33 hyperextensibility of the finger joints 31 HP:0001187
34 growth abnormality 31 HP:0001507
35 seizure 31 HP:0001250
36 aortic arch aneurysm 31 HP:0005113

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Skeletal Spine:
scoliosis
spina bifida occulta

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)

Abdomen Liver:
hepatomegaly
extrahepatic biliary atresia (rare)

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

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

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
Skin

Publications for Zimmermann-Laband Syndrome 1

Articles related to Zimmermann-Laband Syndrome 1:

(show all 25)
# Title Authors PMID Year
1
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. 6 56
25915598 2015
2
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. 56 6
23994350 2013
3
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. 56 6
18541964 2008
4
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. 56
21626675 2011
5
Wide clinical spectrum in Zimmermann-Laband syndrome. 56
21614982 2011
6
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. 56
20009591 2010
7
Candidate loci for Zimmermann-Laband syndrome at 3p14.3. 56
17163523 2007
8
Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome? 56
15930899 2005
9
Zimmermann-Laband syndrome: further clinical delineation. 56
16261693 2005
10
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association? 56
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. 56
12599195 2003
12
Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity. 56
12503107 2003
13
Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition? 56
11102931 2000
14
Sibs with developmental delay, hirsutism and nail hypoplasia: a new syndrome. 56
11045578 2000
15
Growth deficiency, mental retardation and unusual facies. 56
10826636 2000
16
Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications. 56
9674908 1998
17
Zimmermann-Laband syndrome in a patient with severe mental retardation. 56
8775419 1995
18
A new case of Zimmermann-Laband syndrome with atypical retinitis pigmentosa. 56
1361289 1992
19
The Zimmermann-Laband syndrome. 56
1740896 1992
20
A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis. 56
3228149 1988
21
Zimmerman-Laband syndrome and profound mental retardation. 56
3789014 1986
22
Elephantiasis gingivae. Report of an affected family with associated hepatomegaly, soft tissue & skeletal abnormalities. 56
5216911 1965
23
HEREDITARY GINGIVAL FIBROMATOSIS. REPORT OF AN AFFECTED FAMILY WITH ASSOCIATED SPLENOMEGALY AND SKELETAL AND SOFT-TISSUE ABNORMALITIES. 56
14130237 1964
24
Three-body wear effect on different CAD/CAM ceramics staining durability. 61
32090908 2020
25
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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNH1 NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu)SNV Pathogenic 183417 rs730882173 1:211093297-211093297 1:210919955-210919955
2 KCNH1 NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val)SNV Pathogenic 183416 rs730882176 1:211093309-211093309 1:210919967-210919967
3 KCNH1 NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg)SNV Pathogenic 183415 rs730882174 1:211093321-211093321 1:210919979-210919979
4 KCNH1 NM_172362.3(KCNH1):c.1055C>A (p.Ser352Tyr)SNV Pathogenic 183419 rs730882172 1:211093389-211093389 1:210920047-210920047
5 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro)SNV Pathogenic 183414 rs730882177 8:20077831-20077831 8:20220320-20220320
6 KCNH1 NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val)SNV Pathogenic 162520 rs727502819 1:210977491-210977491 1:210804149-210804149
7 KCNH1 NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)SNV Pathogenic/Likely pathogenic 183418 rs730882175 1:210977485-210977485 1:210804143-210804143
8 KCNH1 NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala)SNV Uncertain significance 587447 rs1558526097 1:211093410-211093410 1:210920068-210920068

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 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 8.96 KCNH1 ATP6V1B2
2 ion transmembrane transport GO:0034220 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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