Zimmermann-Laband Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Smell/Taste diseases Liver diseases Neuronal diseases Oral diseases Mental diseases

See all MalaCards categories (disease lists)

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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...

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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:

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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	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

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Drugs & Therapeutics for Zimmermann-Laband Syndrome 1

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

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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

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Anatomical Context for Zimmermann-Laband Syndrome 1

Organs/tissues related to Zimmermann-Laband Syndrome 1:

MalaCards : Skin

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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	Kortum F...Kutsche K	25915598	2015
2	Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. ⁶² ⁵⁷ ⁵	Castori M...Grammatico P	23994350	2013
3	No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. ⁶² ⁵⁷ ⁵	Abo-Dalo B...Kutsche K	18541964	2008
4	Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. ⁶² ⁵⁷	Chacon-Camacho OF...Zenteno JC	21626675	2011
5	Wide clinical spectrum in Zimmermann-Laband syndrome. ⁶² ⁵⁷	Davalos IP...Garcia-cruz D	21614982	2011
6	Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. ⁶² ⁵⁷	Balasubramanian M...Parker MJ	20009591	2010
7	Candidate loci for Zimmermann-Laband syndrome at 3p14.3. ⁶² ⁵⁷	Kim HG...Gusella JF	17163523	2007
8	Zimmermann-Laband syndrome: further clinical delineation. ⁶² ⁵⁷	Davalos IP...Sanchez-Corona J	16261693	2005
9	Zimmermann-Laband syndrome with bilateral developmental cataract - a new association? ⁶² ⁵⁷	Shah N...Ghose S	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	Stefanova M...Kutsche K	12599195	2003
11	Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications. ⁶² ⁵⁷	Robertson SP...Bankier A	9674908	1998
12	Zimmermann-Laband syndrome in a patient with severe mental retardation. ⁶² ⁵⁷	Van Buggenhout GJ...Hamel BC	8775419	1995
13	A new case of Zimmermann-Laband syndrome with atypical retinitis pigmentosa. ⁶² ⁵⁷	Koch P...Zaun H	1361289	1992
14	The Zimmermann-Laband syndrome. ⁶² ⁵⁷	Pfeiffer RA...Tietze HU	1740896	1992
15	A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis. ⁶² ⁵⁷	de Pina Neto JM...Ribas JP	3228149	1988
16	Zimmerman-Laband syndrome and profound mental retardation. ⁶² ⁵⁷	Chodirker BN...Reed MH	3789014	1986
17	De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. ⁵	Brunet T...Wagner M	33619735	2021
18	Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome? ⁵⁷	Roper EC...Parker MJ	15930899	2005
19	Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity. ⁵⁷	Canun S...Rodriguez-Asbun H	12503107	2003
20	Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition? ⁵⁷	Gohlich-Ratmann G...Gillessen-Kaesbach G	11102931	2000
21	Sibs with developmental delay, hirsutism and nail hypoplasia: a new syndrome. ⁵⁷	Stewart H...Super M	11045578	2000
22	Growth deficiency, mental retardation and unusual facies. ⁵⁷	Steiner CE...Marques AP	10826636	2000
23	Elephantiasis gingivae. Report of an affected family with associated hepatomegaly, soft tissue & skeletal abnormalities. ⁵⁷	Alavandar G	5216911	1965
24	HEREDITARY GINGIVAL FIBROMATOSIS. REPORT OF AN AFFECTED FAMILY WITH ASSOCIATED SPLENOMEGALY AND SKELETAL AND SOFT-TISSUE ABNORMALITIES. ⁵⁷	LABAND PF...HUMPHREYS GS	14130237	1964
25	A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype. ⁶²	Veltra D...Sofocleous C	36135319	2022
26	Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis. ⁶²	Napoli G...Caputo V	35639255	2022
27	Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels. ⁶²	Nam YW...Zhang M	35715699	2022
28	Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. ⁶²	Aubert Mucca M...Mignot C	33811134	2022
29	Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes. ⁶²	Gao X...Yuan YY	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	Schwarz M...Havlovicova M	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	Orfali R...Zhang M	35030515	2022
32	Syndromes with gingival fibromatosis: A systematic review. ⁶²	Costa CRR...Acevedo AC	32335995	2021
33	Minimal tooth preparation for posterior monolithic ceramic crowns: Effect on the mechanical behavior, reliability and translucency. ⁶²	Dal Piva AMO...Bottino MA	33246664	2021
34	Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux. ⁶²	Qiu S...Yuan Y	34746137	2021
35	Effect of microwave crystallization on the wear resistance of reinforced glass-ceramics. ⁶²	de Carvalho ABG...Kleverlaan CJ	32750672	2020
36	Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants. ⁶²	Kortum F...Kutsche K	32622958	2020
37	ATP6V1B2-related epileptic encephalopathy. ⁶²	Inuzuka LM...Kok F	32597767	2020
38	EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. ⁶²	Shaw M...Gecz J	31655144	2020
39	Three-body wear effect on different CAD/CAM ceramics staining durability. ⁶²	Dal Piva AMO...Kleverlaan CJ	32090908	2020
40	"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. ⁶²	Hamilton MJ...Suri M	32560786	2020
41	Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. ⁶²	Bauer CK...Kutsche K	31155282	2019
42	Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients. ⁶²	Shirian S...Daneshbod Y	31275518	2019
43	Fatigue behavior of ultrafine tabletop ceramic restorations. ⁶²	Abu-Izze FO...Bottino MA	29934124	2018
44	An Extremely Rare Presentation of Zimmermann-Laband Syndrome in a Twin. ⁶²	Reddy M...Ranmare V	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	Sangkhathat S...Chiengkriwate P	29707407	2018
46	Syndromes with supernumerary teeth. ⁶²	Lubinsky M...Kantaputra PN	27250821	2016
47	Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? ⁶²	Megarbane A...Chouchane L	27282200	2016
48	Epilepsy in KCNH1-related syndromes. ⁶²	Mastrangelo M...Leuzzi V	27267311	2016
49	De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. ⁶²	Fukai R...Matsumoto N	26818738	2016
50	'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. ⁶²	Bramswig NC...Ludecke HJ	26264464	2015

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Genes for Zimmermann-Laband Syndrome 1

Genes related to Zimmermann-Laband Syndrome 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KCNH1	Potassium Voltage-Gated Channel Subfamily H Member 1	Protein Coding	1333.1	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	18541964 23994350 25915598 (more) 33619735
2	ATP6V1B2	ATPase H+ Transporting V1 Subunit B2	Protein Coding	400	Pathogenic ⁵

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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

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Expression for Zimmermann-Laband Syndrome 1

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

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Pathways for Zimmermann-Laband Syndrome 1

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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

Sources for Zimmermann-Laband Syndrome 1

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Zimmermann-Laband Syndrome 1 (ZLS1)

Aliases & Classifications for Zimmermann-Laband Syndrome 1

MalaCards integrated aliases for Zimmermann-Laband Syndrome 1:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Zimmermann-Laband Syndrome 1

Related Diseases for Zimmermann-Laband Syndrome 1

Diseases in the Zimmermann-Laband Syndrome family:

Diseases related to Zimmermann-Laband Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Zimmermann-Laband Syndrome 1

Human phenotypes related to Zimmermann-Laband Syndrome 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Zimmermann-Laband Syndrome 1:

Drugs & Therapeutics for Zimmermann-Laband Syndrome 1

Genetic Tests for Zimmermann-Laband Syndrome 1

Genetic tests related to Zimmermann-Laband Syndrome 1:

Anatomical Context for Zimmermann-Laband Syndrome 1

Organs/tissues related to Zimmermann-Laband Syndrome 1:

Publications for Zimmermann-Laband Syndrome 1

Articles related to Zimmermann-Laband Syndrome 1:

Genes for Zimmermann-Laband Syndrome 1

Genes related to Zimmermann-Laband Syndrome 1 (2 elite genes):

Variations for Zimmermann-Laband Syndrome 1

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 1:

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

Expression 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:

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

Sources for Zimmermann-Laband Syndrome 1