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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Fibromatosis, Gingival (D005351)
Parent Node: Hand Deformities, Congenital (D006228)
..Starting node ..Zimmerman Laband syndrome (C536725)
Child Nodes:
Sister Nodes:
..Aarskog Syndrome (C535331) 1
..Acheiropodia (C536014)
..Acrofacial dysostosis Rodriguez type (C538183)
..Acrofacial dysostosis, Palagonia type (C538185)
..Acrootoocular Syndrome (C564866)
..Acrorenal Syndrome (C563159)
..Adactylia, Unilateral (C562417)
..Anonychia-Ectrodactyly (C566277)
..Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges (C537766)
..Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Banki Syndrome (C566228)
..BRACHYDACTYLY, TYPE E1 (OMIM:113300)
..BRACHYDACTYLY, TYPE E2 (OMIM:613382)
..Camptodactyly 1 (C567780)
..Camptodactyly joint contractures and facial skeletal dysplasia (C537969)
..Camptodactyly syndrome Guadalajara type 1 (C537970)
..Camptodactyly syndrome Guadalajara type 2 (C537971)
..Camptodactyly taurinuria (C537972)
..Camptodactyly vertebral fusion (C537973)
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Camptodactyly-ichthyosis syndrome (C537976)
..Camptosynpolydactyly, Complex (C564383)
..Carnevale Hernandez Castillo syndrome (C535585)
..Catel Manzke syndrome (C535347)
..CATSHL syndrome (C537975)
..Chitayat Meunier Hodgkinson syndrome (C535926)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Coffin-Siris syndrome (C536436)
..Cranioacrofacial Syndrome (C565147)
..Craniosynostosis, Adelaide Type (C563471)
..Crisponi syndrome (C536214)
..Daneman Davy Mancer syndrome (C535986)
..Deafness, congenital onychodystrophy, recessive form (C538204)
..Digitorenocerebral Syndrome (C563052)
..Digitotalar Dysmorphism (C565097)
..Dwarfism stiff joint ocular abnormalities (C535724)
..Dystelephalangy (C538000)
..Ectodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate (C565065)
..Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 (C565062)
..Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 (C565799)
..Ectrodactyly-Cleft Palate Syndrome (C565064)
..Eiken Skeletal Dysplasia (C564010)
..Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
..Fairbank disease (C536393)
..Femur bifid with monodactylous ectrodactyly (C537917)
..Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..Frints De Smet Fabry Fryns syndrome (C538062)
..Frontootopalatodigital Osteodysplasia (C567578)
..Fuhrmann syndrome (C538189)
..Goodman camptodactyly (C537287)
..Gordon syndrome (C537288)
..Growth mental deficiency syndrome of Myhre (C537620)
..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..Hairy palms and soles (C535620)
..Hand foot uterus syndrome (C535627)
..Heart-hand syndrome, Slovenian type (C535852)
..Hecht Scott syndrome (C535856)
..Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (C564484)
..Hydrolethalus syndrome (C536079)
..Jacobs syndrome (C537560)
..Johnson Munson syndrome (C535881)
..Keutel syndrome (C536167)
..Laurin-Sandrow syndrome (C535689)
..Leri pleonosteosis (C537118)
..Macrodactyly of the hand (C537720)
..MAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..Metacarpal 4 5 Fusion (C564100)
..Metaphyseal acroscyphodysplasia (C537350)
..Michels Caskey syndrome (C537576)
..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
..Mononen Karnes Senac syndrome (C535914)
..Morillo-Cucci Passarge syndrome (C536983)
..Muller Barth Menger syndrome (C537370)
..Neurofaciodigitorenal syndrome (C537388)
..NOG-Related-Symphalangism Spectrum Disorder (C536943)
..Oculootoradial syndrome (C535544)
..Odontotrichoungual-Digital-Palmar Syndrome (C566598)
..Oroacral Syndrome, Verloes-Koulischer Type (C566374)
..Oslam syndrome (C537138)
..Oto-Palato-digital syndrome type 1 (C536065)
..Oto-palato-digital syndrome, type 2 (C538089)
..Otopalatodigital Spectrum Disorder (C567577)
..Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies (C565782)
..Pfeiffer Tietze Welte syndrome (C537891)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Progeroid Facial Appearance with Hand Anomalies (C566563)
..Pseudotrisomy 13 syndrome (C535829)
..Pterygium colli mental retardation digital anomalies (C535831)
..Radio-ulnar synostosis type 1 (C536268)
..Radio-ulnar synostosis type 2 (C536269)
..Rhizomelic dysplasia Patterson Lowry type (C537609)
..Richieri Costa Guion-Almeida syndrome (C535676)
..Richieri Costa Pereira syndrome (C535677)
..Rozin Hertz Goodman syndrome (C535876)
..Saal Bulas syndrome (C537193)
..Sanderson Fraser syndrome (C537232)
..Say Field Coldwell syndrome (C536619)
..Schinzel-Giedion syndrome (C536632)
..Second Metatarsal-Metacarpal Syndrome (C564824)
..Split hand split foot nystagmus (C537319)
..Split-Hand/Foot Malformation With Sensorineural Hearing Loss (C565647)
..Spondylocamptodactyly (C535779)
..Stoll Alembik Dott syndrome (C537497)
..Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
..Symphalangism, C. S. Lewis Type (C566100)
..Symphalangism, Distal (C566099) 1
..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..Synpolydactyly 2 (C564278)
..Tabatznik syndrome (C536784)
..Teebi Kaurah syndrome (C536948)
..Teebi syndrome (C536951)
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendons, Extensor, of Fingers, Anomalous Insertion of (C566068)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Tollner Horst Manzke syndrome (C536964)
..Trichorhinophalangeal Syndrome, Type III (C566033)
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..Triphalangeal Thumb (C573898)
..Triphalangeal thumb non opposable (C536562)
..Triphalangeal Thumb with Double Phalanges (C566028)
..Tukel syndrome (C536925)
..Van Maldergem Wetzburger Verloes syndrome (C536530)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
..Vohwinkel syndrome (C536457)
..Walbaum Titran Durieux Crepin syndrome (C536566)
..Weaver syndrome (C536687)
..Weaver-Like Syndrome (C562443)
..Weyers ulnar ray/oligodactyly syndrome (C536696)
..Zimmerman Laband syndrome (C536725)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11873

Name:

Zimmerman Laband syndrome

Definition:

Alternative IDs:

OMIM:135500

ParentIDs:

MESH:D000015|MESH:D005351|MESH:D006228|MESH:D019465

TreeNumbers:

C05.390.408/C536725 |C05.660.207/C536725 |C05.660.585.988.425/C536725 |C07.465.525.304/C536725 |C07.465.714.258.428.200/C536725 |C07.650.525.304/C536725 |C16.131.077/C536725 |C16.131.621.207/C536725 |C16.131.621.585.425/C536725 |C16.131.850.525.304/C536725

Synonyms:

Fibromatosis, Gingival, With Abnormal Fingers, Fingernails, Nose And Ears, And Splenomegaly |Laband syndrome |Zimmermann-Laband Syndrome |ZLS

Slim Mappings:

Congenital abnormality|Mouth disease|Musculoskeletal disease

Reference:

MedGen: C536725
MeSH: C536725
OMIM: 135500;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005113	Aortic arch aneurysm
3	HP:0002616	Aortic root aneurysm
4	HP:0001638	Cardiomyopathy
5	HP:0000518	Cataract
6	HP:0000280	Coarse facial features
7	HP:0000684	Delayed eruption of teeth
8	HP:0001290	Generalized hypotonia
9	HP:0000169	Gingival fibromatosis
10	HP:0000212	Gingival overgrowth
11	HP:0001507	Growth abnormality
12	HP:0000365	Hearing impairment	HP:0040283
13	HP:0002240	Hepatomegaly
14	HP:0000218	High palate
15	HP:0001007	Hirsutism
16	HP:0001187	Hyperextensibility of the finger joints
17	HP:0001252	Hypotonia
18	HP:0006887	Intellectual disability, progressive	HP:0040283
19	HP:0010864	Intellectual disability, severe	HP:0040283
20	HP:0000040	Long penis
21	HP:0000303	Mandibular prognathia
22	HP:0000545	Myopia
23	HP:0000787	Nephrolithiasis	HP:0040283
24	HP:0001643	Patent ductus arteriosus
25	HP:0000358	Posteriorly rotated ears
26	HP:0002650	Scoliosis
27	HP:0001250	Seizure
28	HP:0009882	Short distal phalanx of finger
29	HP:0001857	Short distal phalanx of toe
30	HP:0001792	Small nail
31	HP:0003298	Spina bifida occulta
32	HP:0001744	Splenomegaly
33	HP:0000664	Synophrys
34	HP:0000574	Thick eyebrow
35	HP:0000179	Thick lower lip vermilion
36	HP:0001537	Umbilical hernia
37	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001693.3(ATP6V1B2):c.1454G>C (p.Arg485Pro)	526	ATP6V1B2	Pathogenic	730882177	RCV000190318; RCV000185603;	N	Gene:353173,MedGen:CN032818,OMIM:135500; MedGen:CN231441,OMIM:616455	8	20077831	20077831	NM_001693.3:c.1454G>C	NP_001684.2:p.Arg485Pro	NC_000008.10:g.20077831G>C	OMIM Allelic Variant:606939.0002	CN032818 135500 Zimmermann-Laband syndrome 1; CN231441 616455 Zimmermann-Laband syndrome 2
NM_002238.3(KCNH1):c.1405G>A (p.Gly469Arg)	3756	KCNH1	Pathogenic	730882175	RCV000190321;	N	Gene:353173,MedGen:CN032818,OMIM:135500	1	210977485	210977485	NM_002238.3:c.1405G>A	NP_002229.1:p.Gly469Arg	NC_000001.10:g.210977485C>T	OMIM Allelic Variant:603305.0006	CN032818 135500 Zimmermann-Laband syndrome 1
NM_002238.3(KCNH1):c.1399A>G (p.Ile467Val)	3756	KCNH1	Pathogenic	727502819	RCV000149910; RCV000185590;	N	Gene:353173,MedGen:CN032818,OMIM:135500; MedGen:C2678486,OMIM:611816	1	210977491	210977491	NM_002238.3:c.1399A>G	NP_002229.1:p.Ile467Val	NC_000001.10:g.210977491T>C	OMIM Allelic Variant:603305.0001,OMIM Allelic Variant:603305.0005	C2678486 611816 Temple-Baraitser syndrome; CN032818 135500 Zimmermann-Laband syndrome 1
NM_002238.3(KCNH1):c.1066G>C (p.Val356Leu)	3756	KCNH1	Pathogenic	730882173	RCV000190320; RCV000185594;	N	Gene:353173,MedGen:CN032818,OMIM:135500	1	211093297	211093297	NM_002238.3:c.1066G>C	NP_002229.1:p.Val356Leu	NC_000001.10:g.211093297C>G	OMIM Allelic Variant:603305.0009	CN032818 135500 Zimmermann-Laband syndrome 1
NM_002238.3(KCNH1):c.1066G>C (p.Val356Leu)	3756	KCNH1	Pathogenic	730882173	RCV000190320; RCV000185594;	N	Gene:353173,MedGen:CN032818,OMIM:135500	1	211093297	211093297	NM_002238.3:c.1066G>C	NP_002229.1:p.Val356Leu	NC_000001.10:g.211093297C>G	OMIM Allelic Variant:603305.0009	CN032818 135500 Zimmermann-Laband syndrome 1
NM_002238.3(KCNH1):c.1054C>G (p.Leu352Val)	3756	KCNH1	Pathogenic	730882176	RCV000185592;	N	Gene:353173,MedGen:CN032818,OMIM:135500	1	211093309	211093309	NM_002238.3:c.1054C>G	NP_002229.1:p.Leu352Val	NC_000001.10:g.211093309G>C	OMIM Allelic Variant:603305.0007	CN032818 135500 Zimmermann-Laband syndrome 1
NM_002238.3(KCNH1):c.1042G>A (p.Gly348Arg)	3756	KCNH1	Pathogenic	730882174	RCV000190319;	N	Gene:353173,MedGen:CN032818,OMIM:135500	1	211093321	211093321	NM_002238.3:c.1042G>A	NP_002229.1:p.Gly348Arg	NC_000001.10:g.211093321C>T	OMIM Allelic Variant:603305.0008	CN032818 135500 Zimmermann-Laband syndrome 1
NM_002238.3(KCNH1):c.974C>A (p.Ser325Tyr)	3756	KCNH1	Pathogenic	730882172	RCV000190322; RCV000185594;	N	Gene:353173,MedGen:CN032818,OMIM:135500	1	211093389	211093389	NM_002238.3:c.974C>A	NP_002229.1:p.Ser325Tyr	NC_000001.10:g.211093389G>T	OMIM Allelic Variant:603305.0009	CN032818 135500 Zimmermann-Laband syndrome 1
NM_002238.3(KCNH1):c.974C>A (p.Ser325Tyr)	3756	KCNH1	Pathogenic	730882172	RCV000190322; RCV000185594;	N	Gene:353173,MedGen:CN032818,OMIM:135500	1	211093389	211093389	NM_002238.3:c.974C>A	NP_002229.1:p.Ser325Tyr	NC_000001.10:g.211093389G>T	OMIM Allelic Variant:603305.0009	CN032818 135500 Zimmermann-Laband syndrome 1