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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: Cleft Lip (D002971)
Parent Node: Growth Disorders (D006130)
Parent Node: Limb Deformities, Congenital (D017880)
..Starting node ..Krause-Kivlin syndrome (C537617)
Child Nodes:
Sister Nodes:
..Aase Smith syndrome (C535332)
..Abruzzo Erickson syndrome (C535559)
..Acromegaloid facial appearance syndrome (C535655)
..Acromicric dysplasia (C535662) 1
..Acropectoral syndrome (C535664)
..Acropectorovertebral Dysplasia, F-Form (C566319)
..Acrorenal syndrome recessive (C535666)
..Adams Oliver syndrome (C538225)
..Arachnodactyly (D054119) 10
..Arms, Malformation of (C566258)
..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..Bagatelle Cassidy syndrome (C537796)
..Brachydactyly (D059327) 54
..Brachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..Brachyolmia, recessive Hobaek type (C537099)
..Calabro syndrome (C537960)
..Camptobrachydactyly (C537967)
..Cartwright Nelson Fryns syndrome (C535917)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Chondrodysplasia, acromesomelic, with genital anomalies (C537913)
..COCOON SYNDROME (OMIM:613630)
..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Craniomicromelic Syndrome (C566522)
..Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..Ectrodactyly (C574275)
..Ectrodactyly-Polydactyly (C565601)
..Ectromelia (D004480) 22
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Fetal akinesia syndrome, X-linked (C537921)
..Foot Deformities, Congenital (D005532) 78
..Freire-Maia odontotrichomelic syndrome (C535637)
..Fryns syndrome (C538070)
..Genee-Wiedemann syndrome (C537680)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hand and foot deformity with flat facies (C535626)
..Hand Deformities, Congenital (D006228) 134
..Hanhart syndrome (C535629)
..Heart defects limb shortening (C535850)
..Hypochondroplasia (C562937)
..Hypoglossia-Hypodactylia (C566308)
..Ichthyosis tapered fingers midline groove up (C536272)
..Kaplan Plauchu Fitch syndrome (C536892)
..Kaufman oculocerebrofacial syndrome (C537013)
..Krause-Kivlin syndrome (C537617)
..Kuster syndrome (C538126)
..Laryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
..Le Marec Bracq Picaud syndrome (C536997)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..Limb Deficiencies, Distal, with Micrognathia (C565437)
..Limb-mammary syndrome (C535903)
..Lower Extremity Deformities, Congenital (D038061) 89
..Lynch Lee Murday syndrome (C537713)
..Megalodactyly (C562546)
..Mental retardation spasticity ectrodactyly (C537446)
..Mesomelia-synostoses syndrome (C537348)
..Metaphyseal anadysplasia (C537351)
..Metaphyseal Anadysplasia 1 (C567545)
..Metaphyseal Anadysplasia 2 (C567771)
..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..Microphthalmia, Syndromic 6 (C566440)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Multiple Pterygium Syndrome, X-Linked (C564072)
..Nephrosis deafness urinary tract digital malformation (C536402)
..Neu Laxova syndrome (C536405)
..Nievergelt syndrome (C536120)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Palant cleft palate syndrome (C538102)
..Penttinen-Aula syndrome (C536653)
..Pointer syndrome (C536323)
..Polydactyly (D017689) 61
..Postaxial Oligodactyly, Tetramelic (C566767)
..Powell Chandra Saal syndrome (C538357)
..Propping Zerres syndrome (C538052)
..Proteus Syndrome (D016715) 1
..Radial Ray Deficiency, X-Linked (C564523)
..Rapadilino syndrome (C535288)
..Reardon Hall Slaney syndrome (C535294)
..Renal dysplasia - limb defects syndrome (C537754)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Robinow syndrome, autosomal recessive (C535863)
..Ruzicka Goerz Anton syndrome (C537192)
..Short Stature-Obesity Syndrome (C564821)
..Splenogonadal fusion limb defects micrognatia (C537318)
..Split hand foot deformity (C535777) 2
..Split hand foot deformity 1 (C567893)
..Split-Hand And Split-Foot With Hypodontia (C566665)
..Split-Hand Foot Malformation 2 (C564056) 1
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Split-Hand/Foot Malformation 4 (C565344)
..Split-Hand/Foot Malformation 5 (C564674)
..Split-Hand/Foot Malformation 6 (C567616)
..Split-hand/foot malformation with long bone deficiency (C536425)
..Split-Hand/Foot Malformation With Long Bone Deficiency 2 (C565199)
..Split-Hand/Foot Malformation With Long Bone Deficiency 3 (C567245)
..Steinfeld Syndrome (C566655)
..Stern Lubinsky Durrie syndrome (C537488)
..Stratton-Parker Syndrome (C566105)
..Syndactyly (D013576) 69
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Tetramelic Monodactyly (C566066)
..Thanatophoric Dysplasia (D013796) 8
..Thoracic Dysplasia-Hydrocephalus Syndrome (C564774)
..Thoraco limb dysplasia Rivera type (C536516)
..Thoracomelic Dysplasia (C564773)
..Ulnar Hypoplasia with Mental Retardation (C564757)
..Upper Extremity Deformities, Congenital (D038062) 145
..VACTERL association (C536495)
..VACTERL association with hydrocephaly, X-linked (C536520)
..VACTERL hydrocephaly (C536521)
..Viljoen Kallis Voges syndrome (C536349)
..Weyers acrofacial dysostosis (C536695)
..Wright Dyck syndrome (C536749)
..Yunis Varon syndrome (C536719)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6144

Name:

Krause-Kivlin syndrome

Definition:

Alternative IDs:

OMIM:261540

ParentIDs:

MESH:D002971|MESH:D006130|MESH:D017880

TreeNumbers:

C05.660.585/C537617 |C07.465.409.225/C537617 |C07.465.525.164/C537617 |C07.650.525.164/C537617 |C16.131.621.585/C537617 |C16.131.850.525.164/C537617 |C23.550.393/C537617

Synonyms:

Slim Mappings:

Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: C537617
MeSH: C537617
OMIM: 261540;

Genes: B3GALTL;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002644	Abnormality of pelvic girdle bone morphology
3	HP:0001274	Agenesis of corpus callosum
4	HP:0000690	Agenesis of maxillary lateral incisor
5	HP:0001631	Atrial septal defect
6	HP:0001080	Biliary tract abnormality
7	HP:0005608	Bilobate gallbladder
8	HP:0003561	Birth length less than 3rd percentile
9	HP:0000475	Broad neck
10	HP:0000518	Cataract
11	HP:0002059	Cerebral atrophy
12	HP:0000175	Cleft palate
13	HP:0000204	Cleft upper lip
14	HP:0004209	Clinodactyly of the 5th finger
15	HP:0000060	Clitoral hypoplasia
16	HP:0011065	Conical incisor
17	HP:0001363	Craniosynostosis
18	HP:0000028	Cryptorchidism
19	HP:0004325	Decreased body weight
20	HP:0001540	Diastasis recti
21	HP:0002263	Exaggerated cupid's bow
22	HP:0002219	Facial hypertrichosis
23	HP:0008872	Feeding difficulties in infancy
24	HP:0002007	Frontal bossing
25	HP:0000501	Glaucoma
26	HP:0002937	Hemivertebrae
27	HP:0000238	Hydrocephalus
28	HP:0000126	Hydronephrosis
29	HP:0000316	Hypertelorism
30	HP:0000013	Hypoplasia of the uterus
31	HP:0008726	Hypoplasia of the vagina
32	HP:0000059	Hypoplastic labia majora
33	HP:0000047	Hypospadias
34	HP:0006887	Intellectual disability, progressive	HP:0040284
35	HP:0001511	Intrauterine growth retardation
36	HP:0000612	Iris coloboma
37	HP:0001388	Joint laxity
38	HP:0002996	Limited elbow movement
39	HP:0000343	Long philtrum
40	HP:0000256	Macrocephaly
41	HP:0000252	Microcephaly
42	HP:0000347	Micrognathia
43	HP:0008569	Microtia, second degree
44	HP:0000545	Myopia
45	HP:0000639	Nystagmus
46	HP:0000767	Pectus excavatum
47	HP:0001761	Pes cavus
48	HP:0000659	Peters anomaly
49	HP:0001561	Polyhydramnios
50	HP:0008897	Postnatal growth retardation
51	HP:0004467	Preauricular pit
52	HP:0011220	Prominent forehead
53	HP:0000411	Protruding ear
54	HP:0009623	Proximal placement of thumb
55	HP:0000508	Ptosis
56	HP:0001642	Pulmonic stenosis
57	HP:0000480	Retinal coloboma
58	HP:0008905	Rhizomelia
59	HP:0000311	Round face
60	HP:0002650	Scoliosis
61	HP:0001250	Seizure
62	HP:0001773	Short foot
63	HP:0000200	Short lingual frenulum
64	HP:0010049	Short metacarpal
65	HP:0010743	Short metatarsal
66	HP:0004279	Short palm
67	HP:0000954	Single transverse palmar crease
68	HP:0003278	Square pelvis bone
69	HP:0000402	Stenosis of the external auditory canal
70	HP:0001159	Syndactyly
71	HP:0000219	Thin upper lip vermilion
72	HP:0000233	Thin vermilion border
73	HP:0001537	Umbilical hernia
74	HP:0000582	Upslanted palpebral fissure
75	HP:0000073	Ureteral duplication
76	HP:0001629	Ventricular septal defect
77	HP:0002119	Ventriculomegaly
78	HP:0000465	Webbed neck
79	HP:0000260	Wide anterior fontanel
80	HP:0006610	Wide intermamillary distance

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_194318.3(B3GLCT):c.347+5G>A	145173	B3GLCT	Pathogenic	80338850	RCV000001327;	N	MedGen:C0796012,OMIM:261540,ORPHA:709	13	31821241	31821241	NM_194318.3:c.347+5G>A		NC_000013.10:g.31821241G>A	OMIM Allelic Variant:610308.0002	C0796012 261540 Peters plus syndrome
NM_194318.3(B3GLCT):c.660+1G>A	145173	B3GLCT	Pathogenic	80338851	RCV000001326; RCV000082789;	N	MedGen:C0796012,OMIM:261540,ORPHA:709; MedGen:CN221809	13	31843415	31843415	NM_194318.3:c.660+1G>A		NC_000013.10:g.31843415G>A	HGMD:CS064369,OMIM Allelic Variant:610308.0001	CN221809 not provided; C0796012 261540 Peters plus syndrome
NM_194318.3(B3GLCT):c.1065-1G>A	145173	B3GLCT	Pathogenic	371904655	RCV000174622;	N	MedGen:C0796012,OMIM:261540,ORPHA:709	13	31891702	31891702	NM_194318.3:c.1065-1G>A		NC_000013.10:g.31891702G>A	-	C0796012 261540 Peters plus syndrome
NM_194318.3(B3GLCT):c.1067_1082del16 (p.Ile356Thrfs)	145173	B3GLCT	Pathogenic	794727108	RCV000174621;	N	MedGen:C0796012,OMIM:261540,ORPHA:709	13	31891705	31891720	NM_194318.3:c.1067_1082del16	NP_919299.3:p.Ile356Thrfs	NC_000013.10:g.31891705_31891720delTCTCCAGGCTCCAGCA	-	C0796012 261540 Peters plus syndrome
NM_194318.3(B3GLCT):c.1098T>A (p.Tyr366Ter)	145173	B3GLCT	Pathogenic	80338852	RCV000021077;	N	MedGen:C0796012,OMIM:261540,ORPHA:709	13	31891736	31891736	NM_194318.3:c.1098T>A	NP_919299.3:p.Tyr366Ter	NC_000013.10:g.31891736T>A	-	C0796012 261540 Peters plus syndrome
NM_194318.3(B3GLCT):c.1178G>A (p.Gly393Glu)	145173	B3GLCT	Pathogenic	267606675	RCV000001330;	N	MedGen:C0796012,OMIM:261540,ORPHA:709	13	31891816	31891816	NM_194318.3:c.1178G>A	NP_919299.3:p.Gly393Glu	NC_000013.10:g.31891816G>A	OMIM Allelic Variant:610308.0005	C0796012 261540 Peters plus syndrome