MCID: ISL096
MIFTS: 34

Isolated Klippel-Feil Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Klippel-Feil Syndrome

MalaCards integrated aliases for Isolated Klippel-Feil Syndrome:

Name: Isolated Klippel-Feil Syndrome 58
Congenital Cervical Vertebral Fusion 58
Congenital Fused Cervical Segments 58
Klippel-Feil Malformation 58
Klippel-Feil Sequence 58

Characteristics:

Orphanet epidemiological data:

58
isolated klippel-feil syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Isolated Klippel-Feil Syndrome

MalaCards based summary : Isolated Klippel-Feil Syndrome, also known as congenital cervical vertebral fusion, is related to klippel-feil syndrome 1, autosomal dominant and klippel-feil syndrome. An important gene associated with Isolated Klippel-Feil Syndrome is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include heart, and related phenotypes are short neck and webbed neck

Related Diseases for Isolated Klippel-Feil Syndrome

Graphical network of the top 20 diseases related to Isolated Klippel-Feil Syndrome:



Diseases related to Isolated Klippel-Feil Syndrome

Symptoms & Phenotypes for Isolated Klippel-Feil Syndrome

Human phenotypes related to Isolated Klippel-Feil Syndrome:

58 31 (showing 25, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 webbed neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000465
3 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
4 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
5 abnormal vertebral segmentation and fusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0005640
6 cervical c2/c3 vertebral fusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0004602
7 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
8 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
9 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
10 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
11 congenital muscular torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0005988
12 abnormal shoulder morphology 31 frequent (33%) HP:0003043
13 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
14 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
15 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
16 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
17 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
18 abnormal cranial nerve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001291
19 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
20 spina bifida 58 31 occasional (7.5%) Occasional (29-5%) HP:0002414
21 abnormal sacrum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005107
22 ectopic anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0004397
23 malformation of the heart and great vessels 58 Occasional (29-5%)
24 abnormality of the vertebral column 58 Very frequent (99-80%)
25 abnormality of the shoulder 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Isolated Klippel-Feil Syndrome:

46 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.35 GDF3 GDF6 LRRK2 MEOX1 RIPPLY2
2 skeleton MP:0005390 8.92 GDF6 LRRK2 MEOX1 RIPPLY2

Drugs & Therapeutics for Isolated Klippel-Feil Syndrome

Search Clinical Trials , NIH Clinical Center for Isolated Klippel-Feil Syndrome

Genetic Tests for Isolated Klippel-Feil Syndrome

Anatomical Context for Isolated Klippel-Feil Syndrome

MalaCards organs/tissues related to Isolated Klippel-Feil Syndrome:

40
Heart

Publications for Isolated Klippel-Feil Syndrome

Articles related to Isolated Klippel-Feil Syndrome:

(showing 18, show less)
# Title Authors PMID Year
1
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. 6
26238661 2015
2
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. 6
25343988 2015
3
Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. 6
24073994 2013
4
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 6
23307924 2013
5
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. 6
23290072 2013
6
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 6
19864492 2010
7
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 6
19129173 2009
8
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 6
18425797 2008
9
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. 61
33276377 2021
10
Central sleep apnea and Chiari 1 malformation in a pediatric patient with Klippel-Feil syndrome. 61
32620190 2020
11
Klippel - Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature. 61
27275209 2015
12
Developmental anomalies of the scapula-the "omo"st forgotten bone. 61
12884444 2003
13
Is there a relation between Klippel-Feil sequence and Kallmann syndrome? 61
7762597 1995
14
Cholelithiasis in cervico-oculo-acoustic (Wildervanck's) syndrome. 61
8241656 1993
15
Klippel-Feil sequence and sleep-disordered breathing in two children. 61
8420417 1993
16
Cervical neurenteric fistula causing recurrent meningitis in Klippel-Feil sequence: case report and literature review. 61
1876469 1991
17
Cervico-oculo-acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence? 61
2355722 1990
18
Association of the Klippel-Feil sequence with frontonasal dysplasia sequence. 61
6641005 1983

Variations for Isolated Klippel-Feil Syndrome

ClinVar genetic disease variations for Isolated Klippel-Feil Syndrome:

6 (showing 131, show less)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GDF6 NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) SNV Pathogenic 8372 rs63751220 8:97157293-97157293 8:96145065-96145065
2 GDF6 NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) SNV Pathogenic 8373 rs121909353 8:97156888-97156888 8:96144660-96144660
3 GDF6 NM_001001557.4(GDF6):c.125G>T (p.Gly42Val) SNV Pathogenic 8374 rs121909354 8:97172796-97172796 8:96160568-96160568
4 MEOX1 NM_004527.4(MEOX1):c.94del (p.Ala32fs) Deletion Pathogenic 39507 rs1567750527 17:41738809-41738809 17:43661441-43661441
5 MEOX1 NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter) SNV Pathogenic 39508 rs772798486 17:41719379-41719379 17:43642011-43642011
6 MEOX1 NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter) SNV Pathogenic 162132 rs713993044 17:41738653-41738653 17:43661285-43661285
7 GDF6 NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) SNV Pathogenic 8373 rs121909353 8:97156888-97156888 8:96144660-96144660
8 LRRK2 NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) SNV Pathogenic 39198 rs33949390 12:40713845-40713845 12:40320043-40320043
9 GDF6 NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) SNV Pathogenic 8371 rs121909352 8:97157413-97157413 8:96145185-96145185
10 RIPPLY2 NM_001009994.2(RIPPLY2):c.299del (p.Leu100fs) Deletion Likely pathogenic 218314 rs864309489 6:84567020-84567020 6:83857301-83857301
11 GDF3 NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) SNV Likely pathogenic 30591 rs140926412 12:7842773-7842773 12:7690177-7690177
12 GDF6 NM_001001557.4(GDF6):c.742C>A (p.Arg248Ser) SNV Uncertain significance 364048 rs750809706 8:97157417-97157417 8:96145189-96145189
13 GDF6 NM_001001557.4(GDF6):c.*276T>C SNV Uncertain significance 364031 rs886063204 8:97156515-97156515 8:96144287-96144287
14 GDF6 NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu) SNV Uncertain significance 364047 rs886063208 8:97157389-97157389 8:96145161-96145161
15 GDF6 NM_001001557.4(GDF6):c.*2214C>T SNV Uncertain significance 364006 rs188995955 8:97154577-97154577 8:96142349-96142349
16 GDF6 NM_001001557.4(GDF6):c.741G>A (p.Ala247=) SNV Uncertain significance 364049 rs563560538 8:97157418-97157418 8:96145190-96145190
17 GDF6 NM_001001557.4(GDF6):c.*58G>A SNV Uncertain significance 364040 rs886063207 8:97156733-97156733 8:96144505-96144505
18 GDF6 NM_001001557.4(GDF6):c.*280T>C SNV Uncertain significance 364029 rs886063202 8:97156511-97156511 8:96144283-96144283
19 GDF6 NM_001001557.4(GDF6):c.*268G>C SNV Uncertain significance 364035 rs575001243 8:97156523-97156523 8:96144295-96144295
20 GDF6 NM_001001557.4(GDF6):c.*653C>A SNV Uncertain significance 364021 rs886063196 8:97156138-97156138 8:96143910-96143910
21 GDF6 NM_001001557.4(GDF6):c.499C>T (p.Arg167Trp) SNV Uncertain significance 364050 rs886063209 8:97157660-97157660 8:96145432-96145432
22 GDF6 NM_001001557.4(GDF6):c.460A>G (p.Met154Val) SNV Uncertain significance 835633 8:97157699-97157699 8:96145471-96145471
23 GDF6 NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro) SNV Uncertain significance 836171 8:97172754-97172754 8:96160526-96160526
24 GDF6 NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly) Indel Uncertain significance 836825 8:97157156-97157157 8:96144928-96144929
25 GDF6 NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) SNV Uncertain significance 836995 8:97157344-97157344 8:96145116-96145116
26 GDF6 NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu) SNV Uncertain significance 837877 8:97157536-97157536 8:96145308-96145308
27 GDF6 NM_001001557.4(GDF6):c.27G>A (p.Ser9=) SNV Uncertain significance 846167 8:97172894-97172894 8:96160666-96160666
28 GDF6 NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser) SNV Uncertain significance 851090 8:97172698-97172698 8:96160470-96160470
29 GDF6 NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro) SNV Uncertain significance 853665 8:97157731-97157731 8:96145503-96145503
30 GDF6 NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) SNV Uncertain significance 863448 8:97172599-97172599 8:96160371-96160371
31 GDF6 NM_001001557.4(GDF6):c.*2215G>A SNV Uncertain significance 912481 8:97154576-97154576 8:96142348-96142348
32 GDF6 NM_001001557.4(GDF6):c.*725C>A SNV Uncertain significance 912527 8:97156066-97156066 8:96143838-96143838
33 GDF6 NM_001001557.4(GDF6):c.*647C>T SNV Uncertain significance 912528 8:97156144-97156144 8:96143916-96143916
34 GDF6 NM_001001557.4(GDF6):c.*620A>G SNV Uncertain significance 912529 8:97156171-97156171 8:96143943-96143943
35 GDF6 NM_001001557.4(GDF6):c.*546G>C SNV Uncertain significance 912530 8:97156245-97156245 8:96144017-96144017
36 GDF6 NM_001001557.4(GDF6):c.*529C>G SNV Uncertain significance 912531 8:97156262-97156262 8:96144034-96144034
37 GDF6 NM_001001557.4(GDF6):c.*249G>A SNV Uncertain significance 364036 rs886063206 8:97156542-97156542 8:96144314-96144314
38 GDF6 NM_001001557.4(GDF6):c.*891G>A SNV Uncertain significance 364016 rs376103537 8:97155900-97155900 8:96143672-96143672
39 GDF6 NM_001001557.4(GDF6):c.957C>A (p.Ala319=) SNV Uncertain significance 364044 rs757525366 8:97157202-97157202 8:96144974-96144974
40 GDF6 NM_001001557.4(GDF6):c.*288T>A SNV Uncertain significance 364028 rs886063201 8:97156503-97156503 8:96144275-96144275
41 GDF3 NM_020634.3(GDF3):c.709A>G (p.Thr237Ala) SNV Uncertain significance 538877 rs934067367 12:7842860-7842860 12:7690264-7690264
42 GDF3 NM_020634.3(GDF3):c.161T>C (p.Ile54Thr) SNV Uncertain significance 642837 rs910081119 12:7848164-7848164 12:7695568-7695568
43 GDF3 NM_020634.3(GDF3):c.910T>C (p.Ser304Pro) SNV Uncertain significance 657164 rs774437736 12:7842659-7842659 12:7690063-7690063
44 GDF6 NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) SNV Uncertain significance 8371 rs121909352 8:97157413-97157413 8:96145185-96145185
45 GDF6 NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) SNV Uncertain significance 364042 rs140782427 8:97156855-97156855 8:96144627-96144627
46 GDF6 NM_001001557.4(GDF6):c.24C>G (p.Leu8=) SNV Uncertain significance 707560 rs369859861 8:97172897-97172897 8:96160669-96160669
47 GDF6 NM_001001557.4(GDF6):c.18C>T (p.Val6=) SNV Uncertain significance 914078 8:97172903-97172903 8:96160675-96160675
48 GDF6 NM_001001557.4(GDF6):c.-86C>T SNV Uncertain significance 914079 8:97173006-97173006 8:96160778-96160778
49 GDF6 NM_001001557.4(GDF6):c.*106A>T SNV Uncertain significance 914547 8:97156685-97156685 8:96144457-96144457
50 GDF6 NM_001001557.4(GDF6):c.*27G>A SNV Uncertain significance 914548 8:97156764-97156764 8:96144536-96144536
51 GDF6 NM_001001557.4(GDF6):c.1348G>A (p.Glu450Lys) SNV Uncertain significance 914549 8:97156811-97156811 8:96144583-96144583
52 GDF6 NM_001001557.4(GDF6):c.*1441C>T SNV Uncertain significance 913991 8:97155350-97155350 8:96143122-96143122
53 GDF6 NM_001001557.4(GDF6):c.*1138G>A SNV Uncertain significance 913992 8:97155653-97155653 8:96143425-96143425
54 GDF6 NM_001001557.4(GDF6):c.*1083C>T SNV Uncertain significance 913993 8:97155708-97155708 8:96143480-96143480
55 GDF6 NM_001001557.4(GDF6):c.*1055G>A SNV Uncertain significance 913994 8:97155736-97155736 8:96143508-96143508
56 GDF6 NM_001001557.4(GDF6):c.*1043A>G SNV Uncertain significance 913995 8:97155748-97155748 8:96143520-96143520
57 GDF6 NM_001001557.4(GDF6):c.*274T>C SNV Uncertain significance 914034 8:97156517-97156517 8:96144289-96144289
58 GDF6 NM_001001557.4(GDF6):c.*273C>T SNV Uncertain significance 914035 8:97156518-97156518 8:96144290-96144290
59 GDF6 NM_001001557.4(GDF6):c.*271T>C SNV Uncertain significance 914036 8:97156520-97156520 8:96144292-96144292
60 GDF6 NM_001001557.4(GDF6):c.*205T>C SNV Uncertain significance 914037 8:97156586-97156586 8:96144358-96144358
61 GDF6 NM_001001557.4(GDF6):c.*2189T>C SNV Uncertain significance 913595 8:97154602-97154602 8:96142374-96142374
62 GDF6 NM_001001557.4(GDF6):c.*1781G>C SNV Uncertain significance 913597 8:97155010-97155010 8:96142782-96142782
63 GDF6 NM_001001557.4(GDF6):c.*405G>A SNV Uncertain significance 913637 8:97156386-97156386 8:96144158-96144158
64 GDF6 NM_001001557.4(GDF6):c.*333G>T SNV Uncertain significance 913638 8:97156458-97156458 8:96144230-96144230
65 GDF6 NM_001001557.4(GDF6):c.*319A>C SNV Uncertain significance 913639 8:97156472-97156472 8:96144244-96144244
66 GDF6 NM_001001557.4(GDF6):c.743G>T (p.Arg248Leu) SNV Uncertain significance 913678 8:97157416-97157416 8:96145188-96145188
67 GDF6 NM_001001557.4(GDF6):c.716A>G (p.Glu239Gly) SNV Uncertain significance 913679 8:97157443-97157443 8:96145215-96145215
68 GDF6 NM_001001557.4(GDF6):c.701G>A (p.Arg234Gln) SNV Uncertain significance 913680 8:97157458-97157458 8:96145230-96145230
69 GDF6 NM_001001557.4(GDF6):c.*908G>A SNV Uncertain significance 915224 8:97155883-97155883 8:96143655-96143655
70 GDF6 NM_001001557.4(GDF6):c.*868C>T SNV Uncertain significance 915225 8:97155923-97155923 8:96143695-96143695
71 GDF6 NM_001001557.4(GDF6):c.*734T>C SNV Uncertain significance 915226 8:97156057-97156057 8:96143829-96143829
72 GDF6 NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu) SNV Uncertain significance 939263 8:97157289-97157289 8:96145061-96145061
73 GDF6 NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) SNV Uncertain significance 939495 8:97157374-97157374 8:96145146-96145146
74 GDF3 NM_020634.3(GDF3):c.751G>A (p.Ala251Thr) SNV Uncertain significance 946377 12:7842818-7842818 12:7690222-7690222
75 GDF6 NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys) SNV Uncertain significance 954246 8:97157303-97157303 8:96145075-96145075
76 GDF6 NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys) SNV Uncertain significance 954499 8:97172616-97172616 8:96160388-96160388
77 GDF6 NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) SNV Uncertain significance 914077 8:97172671-97172671 8:96160443-96160443
78 GDF6 NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser) SNV Uncertain significance 958860 8:97172668-97172668 8:96160440-96160440
79 GDF6 NM_001001557.4(GDF6):c.878T>C (p.Met293Thr) SNV Uncertain significance 959329 8:97157281-97157281 8:96145053-96145053
80 GDF6 NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr) SNV Uncertain significance 962453 8:97172698-97172698 8:96160470-96160470
81 GDF6 NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg) SNV Uncertain significance 964319 8:97157401-97157401 8:96145173-96145173
82 GDF6 NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu) SNV Uncertain significance 965244 8:97172839-97172839 8:96160611-96160611
83 GDF6 NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly) SNV Uncertain significance 286405 rs886043381 8:97157434-97157434 8:96145206-96145206
84 GDF6 NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe) SNV Uncertain significance 968855 8:97172559-97172559 8:96160331-96160331
85 GDF6 NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup) Microsatellite Uncertain significance 968900 8:97157154-97157155 8:96144926-96144927
86 GDF6 NM_001001557.4(GDF6):c.407-5C>T SNV Likely benign 913681 8:97157757-97157757 8:96145529-96145529
87 GDF3 NM_020634.3(GDF3):c.480C>T (p.Thr160=) SNV Likely benign 772340 rs141133108 12:7843089-7843089 12:7690493-7690493
88 GDF6 NM_001001557.4(GDF6):c.483G>T (p.Leu161=) SNV Likely benign 772997 rs200585226 8:97157676-97157676 8:96145448-96145448
89 GDF6 NM_001001557.4(GDF6):c.870C>T (p.Phe290=) SNV Likely benign 364045 rs765928590 8:97157289-97157289 8:96145061-96145061
90 GDF6 NM_001001557.4(GDF6):c.24C>G (p.Leu8=) SNV Likely benign 707560 rs369859861 8:97172897-97172897 8:96160669-96160669
91 GDF6 NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) SNV Likely benign 707574 rs139075817 8:97172809-97172809 8:96160581-96160581
92 GDF3 NM_020634.3(GDF3):c.635C>T (p.Ser212Leu) SNV Likely benign 717943 rs372790667 12:7842934-7842934 12:7690338-7690338
93 GDF6 NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) SNV Likely benign 914077 8:97172671-97172671 8:96160443-96160443
94 GDF6 NM_001001557.4(GDF6):c.1251C>T (p.Pro417=) SNV Likely benign 914550 8:97156908-97156908 8:96144680-96144680
95 GDF6 NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) SNV Likely benign 364042 rs140782427 8:97156855-97156855 8:96144627-96144627
96 GDF6 NM_001001557.4(GDF6):c.852C>G (p.Ser284=) SNV Likely benign 364046 rs74498875 8:97157307-97157307 8:96145079-96145079
97 GDF6 NM_001001557.4(GDF6):c.96_98GTC[1] (p.Ser34del) Microsatellite Likely benign 470717 rs141468446 8:97172820-97172822 8:96160592-96160594
98 GDF6 NM_001001557.4(GDF6):c.955G>A (p.Ala319Thr) SNV Likely benign 912579 8:97157204-97157204 8:96144976-96144976
99 GDF6 NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys) SNV Likely benign 912580 8:97157342-97157342 8:96145114-96145114
100 GDF6 NM_001001557.4(GDF6):c.1233C>T (p.Asp411=) SNV Likely benign 364043 rs774375234 8:97156926-97156926 8:96144698-96144698
101 GDF6 NM_001001557.4(GDF6):c.255G>T (p.Pro85=) SNV Likely benign 256847 rs112296824 8:97172666-97172666 8:96160438-96160438
102 GDF6 NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) SNV Likely benign 364051 rs140579014 8:97172565-97172565 8:96160337-96160337
103 GDF6 NM_001001557.4(GDF6):c.*1671C>T SNV Benign 364011 rs191538930 8:97155120-97155120 8:96142892-96142892
104 GDF6 NM_001001557.4(GDF6):c.*2122C>T SNV Benign 364009 rs183472001 8:97154669-97154669 8:96142441-96142441
105 GDF6 NM_001001557.4(GDF6):c.*1084C>A SNV Benign 364014 rs77181285 8:97155707-97155707 8:96143479-96143479
106 GDF6 NM_001001557.4(GDF6):c.*172A>G SNV Benign 364037 rs115207215 8:97156619-97156619 8:96144391-96144391
107 GDF6 NM_001001557.4(GDF6):c.*711G>T SNV Benign 364020 rs73698505 8:97156080-97156080 8:96143852-96143852
108 GDF6 NM_001001557.4(GDF6):c.*380A>G SNV Benign 364023 rs2440199 8:97156411-97156411 8:96144183-96144183
109 GDF6 NM_001001557.4(GDF6):c.*998G>C SNV Benign 364015 rs114201878 8:97155793-97155793 8:96143565-96143565
110 GDF6 NM_001001557.4(GDF6):c.*781G>A SNV Benign 364018 rs528002823 8:97156010-97156010 8:96143782-96143782
111 GDF6 NM_001001557.4(GDF6):c.*165C>T SNV Benign 364038 rs117125307 8:97156626-97156626 8:96144398-96144398
112 GDF6 NM_001001557.4(GDF6):c.936G>C (p.Ser312=) SNV Benign 256851 rs148861809 8:97157223-97157223 8:96144995-96144995
113 GDF6 NM_001001557.4(GDF6):c.*842T>C SNV Benign 364017 rs192657480 8:97155949-97155949 8:96143721-96143721
114 GDF6 NM_001001557.4(GDF6):c.870C>T (p.Phe290=) SNV Benign 364045 rs765928590 8:97157289-97157289 8:96145061-96145061
115 GDF6 NM_001001557.4(GDF6):c.*28G>A SNV Benign 364041 rs367847329 8:97156763-97156763 8:96144535-96144535
116 GDF6 NM_001001557.4(GDF6):c.*2001A>G SNV Benign 364010 rs36028712 8:97154790-97154790 8:96142562-96142562
117 GDF6 NM_001001557.4(GDF6):c.*2195C>T SNV Benign 364007 rs114060293 8:97154596-97154596 8:96142368-96142368
118 GDF6 NM_001001557.4(GDF6):c.*1090G>C SNV Benign 364013 rs80085212 8:97155701-97155701 8:96143473-96143473
119 GDF6 NM_001001557.4(GDF6):c.*767T>C SNV Benign 364019 rs569599062 8:97156024-97156024 8:96143796-96143796
120 GDF6 NM_001001557.4(GDF6):c.255G>T (p.Pro85=) SNV Benign 256847 rs112296824 8:97172666-97172666 8:96160438-96160438
121 GDF6 NM_001001557.4(GDF6):c.852C>G (p.Ser284=) SNV Benign 364046 rs74498875 8:97157307-97157307 8:96145079-96145079
122 GDF6 NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) SNV Benign 364051 rs140579014 8:97172565-97172565 8:96160337-96160337
123 GDF6 NM_001001557.4(GDF6):c.*2216C>T SNV Benign 364005 rs7003079 8:97154575-97154575 8:96142347-96142347
124 GDF6 NM_001001557.4(GDF6):c.936G>C (p.Ser312=) SNV Benign 256851 rs148861809 8:97157223-97157223 8:96144995-96144995
125 GDF3 NM_020634.3(GDF3):c.982G>C (p.Val328Leu) SNV Benign 471501 rs2302516 12:7842587-7842587 12:7689991-7689991
126 GDF6 NM_001001557.4(GDF6):c.*577A>T SNV Benign 364022 rs75587676 8:97156214-97156214 8:96143986-96143986
127 GDF6 NM_001001557.4(GDF6):c.*2170A>C SNV Benign 364008 rs141085775 8:97154621-97154621 8:96142393-96142393
128 GDF6 NM_001001557.4(GDF6):c.*144G>A SNV Benign 364039 rs115887213 8:97156647-97156647 8:96144419-96144419
129 GDF6 NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) SNV Benign 707574 rs139075817 8:97172809-97172809 8:96160581-96160581
130 GDF3 NM_020634.3(GDF3):c.583C>T (p.Arg195Trp) SNV Benign 767184 rs112895783 12:7842986-7842986 12:7690390-7690390
131 GDF6 NM_001001557.4(GDF6):c.*1978G>A SNV Benign 913596 8:97154813-97154813 8:96142585-96142585

Expression for Isolated Klippel-Feil Syndrome

Search GEO for disease gene expression data for Isolated Klippel-Feil Syndrome.

Pathways for Isolated Klippel-Feil Syndrome

GO Terms for Isolated Klippel-Feil Syndrome

Biological processes related to Isolated Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.26 GDF6 GDF3
2 SMAD protein signal transduction GO:0060395 9.16 GDF6 GDF3
3 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 8.96 GDF6 GDF3
4 multicellular organism development GO:0007275 8.92 RIPPLY2 MEOX1 GDF6 GDF3

Molecular functions related to Isolated Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.96 GDF6 GDF3
2 growth factor activity GO:0008083 8.62 GDF6 GDF3

Sources for Isolated Klippel-Feil Syndrome

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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