MKKS
MCID: MCK005
MIFTS: 54

Mckusick-Kaufman Syndrome (MKKS)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Mckusick-Kaufman Syndrome

MalaCards integrated aliases for Mckusick-Kaufman Syndrome:

Name: Mckusick-Kaufman Syndrome 57 24 25 59 75 37 13 55 40
Kaufman-Mckusick Syndrome 57 25 59 73
Hydrometrocolpos, Postaxial Polydactyly, and Congenital Heart Malformation 57 53 25
Mckusick Kaufman Syndrome 53 29 6
Mkks 57 53 75
Hmcs 57 53 25
Hydrometrocolpos Syndrome 57 53
Hydrometrocolpos, Postaxial Polydactyly, and Congenital Heart Malformation; Hmcs 57
Hydrometrocolpos-Postaxial Polydactyly Syndrome 59
Kaufman Mckusick Syndrome 53
Mckusickkaufman Syndrome 76
Mks 25

Characteristics:

Orphanet epidemiological data:

59
mckusick-kaufman syndrome
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
because of overlap with bardet-biedl syndrome , patients should be followed by ophthalmology for development of cone-rod dystrophy until at least 10 years of age
found predominantly in the amish population
allelic to bardet-biedl syndrome 6


HPO:

32
mckusick-kaufman syndrome:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Non-penetrance has been estimated to occur in at least 9% of affected amish males and 3% of affected amish females [stone et al 1998]...

Classifications:



Summaries for Mckusick-Kaufman Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2473Disease definitionMcKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.Visit the Orphanet disease page for more resources.

MalaCards based summary : Mckusick-Kaufman Syndrome, also known as kaufman-mckusick syndrome, is related to bardet-biedl syndrome 6 and bardet-biedl syndrome 15. An important gene associated with Mckusick-Kaufman Syndrome is MKKS (McKusick-Kaufman Syndrome), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include heart, kidney and lung, and related phenotypes are finger syndactyly and high palate

Genetics Home Reference : 25 McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities.

OMIM : 57 McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011). (236700)

UniProtKB/Swiss-Prot : 75 McKusick-Kaufman syndrome: Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.

Wikipedia : 76 McKusick´┐Ż??Kaufman syndrome is a genetic condition associated with... more...

GeneReviews: NBK1502

Related Diseases for Mckusick-Kaufman Syndrome

Diseases related to Mckusick-Kaufman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 6 32.0 BBS1 BBS2 BBS4 BBS7 MKKS
2 bardet-biedl syndrome 15 31.4 BBS2 BBS4 MKKS
3 fundus dystrophy 31.2 BBS1 BBS12 BBS2 BBS4 MKKS
4 physical disorder 31.2 GLI3 MKKS
5 body mass index quantitative trait locus 11 31.1 BBS1 BBS2 BBS4 MKKS
6 bardet-biedl syndrome 1 30.9 BBS1 BBS2 BBS4 BBS7 MKKS
7 bardet-biedl syndrome 2 30.7 BBS2 MKKS
8 pallister-hall syndrome 30.4 GLI3 MKKS
9 polydactyly 29.8 BBS1 BBS2 BBS4 BBS7 GLI3 MKKS
10 tetralogy of fallot 29.6 BBS2 BBS4 BBS7 MKKS
11 retinitis pigmentosa 29.6 BBS1 BBS12 BBS2 BBS4 MKKS
12 bardet-biedl syndrome 29.6 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
13 hypertelorism, microtia, facial clefting syndrome 12.1
14 meckel syndrome, type 1 11.7
15 menkes disease 11.4
16 meckel syndrome, type 7 11.1
17 haim-munk syndrome 11.1
18 laurence-moon syndrome 11.1
19 thrombocytopenia-absent radius syndrome 11.1
20 pyosalpinx 11.1
21 anthrax disease 11.1
22 hemometra 11.1
23 bardet-biedl syndrome 10 10.5
24 bardet-biedl syndrome 11 10.5
25 bardet-biedl syndrome 12 10.5
26 anorectal anomalies 10.2
27 tracheoesophageal fistula with or without esophageal atresia 10.2
28 urinary tract infections, recurrent 10.2
29 leber congenital amaurosis 4 10.2
30 hydrops fetalis, nonimmune, and/or atrial septal defect 10.2
31 esophageal atresia 10.2
32 heart disease 10.2
33 endometriosis 10.2
34 retinitis 10.2
35 intestinal obstruction 10.2
36 fetal edema 10.2
37 hydrops fetalis 10.2
38 tracheoesophageal fistula 10.2
39 vaginal atresia 10.2
40 microcytic anemia 10.2
41 hypertelorism 10.1
42 microtia 10.1
43 leukemia 10.1
44 nonsyndromic retinitis pigmentosa 10.0 BBS1 BBS2
45 prostate cancer 10.0
46 retinoblastoma 10.0
47 lymphocytic leukemia 10.0
48 teratocarcinoma 10.0
49 ischemia 10.0
50 vaccinia 10.0

Graphical network of the top 20 diseases related to Mckusick-Kaufman Syndrome:



Diseases related to Mckusick-Kaufman Syndrome

Symptoms & Phenotypes for Mckusick-Kaufman Syndrome

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary Internal Genitalia Female:
rectovaginal fistula
vaginal atresia
hydrometrocolpos
vesicovaginal fistula
transverse vaginal membrane
more
Skeletal Hands:
syndactyly
mesoaxial polydactyly
postaxial polydactyly

Muscle Soft Tissue:
leg edema

Respiratory Lung:
hypoplastic lungs

Skeletal Pelvis:
congenital dislocation of the hip

Abdomen Gastrointestinal:
rectovaginal fistula
hirschsprung disease (12%)
imperforate anus (8%)

Genitourinary Ureters:
hydroureter

Cardiovascular Heart:
congenital heart disease

Genitourinary Kidneys:
polycystic kidney
hydronephrosis (secondary to ureteral compression from hydrometrocolpos)

Genitourinary Bladder:
vesicovaginal fistula


Clinical features from OMIM:

236700

Human phenotypes related to Mckusick-Kaufman Syndrome:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
2 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
5 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
6 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
7 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
8 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
9 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
10 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
11 hypoplastic left heart 59 32 occasional (7.5%) Occasional (29-5%) HP:0004383
12 renal hypoplasia/aplasia 59 32 very rare (1%) Very rare (<4-1%) HP:0008678
13 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
14 abnormality of the metacarpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0001163
15 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
16 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
17 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
18 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
19 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
20 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
21 tarsal synostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008368
22 postaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001162
23 postaxial foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001830
24 ectopic anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0004397
25 urogenital sinus anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0100779
26 glandular hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000807
27 urethral stricture 59 32 occasional (7.5%) Occasional (29-5%) HP:0012227
28 hydrometrocolpos 59 32 hallmark (90%) Very frequent (99-80%) HP:0030010
29 edema 32 HP:0000969
30 congenital hip dislocation 32 HP:0001374
31 polycystic kidney dysplasia 32 HP:0000113
32 rectovaginal fistula 32 HP:0000143
33 hydroureter 32 HP:0000072
34 pulmonary hypoplasia 32 HP:0002089
35 abnormality of cardiovascular system morphology 32 HP:0030680
36 edema of the lower limbs 32 HP:0010741
37 syndactyly 32 HP:0001159
38 vaginal atresia 32 HP:0000148
39 mesoaxial hand polydactyly 32 HP:0006159
40 transverse vaginal septum 32 HP:0000145
41 vesicovaginal fistula 32 HP:0001586

GenomeRNAi Phenotypes related to Mckusick-Kaufman Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.17 BBS1 BBS4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.17 BBS1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.17 BBS1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.17 BBS1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.17 BBS1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.17 BBS1

MGI Mouse Phenotypes related to Mckusick-Kaufman Syndrome:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
2 behavior/neurological MP:0005386 9.99 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
3 cellular MP:0005384 9.97 BBS1 BBS2 BBS4 BBS7 GLI3 MKKS
4 homeostasis/metabolism MP:0005376 9.95 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
5 craniofacial MP:0005382 9.88 BBS1 BBS4 BBS7 GLI3 MKKS
6 nervous system MP:0003631 9.87 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
7 adipose tissue MP:0005375 9.83 BBS1 BBS12 BBS2 BBS4
8 limbs/digits/tail MP:0005371 9.77 BBS1 BBS2 BBS7 GLI3 MKKS
9 hearing/vestibular/ear MP:0005377 9.73 BBS1 BBS4 GLI3 MKKS
10 renal/urinary system MP:0005367 9.73 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
11 reproductive system MP:0005389 9.63 BBS1 BBS2 BBS4 BBS7 GLI3 MKKS
12 taste/olfaction MP:0005394 9.43 BBS1 BBS2 BBS4 BBS7 GLI3 MKKS
13 vision/eye MP:0005391 9.17 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3

Drugs & Therapeutics for Mckusick-Kaufman Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404

Search NIH Clinical Center for Mckusick-Kaufman Syndrome

Genetic Tests for Mckusick-Kaufman Syndrome

Genetic tests related to Mckusick-Kaufman Syndrome:

# Genetic test Affiliating Genes
1 Mckusick Kaufman Syndrome 29 MKKS

Anatomical Context for Mckusick-Kaufman Syndrome

MalaCards organs/tissues related to Mckusick-Kaufman Syndrome:

41
Heart, Kidney, Lung, Bone, Eye, Prostate

Publications for Mckusick-Kaufman Syndrome

Articles related to Mckusick-Kaufman Syndrome:

(show all 44)
# Title Authors Year
1
Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome. ( 28153592 )
2017
2
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. ( 26900326 )
2016
3
Mckusick-kaufman syndrome: diagnosis and management. ( 26023484 )
2014
4
Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome. ( 25017277 )
2014
5
McKusick Kaufman Syndrome, Complications Arising at Puberty. ( 24656697 )
2014
6
Mckusick-kaufman syndrome presenting as acute intestinal obstruction. ( 26023427 )
2013
7
Translational repression of the McKusick-Kaufman syndrome transcript by unique upstream open reading frames encoding mitochondrial proteins with alternative polyadenylation sites. ( 23671934 )
2013
8
Our experience with McKusick-Kaufman syndrome patients. ( 21954533 )
2011
9
A case of McKusick-Kaufman Syndrome. ( 21991762 )
2011
10
A case of McKusick-Kaufman syndrome. ( 21829414 )
2011
11
McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder. ( 20091696 )
2010
12
McKusick-Kaufman Syndrome: Atretic Upper Vaginal Pouch; an Unusual Urogenital MR Finding. ( 22470656 )
2009
13
Screening of 336 single-nucleotide polymorphisms in 85 obesity-related genes revealed McKusick-Kaufman syndrome gene variants are associated with metabolic syndrome. ( 19247371 )
2009
14
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. ( 18478223 )
2008
15
McKusick-Kaufman Syndrome (MK catalogue #236700) presenting prenatally as fetal abdominal mass. ( 15660106 )
2005
16
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. ( 16104012 )
2005
17
Unusual presentation of McKusick-Kaufman syndrome in a female Bedouin Arab baby. ( 16418967 )
2005
18
A female with complete lack of MA1llerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? ( 15266619 )
2004
19
Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. ( 15340663 )
2004
20
Anaesthetic management in McKusick-Kaufman syndrome. ( 12562491 )
2003
21
The Mckusick-Kaufman syndrome: report of a case with some associations. ( 12026212 )
2002
22
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. ( 12107442 )
2002
23
Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review. ( 11102925 )
2000
24
Mutation of a gene encoding a putative chaperonin causes McKusick- Kaufman syndrome. ( 10802661 )
2000
25
Genetic and physical mapping of the McKusick-Kaufman syndrome. ( 9467007 )
1998
26
Term pregnancy in a patient with McKusick-Kaufman syndrome. ( 9648816 )
1998
27
-A difficult intubation of an infant with McKusick-Kaufman syndrome. Failure of the laryngeal mask-fibroscope sequence-. ( 9750736 )
1998
28
Variable phenotype in Kaufman-McKusick syndrome: report of an inbred Muslim family and review of the literature. ( 9689988 )
1998
29
Neonatal fellowship. McKusick-Kaufman syndrome with legal complications of hydrometrocolpos and congenital endometriosis. ( 8817436 )
1996
30
McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature. ( 8209897 )
1994
31
The McKusick-Kaufman syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases. ( 7811428 )
1994
32
McKusick-Kaufman Syndrome ( 20301675 )
1993
33
McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period. ( 1505577 )
1992
34
McKusick-Kaufman syndrome: report of the 66th case complicated by a staphyloma of the left eye. ( 1749628 )
1991
35
Hydrops fetalis in the McKusick-Kaufman syndrome: a case report. ( 1853883 )
1991
36
Neonatal hydrometrocolpos associated with McKusick Kaufman syndrome. ( 2807483 )
1989
37
McKusick-Kaufman syndrome: report of an instructive family. ( 2564737 )
1989
38
The Kaufman-McKusick syndrome: another association. ( 2681663 )
1989
39
Rare syndromes. The Kaufman-McKusick syndrome. A review of the 44 cases reported in the literature. ( 3314666 )
1987
40
Abdominal distension in Kaufman-McKusick syndrome. ( 3631145 )
1987
41
Abdominal distension in Kaufman-McKusick syndrome. ( 3535500 )
1986
42
Origin of the "associated" anomalies in Kaufman-McKusick syndrome. ( 6846407 )
1983
43
New features of the McKusick-Kaufman syndrome. ( 7139096 )
1982
44
The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease. ( 448491 )
1979

Variations for Mckusick-Kaufman Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Mckusick-Kaufman Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 MKKS p.Tyr37Cys VAR_009864 rs74315396
2 MKKS p.His84Tyr VAR_009866 rs281797258

ClinVar genetic disease variations for Mckusick-Kaufman Syndrome:

6 (show top 50) (show all 101)
# Gene Variation Type Significance SNP ID Assembly Location
1 MKKS NM_170784.2(MKKS): c.250C> T (p.His84Tyr) single nucleotide variant no interpretation for the single variant rs281797258 GRCh37 Chromosome 20, 10393913: 10393913
2 MKKS NM_170784.2(MKKS): c.250C> T (p.His84Tyr) single nucleotide variant no interpretation for the single variant rs281797258 GRCh38 Chromosome 20, 10413265: 10413265
3 MKKS NM_170784.2(MKKS): c.110A> G (p.Tyr37Cys) single nucleotide variant Pathogenic rs74315396 GRCh37 Chromosome 20, 10394053: 10394053
4 MKKS NM_170784.2(MKKS): c.110A> G (p.Tyr37Cys) single nucleotide variant Pathogenic rs74315396 GRCh38 Chromosome 20, 10413405: 10413405
5 MKKS MKKS, 2-BP DEL, 2111GG deletion Pathogenic
6 MKKS NM_170784.2(MKKS): c.117C> T (p.Pro39=) single nucleotide variant Benign rs16991547 GRCh37 Chromosome 20, 10394046: 10394046
7 MKKS NM_170784.2(MKKS): c.117C> T (p.Pro39=) single nucleotide variant Benign rs16991547 GRCh38 Chromosome 20, 10413398: 10413398
8 MKKS NM_170784.2(MKKS): c.534C> T (p.Ile178=) single nucleotide variant Benign/Likely benign rs17852625 GRCh37 Chromosome 20, 10393629: 10393629
9 MKKS NM_170784.2(MKKS): c.534C> T (p.Ile178=) single nucleotide variant Benign/Likely benign rs17852625 GRCh38 Chromosome 20, 10412981: 10412981
10 MKKS NM_018848.3(MKKS): c.724G> T (p.Ala242Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs74315394 GRCh37 Chromosome 20, 10393439: 10393439
11 MKKS NM_018848.3(MKKS): c.724G> T (p.Ala242Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs74315394 GRCh38 Chromosome 20, 10412791: 10412791
12 MKKS NM_018848.3(MKKS): c.1549C> T (p.Arg517Cys) single nucleotide variant Benign/Likely benign rs1547 GRCh37 Chromosome 20, 10386059: 10386059
13 MKKS NM_018848.3(MKKS): c.1549C> T (p.Arg517Cys) single nucleotide variant Benign/Likely benign rs1547 GRCh38 Chromosome 20, 10405411: 10405411
14 MKKS NM_018848.3(MKKS): c.1595G> T (p.Gly532Val) single nucleotide variant Benign/Likely benign rs1545 GRCh37 Chromosome 20, 10386013: 10386013
15 MKKS NM_018848.3(MKKS): c.1595G> T (p.Gly532Val) single nucleotide variant Benign/Likely benign rs1545 GRCh38 Chromosome 20, 10405365: 10405365
16 MKKS NM_018848.3(MKKS): c.1015A> G (p.Ile339Val) single nucleotide variant Conflicting interpretations of pathogenicity rs137853909 GRCh37 Chromosome 20, 10389422: 10389422
17 MKKS NM_018848.3(MKKS): c.1015A> G (p.Ile339Val) single nucleotide variant Conflicting interpretations of pathogenicity rs137853909 GRCh38 Chromosome 20, 10408774: 10408774
18 MKKS NM_018848.3(MKKS): c.1553G> A (p.Arg518His) single nucleotide variant Likely benign rs149051148 GRCh37 Chromosome 20, 10386055: 10386055
19 MKKS NM_018848.3(MKKS): c.1553G> A (p.Arg518His) single nucleotide variant Likely benign rs149051148 GRCh38 Chromosome 20, 10405407: 10405407
20 MKKS NM_018848.3(MKKS): c.425T> C (p.Val142Ala) single nucleotide variant Uncertain significance rs863224773 GRCh37 Chromosome 20, 10393738: 10393738
21 MKKS NM_018848.3(MKKS): c.425T> C (p.Val142Ala) single nucleotide variant Uncertain significance rs863224773 GRCh38 Chromosome 20, 10413090: 10413090
22 MKKS NM_018848.3(MKKS): c.638C> G (p.Thr213Ser) single nucleotide variant Uncertain significance rs780570415 GRCh37 Chromosome 20, 10393525: 10393525
23 MKKS NM_018848.3(MKKS): c.638C> G (p.Thr213Ser) single nucleotide variant Uncertain significance rs780570415 GRCh38 Chromosome 20, 10412877: 10412877
24 MKKS NM_018848.3(MKKS): c.*46G> T single nucleotide variant Likely benign rs74703166 GRCh38 Chromosome 20, 10405201: 10405201
25 MKKS NM_018848.3(MKKS): c.*46G> T single nucleotide variant Likely benign rs74703166 GRCh37 Chromosome 20, 10385849: 10385849
26 MKKS NM_018848.3(MKKS): c.*38A> G single nucleotide variant Likely benign rs79940214 GRCh38 Chromosome 20, 10405209: 10405209
27 MKKS NM_018848.3(MKKS): c.*38A> G single nucleotide variant Likely benign rs79940214 GRCh37 Chromosome 20, 10385857: 10385857
28 MKKS NM_018848.3(MKKS): c.1462G> A (p.Ala488Thr) single nucleotide variant Benign/Likely benign rs61734546 GRCh37 Chromosome 20, 10386146: 10386146
29 MKKS NM_018848.3(MKKS): c.1462G> A (p.Ala488Thr) single nucleotide variant Benign/Likely benign rs61734546 GRCh38 Chromosome 20, 10405498: 10405498
30 MKKS NM_018848.3(MKKS): c.*460T> C single nucleotide variant Uncertain significance rs886056496 GRCh37 Chromosome 20, 10385435: 10385435
31 MKKS NM_018848.3(MKKS): c.*460T> C single nucleotide variant Uncertain significance rs886056496 GRCh38 Chromosome 20, 10404787: 10404787
32 MKKS NM_018848.3(MKKS): c.1269C> T (p.His423=) single nucleotide variant Uncertain significance rs144313303 GRCh37 Chromosome 20, 10388267: 10388267
33 MKKS NM_018848.3(MKKS): c.1269C> T (p.His423=) single nucleotide variant Uncertain significance rs144313303 GRCh38 Chromosome 20, 10407619: 10407619
34 MKKS NM_018848.3(MKKS): c.-22A> C single nucleotide variant Uncertain significance rs531656259 GRCh37 Chromosome 20, 10394184: 10394184
35 MKKS NM_018848.3(MKKS): c.-22A> C single nucleotide variant Uncertain significance rs531656259 GRCh38 Chromosome 20, 10413536: 10413536
36 MKKS NM_018848.3(MKKS): c.-306A> G single nucleotide variant Uncertain significance rs3748466 GRCh37 Chromosome 20, 10394468: 10394468
37 MKKS NM_018848.3(MKKS): c.-306A> G single nucleotide variant Uncertain significance rs3748466 GRCh38 Chromosome 20, 10413820: 10413820
38 MKKS NM_018848.3(MKKS): c.-406G> C single nucleotide variant Uncertain significance rs886056500 GRCh37 Chromosome 20, 10394568: 10394568
39 MKKS NM_018848.3(MKKS): c.-406G> C single nucleotide variant Uncertain significance rs886056500 GRCh38 Chromosome 20, 10413920: 10413920
40 MKKS NM_018848.3(MKKS): c.-496T> G single nucleotide variant Uncertain significance rs554863155 GRCh38 Chromosome 20, 10420606: 10420606
41 MKKS NM_018848.3(MKKS): c.-496T> G single nucleotide variant Uncertain significance rs554863155 GRCh37 Chromosome 20, 10401254: 10401254
42 MKKS NM_018848.3(MKKS): c.-557A> G single nucleotide variant Uncertain significance rs145467994 GRCh38 Chromosome 20, 10420667: 10420667
43 MKKS NM_018848.3(MKKS): c.-557A> G single nucleotide variant Uncertain significance rs145467994 GRCh37 Chromosome 20, 10401315: 10401315
44 MKKS NM_018848.3(MKKS): c.-781delG deletion Uncertain significance rs566962031 GRCh38 Chromosome 20, 10431816: 10431816
45 MKKS NM_018848.3(MKKS): c.-781delG deletion Uncertain significance rs566962031 GRCh37 Chromosome 20, 10412464: 10412464
46 MKKS NM_018848.3(MKKS): c.*435G> A single nucleotide variant Likely benign rs6108549 GRCh37 Chromosome 20, 10385460: 10385460
47 MKKS NM_018848.3(MKKS): c.*435G> A single nucleotide variant Likely benign rs6108549 GRCh38 Chromosome 20, 10404812: 10404812
48 MKKS NM_018848.3(MKKS): c.*392T> C single nucleotide variant Likely benign rs2294901 GRCh38 Chromosome 20, 10404855: 10404855
49 MKKS NM_018848.3(MKKS): c.*392T> C single nucleotide variant Likely benign rs2294901 GRCh37 Chromosome 20, 10385503: 10385503
50 MKKS NM_018848.3(MKKS): c.1702G> C (p.Asp568His) single nucleotide variant Uncertain significance rs886056497 GRCh37 Chromosome 20, 10385906: 10385906

Expression for Mckusick-Kaufman Syndrome

Search GEO for disease gene expression data for Mckusick-Kaufman Syndrome.

Pathways for Mckusick-Kaufman Syndrome

Pathways related to Mckusick-Kaufman Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
2
Show member pathways
11.13 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS

GO Terms for Mckusick-Kaufman Syndrome

Cellular components related to Mckusick-Kaufman Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.88 BBS1 BBS2 BBS4 BBS7 MKKS
2 cell projection GO:0042995 9.85 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
3 centrosome GO:0005813 9.76 BBS1 BBS4 BBS7 MKKS
4 microtubule organizing center GO:0005815 9.72 BBS1 BBS2 BBS4 BBS7 MKKS
5 cilium GO:0005929 9.63 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
6 motile cilium GO:0031514 9.61 BBS2 BBS4 MKKS
7 axoneme GO:0005930 9.58 BBS1 BBS7 GLI3
8 ciliary membrane GO:0060170 9.56 BBS1 BBS2 BBS4 BBS7
9 photoreceptor outer segment GO:0001750 9.49 BBS4 BBS7
10 ciliary basal body GO:0036064 9.35 BBS1 BBS2 BBS4 BBS7 MKKS
11 BBSome GO:0034464 8.92 BBS1 BBS2 BBS4 BBS7

Biological processes related to Mckusick-Kaufman Syndrome according to GeneCards Suite gene sharing:

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.97 BBS1 BBS2 BBS4 BBS7 MKKS
2 protein transport GO:0015031 9.94 BBS1 BBS2 BBS4 BBS7
3 sensory perception of smell GO:0007608 9.86 BBS1 BBS4 MKKS
4 cell projection organization GO:0030030 9.86 BBS1 BBS2 BBS4 BBS7
5 negative regulation of gene expression GO:0010629 9.84 BBS2 BBS4 MKKS
6 heart development GO:0007507 9.83 BBS7 GLI3 MKKS
7 fat cell differentiation GO:0045444 9.8 BBS2 BBS4 BBS7 MKKS
8 visual perception GO:0007601 9.8 BBS1 BBS2 BBS4 BBS7 MKKS
9 protein localization GO:0008104 9.77 BBS2 BBS4 BBS7
10 cilium assembly GO:0060271 9.77 BBS1 BBS2 BBS4 BBS7 MKKS
11 cerebral cortex development GO:0021987 9.76 BBS2 BBS4 MKKS
12 hippocampus development GO:0021766 9.76 BBS2 BBS4 GLI3 MKKS
13 heart looping GO:0001947 9.75 BBS4 BBS7 MKKS
14 positive regulation of multicellular organism growth GO:0040018 9.71 BBS2 BBS4 MKKS
15 brain morphogenesis GO:0048854 9.7 BBS2 BBS4 MKKS
16 spermatid development GO:0007286 9.69 BBS4 MKKS
17 striatum development GO:0021756 9.69 BBS2 BBS4 MKKS
18 cartilage development GO:0051216 9.68 BBS2 MKKS
19 determination of left/right symmetry GO:0007368 9.68 BBS7 MKKS
20 smoothened signaling pathway GO:0007224 9.68 BBS7 GLI3
21 social behavior GO:0035176 9.68 BBS4 MKKS
22 negative regulation of GTPase activity GO:0034260 9.67 BBS4 MKKS
23 limb development GO:0060173 9.67 BBS7 GLI3
24 retina homeostasis GO:0001895 9.67 BBS1 BBS4
25 adult behavior GO:0030534 9.65 BBS2 BBS4
26 Golgi to plasma membrane protein transport GO:0043001 9.65 BBS1 BBS2
27 intracellular transport GO:0046907 9.65 BBS4 MKKS
28 response to leptin GO:0044321 9.65 BBS2 BBS4 MKKS
29 protein localization to cilium GO:0061512 9.64 BBS1 BBS4
30 vasodilation GO:0042311 9.63 BBS2 MKKS
31 protein localization to organelle GO:0033365 9.63 BBS2 BBS4
32 chaperone-mediated protein complex assembly GO:0051131 9.62 BBS12 MKKS
33 face development GO:0060324 9.62 BBS4 MKKS
34 negative regulation of actin filament polymerization GO:0030837 9.61 BBS4 MKKS
35 regulation of stress fiber assembly GO:0051492 9.61 BBS4 MKKS
36 leptin-mediated signaling pathway GO:0033210 9.61 BBS2 BBS4 MKKS
37 artery smooth muscle contraction GO:0014824 9.6 BBS2 MKKS
38 pigment granule aggregation in cell center GO:0051877 9.55 BBS7 MKKS
39 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.5 BBS2 BBS4 MKKS
40 melanosome transport GO:0032402 9.46 BBS2 BBS4 BBS7 MKKS
41 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.43 BBS2 BBS4 MKKS
42 non-motile cilium assembly GO:1905515 9.35 BBS1 BBS2 BBS4 BBS7 MKKS
43 photoreceptor cell maintenance GO:0045494 9.02 BBS1 BBS12 BBS2 BBS4 MKKS

Molecular functions related to Mckusick-Kaufman Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 9.02 BBS1 BBS2 BBS4 BBS7 MKKS

Sources for Mckusick-Kaufman Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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