MCID: MCK005
MIFTS: 55

Mckusick-Kaufman Syndrome

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Mckusick-Kaufman Syndrome

MalaCards integrated aliases for Mckusick-Kaufman Syndrome:

Name: Mckusick-Kaufman Syndrome 53 23 24 55 71 13 51
Kaufman-Mckusick Syndrome 53 24 55 69
Hydrometrocolpos, Postaxial Polydactyly, and Congenital Heart Malformation 53 49 24
Mkks 53 49 71
Hmcs 53 49 24
Hydrometrocolpos Syndrome 53 49
Mckusick Kaufman Syndrome 49 28
Hydrometrocolpos, Postaxial Polydactyly, and Congenital Heart Malformation; Hmcs 53
Hydrometrocolpos-Postaxial Polydactyly Syndrome 55
Kaufman Mckusick Syndrome 49
Mks 24

Characteristics:

Orphanet epidemiological data:

55
mckusick-kaufman syndrome
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Childhood;

OMIM:

53
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:

31
mckusick-kaufman syndrome:
Inheritance autosomal recessive inheritance


GeneReviews:

23
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 : 49 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. Last updated: 10/1/2016

MalaCards based summary : Mckusick-Kaufman Syndrome, also known as kaufman-mckusick syndrome, is related to bardet-biedl syndrome 6 and pallister-hall syndrome, and has symptoms including finger syndactyly, high palate and intellectual disability. 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. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and lung, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

OMIM : 53 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 : 71 McKusick-Kaufman syndrome: Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.

Genetics Home Reference : 24 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.

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 67)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 6 30.9 BBS1 BBS2 BBS4 BBS7 MKKS
2 pallister-hall syndrome 30.1 GLI3 MKKS
3 body mass index quantitative trait locus 11 29.1 BBS1 BBS2 BBS4 MKKS
4 retinitis pigmentosa 28.6 BBS1 BBS12 BBS2 BBS4 MKKS
5 polydactyly 28.3 BBS1 BBS2 BBS4 BBS7 GLI3 MKKS
6 tetralogy of fallot 28.2 BBS1 BBS2 BBS4 BBS7 MKKS
7 bardet-biedl syndrome 10 28.2 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
8 bardet-biedl syndrome 12 28.2 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
9 bardet-biedl syndrome 2 28.2 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
10 bardet-biedl syndrome 11 28.2 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
11 bardet-biedl syndrome 28.1 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
12 hypertelorism, microtia, facial clefting syndrome 11.9
13 meckel syndrome, type 1 11.5
14 menkes disease 11.2
15 meckel syndrome, type 7 11.0
16 vaginitis 10.2
17 microcytic anemia 10.1
18 anorectal anomalies 10.1
19 tracheoesophageal fistula with or without esophageal atresia 10.1
20 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
21 hypothalamic hamartomas 10.1
22 body mass index quantitative trait locus 9 10.1
23 body mass index quantitative trait locus 8 10.1
24 urinary tract infections, recurrent 10.1
25 leber congenital amaurosis 4 10.1
26 body mass index quantitative trait locus 4 10.1
27 body mass index quantitative trait locus 10 10.1
28 body mass index quantitative trait locus 7 10.1
29 body mass index quantitative trait locus 12 10.1
30 body mass index quantitative trait locus 14 10.1
31 body mass index quantitative trait locus 18 10.1
32 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
33 esophageal atresia 10.1
34 heart disease 10.1
35 esophagitis 10.1
36 endometriosis 10.1
37 retinitis 10.1
38 intestinal obstruction 10.1
39 hydrops fetalis 10.1
40 tracheoesophageal fistula 10.1
41 vaginal atresia 10.1
42 hypertelorism 10.0
43 microtia 10.0
44 nonsyndromic retinitis pigmentosa 10.0 BBS1 BBS2
45 alstrom syndrome 10.0 BBS1 BBS2
46 leukemia 10.0
47 physical disorder 9.9 GLI3 MKKS
48 blood group, i system 9.9
49 xanthinuria 9.9
50 lymphoblastic leukemia 9.9

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:

53
Genitourinary Internal Genitalia Male:
cryptorchidism

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

Muscle Soft Tissue:
leg edema

Respiratory Lung:
hypoplastic lungs

Skeletal Pelvis:
congenital dislocation of the hip

Abdomen Gastroin testinal:
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:

55 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
2 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
3 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
4 failure to thrive 55 31 occasional (7.5%) Occasional (29-5%) HP:0001508
5 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
6 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
7 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
8 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
9 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
10 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
11 hypoplastic left heart 55 31 occasional (7.5%) Occasional (29-5%) HP:0004383
12 renal hypoplasia/aplasia 55 31 very rare (1%) Very rare (<4-1%) HP:0008678
13 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%) HP:0002251
14 abnormality of the metacarpal bones 55 31 occasional (7.5%) Occasional (29-5%) HP:0001163
15 multicystic kidney dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000003
16 brachydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001156
17 anal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002023
18 tetralogy of fallot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001636
19 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
20 hydronephrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000126
21 tarsal synostosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008368
22 postaxial hand polydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001162
23 postaxial foot polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001830
24 ectopic anus 55 31 occasional (7.5%) Occasional (29-5%) HP:0004397
25 urogenital sinus anomaly 55 31 frequent (33%) Frequent (79-30%) HP:0100779
26 glandular hypospadias 55 31 frequent (33%) Frequent (79-30%) HP:0000807
27 urethral stricture 55 31 occasional (7.5%) Occasional (29-5%) HP:0012227
28 hydrometrocolpos 55 31 hallmark (90%) Very frequent (99-80%) HP:0030010
29 edema 31 HP:0000969
30 polycystic kidney dysplasia 31 HP:0000113
31 rectovaginal fistula 31 HP:0000143
32 hydroureter 31 HP:0000072
33 abnormality of cardiovascular system morphology 31 HP:0030680
34 edema of the lower limbs 31 HP:0010741
35 pulmonary hypoplasia 31 HP:0002089
36 congenital hip dislocation 31 HP:0001374
37 syndactyly 31 HP:0001159
38 vaginal atresia 31 HP:0000148
39 mesoaxial hand polydactyly 31 HP:0006159
40 transverse vaginal septum 31 HP:0000145
41 vesicovaginal fistula 31 HP:0001586

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

25
# 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:

43 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
2 growth/size/body region MP:0005378 10.02 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
3 cellular MP:0005384 10 BBS1 BBS2 BBS4 BBS7 GLI3 MKKS
4 homeostasis/metabolism MP:0005376 9.98 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
5 cardiovascular system MP:0005385 9.93 BBS1 BBS4 BBS7 GLI3 MKKS
6 craniofacial MP:0005382 9.91 BBS1 BBS4 BBS7 GLI3 MKKS
7 nervous system MP:0003631 9.91 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
8 adipose tissue MP:0005375 9.86 BBS1 BBS12 BBS2 BBS4
9 digestive/alimentary MP:0005381 9.8 BBS2 BBS4 BBS7 GLI3
10 limbs/digits/tail MP:0005371 9.8 BBS1 BBS2 BBS7 GLI3 MKKS
11 renal/urinary system MP:0005367 9.8 BBS4 BBS7 GLI3 BBS1 BBS12 BBS2
12 hearing/vestibular/ear MP:0005377 9.76 BBS1 BBS4 GLI3 MKKS
13 reproductive system MP:0005389 9.73 BBS1 BBS2 BBS4 BBS7 GLI3 MKKS
14 respiratory system MP:0005388 9.46 BBS1 BBS4 GLI3 MKKS
15 taste/olfaction MP:0005394 9.43 BBS1 BBS2 BBS4 BBS7 GLI3 MKKS
16 vision/eye MP:0005391 9.17 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3

Drugs & Therapeutics for Mckusick-Kaufman Syndrome

Drugs for Mckusick-Kaufman Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666

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 28 MKKS

Anatomical Context for Mckusick-Kaufman Syndrome

MalaCards organs/tissues related to Mckusick-Kaufman Syndrome:

38
Heart, Kidney, Lung, Bone, Eye

Publications for Mckusick-Kaufman Syndrome

Articles related to Mckusick-Kaufman Syndrome:

(show all 38)
# 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, Complications Arising at Puberty. ( 24656697 )
2014
4
Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome. ( 25017277 )
2014
5
Mckusick-kaufman syndrome: diagnosis and management. ( 26023484 )
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
A case of McKusick-Kaufman syndrome. ( 21829414 )
2011
9
A case of McKusick-Kaufman Syndrome. ( 21991762 )
2011
10
Our experience with McKusick-Kaufman syndrome patients. ( 21954533 )
2011
11
McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder. ( 20091696 )
2010
12
Screening of 336 single-nucleotide polymorphisms in 85 obesity-related genes revealed McKusick-Kaufman syndrome gene variants are associated with metabolic syndrome. ( 19247371 )
2009
13
McKusick-Kaufman Syndrome: Atretic Upper Vaginal Pouch; an Unusual Urogenital MR Finding. ( 22470656 )
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
Unusual presentation of McKusick-Kaufman syndrome in a female Bedouin Arab baby. ( 16418967 )
2005
16
McKusick-Kaufman Syndrome (MK catalogue #236700) presenting prenatally as fetal abdominal mass. ( 15660106 )
2005
17
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. ( 16104012 )
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
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. ( 10465109 )
1999
26
Term pregnancy in a patient with McKusick-Kaufman syndrome. ( 9648816 )
1998
27
Genetic and physical mapping of the McKusick-Kaufman syndrome. ( 9467007 )
1998
28
Neonatal fellowship. McKusick-Kaufman syndrome with legal complications of hydrometrocolpos and congenital endometriosis. ( 8817436 )
1996
29
The McKusick-Kaufman syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases. ( 7811428 )
1994
30
McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature. ( 8209897 )
1994
31
McKusick-Kaufman Syndrome ( 20301675 )
1993
32
McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period. ( 1505577 )
1992
33
Hydrops fetalis in the McKusick-Kaufman syndrome: a case report. ( 1853883 )
1991
34
McKusick-Kaufman syndrome: report of the 66th case complicated by a staphyloma of the left eye. ( 1749628 )
1991
35
McKusick-Kaufman syndrome: report of an instructive family. ( 2564737 )
1989
36
Neonatal hydrometrocolpos associated with McKusick Kaufman syndrome. ( 2807483 )
1989
37
New features of the McKusick-Kaufman syndrome. ( 7139096 )
1982
38
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 MKKS NM_170784.2(MKKS): c.110A> G (p.Tyr37Cys) single nucleotide variant Pathogenic rs74315396 GRCh37 Chromosome 20, 10394053: 10394053
2 MKKS MKKS, 2-BP DEL, 2111GG deletion Pathogenic
3 MKKS NM_170784.2(MKKS): c.1334T> G (p.Leu445Ter) single nucleotide variant Pathogenic rs1057516054 GRCh37 Chromosome 20, 10386274: 10386274

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 9.8 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
3 microtubule organizing center GO:0005815 9.77 BBS1 BBS2 BBS4 BBS7 MKKS
4 centrosome GO:0005813 9.76 BBS1 BBS4 BBS7 MKKS
5 axoneme GO:0005930 9.61 BBS1 BBS7 GLI3
6 motile cilium GO:0031514 9.58 BBS2 BBS4 MKKS
7 ciliary membrane GO:0060170 9.56 BBS1 BBS2 BBS4 BBS7
8 ciliary basal body GO:0036064 9.55 BBS1 BBS2 BBS4 BBS7 MKKS
9 photoreceptor outer segment GO:0001750 9.49 BBS4 BBS7
10 cilium GO:0005929 9.43 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
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 46)
# 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 9.95 BBS1 BBS2 BBS4 BBS7
3 sensory perception of smell GO:0007608 9.86 BBS1 BBS4 MKKS
4 cell projection organization GO:0030030 9.85 BBS1 BBS2 BBS4 BBS7
5 heart development GO:0007507 9.84 BBS7 GLI3 MKKS
6 negative regulation of gene expression GO:0010629 9.83 BBS2 BBS4 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 cerebral cortex development GO:0021987 9.77 BBS2 BBS4 MKKS
11 cilium assembly GO:0060271 9.77 BBS1 BBS2 BBS4 BBS7 MKKS
12 heart looping GO:0001947 9.76 BBS4 BBS7 MKKS
13 hippocampus development GO:0021766 9.76 BBS2 BBS4 GLI3 MKKS
14 positive regulation of multicellular organism growth GO:0040018 9.73 BBS2 BBS4 MKKS
15 intracellular transport GO:0046907 9.71 BBS4 BBS7 MKKS
16 palate development GO:0060021 9.7 BBS7 GLI3
17 spermatid development GO:0007286 9.7 BBS4 MKKS
18 brain morphogenesis GO:0048854 9.7 BBS2 BBS4 MKKS
19 cartilage development GO:0051216 9.69 BBS2 MKKS
20 determination of left/right symmetry GO:0007368 9.69 BBS7 MKKS
21 striatum development GO:0021756 9.69 BBS2 BBS4 MKKS
22 smoothened signaling pathway GO:0007224 9.68 BBS7 GLI3
23 chaperone-mediated protein folding GO:0061077 9.68 BBS12 MKKS
24 social behavior GO:0035176 9.68 BBS4 MKKS
25 negative regulation of GTPase activity GO:0034260 9.68 BBS4 MKKS
26 retina homeostasis GO:0001895 9.67 BBS1 BBS4
27 limb development GO:0060173 9.67 BBS7 GLI3
28 adult behavior GO:0030534 9.67 BBS2 BBS4
29 Golgi to plasma membrane protein transport GO:0043001 9.66 BBS1 BBS2
30 vasodilation GO:0042311 9.65 BBS2 MKKS
31 response to leptin GO:0044321 9.65 BBS2 BBS4 MKKS
32 protein localization to cilium GO:0061512 9.64 BBS1 BBS4
33 face development GO:0060324 9.64 BBS4 MKKS
34 de novo protein folding GO:0006458 9.63 BBS12 MKKS
35 chaperone-mediated protein complex assembly GO:0051131 9.63 BBS12 MKKS
36 regulation of stress fiber assembly GO:0051492 9.62 BBS4 MKKS
37 protein localization to organelle GO:0033365 9.62 BBS2 BBS4
38 negative regulation of actin filament polymerization GO:0030837 9.61 BBS4 MKKS
39 artery smooth muscle contraction GO:0014824 9.61 BBS2 MKKS
40 leptin-mediated signaling pathway GO:0033210 9.61 BBS2 BBS4 MKKS
41 pigment granule aggregation in cell center GO:0051877 9.58 BBS7 MKKS
42 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.5 BBS2 BBS4 MKKS
43 melanosome transport GO:0032402 9.46 BBS2 BBS4 BBS7 MKKS
44 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.43 BBS2 BBS4 MKKS
45 non-motile cilium assembly GO:1905515 9.35 BBS1 BBS2 BBS4 BBS7 MKKS
46 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
2 protein binding involved in protein folding GO:0044183 8.96 BBS12 MKKS

Sources for Mckusick-Kaufman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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