MCID: MCK005
MIFTS: 54

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 57 24 25 59 75 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
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 2. 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 bone, and related phenotypes are multicystic kidney dysplasia and cryptorchidism

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–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 65)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 6 31.3 BBS1 BBS2 BBS4 MKKS
2 bardet-biedl syndrome 2 30.3 BBS2 MKKS
3 pallister-hall syndrome 30.1 GLI3 MKKS
4 polydactyly 28.4 BBS1 BBS2 BBS4 GLI3 MKKS
5 retinitis pigmentosa 27.7 BBS1 BBS12 BBS2 BBS4 MKKS
6 tetralogy of fallot 27.2 BBS1 BBS2 BBS4 BBS7 MKKS
7 bardet-biedl syndrome 26.8 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
8 hypertelorism, microtia, facial clefting syndrome 11.9
9 meckel syndrome, type 1 11.5
10 menkes disease 11.2
11 meckel syndrome, type 7 11.0
12 haim-munk syndrome 10.9
13 bardet-biedl syndrome 10 10.3
14 bardet-biedl syndrome 11 10.3
15 bardet-biedl syndrome 12 10.3
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 hypothalamic hamartomas 10.1
21 urinary tract infections, recurrent 10.1
22 leber congenital amaurosis 4 10.1
23 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
24 esophageal atresia 10.1
25 heart disease 10.1
26 esophagitis 10.1
27 endometriosis 10.1
28 laryngitis 10.1
29 retinitis 10.1
30 intestinal obstruction 10.1
31 fetal edema 10.1
32 hydrops fetalis 10.1
33 tracheoesophageal fistula 10.1
34 vaginal atresia 10.1
35 hypertelorism 10.0
36 microtia 10.0
37 nonsyndromic retinitis pigmentosa 10.0 BBS1 BBS2
38 leukemia 10.0
39 polydactyly, postaxial, type a1 10.0 BBS12 GLI3
40 alstrom syndrome 9.9 BBS1 BBS2
41 xanthinuria 9.9
42 lymphoblastic leukemia 9.9
43 physical disorder 9.8 GLI3 MKKS
44 colorectal cancer 9.7
45 anemia, autoimmune hemolytic 9.7
46 leukemia, acute lymphoblastic 9.7
47 gastric cancer 9.7
48 pertussis 9.7
49 tetanus 9.7
50 diphtheria 9.7

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

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 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 BBS4 BBS7 GLI3 MKKS BBS1
7 nervous system MP:0003631 9.91 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
8 adipose tissue MP:0005375 9.86 BBS12 BBS2 BBS4 BBS1
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 BBS7 GLI3 BBS1 BBS12 BBS2 BBS4
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 29 MKKS

Anatomical Context for Mckusick-Kaufman Syndrome

MalaCards organs/tissues related to Mckusick-Kaufman Syndrome:

41
Heart, Kidney, Bone, Lung, Eye

Publications for Mckusick-Kaufman Syndrome

Articles related to Mckusick-Kaufman Syndrome:

(show all 39)
# 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
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. ( 10465109 )
1999
26
Genetic and physical mapping of the McKusick-Kaufman syndrome. ( 9467007 )
1998
27
Term pregnancy in a patient with McKusick-Kaufman syndrome. ( 9648816 )
1998
28
-A difficult intubation of an infant with McKusick-Kaufman syndrome. Failure of the laryngeal mask-fibroscope sequence-. ( 9750736 )
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
New features of the McKusick-Kaufman syndrome. ( 7139096 )
1982
39
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 85)
# 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 NM_170784.2(MKKS): c.110A> G (p.Tyr37Cys) single nucleotide variant Pathogenic rs74315396 GRCh38 Chromosome 20, 10413405: 10413405
3 MKKS MKKS, 2-BP DEL, 2111GG deletion Pathogenic
4 MKKS NM_018848.3(MKKS): c.1553G> A (p.Arg518His) single nucleotide variant Likely benign rs149051148 GRCh37 Chromosome 20, 10386055: 10386055
5 MKKS NM_018848.3(MKKS): c.1553G> A (p.Arg518His) single nucleotide variant Likely benign rs149051148 GRCh38 Chromosome 20, 10405407: 10405407
6 MKKS NM_018848.3(MKKS): c.425T> C (p.Val142Ala) single nucleotide variant Uncertain significance rs863224773 GRCh37 Chromosome 20, 10393738: 10393738
7 MKKS NM_018848.3(MKKS): c.425T> C (p.Val142Ala) single nucleotide variant Uncertain significance rs863224773 GRCh38 Chromosome 20, 10413090: 10413090
8 MKKS NM_018848.3(MKKS): c.638C> G (p.Thr213Ser) single nucleotide variant Uncertain significance rs780570415 GRCh37 Chromosome 20, 10393525: 10393525
9 MKKS NM_018848.3(MKKS): c.638C> G (p.Thr213Ser) single nucleotide variant Uncertain significance rs780570415 GRCh38 Chromosome 20, 10412877: 10412877
10 MKKS NM_018848.3(MKKS): c.*46G> T single nucleotide variant Likely benign rs74703166 GRCh38 Chromosome 20, 10405201: 10405201
11 MKKS NM_018848.3(MKKS): c.*46G> T single nucleotide variant Likely benign rs74703166 GRCh37 Chromosome 20, 10385849: 10385849
12 MKKS NM_018848.3(MKKS): c.*38A> G single nucleotide variant Likely benign rs79940214 GRCh38 Chromosome 20, 10405209: 10405209
13 MKKS NM_018848.3(MKKS): c.*38A> G single nucleotide variant Likely benign rs79940214 GRCh37 Chromosome 20, 10385857: 10385857
14 MKKS NM_018848.3(MKKS): c.1462G> A (p.Ala488Thr) single nucleotide variant Benign/Likely benign rs61734546 GRCh37 Chromosome 20, 10386146: 10386146
15 MKKS NM_018848.3(MKKS): c.1462G> A (p.Ala488Thr) single nucleotide variant Benign/Likely benign rs61734546 GRCh38 Chromosome 20, 10405498: 10405498
16 MKKS NM_018848.3(MKKS): c.*460T> C single nucleotide variant Uncertain significance rs886056496 GRCh37 Chromosome 20, 10385435: 10385435
17 MKKS NM_018848.3(MKKS): c.*460T> C single nucleotide variant Uncertain significance rs886056496 GRCh38 Chromosome 20, 10404787: 10404787
18 MKKS NM_018848.3(MKKS): c.1269C> T (p.His423=) single nucleotide variant Uncertain significance rs144313303 GRCh37 Chromosome 20, 10388267: 10388267
19 MKKS NM_018848.3(MKKS): c.1269C> T (p.His423=) single nucleotide variant Uncertain significance rs144313303 GRCh38 Chromosome 20, 10407619: 10407619
20 MKKS NM_018848.3(MKKS): c.-22A> C single nucleotide variant Uncertain significance rs531656259 GRCh37 Chromosome 20, 10394184: 10394184
21 MKKS NM_018848.3(MKKS): c.-22A> C single nucleotide variant Uncertain significance rs531656259 GRCh38 Chromosome 20, 10413536: 10413536
22 MKKS NM_018848.3(MKKS): c.-306A> G single nucleotide variant Uncertain significance rs3748466 GRCh37 Chromosome 20, 10394468: 10394468
23 MKKS NM_018848.3(MKKS): c.-306A> G single nucleotide variant Uncertain significance rs3748466 GRCh38 Chromosome 20, 10413820: 10413820
24 MKKS NM_018848.3(MKKS): c.-406G> C single nucleotide variant Uncertain significance rs886056500 GRCh37 Chromosome 20, 10394568: 10394568
25 MKKS NM_018848.3(MKKS): c.-406G> C single nucleotide variant Uncertain significance rs886056500 GRCh38 Chromosome 20, 10413920: 10413920
26 MKKS NM_018848.3(MKKS): c.-496T> G single nucleotide variant Uncertain significance rs554863155 GRCh38 Chromosome 20, 10420606: 10420606
27 MKKS NM_018848.3(MKKS): c.-496T> G single nucleotide variant Uncertain significance rs554863155 GRCh37 Chromosome 20, 10401254: 10401254
28 MKKS NM_018848.3(MKKS): c.-557A> G single nucleotide variant Uncertain significance rs145467994 GRCh37 Chromosome 20, 10401315: 10401315
29 MKKS NM_018848.3(MKKS): c.-557A> G single nucleotide variant Uncertain significance rs145467994 GRCh38 Chromosome 20, 10420667: 10420667
30 MKKS NM_018848.3(MKKS): c.-781delG deletion Uncertain significance rs566962031 GRCh38 Chromosome 20, 10431816: 10431816
31 MKKS NM_018848.3(MKKS): c.-781delG deletion Uncertain significance rs566962031 GRCh37 Chromosome 20, 10412464: 10412464
32 MKKS NM_018848.3(MKKS): c.*435G> A single nucleotide variant Likely benign rs6108549 GRCh37 Chromosome 20, 10385460: 10385460
33 MKKS NM_018848.3(MKKS): c.*435G> A single nucleotide variant Likely benign rs6108549 GRCh38 Chromosome 20, 10404812: 10404812
34 MKKS NM_018848.3(MKKS): c.*392T> C single nucleotide variant Likely benign rs2294901 GRCh37 Chromosome 20, 10385503: 10385503
35 MKKS NM_018848.3(MKKS): c.*392T> C single nucleotide variant Likely benign rs2294901 GRCh38 Chromosome 20, 10404855: 10404855
36 MKKS NM_018848.3(MKKS): c.1702G> C (p.Asp568His) single nucleotide variant Uncertain significance rs886056497 GRCh37 Chromosome 20, 10385906: 10385906
37 MKKS NM_018848.3(MKKS): c.1702G> C (p.Asp568His) single nucleotide variant Uncertain significance rs886056497 GRCh38 Chromosome 20, 10405258: 10405258
38 MKKS NM_018848.3(MKKS): c.-39A> C single nucleotide variant Uncertain significance rs886056499 GRCh37 Chromosome 20, 10394201: 10394201
39 MKKS NM_018848.3(MKKS): c.-39A> C single nucleotide variant Uncertain significance rs886056499 GRCh38 Chromosome 20, 10413553: 10413553
40 MKKS NM_018848.3(MKKS): c.-349A> G single nucleotide variant Uncertain significance rs140884406 GRCh37 Chromosome 20, 10394511: 10394511
41 MKKS NM_018848.3(MKKS): c.-349A> G single nucleotide variant Uncertain significance rs140884406 GRCh38 Chromosome 20, 10413863: 10413863
42 MKKS NM_018848.3(MKKS): c.-871_-869dupTTG duplication Likely benign rs143825746 GRCh38 Chromosome 20, 10431904: 10431906
43 MKKS NM_018848.3(MKKS): c.-871_-869dupTTG duplication Likely benign rs143825746 GRCh37 Chromosome 20, 10412552: 10412554
44 MKKS NM_018848.3(MKKS): c.1282G> A (p.Asp428Asn) single nucleotide variant Uncertain significance rs779416496 GRCh37 Chromosome 20, 10386326: 10386326
45 MKKS NM_018848.3(MKKS): c.1282G> A (p.Asp428Asn) single nucleotide variant Uncertain significance rs779416496 GRCh38 Chromosome 20, 10405678: 10405678
46 MKKS NM_018848.3(MKKS): c.874C> T (p.Leu292=) single nucleotide variant Uncertain significance rs758645426 GRCh37 Chromosome 20, 10393289: 10393289
47 MKKS NM_018848.3(MKKS): c.874C> T (p.Leu292=) single nucleotide variant Uncertain significance rs758645426 GRCh38 Chromosome 20, 10412641: 10412641
48 MKKS NM_018848.3(MKKS): c.-21C> G single nucleotide variant Uncertain significance rs886056498 GRCh37 Chromosome 20, 10394183: 10394183
49 MKKS NM_018848.3(MKKS): c.-21C> G single nucleotide variant Uncertain significance rs886056498 GRCh38 Chromosome 20, 10413535: 10413535
50 MKKS NM_018848.3(MKKS): c.-477G> T single nucleotide variant Uncertain significance rs886056501 GRCh38 Chromosome 20, 10420587: 10420587

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 12)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.99 BBS1 BBS2 BBS4 BBS7 GLI3 MKKS
2 cytoskeleton GO:0005856 9.88 BBS1 BBS2 BBS4 BBS7 MKKS
3 cell projection GO:0042995 9.8 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
4 microtubule organizing center GO:0005815 9.77 BBS1 BBS2 BBS4 BBS7 MKKS
5 centrosome GO:0005813 9.76 BBS1 BBS4 BBS7 MKKS
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 ciliary basal body GO:0036064 9.55 BBS1 BBS2 BBS4 BBS7 MKKS
10 photoreceptor outer segment GO:0001750 9.49 BBS4 BBS7
11 cilium GO:0005929 9.43 BBS1 BBS12 BBS2 BBS4 BBS7 GLI3
12 BBSome GO:0034464 8.92 BBS1 BBS2 BBS4 BBS7

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

(show all 45)
# 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 heart development GO:0007507 9.84 BBS7 GLI3 MKKS
5 cell projection organization GO:0030030 9.84 BBS1 BBS2 BBS4 BBS7
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 cilium assembly GO:0060271 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 visual perception GO:0007601 9.77 BBS1 BBS2 BBS4 BBS7 MKKS
12 heart looping GO:0001947 9.76 BBS4 BBS7 MKKS
13 intracellular transport GO:0046907 9.73 BBS4 BBS7 MKKS
14 hippocampus development GO:0021766 9.73 BBS2 BBS4 GLI3 MKKS
15 positive regulation of multicellular organism growth GO:0040018 9.72 BBS2 BBS4 MKKS
16 spermatid development GO:0007286 9.7 BBS4 MKKS
17 brain morphogenesis GO:0048854 9.7 BBS2 BBS4 MKKS
18 determination of left/right symmetry GO:0007368 9.69 BBS7 MKKS
19 cartilage development GO:0051216 9.69 BBS2 MKKS
20 striatum development GO:0021756 9.69 BBS2 BBS4 MKKS
21 smoothened signaling pathway GO:0007224 9.68 BBS7 GLI3
22 chaperone-mediated protein folding GO:0061077 9.68 BBS12 MKKS
23 social behavior GO:0035176 9.68 BBS4 MKKS
24 negative regulation of GTPase activity GO:0034260 9.68 BBS4 MKKS
25 limb development GO:0060173 9.67 BBS7 GLI3
26 retina homeostasis GO:0001895 9.67 BBS1 BBS4
27 Golgi to plasma membrane protein transport GO:0043001 9.66 BBS1 BBS2
28 adult behavior GO:0030534 9.66 BBS2 BBS4
29 protein localization to cilium GO:0061512 9.65 BBS1 BBS4
30 response to leptin GO:0044321 9.65 BBS2 BBS4 MKKS
31 vasodilation GO:0042311 9.64 BBS2 MKKS
32 de novo protein folding GO:0006458 9.64 BBS12 MKKS
33 chaperone-mediated protein complex assembly GO:0051131 9.63 BBS12 MKKS
34 negative regulation of actin filament polymerization GO:0030837 9.63 BBS4 MKKS
35 leptin-mediated signaling pathway GO:0033210 9.63 BBS2 BBS4 MKKS
36 face development GO:0060324 9.62 BBS4 MKKS
37 regulation of stress fiber assembly GO:0051492 9.62 BBS4 MKKS
38 protein localization to organelle GO:0033365 9.61 BBS2 BBS4
39 artery smooth muscle contraction GO:0014824 9.61 BBS2 MKKS
40 pigment granule aggregation in cell center GO:0051877 9.58 BBS7 MKKS
41 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.5 BBS2 BBS4 MKKS
42 melanosome transport GO:0032402 9.46 BBS2 BBS4 BBS7 MKKS
43 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.43 BBS2 BBS4 MKKS
44 non-motile cilium assembly GO:1905515 9.35 BBS1 BBS2 BBS4 BBS7 MKKS
45 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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