MKKS
MCID: MCK005
MIFTS: 61

Mckusick-Kaufman Syndrome (MKKS)

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

Aliases & Classifications for Mckusick-Kaufman Syndrome

MalaCards integrated aliases for Mckusick-Kaufman Syndrome:

Name: Mckusick-Kaufman Syndrome 57 12 73 25 43 58 72 36 29 13 54 6 15 39
Hydrometrocolpos, Postaxial Polydactyly, and Congenital Heart Malformation 57 12 20 43
Kaufman-Mckusick Syndrome 57 43 58 70
Mkks 57 12 20 72
Hmcs 57 12 20 43
Hydrometrocolpos Syndrome 57 12 20
Hydrometrocolpos-Postaxial Polydactyly Syndrome 12 58
Kaufman Mckusick Syndrome 12 20
Mckusick Kaufman Syndrome 20 44
Hydrometrocolpos, Postaxial Polydactyly, and Congenital Heart Malformation; Hmcs 57
Mks 43

Characteristics:

Orphanet epidemiological data:

58
mckusick-kaufman syndrome
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
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:

25
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:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Mckusick-Kaufman Syndrome

MedlinePlus Genetics : 43 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.Most females with McKusick-Kaufman syndrome are born with a genital abnormality called hydrometrocolpos, which is a large accumulation of fluid in the pelvis. Hydrometrocolpos results from a blockage of the vagina before birth, which can occur if part of the vagina fails to develop (vaginal agenesis) or if a membrane blocks the opening of the vagina. This blockage allows fluid to build up in the vagina and uterus, stretching these organs and leading to a fluid-filled mass. Genital abnormalities in males with McKusick-Kaufman syndrome can include placement of the urethral opening on the underside of the penis (hypospadias), a downward-curving penis (chordee), and undescended testes (cryptorchidism).The signs and symptoms of McKusick-Kaufman syndrome overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. Bardet-Biedl syndrome has several features that are not seen in McKusick-Kaufman syndrome, however. These include vision loss, delayed development, obesity, and kidney (renal) failure. Because some of these features are not apparent at birth, the two conditions can be difficult to tell apart in infancy and early childhood.

MalaCards based summary : Mckusick-Kaufman Syndrome, also known as hydrometrocolpos, postaxial polydactyly, and congenital heart malformation, is related to cone dystrophy and body mass index quantitative trait locus 11. An important gene associated with Mckusick-Kaufman Syndrome is MKKS (MKKS Centrosomal Shuttling Protein), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Ethanol and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include heart, uterus and testes, and related phenotypes are hydrometrocolpos and cryptorchidism

Disease Ontology : 12 A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has material basis in homozygous or compound heterozygous mutation in MKKS on 20p12.2.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2473 Definition McKusick-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.

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) (Updated 05-Apr-2021)

KEGG : 36 McKusick-Kaufman syndrome (MKKS) is a rare, autosomal resessive syndrome reported mainly in infants and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. It is caused by mutations in the MKKS gene, that encodes centrosome-shuttling protein.

UniProtKB/Swiss-Prot : 72 McKusick-Kaufman syndrome: Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.

Wikipedia : 73 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 147)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 31.3 MKKS BBS7 BBS5 BBS2 BBS12 BBS10
2 body mass index quantitative trait locus 11 31.2 TTC8 PRODH MKKS CCR6 BBS4 BBS2
3 polycystic kidney disease 31.0 TTC8 TGFB1 MKKS CCN2 BBS5 BBS4
4 leber plus disease 30.6 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
5 bardet-biedl syndrome 14 30.6 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
6 bardet-biedl syndrome 13 30.6 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
7 bardet-biedl syndrome 11 30.6 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
8 ellis-van creveld syndrome 30.5 GLI3 EVC2 EVC
9 heart disease 30.5 TGFB1 PRODH MKKS FN1 EVC2 EVC
10 meckel syndrome, type 1 30.5 MKKS GLI3 EVC2 EVC BBS7 BBS5
11 nephronophthisis 30.4 TTC8 MKKS GLI3 EVC BBS7 BBS5
12 retinal degeneration 30.2 MKKS BBS7 BBS4 BBS10 BBS1
13 atrial heart septal defect 30.2 PRODH EVC2 EVC
14 bardet-biedl syndrome 10 30.1 BBS12 BBS10 BBS1
15 bardet-biedl syndrome 1 30.0 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
16 bardet-biedl syndrome 6 30.0 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
17 polydactyly 30.0 TTC8 MKKS GLI3 EVC2 EVC BBS7
18 joubert syndrome 1 29.9 GLI3 EVC2 EVC BBS5 BBS4 BBS1
19 tetralogy of fallot 29.9 PRODH MKKS EVC2 BBS7 BBS4 BBS2
20 bardet-biedl syndrome 29.9 TTC8 MKKS GLI3 EVC2 BBS7 BBS5
21 bardet-biedl syndrome 3 29.8 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
22 fundus dystrophy 29.7 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
23 retinal disease 29.7 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
24 bardet-biedl syndrome 8 29.5 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
25 retinitis pigmentosa 29.5 TTC8 PRODH MKKS GLI3 FN1 BBS7
26 mayer-rokitansky-kuster-hauser syndrome 11.3
27 anthrax disease 11.0
28 meckel syndrome, type 7 10.9
29 cone-rod dystrophy 6 10.8
30 developmental and epileptic encephalopathy 12 10.8
31 inhalation anthrax 10.8
32 cutaneous anthrax 10.8
33 multicystic dysplastic kidney 10.8
34 vaginal atresia 10.5
35 neuroretinitis 10.5
36 retinitis 10.5
37 autosomal recessive disease 10.4
38 bardet-biedl syndrome 2 10.4
39 bardet-biedl syndrome 4 10.4
40 holzgreve syndrome 10.3 GLI3 FN1
41 synovial chondromatosis 10.3 GLI3 FN1
42 diffuse cutaneous systemic sclerosis 10.3 CCR6 CCN2
43 acrocallosal syndrome 10.3 GLI3 BBS4 BBS2
44 pallister-hall syndrome 10.3
45 bardet-biedl syndrome 5 10.3
46 bardet-biedl syndrome 7 10.3
47 learning disability 10.3
48 transverse vaginal septum 10.3
49 inherited retinal disorder 10.3
50 kidney hypertrophy 10.3 FN1 CCN2

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



Diseases related to Mckusick-Kaufman Syndrome

Symptoms & Phenotypes for Mckusick-Kaufman Syndrome

Human phenotypes related to Mckusick-Kaufman Syndrome:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrometrocolpos 58 31 hallmark (90%) Very frequent (99-80%) HP:0030010
2 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
3 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
4 postaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001162
5 urogenital sinus anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0100779
6 glandular hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000807
7 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
8 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
9 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
10 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
11 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
12 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
13 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
14 hypoplastic left heart 58 31 occasional (7.5%) Occasional (29-5%) HP:0004383
15 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
16 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
17 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
18 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
19 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
20 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
21 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
22 abnormality of the metacarpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0001163
23 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
24 postaxial foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001830
25 ectopic anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0004397
26 tarsal synostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008368
27 urethral stricture 58 31 occasional (7.5%) Occasional (29-5%) HP:0012227
28 renal hypoplasia/aplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0008678
29 congenital hip dislocation 31 HP:0001374
30 polycystic kidney dysplasia 31 HP:0000113
31 rectovaginal fistula 31 HP:0000143
32 hydroureter 31 HP:0000072
33 pulmonary hypoplasia 31 HP:0002089
34 abnormality of cardiovascular system morphology 31 HP:0030680
35 edema 31 HP:0000969
36 pedal edema 31 HP:0010741
37 vaginal atresia 31 HP:0000148
38 mesoaxial hand polydactyly 31 HP:0006159
39 syndactyly 31 HP:0001159
40 transverse vaginal septum 31 HP:0000145
41 vesicovaginal fistula 31 HP:0001586

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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

Cardiovascular Heart:
congenital heart disease

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

Skeletal Pelvis:
congenital dislocation of the hip

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

Genitourinary Ureters:
hydroureter

Genitourinary Bladder:
vesicovaginal fistula

Muscle Soft Tissue:
leg edema

Respiratory Lung:
hypoplastic lungs

Clinical features from OMIM®:

236700 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Mckusick-Kaufman Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
2 growth/size/body region MP:0005378 10.41 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
3 homeostasis/metabolism MP:0005376 10.37 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
4 craniofacial MP:0005382 10.3 BBS1 BBS2 BBS4 BBS7 CCN2 EVC
5 cardiovascular system MP:0005385 10.29 BBS1 BBS4 BBS5 BBS7 CCN2 CYSLTR1
6 nervous system MP:0003631 10.28 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
7 limbs/digits/tail MP:0005371 10.2 BBS1 BBS2 BBS5 BBS7 CCN2 EVC
8 integument MP:0010771 10.13 BBS10 BBS2 BBS4 CCN2 CYSLTR2 FN1
9 adipose tissue MP:0005375 10.1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
10 renal/urinary system MP:0005367 10.02 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
11 normal MP:0002873 10.01 BBS10 BBS2 BBS4 CCN2 CCR6 EVC2
12 respiratory system MP:0005388 10 BBS1 BBS2 BBS4 CCN2 CYSLTR1 CYSLTR2
13 reproductive system MP:0005389 9.97 BBS1 BBS2 BBS4 BBS7 EVC FN1
14 skeleton MP:0005390 9.9 BBS12 BBS2 BBS4 BBS5 CCN2 EVC
15 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 BBS7 GLI3 MKKS
16 vision/eye MP:0005391 9.4 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5

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
Ethanol Approved 64-17-5 702
2 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Single-centre, Prospective Trial of the Detection of 5-hydroxymethylcytosine (5-hmC) in Plasma Cell-free DNA for Establishing a Model for the Early Diagnosis of Colorectal Cancer Unknown status NCT03599947
2 A Single-centre, Prospective, Cohort Trial of the Detection of 5-hydroxymethylcytosine (5-hmC) in Plasma Cell-free DNA for Establishing a Model for Predicting the Efficacy of Conversion Therapy for Patients With Unresectable Colorectal Cancer Liver Metastases Unknown status NCT03679039
3 A Multi-center, Prospective Trial of the Detection of 5-hydroxymethylcytosine (5-hmC) in Plasma Cell-free DNA for Establishing a Model for the Early Diagnosis of Colorectal Cancer Unknown status NCT03676075
4 Study on Recurrence Monitoring of Hepatocellular Carcinoma With 5-Hydroxymethylcytosine Based on hmC-Seal Technology Unknown status NCT03493763
5 Physiological Investigations of Movement Disorders Completed NCT01019343
6 Optimizing SBIRT for Drug-Using Patients in an Inner-City Emergency Department Completed NCT01113190
7 Development and Testing of BabyGentleStick™ Vibrated Needle System for Heel Lance- Neonatal Pilot Study Completed NCT03066895
8 Helping Individuals With Firearm Injuries: A Cluster Randomized Trial Completed NCT02630225
9 Investigation of the Effect of Protanopia ("Red Blindness") on the Brightness Perception of Brake Lights and Their Effect on Reaction Time Completed NCT04060238

Search NIH Clinical Center for Mckusick-Kaufman Syndrome

Cochrane evidence based reviews: 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:

40
Heart, Uterus, Testes, Kidney, Liver, Endothelial, Brain

Publications for Mckusick-Kaufman Syndrome

Articles related to Mckusick-Kaufman Syndrome:

(show top 50) (show all 277)
# Title Authors PMID Year
1
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 61 25 6 57
10802661 2000
2
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. 25 61 57
21044901 2011
3
A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? 57 25 61
15266619 2004
4
Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review. 61 57 25
11102925 2000
5
Genetic and physical mapping of the McKusick-Kaufman syndrome. 25 61 57
9467007 1998
6
MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination. 6 61
18094050 2008
7
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 61 6
16104012 2005
8
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. 57 61
15772095 2005
9
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 61 6
10973251 2000
10
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. 57 61
10465109 1999
11
McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature. 57 61
8209897 1994
12
The McKusick-Kaufman syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases. 61 57
7811428 1994
13
McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period. 61 57
1505577 1992
14
McKusick-Kaufman syndrome: report of an instructive family. 61 57
2564737 1989
15
The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease. 61 57
448491 1979
16
Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome. 61 25
32537787 2021
17
Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin. 61 25
31989739 2020
18
Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases. 25 61
29478043 2019
19
A Newborn with Rare McKusick Syndrome. 25 61
29866251 2018
20
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. 61 25
28753627 2017
21
Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome. 61 25
28153592 2017
22
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. 61 25
26900326 2016
23
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. 6
24400638 2015
24
Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome. 25 61
25017277 2014
25
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. 6
21209035 2011
26
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 6
20498079 2010
27
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 61 25
20120035 2010
28
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. 6
20142850 2010
29
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. 25 61
18478223 2008
30
Anaesthetic management in McKusick-Kaufman syndrome. 61 25
12562491 2003
31
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 6
11567139 2001
32
Term pregnancy in a patient with McKusick-Kaufman syndrome. 61 25
9648816 1998
33
Pallister-Hall and McKusick-Kaufmann syndromes. 57
7473667 1995
34
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? 57
7760322 1995
35
The Kaufman-McKusick syndrome: another association. 57
2681663 1989
36
Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndrome. 61 25
3631003 1987
37
Abdominal distension in Kaufman-McKusick syndrome. 57
3535500 1986
38
Origin of the "associated" anomalies in Kaufman-McKusick syndrome. 57
6846407 1983
39
Hydrometrocolpos--polydactyly syndrome in a macerated female foetus. 57
7262102 1981
40
Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome. 57
7262101 1981
41
Kaufman syndrome. 57
7246611 1981
42
Kaufman syndrome (hydrometrocolpos, polydactyly, and congenital heart disease) with pituitary dysplasia, choanal atresia, and vertebral anomalies. 57
7246610 1981
43
Hydrometrocolpos in Kaufman syndrome. 57
7419550 1980
44
The transverse vaginal septum: a clinicopathologic evaluation. 57
471367 1979
45
[Hydrometrocolpos, polydactyly and hemihypertrophy. Case report]. 57
5042188 1972
46
Hereditary hydrometrocolpos with polydactyly in infancy. 57
5545396 1971
47
Recessive inheritance of a congenital malformation syndrome: unilateral absence deformity of leg and congenital cataracts. 57
5694533 1968
48
HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION. 57
14172277 1964
49
Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer-Rokitansky-Kuster-Hauser Syndromes. 25
32714621 2020
50
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study. 25
31196119 2019

Variations for Mckusick-Kaufman Syndrome

ClinVar genetic disease variations for Mckusick-Kaufman Syndrome:

6 (show top 50) (show all 150)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MKKS NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys) SNV Pathogenic 5309 rs74315396 GRCh37: 20:10394053-10394053
GRCh38: 20:10413405-10413405
2 MKKS NM_018848.3(MKKS):c.1225_1226del (p.Gly409fs) Deletion Pathogenic 5310 rs1421664374 GRCh37: 20:10388310-10388311
GRCh38: 20:10407662-10407663
3 MKKS NM_170784.2(MKKS):c.1334T>G (p.Leu445Ter) SNV Pathogenic 369846 rs1057516054 GRCh37: 20:10386274-10386274
GRCh38: 20:10405626-10405626
4 MKKS NC_000020.11:g.(?_10405227)_(10413534_?)del Deletion Pathogenic 584330 GRCh37: 20:10385875-10394182
GRCh38: 20:10405227-10413534
5 MKKS NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys) SNV Pathogenic 5309 rs74315396 GRCh37: 20:10394053-10394053
GRCh38: 20:10413405-10413405
6 MKKS NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys) SNV Pathogenic 5309 rs74315396 GRCh37: 20:10394053-10394053
GRCh38: 20:10413405-10413405
7 MKKS NM_018848.3(MKKS):c.172_175dup (p.Gln59fs) Duplication Pathogenic 642430 rs1600849412 GRCh37: 20:10393987-10393988
GRCh38: 20:10413339-10413340
8 MKKS NM_018848.3(MKKS):c.433_434del (p.Phe144_Ser145insTer) Deletion Pathogenic 803599 rs764382536 GRCh37: 20:10393729-10393730
GRCh38: 20:10413081-10413082
9 MKKS NM_018848.3(MKKS):c.429_430del (p.Asp143_Phe144insTer) Deletion Pathogenic 803600 rs762222223 GRCh37: 20:10393733-10393734
GRCh38: 20:10413085-10413086
10 MKKS NM_018848.3(MKKS):c.169A>G (p.Thr57Ala) SNV Pathogenic 5316 rs74315399 GRCh37: 20:10393994-10393994
GRCh38: 20:10413346-10413346
11 MKKS NM_170784.3(MKKS):c.380del (p.Cys127fs) Deletion Pathogenic 939663 GRCh37: 20:10393783-10393783
GRCh38: 20:10413135-10413135
12 MKKS NM_170784.3(MKKS):c.47del (p.Pro16fs) Deletion Pathogenic 958277 GRCh37: 20:10394116-10394116
GRCh38: 20:10413468-10413468
13 MKKS NM_170784.3(MKKS):c.432_435del (p.Phe144fs) Deletion Pathogenic 960365 GRCh37: 20:10393728-10393731
GRCh38: 20:10413080-10413083
14 MKKS NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) SNV Pathogenic 962801 GRCh37: 20:10393415-10393415
GRCh38: 20:10412767-10412767
15 MKKS NM_170784.3(MKKS):c.175C>T (p.Gln59Ter) SNV Pathogenic 971909 GRCh37: 20:10393988-10393988
GRCh38: 20:10413340-10413340
16 MKKS NM_170784.3(MKKS):c.29C>A (p.Ser10Ter) SNV Pathogenic 970291 GRCh37: 20:10394134-10394134
GRCh38: 20:10413486-10413486
17 MKKS NM_018848.3(MKKS):c.250C>T (p.His84Tyr) SNV Pathogenic 448914 rs281797258 GRCh37: 20:10393913-10393913
GRCh38: 20:10413265-10413265
18 MKKS NM_018848.3(MKKS):c.749G>A (p.Gly250Glu) SNV Likely pathogenic 649204 rs972466774 GRCh37: 20:10393414-10393414
GRCh38: 20:10412766-10412766
19 MKKS NM_018848.3(MKKS):c.1553G>A (p.Arg518His) SNV Conflicting interpretations of pathogenicity 215903 rs149051148 GRCh37: 20:10386055-10386055
GRCh38: 20:10405407-10405407
20 MKKS NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) SNV Conflicting interpretations of pathogenicity 100586 rs137853909 GRCh37: 20:10389422-10389422
GRCh38: 20:10408774-10408774
21 MKKS NM_018848.3(MKKS):c.1474G>A (p.Asp492Asn) SNV Uncertain significance 95921 rs142327258 GRCh37: 20:10386134-10386134
GRCh38: 20:10405486-10405486
22 MKKS NM_170784.3(MKKS):c.1088T>C (p.Leu363Pro) SNV Uncertain significance 970810 GRCh37: 20:10389349-10389349
GRCh38: 20:10408701-10408701
23 MKKS NM_170784.3(MKKS):c.8G>A (p.Arg3His) SNV Uncertain significance 971186 GRCh37: 20:10394155-10394155
GRCh38: 20:10413507-10413507
24 MKKS NM_170784.3(MKKS):c.1639A>G (p.Ser547Gly) SNV Uncertain significance 1002079 GRCh37: 20:10385969-10385969
GRCh38: 20:10405321-10405321
25 MKKS NM_170784.3(MKKS):c.202T>G (p.Leu68Val) SNV Uncertain significance 1004281 GRCh37: 20:10393961-10393961
GRCh38: 20:10413313-10413313
26 MKKS NM_170784.3(MKKS):c.891A>G (p.Ile297Met) SNV Uncertain significance 1005863 GRCh37: 20:10393272-10393272
GRCh38: 20:10412624-10412624
27 MKKS NM_170784.3(MKKS):c.430T>C (p.Phe144Leu) SNV Uncertain significance 1008312 GRCh37: 20:10393733-10393733
GRCh38: 20:10413085-10413085
28 MKKS NM_018848.3(MKKS):c.890T>C (p.Ile297Thr) SNV Uncertain significance 636042 rs147704542 GRCh37: 20:10393273-10393273
GRCh38: 20:10412625-10412625
29 MKKS NM_170784.3(MKKS):c.820G>A (p.Asp274Asn) SNV Uncertain significance 1016713 GRCh37: 20:10393343-10393343
GRCh38: 20:10412695-10412695
30 MKKS NM_170784.3(MKKS):c.1505A>G (p.Tyr502Cys) SNV Uncertain significance 1024074 GRCh37: 20:10386103-10386103
GRCh38: 20:10405455-10405455
31 MKKS NM_170784.3(MKKS):c.130A>C (p.Lys44Gln) SNV Uncertain significance 1025719 GRCh37: 20:10394033-10394033
GRCh38: 20:10413385-10413385
32 MKKS NM_018848.3(MKKS):c.1474G>A (p.Asp492Asn) SNV Uncertain significance 95921 rs142327258 GRCh37: 20:10386134-10386134
GRCh38: 20:10405486-10405486
33 MKKS NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly) SNV Uncertain significance 897429 GRCh37: 20:10386301-10386301
GRCh38: 20:10405653-10405653
34 MKKS NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr) SNV Uncertain significance 897430 GRCh37: 20:10389380-10389380
GRCh38: 20:10408732-10408732
35 MKKS NM_018848.3(MKKS):c.1474G>A (p.Asp492Asn) SNV Uncertain significance 95921 rs142327258 GRCh37: 20:10386134-10386134
GRCh38: 20:10405486-10405486
36 MKKS NM_170784.3(MKKS):c.1067G>T (p.Gly356Val) SNV Uncertain significance 1035427 GRCh37: 20:10389370-10389370
GRCh38: 20:10408722-10408722
37 MKKS NM_170784.3(MKKS):c.464G>A (p.Arg155His) SNV Uncertain significance 1038618 GRCh37: 20:10393699-10393699
GRCh38: 20:10413051-10413051
38 MKKS NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr) SNV Uncertain significance 897430 GRCh37: 20:10389380-10389380
GRCh38: 20:10408732-10408732
39 MKKS NM_170784.3(MKKS):c.1511G>A (p.Ser504Asn) SNV Uncertain significance 1041520 GRCh37: 20:10386097-10386097
GRCh38: 20:10405449-10405449
40 MKKS NM_170784.3(MKKS):c.1274C>T (p.Thr425Ile) SNV Uncertain significance 1041617 GRCh37: 20:10386334-10386334
GRCh38: 20:10405686-10405686
41 MKKS NM_170784.3(MKKS):c.541G>A (p.Ala181Thr) SNV Uncertain significance 1042903 GRCh37: 20:10393622-10393622
GRCh38: 20:10412974-10412974
42 MKKS NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly) SNV Uncertain significance 897429 GRCh37: 20:10386301-10386301
GRCh38: 20:10405653-10405653
43 MKKS NM_170784.3(MKKS):c.1265G>A (p.Arg422Lys) SNV Uncertain significance 1047290 GRCh37: 20:10388271-10388271
GRCh38: 20:10407623-10407623
44 MKKS NM_170784.3(MKKS):c.727C>T (p.Leu243Phe) SNV Uncertain significance 1047588 GRCh37: 20:10393436-10393436
GRCh38: 20:10412788-10412788
45 MKKS NM_018848.3(MKKS):c.724G>T (p.Ala242Ser) SNV Uncertain significance 167303 rs74315394 GRCh37: 20:10393439-10393439
GRCh38: 20:10412791-10412791
46 MKKS NM_170784.3(MKKS):c.1161+3A>G SNV Uncertain significance 860468 GRCh37: 20:10389273-10389273
GRCh38: 20:10408625-10408625
47 MKKS NM_018848.3(MKKS):c.1282G>A (p.Asp428Asn) SNV Uncertain significance 337689 rs779416496 GRCh37: 20:10386326-10386326
GRCh38: 20:10405678-10405678
48 MKKS NM_170784.3(MKKS):c.1280A>G (p.Asn427Ser) SNV Uncertain significance 964125 GRCh37: 20:10386328-10386328
GRCh38: 20:10405680-10405680
49 MKKS NM_170784.3(MKKS):c.1294A>T (p.Ile432Phe) SNV Uncertain significance 964478 GRCh37: 20:10386314-10386314
GRCh38: 20:10405666-10405666
50 MKKS NM_170784.3(MKKS):c.1129A>G (p.Asn377Asp) SNV Uncertain significance 965710 GRCh37: 20:10389308-10389308
GRCh38: 20:10408660-10408660

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

72
# Symbol AA change Variation ID SNP ID
1 MKKS p.Tyr37Cys VAR_009864 rs74315396
2 MKKS p.His84Tyr VAR_009866 rs281797258

Expression for Mckusick-Kaufman Syndrome

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

Pathways for Mckusick-Kaufman Syndrome

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 plasma membrane GO:0005886 10.27 TTC8 TGFB1 EVC2 EVC CYSLTR2 CYSLTR1
2 cytoskeleton GO:0005856 10.06 TTC8 MKKS EVC2 EVC BBS7 BBS5
3 cell projection GO:0042995 10.06 TTC8 GLI3 EVC2 EVC BBS7 BBS5
4 microtubule organizing center GO:0005815 9.91 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
5 cilium GO:0005929 9.9 TTC8 GLI3 EVC2 EVC BBS7 BBS5
6 centrosome GO:0005813 9.89 TTC8 MKKS BBS7 BBS4 BBS1
7 ciliary basal body GO:0036064 9.86 TTC8 MKKS EVC BBS7 BBS5 BBS4
8 axoneme GO:0005930 9.73 GLI3 BBS7 BBS5 BBS1
9 plasma membrane protein complex GO:0098797 9.48 EVC2 EVC
10 BBSome GO:0034464 9.43 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1
11 ciliary membrane GO:0060170 9.23 TTC8 EVC2 EVC BBS7 BBS5 BBS4

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.09 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1
2 response to stimulus GO:0050896 10.04 MKKS BBS7 BBS5 BBS4 BBS2 BBS10
3 heart development GO:0007507 9.97 TGFB1 MKKS GLI3 FN1 BBS7
4 negative regulation of gene expression GO:0010629 9.96 TGFB1 MKKS CCN2 BBS2
5 cell projection organization GO:0030030 9.91 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1
6 cilium assembly GO:0060271 9.87 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
7 smoothened signaling pathway GO:0007224 9.85 GLI3 EVC2 EVC BBS7
8 hippocampus development GO:0021766 9.84 MKKS GLI3 BBS4 BBS2
9 wound healing GO:0042060 9.83 TGFB1 GLI3 FN1
10 heart looping GO:0001947 9.83 MKKS BBS7 BBS5 BBS4
11 cartilage development GO:0051216 9.81 MKKS EVC BBS2
12 cerebral cortex development GO:0021987 9.8 MKKS BBS4 BBS2
13 response to wounding GO:0009611 9.8 TGFB1 FN1 CCN2
14 visual perception GO:0007601 9.8 MKKS BBS7 BBS5 BBS4 BBS2 BBS10
15 fat cell differentiation GO:0045444 9.77 TTC8 MKKS BBS7 BBS4 BBS2
16 intracellular transport GO:0046907 9.76 MKKS BBS7 BBS5 BBS4
17 brain morphogenesis GO:0048854 9.74 MKKS BBS4 BBS2
18 chaperone-mediated protein complex assembly GO:0051131 9.73 MKKS BBS12 BBS10
19 striatum development GO:0021756 9.69 MKKS BBS4 BBS2
20 regulation of stress fiber assembly GO:0051492 9.65 TTC8 MKKS
21 artery smooth muscle contraction GO:0014824 9.65 MKKS BBS2
22 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.65 MKKS BBS4 BBS2
23 response to leptin GO:0044321 9.64 MKKS BBS2
24 leptin-mediated signaling pathway GO:0033210 9.64 MKKS BBS2
25 leukotriene signaling pathway GO:0061737 9.61 CYSLTR2 CYSLTR1
26 connective tissue development GO:0061448 9.61 TGFB1 CCN2
27 frontal suture morphogenesis GO:0060364 9.6 TGFB1 GLI3
28 sensory processing GO:0050893 9.59 TTC8 BBS4
29 pigment granule aggregation in cell center GO:0051877 9.58 MKKS BBS7
30 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.58 MKKS BBS4 BBS2
31 melanosome transport GO:0032402 9.55 MKKS BBS7 BBS5 BBS4 BBS2
32 photoreceptor cell maintenance GO:0045494 9.43 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
33 non-motile cilium assembly GO:1905515 9.17 TTC8 MKKS BBS7 BBS4 BBS2 BBS10

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 9.23 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
2 leukotriene receptor activity GO:0004974 9.16 CYSLTR2 CYSLTR1
3 cysteinyl leukotriene receptor activity GO:0001631 8.96 CYSLTR2 CYSLTR1

Sources for Mckusick-Kaufman 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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