MKS12
MCID: MCK026
MIFTS: 24

Meckel Syndrome 12 (MKS12)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Meckel Syndrome 12

MalaCards integrated aliases for Meckel Syndrome 12:

Name: Meckel Syndrome 12 58 76 30 6 74
Mks12 58 76
Lethal Fetal Cerebrorenogenitourinary Agenesis/hypoplasia Syndrome 60
Meckel Syndrome, Type 12 41

Characteristics:

Orphanet epidemiological data:

60
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: embryofetal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015)


HPO:

33
meckel syndrome 12:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome 12

UniProtKB/Swiss-Prot : 76 Meckel syndrome 12: A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.

MalaCards based summary : Meckel Syndrome 12, is also known as mks12. An important gene associated with Meckel Syndrome 12 is KIF14 (Kinesin Family Member 14). Affiliated tissues include occipital lobe, liver and bone, and related phenotypes are low-set ears and wide nasal bridge

Description from OMIM: 616258

Related Diseases for Meckel Syndrome 12

Symptoms & Phenotypes for Meckel Syndrome 12

Human phenotypes related to Meckel Syndrome 12:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 occasional (7.5%) HP:0000369
2 wide nasal bridge 33 occasional (7.5%) HP:0000431
3 anteverted nares 33 occasional (7.5%) HP:0000463
4 micrognathia 33 occasional (7.5%) HP:0000347
5 bifid uvula 33 occasional (7.5%) HP:0000193
6 vaginal atresia 33 occasional (7.5%) HP:0000148
7 agenesis of corpus callosum 33 HP:0001274
8 microcephaly 33 HP:0000252
9 intrauterine growth retardation 33 HP:0001511
10 arthrogryposis multiplex congenita 33 HP:0002804
11 cerebellar hypoplasia 33 HP:0001321
12 renal hypoplasia 33 HP:0000089
13 oligohydramnios 33 HP:0001562
14 sloping forehead 33 HP:0000340
15 rocker bottom foot 33 HP:0001838
16 renal agenesis 33 HP:0000104
17 cerebral hypoplasia 33 HP:0006872

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly

Genitourinary Kidneys:
renal hypoplasia
renal agenesis
cystic dysplasia

Head And Neck Face:
sloping forehead
micrognathia (1 patient)

Growth Other:
intrauterine growth retardation (iugr)

Skeletal Feet:
prominent heels
rocker bottom feet

Head And Neck Nose:
anteverted nose (1 patient)
broad nasal root (1 patient)

Genitourinary Ureters:
ureteral hypoplasia

Neurologic Central Nervous System:
cerebellar hypoplasia
cerebral hypoplasia
agenesis of the corpus callosum
agenesis of the occipital lobes (1 patient)
arhinencephaly (1 patient)

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Skeletal:
arthrogryposis

Genitourinary Internal Genitalia Female:
uterine hypoplasia
vaginal atresia (1 patient)

Head And Neck Ears:
low-set ears (1 patient)

Head And Neck Mouth:
bifid uvula (1 patient)

Clinical features from OMIM:

616258

Drugs & Therapeutics for Meckel Syndrome 12

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome 12

Genetic Tests for Meckel Syndrome 12

Genetic tests related to Meckel Syndrome 12:

# Genetic test Affiliating Genes
1 Meckel Syndrome 12 30 KIF14

Anatomical Context for Meckel Syndrome 12

MalaCards organs/tissues related to Meckel Syndrome 12:

42
Occipital Lobe, Liver, Bone, Eye

Publications for Meckel Syndrome 12

Articles related to Meckel Syndrome 12:

# Title Authors Year
1
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. ( 24128419 )
2014

Variations for Meckel Syndrome 12

ClinVar genetic disease variations for Meckel Syndrome 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF14 NM_014875.2(KIF14): c.1750_1751delGA (p.Glu584Ilefs) deletion Pathogenic rs786201012 GRCh37 Chromosome 1, 200573079: 200573080
2 KIF14 NM_014875.2(KIF14): c.1750_1751delGA (p.Glu584Ilefs) deletion Pathogenic rs786201012 GRCh38 Chromosome 1, 200603951: 200603952
3 KIF14 NM_014875.3(KIF14): c.1780A> T (p.Arg594Ter) single nucleotide variant Pathogenic rs786201013 GRCh37 Chromosome 1, 200573050: 200573050
4 KIF14 NM_014875.3(KIF14): c.1780A> T (p.Arg594Ter) single nucleotide variant Pathogenic rs786201013 GRCh38 Chromosome 1, 200603922: 200603922
5 KIF14 NM_014875.2(KIF14): c.4276A> C (p.Lys1426Gln) single nucleotide variant Uncertain significance rs1085307854 GRCh37 Chromosome 1, 200528535: 200528535
6 KIF14 NM_014875.2(KIF14): c.4276A> C (p.Lys1426Gln) single nucleotide variant Uncertain significance rs1085307854 GRCh38 Chromosome 1, 200559407: 200559407
7 KIF14 NM_014875.2(KIF14): c.3114+3A> C single nucleotide variant Uncertain significance rs776623187 GRCh37 Chromosome 1, 200558342: 200558342
8 KIF14 NM_014875.2(KIF14): c.3114+3A> C single nucleotide variant Uncertain significance rs776623187 GRCh38 Chromosome 1, 200589214: 200589214

Expression for Meckel Syndrome 12

Search GEO for disease gene expression data for Meckel Syndrome 12.

Pathways for Meckel Syndrome 12

GO Terms for Meckel Syndrome 12

Sources for Meckel Syndrome 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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