MKS12
MCID: MCK026
MIFTS: 25

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 56 73 29 6 71
Mks12 56 73
Lethal Fetal Cerebrorenogenitourinary Agenesis/hypoplasia Syndrome 58
Meckel Syndrome, Type 12 39

Characteristics:

Orphanet epidemiological data:

58
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: embryofetal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
meckel syndrome 12:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Meckel Syndrome 12

UniProtKB/Swiss-Prot : 73 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, brain and eye, and related phenotypes are low-set ears and wide nasal bridge

More information from OMIM: 616258 PS249000

Related Diseases for Meckel Syndrome 12

Symptoms & Phenotypes for Meckel Syndrome 12

Human phenotypes related to Meckel Syndrome 12:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 occasional (7.5%) HP:0000369
2 wide nasal bridge 31 occasional (7.5%) HP:0000431
3 micrognathia 31 occasional (7.5%) HP:0000347
4 anteverted nares 31 occasional (7.5%) HP:0000463
5 bifid uvula 31 occasional (7.5%) HP:0000193
6 vaginal atresia 31 occasional (7.5%) HP:0000148
7 agenesis of corpus callosum 31 HP:0001274
8 intrauterine growth retardation 31 HP:0001511
9 microcephaly 31 HP:0000252
10 arthrogryposis multiplex congenita 31 HP:0002804
11 sloping forehead 31 HP:0000340
12 cerebellar hypoplasia 31 HP:0001321
13 rocker bottom foot 31 HP:0001838
14 oligohydramnios 31 HP:0001562
15 renal hypoplasia 31 HP:0000089
16 renal agenesis 31 HP:0000104
17 cerebral hypoplasia 31 HP:0006872
18 ureteral hypoplasia 31 HP:0032464

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

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

Genitourinary Kidneys:
renal hypoplasia
renal agenesis
cystic dysplasia

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)

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

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary Ureters:
ureteral hypoplasia

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)

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 29 KIF14

Anatomical Context for Meckel Syndrome 12

MalaCards organs/tissues related to Meckel Syndrome 12:

40
Occipital Lobe, Brain, Eye, Bone, Liver

Publications for Meckel Syndrome 12

Articles related to Meckel Syndrome 12:

# Title Authors PMID Year
1
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. 56 6
24128419 2014
2
Kif14 mutation causes severe brain malformation and hypomyelination. 56
23308235 2013
3
Two distinct regions in the model protein Peb1 are critical for its heterologous transport out of Escherichia coli. 61
21122159 2010

Variations for Meckel Syndrome 12

ClinVar genetic disease variations for Meckel Syndrome 12:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF14 NM_014875.3(KIF14):c.1750_1751del (p.Glu584fs)deletion Pathogenic 183396 rs786201012 1:200573079-200573080 1:200603951-200603952
2 KIF14 NM_014875.3(KIF14):c.1780A>T (p.Arg594Ter)SNV Pathogenic 183397 rs786201013 1:200573050-200573050 1:200603922-200603922
3 KIF14 NM_014875.3(KIF14):c.4276A>C (p.Lys1426Gln)SNV Uncertain significance 426925 rs1085307854 1:200528535-200528535 1:200559407-200559407
4 KIF14 NM_014875.3(KIF14):c.3114+3A>CSNV Uncertain significance 426924 rs776623187 1:200558342-200558342 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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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