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 57 75 29 6 73
Mks12 57 75
Lethal Fetal Cerebrorenogenitourinary Agenesis/hypoplasia Syndrome 59
Meckel Syndrome, Type 12 40

Characteristics:

Orphanet epidemiological data:

59
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: embryofetal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
meckel syndrome 12:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome 12

UniProtKB/Swiss-Prot : 75 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 liver, bone and eye, and related phenotypes are low-set ears and agenesis of corpus callosum

Description from OMIM: 616258

Related Diseases for Meckel Syndrome 12

Symptoms & Phenotypes for Meckel Syndrome 12

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Meckel Syndrome 12:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 occasional (7.5%) HP:0000369
2 agenesis of corpus callosum 32 HP:0001274
3 wide nasal bridge 32 occasional (7.5%) HP:0000431
4 microcephaly 32 HP:0000252
5 anteverted nares 32 occasional (7.5%) HP:0000463
6 micrognathia 32 occasional (7.5%) HP:0000347
7 intrauterine growth retardation 32 HP:0001511
8 arthrogryposis multiplex congenita 32 HP:0002804
9 cerebellar hypoplasia 32 HP:0001321
10 renal hypoplasia 32 HP:0000089
11 oligohydramnios 32 HP:0001562
12 sloping forehead 32 HP:0000340
13 bifid uvula 32 occasional (7.5%) HP:0000193
14 rocker bottom foot 32 HP:0001838
15 renal agenesis 32 HP:0000104
16 vaginal atresia 32 occasional (7.5%) HP:0000148
17 cerebral hypoplasia 32 HP:0006872

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:

41
Liver, Bone, Eye, Occipital Lobe

Publications for Meckel Syndrome 12

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_014875.2(KIF14): c.1780A> T (p.Arg594Ter) single nucleotide variant Pathogenic rs786201013 GRCh37 Chromosome 1, 200573050: 200573050
4 KIF14 NM_014875.2(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 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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