Meckel Syndrome 12 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Nephrological diseases Eye diseases Bone diseases Liver diseases Endocrine diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare neurological diseases

Rare renal diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 616258

MeSH ⁴⁵ D002925 D004677 D007690

Orphanet ⁶⁰ ORPHA439897

MedGen ⁴³ C4015701 CN228389

UMLS ⁷⁴ C4015701

Sources

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

Sources

Related Diseases for Meckel Syndrome 12

Diseases in the Meckel Syndrome, Type 1 family:

Meckel Syndrome, Type 7	Meckel Syndrome, Type 2
Meckel Syndrome, Type 3	Meckel Syndrome, Type 4
Meckel Syndrome, Type 5	Meckel Syndrome, Type 6
Meckel Syndrome, Type 8	Meckel Syndrome, Type 10
Meckel Syndrome, Type 9	Meckel Syndrome, Type 11
Meckel Syndrome 12	Meckel Syndrome 13

Sources

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

Sources

Drugs & Therapeutics for Meckel Syndrome 12

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome 12

Sources

Genetic Tests for Meckel Syndrome 12

Genetic tests related to Meckel Syndrome 12:

#	Genetic test	Affiliating Genes
1	Meckel Syndrome 12 ³⁰	KIF14

Sources

Anatomical Context for Meckel Syndrome 12

MalaCards organs/tissues related to Meckel Syndrome 12:

⁴²

Occipital Lobe, Liver, Bone, Eye

Sources

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 )	Filges I...Friedman JM	2014

Sources

Genes for Meckel Syndrome 12

Genes related to Meckel Syndrome 12 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KIF14	Kinesin Family Member 14	Protein Coding	1427.05	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	24128419

Sources

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

Sources

Expression for Meckel Syndrome 12

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

Sources

Pathways for Meckel Syndrome 12

Sources

GO Terms for Meckel Syndrome 12

Sources

Sources for Meckel Syndrome 12

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Meckel Syndrome 12 (MKS12)

Aliases & Classifications for Meckel Syndrome 12

MalaCards integrated aliases for Meckel Syndrome 12:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Meckel Syndrome 12

Related Diseases for Meckel Syndrome 12

Diseases in the Meckel Syndrome, Type 1 family:

Symptoms & Phenotypes for Meckel Syndrome 12

Human phenotypes related to Meckel Syndrome 12:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Meckel Syndrome 12

Genetic Tests for Meckel Syndrome 12

Genetic tests related to Meckel Syndrome 12:

Anatomical Context for Meckel Syndrome 12

MalaCards organs/tissues related to Meckel Syndrome 12:

Publications for Meckel Syndrome 12

Articles related to Meckel Syndrome 12:

Genes for Meckel Syndrome 12

Genes related to Meckel Syndrome 12 (1 elite genes):

Variations for Meckel Syndrome 12

ClinVar genetic disease variations for Meckel Syndrome 12:

Expression for Meckel Syndrome 12

Pathways for Meckel Syndrome 12

GO Terms for Meckel Syndrome 12

Sources for Meckel Syndrome 12