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

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Aliases & Classifications for Meckel Syndrome 12

MalaCards integrated aliases for Meckel Syndrome 12:

Name: Meckel Syndrome 12 ⁵⁷ ⁷³ ²⁹ ⁶ ⁷¹

Mks12 ⁵⁷ 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®:

⁵⁷ (Updated 05-Mar-2021)

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:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare renal diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 616258

OMIM Phenotypic Series ⁵⁷ PS249000

MeSH ⁴⁴ D002925 D004677 D007690

Orphanet ⁵⁸ ORPHA439897

MedGen ⁴¹ C4015701 CN228389

UMLS ⁷¹ C4015701

Sources

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 brain, and related phenotypes are wide nasal bridge and anteverted nares

More information from OMIM: 616258 PS249000

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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

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Symptoms & Phenotypes for Meckel Syndrome 12

Human phenotypes related to Meckel Syndrome 12:

³¹ (show all 18)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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)

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)

Genitourinary Kidneys:
renal hypoplasia
renal agenesis
cystic dysplasia

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

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 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Meckel Syndrome 12

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome 12

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Genetic Tests for Meckel Syndrome 12

Genetic tests related to Meckel Syndrome 12:

#	Genetic test	Affiliating Genes
1	Meckel Syndrome 12 ²⁹	KIF14

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Anatomical Context for Meckel Syndrome 12

MalaCards organs/tissues related to Meckel Syndrome 12:

⁴⁰

Brain

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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. ⁵⁷ ⁶	Filges I...Friedman JM	24128419	2014
2	Kif14 mutation causes severe brain malformation and hypomyelination. ⁵⁷	Fujikura K...Sakisaka T	23308235	2013
3	Two distinct regions in the model protein Peb1 are critical for its heterologous transport out of Escherichia coli. ⁶¹	Anton L...Westerlund-Wikstrom B	21122159	2010

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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	PubMed IDs
1	KIF14	Kinesin Family Member 14	Protein Coding	1441.88	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	24128419

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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.1514T>C (p.Leu505Pro)	SNV	Likely pathogenic	992963		1:200577998-200577998	1:200608870-200608870
4	KIF14	NM_014875.3(KIF14):c.3114+3A>C	SNV	Uncertain significance	426924	rs776623187	1:200558342-200558342	1:200589214-200589214
5	KIF14	NM_014875.3(KIF14):c.4276A>C (p.Lys1426Gln)	SNV	Uncertain significance	426925	rs1085307854	1:200528535-200528535	1:200559407-200559407

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Expression for Meckel Syndrome 12

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

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Pathways for Meckel Syndrome 12

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GO Terms for Meckel Syndrome 12

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¹ BioSystems

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⁵⁴ Novoseek

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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