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 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:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Rare renal diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 616258

Orphanet ⁵⁹ ORPHA439897

MedGen ⁴² C4015701 CN228389

MeSH ⁴⁴ D002925 D004677 D007690

UMLS ⁷³ C4015701

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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 occipital lobe, and related phenotypes are renal hypoplasia and renal agenesis

Description from OMIM: 616258

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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

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

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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:

⁴¹

Occipital Lobe

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Publications for Meckel Syndrome 12

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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	PubmedIds
1	KIF14	Kinesin Family Member 14	Protein Coding	1427.21	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ 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	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

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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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Sources for Meckel Syndrome 12

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁶ MGI

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⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia