MKS13
MCID: MCK028
MIFTS: 27

Meckel Syndrome 13 (MKS13)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Meckel Syndrome 13

MalaCards integrated aliases for Meckel Syndrome 13:

Name: Meckel Syndrome 13 58 12 76 30 6
Joubert Syndrome 29 58 12 76 6
Mks13 58 76
Jbts29 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
perinatal death in patients with mks13
one patient with jbts29 has been reported (last curated july 2017)


Classifications:



Summaries for Meckel Syndrome 13

UniProtKB/Swiss-Prot : 76 Joubert syndrome 29: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS29 inheritance is autosomal recessive. Meckel syndrome 13: 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 13, also known as joubert syndrome 29, is related to leukoencephalopathy, brain calcifications, and cysts and orofaciodigital syndrome xvi. An important gene associated with Meckel Syndrome 13 is TMEM107 (Transmembrane Protein 107). Affiliated tissues include liver, kidney and brain, and related phenotypes are intellectual disability and ataxia

Description from OMIM: 617562

Related Diseases for Meckel Syndrome 13

Symptoms & Phenotypes for Meckel Syndrome 13

Human phenotypes related to Meckel Syndrome 13:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 ataxia 33 HP:0001251
3 global developmental delay 33 HP:0001263
4 retinopathy 33 HP:0000488
5 cerebellar hypoplasia 33 HP:0001321
6 oculomotor apraxia 33 HP:0000657
7 molar tooth sign on mri 33 HP:0002419
8 occipital encephalocele 33 HP:0002085

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
occipital encephalocele (mks)
molar tooth sign (jbts)
delayed psychomotor development (jbts)
intellectual disability (jbts)
ataxia (jbts)
more
Head And Neck Eyes:
retinopathy (jbts)
oculomotor apraxia (jbts)

Genitourinary Kidneys:
polycystic kidneys (mks)

Head And Neck Face:
micrognathia (mks)

Abdomen Liver:
liver abnormalities (jbts)

Skeletal:
contractures (mks)

Clinical features from OMIM:

617562

Drugs & Therapeutics for Meckel Syndrome 13

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome 13

Genetic Tests for Meckel Syndrome 13

Genetic tests related to Meckel Syndrome 13:

# Genetic test Affiliating Genes
1 Meckel Syndrome 13 30 TMEM107

Anatomical Context for Meckel Syndrome 13

MalaCards organs/tissues related to Meckel Syndrome 13:

42
Liver, Kidney, Brain, Bone, Eye

Publications for Meckel Syndrome 13

Articles related to Meckel Syndrome 13:

# Title Authors Year
1
TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome. ( 26518474 )
2016
2
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. ( 26595381 )
2016
3
Identification of a novel MKS locus defined by TMEM107 mutation. ( 26123494 )
2015

Variations for Meckel Syndrome 13

ClinVar genetic disease variations for Meckel Syndrome 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM107 NM_032354.4(TMEM107): c.316_318del (p.Phe106del) deletion Pathogenic rs752171066 GRCh37 Chromosome 17, 8077891: 8077893
2 TMEM107 NM_032354.4(TMEM107): c.316_318del (p.Phe106del) deletion Pathogenic rs752171066 GRCh38 Chromosome 17, 8174573: 8174575
3 TMEM107 NM_032354.4(TMEM107): c.274+1G> A single nucleotide variant Pathogenic rs1131692180 GRCh37 Chromosome 17, 8079074: 8079074
4 TMEM107 NM_032354.4(TMEM107): c.274+1G> A single nucleotide variant Pathogenic rs1131692180 GRCh38 Chromosome 17, 8175756: 8175756
5 TMEM107 NM_032354.4(TMEM107): c.402delA (p.Leu134Phefs) deletion Pathogenic rs1555525895 GRCh38 Chromosome 17, 8174242: 8174242
6 TMEM107 NM_032354.4(TMEM107): c.402delA (p.Leu134Phefs) deletion Pathogenic rs1555525895 GRCh37 Chromosome 17, 8077560: 8077560

Expression for Meckel Syndrome 13

Search GEO for disease gene expression data for Meckel Syndrome 13.

Pathways for Meckel Syndrome 13

GO Terms for Meckel Syndrome 13

Sources for Meckel Syndrome 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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