MKS13
MCID: MCK028
MIFTS: 26

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 56 12 73 29 6
Joubert Syndrome 29 56 12 73 29 6
Mks13 56 73
Jbts29 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
meckel syndrome 13:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome 13

UniProtKB/Swiss-Prot : 73 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, is also known as joubert syndrome 29. An important gene associated with Meckel Syndrome 13 is TMEM107 (Transmembrane Protein 107). Affiliated tissues include liver, kidney and eye, and related phenotypes are intellectual disability and ataxia

More information from OMIM: 617562 PS213300 PS249000

Related Diseases for Meckel Syndrome 13

Symptoms & Phenotypes for Meckel Syndrome 13

Human phenotypes related to Meckel Syndrome 13:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 ataxia 31 HP:0001251
3 global developmental delay 31 HP:0001263
4 micrognathia 31 HP:0000347
5 flexion contracture 31 HP:0001371
6 retinopathy 31 HP:0000488
7 cerebellar hypoplasia 31 HP:0001321
8 polycystic kidney dysplasia 31 HP:0000113
9 oculomotor apraxia 31 HP:0000657
10 molar tooth sign on mri 31 HP:0002419
11 occipital encephalocele 31 HP:0002085

Symptoms via clinical synopsis from OMIM:

56
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 29 TMEM107
2 Joubert Syndrome 29 29

Anatomical Context for Meckel Syndrome 13

MalaCards organs/tissues related to Meckel Syndrome 13:

40
Liver, Kidney, Eye, Bone

Publications for Meckel Syndrome 13

Articles related to Meckel Syndrome 13:

# Title Authors PMID Year
1
Identification of a novel MKS locus defined by TMEM107 mutation. 61 56 6
26123494 2015
2
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. 56 6
26595381 2016
3
TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome. 6
26518474 2016
4
Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling. 56
22698544 2012
5
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
6
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
7
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
8
Joubert Syndrome 6
20301500 2003

Variations for Meckel Syndrome 13

ClinVar genetic disease variations for Meckel Syndrome 13:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM107 NM_183065.4(TMEM107):c.295_297TTC[1] (p.Phe100del)short repeat Pathogenic 212717 rs752171066 17:8077891-8077893 17:8174573-8174575
2 TMEM107 NM_183065.4(TMEM107):c.256+1G>ASNV Pathogenic 430701 rs1131692180 17:8079074-8079074 17:8175756-8175756
3 TMEM107 NM_183065.4(TMEM107):c.384del (p.Leu128fs)deletion Pathogenic 430704 rs1555525895 17:8077560-8077560 17:8174242-8174242

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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