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 57 12 75 29 6
Joubert Syndrome 29 57 12 75 6
Mks13 57 75
Jbts29 75

Characteristics:

OMIM:

57
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 : 75 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 bone, and related phenotypes are intellectual disability and ataxia

Description from OMIM: 617562

Related Diseases for Meckel Syndrome 13

Symptoms & Phenotypes for Meckel Syndrome 13

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Meckel Syndrome 13:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 HP:0001251
3 global developmental delay 32 HP:0001263
4 retinopathy 32 HP:0000488
5 cerebellar hypoplasia 32 HP:0001321
6 oculomotor apraxia 32 HP:0000657
7 molar tooth sign on mri 32 HP:0002419
8 occipital encephalocele 32 HP:0002085

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

Anatomical Context for Meckel Syndrome 13

MalaCards organs/tissues related to Meckel Syndrome 13:

41
Liver, Kidney, Bone, Eye, Brain

Publications for Meckel Syndrome 13

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_318delTTC (p.Phe106del) deletion Pathogenic rs752171066 GRCh37 Chromosome 17, 8077891: 8077893
2 TMEM107 NM_032354.4(TMEM107): c.316_318delTTC (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 GRCh38 Chromosome 17, 8174242: 8174242
6 TMEM107 NM_032354.4(TMEM107): c.402delA (p.Leu134Phefs) deletion Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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