MKS10
MCID: MCK035
MIFTS: 25

Meckel Syndrome, Type 10 (MKS10)

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

Aliases & Classifications for Meckel Syndrome, Type 10

MalaCards integrated aliases for Meckel Syndrome, Type 10:

Name: Meckel Syndrome, Type 10 57 29 6 39 70
Joubert Syndrome 34 57 72 29 6
Meckel Syndrome 10 57 72 29 13
Mks10 57 72
Jbts34 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two mks fetuses and two jbts patients have been reported (as of november 2017)


HPO:

31
meckel syndrome, type 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 10

UniProtKB/Swiss-Prot : 72 Joubert syndrome 34: 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. JBTS34 inheritance is autosomal recessive.
Meckel syndrome 10: 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, Type 10, is also known as joubert syndrome 34. An important gene associated with Meckel Syndrome, Type 10 is B9D2 (B9 Domain Containing 2). Affiliated tissues include tongue, and related phenotypes are anencephaly and frontal bossing

More information from OMIM: 614175 PS213300 PS249000

Related Diseases for Meckel Syndrome, Type 10

Symptoms & Phenotypes for Meckel Syndrome, Type 10

Human phenotypes related to Meckel Syndrome, Type 10:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 anencephaly 31 occasional (7.5%) HP:0002323
2 frontal bossing 31 HP:0002007
3 ptosis 31 HP:0000508
4 cleft palate 31 HP:0000175
5 epicanthus 31 HP:0000286
6 micropenis 31 HP:0000054
7 hypospadias 31 HP:0000047
8 sacral dimple 31 HP:0000960
9 molar tooth sign on mri 31 HP:0002419
10 occipital encephalocele 31 HP:0002085
11 renal cyst 31 HP:0000107
12 abnormality of the pinna 31 HP:0000377
13 narrow palpebral fissure 31 HP:0045025
14 postaxial polydactyly 31 HP:0100259
15 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Hands:
postaxial polydactyly

Head And Neck Head:
frontal bossing (jbts)

Head And Neck Eyes:
ptosis (jbts)
epicanthus (jbts)
small palpebral fissures (jbts)

Abdomen Biliary Tract:
ductal plate malformation (mks)
persistent of bile duct remnants (mks)

Genitourinary Kidneys:
renal cysts (mks)

Skin Nails Hair Skin:
sacral dimple (mks)

Skeletal Feet:
postaxial polydactyly

Head And Neck Ears:
dysplastic ears (jbts)

Head And Neck Mouth:
cleft palate (jbts)
tongue tumors (jbts)

Genitourinary External Genitalia Male:
micropenis (jbts)
hypospadias (jbts)

Skeletal Limbs:
tibial and fibular mesomelic dysplasia (1 jbts patient)

Neurologic Central Nervous System:
anencephaly (1 mks patient)
occipital encephalocele (mks)
seizures (jbts)
molar tooth sign (jbts)
foramen magnum encephalocele (1 jbts patient)

Clinical features from OMIM®:

614175 (Updated 05-Apr-2021)

Drugs & Therapeutics for Meckel Syndrome, Type 10

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 10

Genetic Tests for Meckel Syndrome, Type 10

Genetic tests related to Meckel Syndrome, Type 10:

# Genetic test Affiliating Genes
1 Meckel Syndrome, Type 10 29 B9D2
2 Joubert Syndrome 34 29
3 Meckel Syndrome 10 29

Anatomical Context for Meckel Syndrome, Type 10

MalaCards organs/tissues related to Meckel Syndrome, Type 10:

40
Tongue

Publications for Meckel Syndrome, Type 10

Articles related to Meckel Syndrome, Type 10:

# Title Authors PMID Year
1
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 6 57
26092869 2015
2
Disruption of a ciliary B9 protein complex causes Meckel syndrome. 6 57
21763481 2011
3
Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins. 61
32726168 2020

Variations for Meckel Syndrome, Type 10

ClinVar genetic disease variations for Meckel Syndrome, Type 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B9D2 B9D2, LEU36PRO Variation Pathogenic 446261 GRCh37:
GRCh38:
2 B9D2 B9D2, GLY155SER Variation Pathogenic 446262 GRCh37:
GRCh38:
3 B9D2 B9D2, PRO74SER Variation Pathogenic 446263 GRCh37:
GRCh38:
4 B9D2 NM_030578.4(B9D2):c.301A>C (p.Ser101Arg) SNV Pathogenic 30931 rs1487082103 GRCh37: 19:41860832-41860832
GRCh38: 19:41354927-41354927
5 B9D2 NM_030578.4(B9D2):c.15C>A (p.His5Gln) SNV Likely pathogenic 684427 rs1388769907 GRCh37: 19:41869410-41869410
GRCh38: 19:41363505-41363505
6 B9D2 NM_030578.4(B9D2):c.168C>G (p.Tyr56Ter) SNV Likely pathogenic 812149 rs1568484575 GRCh37: 19:41863848-41863848
GRCh38: 19:41357943-41357943
7 B9D2 NM_030578.4(B9D2):c.33A>G (p.Ile11Met) SNV Benign 261881 rs2241714 GRCh37: 19:41869392-41869392
GRCh38: 19:41363487-41363487

UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 10:

72
# Symbol AA change Variation ID SNP ID
1 B9D2 p.Ser101Arg VAR_036626 rs148708210

Expression for Meckel Syndrome, Type 10

Search GEO for disease gene expression data for Meckel Syndrome, Type 10.

Pathways for Meckel Syndrome, Type 10

GO Terms for Meckel Syndrome, Type 10

Sources for Meckel Syndrome, Type 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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