MKS10
MCID: MCK035
MIFTS: 28

Meckel Syndrome, Type 10 (MKS10)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Meckel Syndrome, Type 10

MalaCards integrated aliases for Meckel Syndrome, Type 10:

Name: Meckel Syndrome, Type 10 57 28 5 38 71
Joubert Syndrome 34 57 73 28 5
Meckel Syndrome 10 57 73
Mks10 57 73
Jbts34 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
three mks fetuses and two jbts patients have been reported (as of november 2017)


Classifications:



Summaries for Meckel Syndrome, Type 10

UniProtKB/Swiss-Prot 73 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.

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.

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 liver, tongue and kidney, and related phenotypes are micropenis and dandy-walker malformation

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:

30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micropenis 30 Very rare (1%) HP:0000054
2 dandy-walker malformation 30 Very rare (1%) HP:0001305
3 hypospadias 30 Very rare (1%) HP:0000047
4 postaxial hand polydactyly 30 Very rare (1%) HP:0001162
5 postaxial foot polydactyly 30 Very rare (1%) HP:0001830
6 bifid uvula 30 Very rare (1%) HP:0000193
7 anencephaly 30 Very rare (1%) HP:0002323
8 occipital encephalocele 30 Very rare (1%) HP:0002085
9 renal cyst 30 Very rare (1%) HP:0000107
10 camptodactyly 30 Very rare (1%) HP:0012385
11 ulnar deviation of the hand 30 Very rare (1%) HP:0009487
12 malformation of the hepatic ductal plate 30 Very rare (1%) HP:0006563
13 frontal bossing 30 HP:0002007
14 ptosis 30 HP:0000508
15 cleft palate 30 HP:0000175
16 epicanthus 30 HP:0000286
17 sacral dimple 30 HP:0000960
18 molar tooth sign on mri 30 HP:0002419
19 narrow palpebral fissure 30 HP:0045025
20 seizure 30 HP:0001250
21 abnormal pinna morphology 30 HP:0000377

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Genitourinary External Genitalia Male:
micropenis
hypospadias

Skeletal Feet:
postaxial polydactyly

Head And Neck Ears:
dysplastic ears (jbts)

Head And Neck Mouth:
cleft palate (jbts)
tongue tumors (jbts)
bifid uvula (in 1 mks patient)

Genitourinary Kidneys:
renal cysts (mks)

Skin Nails Hair Skin:
sacral dimple (mks)

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)

Skeletal Limbs:
tibial and fibular mesomelic dysplasia (in 1 jbts patient)
bowed long bones (in 1 mks patient)

Neurologic Central Nervous System:
occipital encephalocele (mks)
anencephaly (in 1 mks patient)
inferior vermian agenesis (in 1 mks patient)
cerebellar hypoplasia (in 1 mks patient)
dilated 4th ventricle (in 1 mks patient)
more

Clinical features from OMIM®:

614175 (Updated 24-Oct-2022)

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 28 B9D2
2 Joubert Syndrome 34 28

Anatomical Context for Meckel Syndrome, Type 10

Organs/tissues related to Meckel Syndrome, Type 10:

MalaCards : Liver, Tongue, Kidney, Brain
ODiseA: Brain, Liver, Kidney

Publications for Meckel Syndrome, Type 10

Articles related to Meckel Syndrome, Type 10:

# Title Authors PMID Year
1
Meckel syndrome: Clinical and mutation profile in six fetuses. 57 5
31411728 2019
2
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 57 5
26092869 2015
3
Disruption of a ciliary B9 protein complex causes Meckel syndrome. 57 5
21763481 2011
4
Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins. 62
32726168 2020

Variations for Meckel Syndrome, Type 10

ClinVar genetic disease variations for Meckel Syndrome, Type 10:

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B9D2 NM_030578.4(B9D2):c.301A>C (p.Ser101Arg) SNV Pathogenic
30931 rs1487082103 GRCh37: 19:41860832-41860832
GRCh38: 19:41354927-41354927
2 B9D2 NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) SNV Pathogenic
217556 rs750436680 GRCh37: 19:41860670-41860670
GRCh38: 19:41354765-41354765
3 B9D2 NM_030578.4(B9D2):c.107T>C (p.Leu36Pro) SNV Pathogenic
217557 rs757863670 GRCh37: 19:41863909-41863909
GRCh38: 19:41358004-41358004
4 B9D2 NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) SNV Pathogenic
217558 rs863225150 GRCh37: 19:41860913-41860913
GRCh38: 19:41355008-41355008
5 B9D2 NM_030578.4(B9D2):c.168C>G (p.Tyr56Ter) SNV Likely Pathogenic
812149 rs1568484575 GRCh37: 19:41863848-41863848
GRCh38: 19:41357943-41357943
6 B9D2 NM_030578.4(B9D2):c.15C>A (p.His5Gln) SNV Likely Pathogenic
684427 rs1388769907 GRCh37: 19:41869410-41869410
GRCh38: 19:41363505-41363505
7 B9D2 NM_030578.4(B9D2):c.484G>T (p.Gly162Cys) SNV Uncertain Significance
1341710 rs760322583 GRCh37: 19:41860649-41860649
GRCh38: 19:41354744-41354744
8 B9D2 NM_030578.4(B9D2):c.214+25T>G SNV Benign
1192349 GRCh37: 19:41863777-41863777
GRCh38: 19:41357872-41357872
9 B9D2 NM_030578.4(B9D2):c.-4-40C>G SNV Benign
1192350 GRCh37: 19:41869468-41869468
GRCh38: 19:41363563-41363563
10 B9D2 NM_030578.4(B9D2):c.-4-60_-4-59insT INSERT Benign
1192351 GRCh37: 19:41869487-41869488
GRCh38: 19:41363582-41363583
11 B9D2 NM_030578.4(B9D2):c.33A>G (p.Ile11Met) SNV Benign
261881 rs2241714 GRCh37: 19:41869392-41869392
GRCh38: 19:41363487-41363487
12 B9D2 NM_030578.4(B9D2):c.*18G>A SNV Benign
261879 rs1800468 GRCh37: 19:41860587-41860587
GRCh38: 19:41354682-41354682

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

73
# Symbol AA change Variation ID SNP ID
1 B9D2 p.Ser101Arg VAR_036626 rs1487082103

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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