JBTS34
MCID: MCK035
MIFTS: 26

Meckel Syndrome, Type 10 (JBTS34)

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 58 30 6 41 74
Joubert Syndrome 34 58 76 6
Meckel Syndrome 10 58 76 13
Mks10 58 76
Jbts34 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
meckel syndrome, type 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 10

UniProtKB/Swiss-Prot : 76 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 liver, tongue and bone, and related phenotypes are anencephaly and ptosis

Description from OMIM: 614175

Related Diseases for Meckel Syndrome, Type 10

Symptoms & Phenotypes for Meckel Syndrome, Type 10

Human phenotypes related to Meckel Syndrome, Type 10:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 anencephaly 33 occasional (7.5%) HP:0002323
2 ptosis 33 HP:0000508
3 seizures 33 HP:0001250
4 cleft palate 33 HP:0000175
5 epicanthus 33 HP:0000286
6 hypospadias 33 HP:0000047
7 sacral dimple 33 HP:0000960
8 micropenis 33 HP:0000054
9 renal cyst 33 HP:0000107
10 molar tooth sign on mri 33 HP:0002419
11 occipital encephalocele 33 HP:0002085
12 narrow palpebral fissure 33 HP:0045025
13 postaxial polydactyly 33 HP:0100259

Symptoms via clinical synopsis from OMIM:

58
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

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 30 B9D2

Anatomical Context for Meckel Syndrome, Type 10

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

42
Liver, Tongue, Bone, Eye

Publications for Meckel Syndrome, Type 10

Articles related to Meckel Syndrome, Type 10:

# Title Authors Year
1
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. ( 26092869 )
2015
2
Disruption of a ciliary B9 protein complex causes Meckel syndrome. ( 21763481 )
2011

Variations for Meckel Syndrome, Type 10

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

76
# Symbol AA change Variation ID SNP ID
1 B9D2 p.Ser101Arg VAR_036626 rs148708210

ClinVar genetic disease variations for Meckel Syndrome, Type 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 B9D2 NM_030578.4(B9D2): c.301A> C (p.Ser101Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 41860832: 41860832
2 B9D2 NM_030578.4(B9D2): c.301A> C (p.Ser101Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 41354927: 41354927
3 B9D2 NM_030578.3(B9D2): c.33A> G (p.Ile11Met) single nucleotide variant Benign rs2241714 GRCh38 Chromosome 19, 41363487: 41363487
4 B9D2 NM_030578.3(B9D2): c.33A> G (p.Ile11Met) single nucleotide variant Benign rs2241714 GRCh37 Chromosome 19, 41869392: 41869392
5 B9D2 B9D2, LEU36PRO undetermined variant Pathogenic
6 B9D2 B9D2, GLY155SER undetermined variant Pathogenic
7 B9D2 B9D2, PRO74SER undetermined variant Pathogenic

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
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
Content
Loading form....