MCID: MCK035
MIFTS: 22

Meckel Syndrome, Type 10

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

Aliases & Classifications for Meckel Syndrome, Type 10

MalaCards integrated aliases for Meckel Syndrome, Type 10:

Name: Meckel Syndrome, Type 10 57 29 6 40 73
Joubert Syndrome 34 57 75 6
Meckel Syndrome 10 57 75 13
Mks10 57 75
Jbts34 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
meckel syndrome, type 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 10

UniProtKB/Swiss-Prot : 75 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 and tongue, and related phenotypes are sacral dimple and anencephaly

Description from OMIM: 614175

Related Diseases for Meckel Syndrome, Type 10

Symptoms & Phenotypes for Meckel Syndrome, Type 10

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Meckel Syndrome, Type 10:

32
# Description HPO Frequency HPO Source Accession
1 sacral dimple 32 HP:0000960
2 anencephaly 32 occasional (7.5%) HP:0002323
3 renal cyst 32 HP:0000107
4 occipital encephalocele 32 HP:0002085
5 postaxial polydactyly 32 HP:0100259

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

Anatomical Context for Meckel Syndrome, Type 10

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

41
Liver, Tongue

Publications for Meckel Syndrome, Type 10

Variations for Meckel Syndrome, Type 10

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

75
# Symbol AA change Variation ID SNP ID
1 B9D2 p.Ser101Arg VAR_036626

ClinVar genetic disease variations for Meckel Syndrome, Type 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 B9D2 B9D2, SER101ARG single nucleotide variant Pathogenic
2 B9D2 NM_030578.3(B9D2): c.33A> G (p.Ile11Met) single nucleotide variant Benign rs2241714 GRCh38 Chromosome 19, 41363487: 41363487
3 B9D2 NM_030578.3(B9D2): c.33A> G (p.Ile11Met) single nucleotide variant Benign rs2241714 GRCh37 Chromosome 19, 41869392: 41869392
4 B9D2 B9D2, LEU36PRO undetermined variant Pathogenic
5 B9D2 B9D2, GLY155SER undetermined variant Pathogenic
6 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 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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