MCID: CRB163
MIFTS: 19

Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome

Categories: Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Vermis Aplasia with Associated Features Suggesting...

MalaCards integrated aliases for Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome:

Name: Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 58
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome 60
Thompson Baraitser Syndrome 74
Thompson-Baraitser Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
hepatic fibrosis-renal cysts-intellectual disability syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebellar Vermis Aplasia with Associated Features Suggesting...

MalaCards based summary : Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome, also known as hepatic fibrosis-renal cysts-intellectual disability syndrome, is related to thompson baraitser syndrome. Affiliated tissues include kidney, liver and eye, and related phenotypes are ptosis and intellectual disability

Description from OMIM: 213010

Related Diseases for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Diseases related to Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 thompson baraitser syndrome 12.5

Symptoms & Phenotypes for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Human phenotypes related to Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 congenital hepatic fibrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002612
4 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
5 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
6 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
7 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
8 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
9 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
10 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
11 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
12 abnormality of movement 60 33 frequent (33%) Frequent (79-30%) HP:0100022
13 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162
14 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
15 biparietal narrowing 60 33 frequent (33%) Frequent (79-30%) HP:0004422
16 hearing abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000364
17 abnormal dermatoglyphics 60 33 frequent (33%) Frequent (79-30%) HP:0007477
18 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
19 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
20 underdeveloped nasal alae 60 33 frequent (33%) Frequent (79-30%) HP:0000430
21 chorioretinal coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000567
22 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
23 multicystic kidney dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000003
24 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
25 meningocele 60 33 frequent (33%) Frequent (79-30%) HP:0002435
26 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
27 abnormality of the eye 60 Frequent (79-30%)
28 abnormality of vision 60 Frequent (79-30%)
29 abnormality of the urinary system 33 HP:0000079
30 renal cyst 60 Frequent (79-30%)
31 occipital encephalocele 33 HP:0002085
32 agenesis of cerebellar vermis 33 HP:0002335
33 postaxial polydactyly 33 HP:0100259
34 periportal fibrosis 33 HP:0001405

Symptoms via clinical synopsis from OMIM:

58
Neuro:
cerebellar vermis aplasia
occipital meningoencephalocele

Renal:
immature glomeruli
dilated collecting ducts

Limbs:
postaxial hexadactyly

Liver:
periportal fibrosis
bile duct accentuation

Clinical features from OMIM:

213010

Drugs & Therapeutics for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Search Clinical Trials , NIH Clinical Center for Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome

Genetic Tests for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Anatomical Context for Cerebellar Vermis Aplasia with Associated Features Suggesting...

MalaCards organs/tissues related to Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome:

42
Kidney, Liver, Eye

Publications for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Variations for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Expression for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Search GEO for disease gene expression data for Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome.

Pathways for Cerebellar Vermis Aplasia with Associated Features Suggesting...

GO Terms for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Sources for Cerebellar Vermis Aplasia with Associated Features Suggesting...

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
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