MCID: CRB163
MIFTS: 21

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

Categories: Nephrological diseases, Neuronal diseases, Liver 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 53
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome 55
Thompson Baraitser Syndrome 69
Thompson-Baraitser Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
hepatic fibrosis-renal cysts-intellectual disability syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
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, and has symptoms including seizures, ptosis and nystagmus. Affiliated tissues include kidney, liver and eye.

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 12.3

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

Symptoms via clinical synopsis from OMIM:

53
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

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

55 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
2 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
4 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
5 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
6 short nose 55 31 frequent (33%) Frequent (79-30%) HP:0003196
7 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
8 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
9 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
10 hypertonia 55 31 frequent (33%) Frequent (79-30%) HP:0001276
11 abnormality of movement 55 31 frequent (33%) Frequent (79-30%) HP:0100022
12 glossoptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000162
13 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
14 biparietal narrowing 55 31 frequent (33%) Frequent (79-30%) HP:0004422
15 hearing abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000364
16 abnormal dermatoglyphics 55 31 frequent (33%) Frequent (79-30%) HP:0007477
17 protruding ear 55 31 frequent (33%) Frequent (79-30%) HP:0000411
18 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
19 underdeveloped nasal alae 55 31 frequent (33%) Frequent (79-30%) HP:0000430
20 chorioretinal coloboma 55 31 frequent (33%) Frequent (79-30%) HP:0000567
21 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
22 multicystic kidney dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000003
23 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
24 congenital hepatic fibrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002612
25 meningocele 55 31 frequent (33%) Frequent (79-30%) HP:0002435
26 blepharophimosis 55 31 frequent (33%) Frequent (79-30%) HP:0000581
27 abnormality of the eye 55 Frequent (79-30%)
28 abnormality of vision 55 Frequent (79-30%)
29 abnormality of the urinary system 31 HP:0000079
30 renal cyst 55 Frequent (79-30%)
31 occipital encephalocele 31 HP:0002085
32 agenesis of cerebellar vermis 31 HP:0002335
33 postaxial polydactyly 31 HP:0100259
34 periportal fibrosis 31 HP:0001405

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:

38
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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