MCID: CRB163
MIFTS: 19

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

Categories: Neuronal diseases, Liver diseases, Nephrological 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 54
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome 56
Thompson Baraitser Syndrome 69
Thompson-Baraitser Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
hepatic fibrosis-renal cysts-intellectual disability syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
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 short stature, visual impairment and nystagmus. Affiliated tissues include liver, kidney 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:

id Related Disease Score Top Affiliating Genes
1 thompson baraitser syndrome 12.1

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

Symptoms via clinical synopsis from OMIM:

54

Liver:
periportal fibrosis
bile duct accentuation

Neuro:
cerebellar vermis aplasia
occipital meningoencephalocele

Limbs:
postaxial hexadactyly

Renal:
immature glomeruli
dilated collecting ducts


Clinical features from OMIM:

213010

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

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
3 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
4 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
5 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
6 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
7 hypertonia 56 32 frequent (33%) Frequent (79-30%) HP:0001276
8 ptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000508
9 short nose 56 32 frequent (33%) Frequent (79-30%) HP:0003196
10 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
11 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
12 respiratory insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0002093
13 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
14 blepharophimosis 56 32 frequent (33%) Frequent (79-30%) HP:0000581
15 glossoptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000162
16 chorioretinal coloboma 56 32 frequent (33%) Frequent (79-30%) HP:0000567
17 biparietal narrowing 56 32 frequent (33%) Frequent (79-30%) HP:0004422
18 meningocele 56 32 frequent (33%) Frequent (79-30%) HP:0002435
19 abnormal dermatoglyphics 56 32 frequent (33%) Frequent (79-30%) HP:0007477
20 abnormality of movement 56 32 frequent (33%) Frequent (79-30%) HP:0100022
21 hearing abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0000364
22 protruding ear 56 32 frequent (33%) Frequent (79-30%) HP:0000411
23 underdeveloped nasal alae 56 32 frequent (33%) Frequent (79-30%) HP:0000430
24 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
25 multicystic kidney dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0000003
26 congenital hepatic fibrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002612
27 postaxial polydactyly 32 HP:0100259
28 periportal fibrosis 32 HP:0001405
29 agenesis of cerebellar vermis 32 HP:0002335
30 occipital encephalocele 32 HP:0002085
31 renal cyst 56 Frequent (79-30%)
32 abnormality of the eye 56 Frequent (79-30%)
33 abnormality of vision 56 Frequent (79-30%)
34 abnormality of the urinary system 32 HP:0000079

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:

39
Liver, Kidney, 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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