MCID: CRB163
MIFTS: 20

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 57
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome 59
Thompson Baraitser Syndrome 73
Thompson-Baraitser Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hepatic fibrosis-renal cysts-intellectual disability syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
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. Affiliated tissues include kidney, liver and eye, and related phenotypes are ptosis and nystagmus

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:

57
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:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
2 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
6 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
7 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
8 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
11 abnormality of movement 59 32 frequent (33%) Frequent (79-30%) HP:0100022
12 glossoptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000162
13 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
14 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
15 hearing abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000364
16 abnormal dermatoglyphics 59 32 frequent (33%) Frequent (79-30%) HP:0007477
17 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
18 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
19 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
20 chorioretinal coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000567
21 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
22 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
23 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
24 congenital hepatic fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002612
25 meningocele 59 32 frequent (33%) Frequent (79-30%) HP:0002435
26 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
27 abnormality of the eye 59 Frequent (79-30%)
28 abnormality of vision 59 Frequent (79-30%)
29 abnormality of the urinary system 32 HP:0000079
30 renal cyst 59 Frequent (79-30%)
31 occipital encephalocele 32 HP:0002085
32 agenesis of cerebellar vermis 32 HP:0002335
33 postaxial polydactyly 32 HP:0100259
34 periportal fibrosis 32 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:

41
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 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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