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 56
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome 58
Thompson-Baraitser Syndrome 58
Thompson Baraitser Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
hepatic fibrosis-renal cysts-intellectual disability syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Rare renal diseases


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, is also known as hepatic fibrosis-renal cysts-intellectual disability syndrome. Affiliated tissues include kidney, eye and liver, and related phenotypes are intellectual disability and ptosis

More information from OMIM: 213010

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

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:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 congenital hepatic fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002612
4 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
7 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
10 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
11 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
12 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
13 abnormality of movement 58 31 frequent (33%) Frequent (79-30%) HP:0100022
14 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
15 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
16 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
17 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
18 hearing abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000364
19 abnormal dermatoglyphics 58 31 frequent (33%) Frequent (79-30%) HP:0007477
20 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
21 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
22 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
23 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
24 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
25 meningocele 58 31 frequent (33%) Frequent (79-30%) HP:0002435
26 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
27 renal cyst 58 Frequent (79-30%)
28 abnormality of the eye 58 Frequent (79-30%)
29 abnormality of vision 58 Frequent (79-30%)
30 agenesis of cerebellar vermis 31 HP:0002335
31 abnormality of the urinary system 31 HP:0000079
32 occipital encephalocele 31 HP:0002085
33 postaxial polydactyly 31 HP:0100259
34 periportal fibrosis 31 HP:0001405

Symptoms via clinical synopsis from OMIM:

56
Liver:
periportal fibrosis
bile duct accentuation

Limbs:
postaxial hexadactyly

Neuro:
cerebellar vermis aplasia
occipital meningoencephalocele

Renal:
immature glomeruli
dilated collecting ducts

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:

40
Kidney, Eye, Liver

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

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

# Title Authors PMID Year
1
Nosology of Smith-Lemli-Opitz syndrome. 56
3322012 1987
2
A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects. 56
3812585 1987
3
An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts. 56
3085498 1986
4
Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome. 56
6859094 1983
5
Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings. 56
4430157 1974

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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