MCID: INT232
MIFTS: 20

Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability - Hypoplastic Corpus Callosum -...

MalaCards integrated aliases for Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag:

Name: Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 52
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome 52 58
Da Silva Syndrome 52 58

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood,infantile;

HPO:

31
intellectual disability - hypoplastic corpus callosum - preauricular tag:
Clinical modifier death in infancy


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Intellectual Disability - Hypoplastic Corpus Callosum -...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1495 Definition Intellectual disability -hypoplastic corpus callosum -preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly , severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive . Visit the Orphanet disease page for more resources.

MalaCards based summary : Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag, also known as intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome, is related to richieri costa da silva syndrome and myotonia with skeletal abnormalities and mental retardation. Affiliated tissues include skin and heart, and related phenotypes are delayed skeletal maturation and microcephaly

Related Diseases for Intellectual Disability - Hypoplastic Corpus Callosum -...

Diseases related to Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 richieri costa da silva syndrome 12.8
2 myotonia with skeletal abnormalities and mental retardation 11.7
3 acrocallosal syndrome 11.5
4 corpus callosum, agenesis of 10.1
5 microcephaly 10.1

Graphical network of the top 20 diseases related to Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag:



Diseases related to Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag

Symptoms & Phenotypes for Intellectual Disability - Hypoplastic Corpus Callosum -...

Human phenotypes related to Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
6 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
7 preauricular skin tag 58 31 hallmark (90%) Very frequent (99-80%) HP:0000384
8 recurrent pneumonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006532
9 hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002079
10 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
11 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
12 talipes 58 31 frequent (33%) Frequent (79-30%) HP:0001883
13 abnormal palate morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000174
14 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
15 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
16 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
17 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
18 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
19 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
20 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
21 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
22 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
23 abnormality of the voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001608
24 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
25 malformation of the heart and great vessels 58 Occasional (29-5%)
26 death in infancy 58 Frequent (79-30%)
27 growth delay 58 Very frequent (99-80%)
28 abnormality of immune system physiology 58 Very frequent (99-80%)

Drugs & Therapeutics for Intellectual Disability - Hypoplastic Corpus Callosum -...

Search Clinical Trials , NIH Clinical Center for Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag

Genetic Tests for Intellectual Disability - Hypoplastic Corpus Callosum -...

Anatomical Context for Intellectual Disability - Hypoplastic Corpus Callosum -...

MalaCards organs/tissues related to Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag:

40
Skin, Heart

Publications for Intellectual Disability - Hypoplastic Corpus Callosum -...

Articles related to Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag:

# Title Authors PMID Year
1
[da-Silva syndrome]. 61
11462554 2001
2
Delineation of the da-Silva syndrome. 61
8209892 1994

Variations for Intellectual Disability - Hypoplastic Corpus Callosum -...

Expression for Intellectual Disability - Hypoplastic Corpus Callosum -...

Search GEO for disease gene expression data for Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag.

Pathways for Intellectual Disability - Hypoplastic Corpus Callosum -...

GO Terms for Intellectual Disability - Hypoplastic Corpus Callosum -...

Sources for Intellectual Disability - Hypoplastic Corpus Callosum -...

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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