MCID: INT232
MIFTS: 18

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 53
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome 53 59
Da Silva Syndrome 53 59

Characteristics:

Orphanet epidemiological data:

59
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:

32
intellectual disability - hypoplastic corpus callosum - preauricular tag:
Clinical modifier death in infancy


Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.8
Orphanet 59 ORPHA1495

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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1495DefinitionIntellectual 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 11.6
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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
2 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
3 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
4 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
5 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
6 ventriculomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002119
7 preauricular skin tag 59 32 hallmark (90%) Very frequent (99-80%) HP:0000384
8 recurrent pneumonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006532
9 hypoplasia of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002079
10 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
11 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
12 talipes 59 32 frequent (33%) Frequent (79-30%) HP:0001883
13 abnormal palate morphology 59 32 frequent (33%) Frequent (79-30%) HP:0000174
14 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
15 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
16 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
17 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
18 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
19 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
20 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
21 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
22 abnormality of the voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001608
23 high forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000348
24 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
25 malformation of the heart and great vessels 59 Occasional (29-5%)
26 death in infancy 59 Frequent (79-30%)
27 growth delay 59 Very frequent (99-80%)
28 abnormality of immune system physiology 59 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:

41
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]. 38
11462554 2001
2
Delineation of the da-Silva syndrome. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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