MCID: INT231
MIFTS: 21

Intellectual Disability - Athetosis - Microphthalmia

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability - Athetosis - Microphthalmia

MalaCards integrated aliases for Intellectual Disability - Athetosis - Microphthalmia:

Name: Intellectual Disability - Athetosis - Microphthalmia 52
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome 52 58
Intellectual Disability-Athetosis-Microphthalmia Syndrome 52
Bd Syndrome 52

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Intellectual Disability - Athetosis - Microphthalmia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1236 Definition Severe microbrachycephaly-intellectual disability -athetoid cerebral palsy syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia , and cleft palate , associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. Visit the Orphanet disease page for more resources.

MalaCards based summary : Intellectual Disability - Athetosis - Microphthalmia, also known as severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome, is related to behcet syndrome and dyskinetic cerebral palsy. Affiliated tissues include skin and brain, and related phenotypes are hypertelorism and frontal bossing

Related Diseases for Intellectual Disability - Athetosis - Microphthalmia

Diseases related to Intellectual Disability - Athetosis - Microphthalmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 behcet syndrome 11.2
2 dyskinetic cerebral palsy 9.8
3 cerebral palsy 9.8
4 hypotonia 9.8
5 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.8

Graphical network of the top 20 diseases related to Intellectual Disability - Athetosis - Microphthalmia:



Diseases related to Intellectual Disability - Athetosis - Microphthalmia

Symptoms & Phenotypes for Intellectual Disability - Athetosis - Microphthalmia

Human phenotypes related to Intellectual Disability - Athetosis - Microphthalmia:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
6 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
7 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
8 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
9 abnormality of movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0100022
10 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
11 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
12 hypoplasia of the ear cartilage 58 31 hallmark (90%) Very frequent (99-80%) HP:0100720
13 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
14 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
15 large earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009748
16 facial cleft 58 31 hallmark (90%) Very frequent (99-80%) HP:0002006
17 supernumerary nipple 58 31 hallmark (90%) Very frequent (99-80%) HP:0002558
18 dimple chin 31 hallmark (90%) HP:0010751
19 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
20 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
21 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
22 abnormality of the thorax 58 31 frequent (33%) Frequent (79-30%) HP:0000765
23 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
24 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
25 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
26 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
27 abnormal palate morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000174
28 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
29 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
30 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
31 lip pit 58 31 frequent (33%) Frequent (79-30%) HP:0100267
32 abnormal dermatoglyphics 58 Very frequent (99-80%)
33 chin dimple 58 Very frequent (99-80%)

Drugs & Therapeutics for Intellectual Disability - Athetosis - Microphthalmia

Search Clinical Trials , NIH Clinical Center for Intellectual Disability - Athetosis - Microphthalmia

Genetic Tests for Intellectual Disability - Athetosis - Microphthalmia

Anatomical Context for Intellectual Disability - Athetosis - Microphthalmia

MalaCards organs/tissues related to Intellectual Disability - Athetosis - Microphthalmia:

40
Skin, Brain

Publications for Intellectual Disability - Athetosis - Microphthalmia

Articles related to Intellectual Disability - Athetosis - Microphthalmia:

# Title Authors PMID Year
1
Sleep Disturbance in Bipolar Disorder: Neuroglia and Circadian Rhythms. 61
31379620 2019
2
Intracranial pressure and cerebral perfusion pressure in patients developing brain death. 61
27288600 2016
3
Therapeutic alternatives in Behçet's syndrome. 61
17937089 2007
4
Seizure-related brain damage induced by cholinergic agents. 61
6823330 1983
5
Studies of malformation syndromes of man XXXVIII: The BD syndrome. A "new" multiple congenital anomalies/mental retardation syndrome with athetoid cerebral palsy. 61
1179793 1975

Variations for Intellectual Disability - Athetosis - Microphthalmia

Expression for Intellectual Disability - Athetosis - Microphthalmia

Search GEO for disease gene expression data for Intellectual Disability - Athetosis - Microphthalmia.

Pathways for Intellectual Disability - Athetosis - Microphthalmia

GO Terms for Intellectual Disability - Athetosis - Microphthalmia

Sources for Intellectual Disability - Athetosis - Microphthalmia

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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