MCID: INT298
MIFTS: 14

Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome

Categories: Endocrine diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability-Obesity-Brain Malformations-Facial...

MalaCards integrated aliases for Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome:

Name: Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 58
Autosomal Recessive Intellectual Disability Due to Trappc9 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Intellectual Disability-Obesity-Brain Malformations-Facial...

MalaCards based summary : Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome, is also known as autosomal recessive intellectual disability due to trappc9 deficiency. An important gene associated with Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome is TRAPPC9 (Trafficking Protein Particle Complex 9). Affiliated tissues include brain, and related phenotypes are hypertelorism and obesity

Related Diseases for Intellectual Disability-Obesity-Brain Malformations-Facial...

Symptoms & Phenotypes for Intellectual Disability-Obesity-Brain Malformations-Facial...

Human phenotypes related to Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
9 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
10 narrow forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000341
11 malignant hyperthermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002047
12 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
13 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
14 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
15 synophrys 58 31 hallmark (90%) Very frequent (99-80%) HP:0000664
16 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
17 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
18 hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002079
19 underdeveloped supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0009891
20 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
21 congenital stationary night blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007642
22 multifocal cerebral white matter abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0007052
23 congenital hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000851
24 large fleshy ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0002265
25 generalized myoclonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002123
26 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
27 horizontal eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0011228
28 seizures 58 Frequent (79-30%)
29 abnormal facial shape 58 Very frequent (99-80%)
30 abnormality of the pinna 58 Frequent (79-30%)
31 abnormality of brain morphology 58 Very frequent (99-80%)

Drugs & Therapeutics for Intellectual Disability-Obesity-Brain Malformations-Facial...

Search Clinical Trials , NIH Clinical Center for Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome

Genetic Tests for Intellectual Disability-Obesity-Brain Malformations-Facial...

Anatomical Context for Intellectual Disability-Obesity-Brain Malformations-Facial...

MalaCards organs/tissues related to Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome:

40
Brain

Publications for Intellectual Disability-Obesity-Brain Malformations-Facial...

Variations for Intellectual Disability-Obesity-Brain Malformations-Facial...

Expression for Intellectual Disability-Obesity-Brain Malformations-Facial...

Search GEO for disease gene expression data for Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome.

Pathways for Intellectual Disability-Obesity-Brain Malformations-Facial...

GO Terms for Intellectual Disability-Obesity-Brain Malformations-Facial...

Sources for Intellectual Disability-Obesity-Brain Malformations-Facial...

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
Content
Loading form....