MCID: IST006
MIFTS: 22

Isotretinoin Syndrome

Categories: Cancer diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isotretinoin Syndrome

MalaCards integrated aliases for Isotretinoin Syndrome:

Name: Isotretinoin Syndrome 58
Isotretinoin Embryopathy Like Syndrome 71
Retinoic Acid Embryopathy 58
Isotretinoin Embryopathy 58
Retinoids Embryopathy 58
Accutane Embryopathy 71

Characteristics:

Orphanet epidemiological data:

58
isotretinoin syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Teratologic disorders


External Ids:

ICD10 via Orphanet 33 Q86.8
UMLS via Orphanet 72 C0432364 C2930972
Orphanet 58 ORPHA2305
UMLS 71 C0432364 C2930972

Summaries for Isotretinoin Syndrome

MalaCards based summary : Isotretinoin Syndrome, also known as isotretinoin embryopathy like syndrome, is related to isotretinoin embryopathy-like syndrome and microtia-anotia. Affiliated tissues include skin, bone and heart, and related phenotypes are muscular hypotonia and microtia

Wikipedia : 74 Isotretinoin, also known as 13-cis-retinoic acid and sold under the brand name Accutane among others, is... more...

Related Diseases for Isotretinoin Syndrome

Diseases related to Isotretinoin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 isotretinoin embryopathy-like syndrome 12.9
2 microtia-anotia 11.8
3 fetal retinoid syndrome 11.7
4 acitretin/etretinate embryopathy 11.5
5 microtia 10.3
6 neurofibromatosis, type ii 10.2
7 digeorge syndrome 10.2
8 hydrocephalus 10.0
9 heart disease 10.0
10 neuroblastoma 10.0
11 cleft palate, isolated 10.0
12 velocardiofacial syndrome 10.0
13 charge syndrome 10.0
14 ventricular septal defect 10.0
15 branchial arch defects 10.0
16 central nervous system malformation 10.0
17 treacher collins syndrome 1 9.7

Graphical network of the top 20 diseases related to Isotretinoin Syndrome:



Diseases related to Isotretinoin Syndrome

Symptoms & Phenotypes for Isotretinoin Syndrome

Human phenotypes related to Isotretinoin Syndrome:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
3 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
4 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
5 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
6 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
7 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
8 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
9 hypoplastic toenails 58 31 frequent (33%) Frequent (79-30%) HP:0001800
10 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
11 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
12 abnormality of the outer ear 58 Very frequent (99-80%)

Drugs & Therapeutics for Isotretinoin Syndrome

Search Clinical Trials , NIH Clinical Center for Isotretinoin Syndrome

Genetic Tests for Isotretinoin Syndrome

Anatomical Context for Isotretinoin Syndrome

MalaCards organs/tissues related to Isotretinoin Syndrome:

40
Skin, Bone, Heart

Publications for Isotretinoin Syndrome

Articles related to Isotretinoin Syndrome:

# Title Authors PMID Year
1
Multiple temporal bone anomalies in isotretinoin syndrome: a temporal bone histopathologic case report. 61
10604421 1999
2
A phenocopy of the isotretinoin syndrome? 61
3422789 1988
3
Multiple congenital anomalies associated with apparently normal maternal intake of vitamin A: a phenocopy of the isotretinoin syndrome? 61
3474898 1987

Variations for Isotretinoin Syndrome

Cosmic variations for Isotretinoin Syndrome:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM122271559 skin,forearm,carcinoma,squamous cell carcinoma c.347G>A p.R116Q 17:7674220-7674220 4

Expression for Isotretinoin Syndrome

Search GEO for disease gene expression data for Isotretinoin Syndrome.

Pathways for Isotretinoin Syndrome

GO Terms for Isotretinoin Syndrome

Sources for Isotretinoin Syndrome

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....