MCID: STR032
MIFTS: 14

Steroid Dehydrogenase Deficiency Dental Anomalies

Categories: Fetal diseases, Genetic diseases, Liver diseases, Oral diseases, Rare diseases

Aliases & Classifications for Steroid Dehydrogenase Deficiency Dental Anomalies

MalaCards integrated aliases for Steroid Dehydrogenase Deficiency Dental Anomalies:

Name: Steroid Dehydrogenase Deficiency Dental Anomalies 53
Lyngstadaas Syndrome 53 59 72
Severe Dental Aberrations in Familial Steroid Dehydrogenase Deficiency 53
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
steroid dehydrogenase deficiency-dental anomalies syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

ICD10 via Orphanet 34 K76.8
UMLS via Orphanet 73 C2931508
Orphanet 59 ORPHA3196
UMLS 72 C2931508

Summaries for Steroid Dehydrogenase Deficiency Dental Anomalies

MalaCards based summary : Steroid Dehydrogenase Deficiency Dental Anomalies, also known as lyngstadaas syndrome, is related to teeth, supernumerary and liver disease. Affiliated tissues include liver, and related phenotypes are increased number of teeth and hepatic failure

Related Diseases for Steroid Dehydrogenase Deficiency Dental Anomalies

Diseases related to Steroid Dehydrogenase Deficiency Dental Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 teeth, supernumerary 10.1
2 liver disease 10.1

Symptoms & Phenotypes for Steroid Dehydrogenase Deficiency Dental Anomalies

Human phenotypes related to Steroid Dehydrogenase Deficiency Dental Anomalies:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0011069
2 hepatic failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001399
3 hypoplasia of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0006297
4 abnormality of dental enamel 59 Very frequent (99-80%)

Drugs & Therapeutics for Steroid Dehydrogenase Deficiency Dental Anomalies

Search Clinical Trials , NIH Clinical Center for Steroid Dehydrogenase Deficiency Dental Anomalies

Genetic Tests for Steroid Dehydrogenase Deficiency Dental Anomalies

Anatomical Context for Steroid Dehydrogenase Deficiency Dental Anomalies

MalaCards organs/tissues related to Steroid Dehydrogenase Deficiency Dental Anomalies:

41
Liver

Publications for Steroid Dehydrogenase Deficiency Dental Anomalies

Articles related to Steroid Dehydrogenase Deficiency Dental Anomalies:

# Title Authors PMID Year
1
Severe dental aberrations in familial steroid dehydrogenase deficiency: a new association. 38
8832133 1996

Variations for Steroid Dehydrogenase Deficiency Dental Anomalies

Expression for Steroid Dehydrogenase Deficiency Dental Anomalies

Search GEO for disease gene expression data for Steroid Dehydrogenase Deficiency Dental Anomalies.

Pathways for Steroid Dehydrogenase Deficiency Dental Anomalies

GO Terms for Steroid Dehydrogenase Deficiency Dental Anomalies

Sources for Steroid Dehydrogenase Deficiency Dental Anomalies

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
Content
Loading form....