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 52
Lyngstadaas Syndrome 52 58 71
Severe Dental Aberrations in Familial Steroid Dehydrogenase Deficiency 52
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
steroid dehydrogenase deficiency-dental anomalies syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare hepatic diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

ICD10 via Orphanet 33 K76.8
UMLS via Orphanet 72 C2931508
Orphanet 58 ORPHA3196
UMLS 71 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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0011069
2 hepatic failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001399
3 hypoplasia of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0006297
4 abnormality of dental enamel 58 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:

40
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. 61
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 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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