MCID: STR032
MIFTS: 12

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 54
Lyngstadaas Syndrome 54 60 74
Severe Dental Aberrations in Familial Steroid Dehydrogenase Deficiency 54
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
steroid dehydrogenase deficiency-dental anomalies syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

ICD10 via Orphanet 35 K76.8
UMLS via Orphanet 75 C2931508
Orphanet 60 ORPHA3196
UMLS 74 C2931508

Summaries for Steroid Dehydrogenase Deficiency Dental Anomalies

MalaCards based summary : Steroid Dehydrogenase Deficiency Dental Anomalies, is also known as lyngstadaas syndrome. Related phenotypes are increased number of teeth and hepatic failure

Related Diseases for Steroid Dehydrogenase Deficiency Dental Anomalies

Symptoms & Phenotypes for Steroid Dehydrogenase Deficiency Dental Anomalies

Human phenotypes related to Steroid Dehydrogenase Deficiency Dental Anomalies:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased number of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0011069
2 hepatic failure 60 33 hallmark (90%) Very frequent (99-80%) HP:0001399
3 hypoplasia of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0006297
4 abnormality of dental enamel 60 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

Publications for Steroid Dehydrogenase Deficiency Dental Anomalies

Articles related to Steroid Dehydrogenase Deficiency Dental Anomalies:

# Title Authors Year
1
Severe dental aberrations in familial steroid dehydrogenase deficiency: a new association. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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