Human Gene Module / Chromosome 1 / HSD11B1

HSD11B1hydroxysteroid (11-beta) dehydrogenase 1

Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
1 / 8
Rare Variants / Common Variants
0 / 1
HSD11B1, HDL,  11-DH,  HSD11,  HSD11B,  HSD11L,  SDR26C1,  MGC13539,  11-beta-HSD1,  HSD11B1
Associated Syndromes
Genetic Category
Chromosome Band
Associated Disorders
Relevance to Autism

Genetic association has been found between the HSD11B1 gene and both autism and Asperger syndrome (Chakrabarti et al., 2009).

Molecular Function

The encoded protein is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. It can also catalyze the reverse reaction, the conversion of cortisone to cortisol.

Reports related to HSD11B1 (8 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited A transgenic model of visceral obesity and the metabolic syndrome Masuzaki H , et al. (2001) No -
2 Highly Cited Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency Draper N , et al. (2003) No -
3 Recent Recommendation Relationship between hepatic phenotype and changes in gene expression in cytochrome P450 reductase (POR) null mice Wang XJ , et al. (2005) No -
4 Recent Recommendation Prenatal stress and neurodevelopment of the child: focus on the HPA axis and role of the placenta O'Donnell K , et al. (2009) No -
5 Primary Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome Chakrabarti B , et al. (2009) Yes Asperger syndrome
6 Recent Recommendation HSD11B1 polymorphisms predicted bone mineral density and fracture risk in postmenopausal women without a clinically apparent hypercortisolemia Hwang JY , et al. (2009) No -
7 Recent Recommendation Overexpression of 11beta-hydroxysteroid dehydrogenase type 1 in hepatic and visceral adipose tissue is associated with metabolic disorders in morbidly obese patients Baudrand R , et al. (2009) No -
8 Highly Cited Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase Mune T , et al. (1995) No -
Rare Variants  

No rare variants reported.

Common Variants   (1)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
- - intergenic_variant - - - 19598235 Chakrabarti B , et al. (2009)
SFARI Gene score

Suggestive Evidence

There is a single report of an unreplicated association of a common SNP (Chakrabarti et al., 2009; PMID: 19598235).

Score Delta: Score remained at 4


Suggestive Evidence

See all Category 3 Genes

The literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.


Decreased from 4 to 3

New Scoring Scheme

There is a single report of an unreplicated association of a common SNP (Chakrabarti et al., 2009; PMID: 19598235).

Reports Added
[New Scoring Scheme]
No data

Increased from No data to 4


There is a single report of an unreplicated association of a common SNP (Chakrabarti et al., 2009; PMID: 19598235).

No data

Increased from No data to 4


There is a single report of an unreplicated association of a common SNP (Chakrabarti et al., 2009; PMID: 19598235).

Krishnan Probability Score

Score 0.49412929774428

Ranking 3814/25841 scored genes

[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at
ExAC Score

Score 0.69155525068005

Ranking 4517/18225 scored genes

[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: aned_exac_nonTCGA_z_pli_rec_null_data.txt
Sanders TADA Score

Score 0.85370457671086

Ranking 3598/18665 scored genes

[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see
Larsen Cumulative Evidence Score

Score 0

Ranking 449/461 scored genes

[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Zhang D Score

Score -0.30001893724567

Ranking 17207/20870 scored genes

[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 Human Protein Binding 3290 P28845
IL1B interleukin 1, beta Human Direct Regulation 3553 P01584
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 Human Direct Regulation 5054 P05121
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