Hypogonadotropic hypogonadism 5 with or without anosmia: genes and variants
Hypogonadotropic hypogonadism 5 with or without anosmia is linked to 1 analyzed protein (CHD7). 7 DNA variants are known to cause it; 321 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hypogonadotropic hypogonadism 5 with or without anosmia
CHD7: ATP-dependent chromatin remodeler CHD7
It regulates chromatin accessibility and developmental gene programs across multiple embryonic tissues. Haploinsufficiency is the major cause of CHARGE syndrome, which can affect the eyes, heart, choanae, growth, genital development, ears, and nervous system.
7 disease-causing and 321 uncertain variants in CHD7 are linked to Hypogonadotropic hypogonadism 5 with or without anosmia.
Known disease-causing variants in Hypogonadotropic hypogonadism 5 with or without anosmia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CHD7 C1101R | 1101 | Helicase ATP-binding | Disease-causing (★★) |
| CHD7 R2065C | 2065 | Disease-causing (★★) | |
| CHD7 I1028V | 1028 | Helicase ATP-binding | Disease-causing (★★) |
| CHD7 A2E | 2 | Disease-causing (★) | |
| CHD7 H1801N | 1801 | Disease-causing (★) | |
| CHD7 F2124C | 2124 | Disease-causing (★) | |
| CHD7 L911F | 911 | Chromo 2 | Disease-causing |
Same protein, different disease
- CHARGE syndrome is also caused by CHD7 variants; they fall mostly in different places as the Hypogonadotropic hypogonadism 5 with or without anosmia variants (42 disease-causing).
- CHD7-related CHARGE syndrome is also caused by CHD7 variants; they fall mostly in different places as the Hypogonadotropic hypogonadism 5 with or without anosmia variants (8 disease-causing).
Diseases related to Hypogonadotropic hypogonadism 5 with or without anosmia
- CHARGE syndrome, also linked to CHD7
- Wiedemann-Steiner syndrome, also linked to CHD7
- CHD7-related CHARGE syndrome, also linked to CHD7
- Joubert syndrome, also linked to CHD7
- Hypogonadotropic hypogonadism, also linked to CHD7
Frequently asked questions
Which genes are linked to Hypogonadotropic hypogonadism 5 with or without anosmia?
In CATVariant, Hypogonadotropic hypogonadism 5 with or without anosmia is linked to 1 analyzed protein: CHD7 (ATP-dependent chromatin remodeler CHD7).
How many genetic variants are linked to Hypogonadotropic hypogonadism 5 with or without anosmia?
359 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 321 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hypogonadotropic hypogonadism 5 with or without anosmia look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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