ORPHA:88637
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Synonyms: 4H syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
This disease is described under 4H leukodystrophy
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | 4H syndrome |
| fr | Syndrome d'hypomyélinisation-hypogonadisme hypogonadotrope-hypodontie | Syndrome 4H |
| de | Hypomyelinisierung-Hypogonadotroper Hypogonadismus-Hypodontie-Syndrom | |
| es | Síndrome de hipomielinización-hipogonadismo hipogonadotrópico-hipodoncia | Síndrome 4H |
| it | Sindrome ipomielinizzazione-ipogonadismo ipogonadotropo-ipodontia | Sindrome 4H |
| nl | Hypomyelinisatie - hypogonadotroop hypogonadisme - hypodontie-syndroom | 4H-syndroom |
| pt | Síndrome de hipomielinização-hipogonadismo hipogonadotrópico-hipodontia | Síndrome 4H |
| pl | Zespół hipomielinizacji, hipogonadyzmu hipogonadotropowego i hipodoncji | Zespół 4H |
| cs | Syndrom zahrnující hypomyelinizaci, hypogonadotropní hypogonadismus a hypodoncii | 4H syndrom |
| uk | Синдром гіпомієлінізації-гіпогонадотропного гіпогонадизму-гіподонтії | Синдром 4H |
| zh | 髓鞘形成低下-促性腺激素性性腺功能减退症-牙发育不全综合征 | 4H综合征 |
| tr | Hipomiyelinizasyon-hipogonadotropik hipogonadizm-hipodonti sendromu | 4H sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607694 | NTBT | validated | |
| OMIM | 614381 | BTNT | validated | |
| OMIM | 616494 | BTNT | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A44.3 | NTBT | index | validated |
| MeSH | C567313 | E | validated | |
| UMLS | C2676243 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:2894944H leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:85186Endosteal sclerosis-cerebellar hypoplasia syndrome moved to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLR1C | Disease-causing germline mutation(s) in | Assessed | HGNC:20194 | ENSG00000171453 | 610060 | 6p21.1 | RNA polymerase I and III subunit C | 26151409[PMID] |
| POLR3A | Disease-causing germline mutation(s) in | Assessed | HGNC:30074 | ENSG00000148606 | 614258 | 10q22.3 | RNA polymerase III subunit A | 21855841[PMID]_22855961[PMID] |
| POLR3B | Disease-causing germline mutation(s) in | Assessed | HGNC:30348 | ENSG00000013503 | 614366 | 12q23.3 | RNA polymerase III subunit B | 22855961[PMID]_22036172[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29618326[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0003429 | CNS hypomyelination | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000668 | Hypodontia | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88637
- This record as JSON: /data/d/88637.json