ORPHA:3322
Hoyeraal-Hreidarsson syndrome
Synonyms: Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hoyeraal-Hreidarsson syndrome | Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome |
| fr | Syndrome de Hoyeraal-Hreidarsson | Syndrome de pancytopénie progressive-déficit immunitaire-hypoplasie cérébelleuse |
| de | Hoyeraal-Hreidarsson-Syndrom | Panzytopenie, progressive - Immundefekt - Kleinhirnhypoplasie |
| es | Síndrome de Hoyeraal-Hreidarsson | Pancitopenia progresiva-inmunodeficiencia-hipoplasia cerebelosa |
| it | Sindrome di Hoyeraal-Hreidarsson | Pancitopenia progressiva - immunodeficienza - ipoplasia cerebellare |
| nl | Syndroom van Hoyeraal-Hreidarsson | Progressieve pancytopenie - immuundeficiëntie - cerebellaire hypoplasie-syndroom |
| pt | Síndrome Hoyeraal-Hreidarsson | Síndrome de pancitopenia-imunodeficiência-hipoplasia cerebelosa |
| pl | Zespół Hoyeraala i Hreidarssona | Postępująca pancytopenia - Niedobór odporności - hipoplazja móżdżku |
| cs | Hoyeraalův-Hreidarssonův syndrom | Syndrom zahrnující progresivní pancytopenii, imunodeficienci a mozečkovou hypoplázii · Hoyeraal-Hreidarssonův syndrom |
| uk | Синдром Хойерала-Грейдарссона | Синдром прогресуючої панцитопенії-імунодефіциту-гіпоплазії мозочка |
| zh | Hoyeraal-Hriedarsson综合征 | 进行性全血细胞减少-免疫缺陷-小脑发育不全综合征 |
| tr | Hoyeraal-Hreidarsson sendromu | ilerleyici pansitopeni-immün yetmezlik-serebellar hipoplazi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 305000 | NTBT | validated | |
| OMIM | 613990 | BTNT | validated | |
| OMIM | 614742 | BTNT | validated | |
| OMIM | 614743 | BTNT | validated | |
| OMIM | 615190 | BTNT | validated | |
| OMIM | 616353 | BTNT | validated | |
| OMIM | 616553 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | 3A70.0 | NTBT | index | validated |
| MONDO | 0018045 | E | validated | |
| MeSH | C536068 | E | validated | |
| UMLS | C1846142 | E | validated | |
| GARD | 346 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:728475Inherited bone marrow failure disorder with immune defect
rare genetic diseases; rare immunological diseases - ORPHA:68383Rare constitutional aplastic anemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders - ORPHA:717877Rare miscellaneous disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACD | Disease-causing germline mutation(s) in | Assessed | HGNC:25070 | ENSG00000102977 | 609377 | 16q22.1 | ACD shelterin complex subunit and telomerase recruitment factor | 25233904[PMID] |
| DKC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2890 | ENSG00000130826 | 300126 | Xq28 | dyskerin pseudouridine synthase 1 | 33734615[PMID] |
| PARN | Disease-causing germline mutation(s) in | Assessed | HGNC:8609 | ENSG00000140694 | 604212 | 16p13.12 | poly(A)-specific ribonuclease | 25893599[PMID] |
| RTEL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15888 | ENSG00000258366 | 608833 | 20q13.33 | regulator of telomere elongation helicase 1 | 23329068[PMID]_23453664[PMID] |
| TERC | Disease-causing germline mutation(s) in | Assessed | HGNC:11727 | ENSG00000270141 | 602322 | 3q26.2 | telomerase RNA component | 37037617[PMID] |
| TERT | Disease-causing germline mutation(s) in | Assessed | HGNC:11730 | ENSG00000164362 | 187270 | 5p15.33 | telomerase reverse transcriptase | 17785587[PMID]_23335200[PMID] |
| TINF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11824 | ENSG00000092330 | 604319 | 14q12 | TERF1 interacting nuclear factor 2 | 22078571[PMID]_21199492[PMID]_18669893[PMID]_20301779[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 23453664[PMID]_23453664[PMID]_23329068[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.
6
HPO phenotypes
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0004334 | Dermal atrophy | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0002721 | Immunodeficiency | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0001903 | Anemia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0011358 | Generalized hypopigmentation of hair | |
| HP:0001276 | Hypertonia | |
| HP:0008404 | Nail dystrophy | |
| HP:0002745 | Oral leukoplakia | |
| HP:0002216 | Premature graying of hair | |
| HP:0002209 | Sparse scalp hair | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001881 | Abnormal leukocyte morphology | |
| HP:0001251 | Ataxia | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0002514 | Cerebral calcification | |
| HP:0001265 | Hyporeflexia | |
| HP:0002664 | Neoplasm | |
Run the differential on the 10 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3322
- This record as JSON: /data/d/3322.json