Pontocerebellar hypoplasia type 7
Synonyms: PCH7 · Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 7 | PCH7 · Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome |
| fr | Hypoplasie pontocérébelleuse type 7 | HPC7 · PCH7 · Syndrome d'hypoplasie pontocérébelleuse-anomalie du développement sexuel 46,XY |
| de | Pontozerebelläre Hypoplasie Typ 7 | PCH7 · Pontozerebelläre Hypoplasie - Störung der Geschlechtsentwicklung 46,XY |
| es | Hipoplasia pontocerebelosa tipo 7 | HPC7 · Hipoplasia pontocerebelosa-trastorno del desarrollo sexual 46,XY |
| it | Ipoplasia pontocerebellare, tipo 7 | Ipoplasia pontocerebellare - disturbo dello sviluppo sessuale 46,XY · PCH7 |
| nl | Pontocerebellaire hypoplasie type 7 | PCH7 · Pontocerebellaire hypoplasie - 46,XY-geslachtsontwikkelingsstoornis-syndroom |
| pt | Hipoplasia pontocerebelosa tipo 7 | |
| pl | Hipoplazja mostowo-móżdżkowa typu 7 | Hipoplazja mostowo-móżdżkowa-zaburzenie różnicowania płci o kariotypie 46,XY · PCH7 |
| cs | Pontocerebelární hypoplázie, typ 7 | PCH7 · Syndrom zahrnující pontocerebelární hypoplázii a 46,XY poruchu sexuálního vývoje |
| uk | Гіпоплазія мозочка, тип 7 | PCH7 · Понтоцеребелярна гіпоплазія-46,XY синдром порушення статевого розвитку |
| zh | 桥小脑发育不全7型 | 桥小脑发育不良-46，XY-性发育障碍综合征 |
| tr | Pontoserebellar hipoplazi tip 7 | PCH7 · Pontoserebellar hipoplazi-46, XY cinsiyet gelişim bozukluğu sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614969 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0013993 | E | validated | |
| UMLS | C3554226 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98523Pontocerebellar hypoplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TOE1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15954 | ENSG00000132773 | 613931 | 1p34.1 | target of EGR1, exonuclease | 28092684[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 21594990[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
37 annotations · validated 2019-07-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002060 | Abnormal cerebral morphology | |
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0002380 | Fasciculations | |
| HP:0030197 | Fatigable weakness of skeletal muscles | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0001276 | Hypertonia | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0006955 | Olivopontocerebellar hypoplasia | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0000215 | Thick upper lip vermilion | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0012856 | Abnormal scrotal rugation | |
| HP:0030261 | Absent penis | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000133 | Gonadal dysgenesis | |
| HP:0001347 | Hyperreflexia | |
| HP:0004305 | Involuntary movements | |
| HP:0000054 | Micropenis | |
| HP:0030260 | Microphallus | |
| HP:0001336 | Myoclonus | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0000582 | Upslanted palpebral fissure | |
Annotation source: 21594990[PMID]_11068172[PMID]_23686794[PMID]_28092684[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284339
- This record as JSON: /data/d/284339.json