ANE syndrome
Synonyms: Alopecia-progressive neurological defect-endocrinopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ANE syndrome | Alopecia-progressive neurological defect-endocrinopathy syndrome |
| fr | Syndrome ANE | Syndrome d'alopécie-trouble neurologique progressif-endocrinopathie |
| de | ANE-Syndrom | Alopezie-progressiver neurologischer Defekt-Endokrinopathie-Syndrom |
| es | Síndrome ANE | Síndrome de alopecia-defecto neurológico progresivo-endocrinopatía |
| it | Sindrome ANE | Sindrome alopecia-difetto neurologico progressivo-endocrinopatia |
| nl | ANE-syndroom | Alopecie - progressief neurologisch defect - endocrinopathie-syndroom |
| pt | Síndrome ANE | |
| pl | Zespół ANE | Zespół łysienia, postępującego defektu neurologicznego i endokrynopatii |
| cs | ANE syndrom | Syndrom zahrnující alopecii, progresivní neurologický deficit a endokrinopatii |
| uk | Синдром гострої ниркової недостатності | Синдром алопеції-прогресуючого неврологічного дефекту-ендокринопатії |
| zh | ANE综合征 | 脱发症-进行性神经缺陷-内分泌病综合征 |
| tr | ANE sendromu | Alopesi ilerleyici nörolojik defekt-endokrinopati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612079 | E | validated | |
| ICD-10 | E23.0 | NTBT | attributed | validated |
| MONDO | 0012794 | E | validated | |
| MeSH | C567425 | E | validated | |
| UMLS | C2677535 | 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 (5):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:95495Disease associated with non-acquired combined pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases - ORPHA:481771Genetic alopecia
rare genetic 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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RBM28 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21863 | ENSG00000106344 | 612074 | 7q32.1 | RNA binding motif protein 28 | 18439547[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 18439547[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18439547[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.
HPO phenotypes
28 annotations · validated 2019-05-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0031074 | Abnormal response to ACTH stimulation test | |
| HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | |
| HP:0001596 | Alopecia | |
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0000670 | Carious teeth | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000771 | Gynecomastia | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0007481 | Hyperpigmented nevi | |
| HP:0000668 | Hypodontia | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0001249 | Intellectual disability | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0100578 | Lipoatrophy | |
| HP:0000252 | Microcephaly | |
| HP:0002333 | Motor deterioration | |
| HP:0007373 | Motor neuron atrophy | |
| HP:0002828 | Multiple joint contractures | |
| HP:0006480 | Premature loss of teeth | |
| HP:0004322 | Short stature | |
| HP:0009487 | Ulnar deviation of the hand | |
| Occasional (29-5%) | ||
| HP:0003700 | Generalized amyotrophy | |
| HP:0008245 | Pituitary hypothyroidism | |
| HP:0008202 | Reduced circulating prolactin concentration | |
Annotation source: 20231366[PMID]_18439547[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157954
- This record as JSON: /data/d/157954.json