ORPHA:2067
GAPO syndrome
Synonyms: Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GAPO syndrome | Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome |
| fr | Syndrome GAPO | Syndrome de retard de croissance-alopécie-pseudoanodontie-atrophie optique |
| de | GAPO-Syndrom | Wachstumsverzögerung-Alopezie-Pseudoanodontie-Optikusatrophie-Syndrom |
| es | Síndrome GAPO | |
| it | Sindrome GAPO | Ritardo di crescita - alopecia - pseudo-anodontia - atrofia ottica |
| nl | GAPO-syndroom | Groeiachterstand - alopecie - pseudoanodontie - opticusatrofie-syndroom |
| pt | Síndrome GAPO | Síndrome de atraso do crescimento-alopecia-pseudo-anodontia-atrofia óptica |
| pl | Zespół GAPO | Opóźnienie wzrostu - wyłysienia - anodoncja rzekoma - atrofia nerwu wzrokowego |
| cs | GAPO-syndrom | Syndrom zahrnující poruchy růstu, alopecii, pseudoanodoncii a atrofii optiku |
| uk | Синдром GAPO | Синдром затримки росту - алопеції - псевдоанодонтії - атрофія зорового нерва |
| zh | GAPO综合征 | 生长延迟-脱发-埋伏牙-视神经萎缩综合征 |
| tr | GAPO sendromu | Büyüme gecikmesi-alopesi-psödoanodonti-optik atrofi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230740 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009263 | E | validated | |
| MeSH | C535642 | E | validated | |
| UMLS | C0406723 | E | validated | |
| GARD | 400 | 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 (8):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:522564Syndromic genetic keratoconus
rare genetic diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders - ORPHA:98623Syndromic keratoconus
rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANTXR1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21014 | ENSG00000169604 | 606410 | 2p13.3 | ANTXR cell adhesion molecule 1 | 23602711[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 30575274[PMID]_29304326[PMID]_30255493[PMID]_31448094[PMID] | |
| 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.
6
HPO phenotypes
54 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0000463 | Anteverted nares | |
| HP:0000337 | Broad forehead | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002234 | Early balding | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002007 | Frontal bossing | |
| HP:0000348 | High forehead | |
| HP:0000974 | Hyperextensible skin | |
| HP:0000316 | Hypertelorism | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0100540 | Palpebral edema | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0004322 | Short stature | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0009928 | Thick nasal alae | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0000501 | Glaucoma | |
| HP:0000563 | Keratoconus | |
| HP:0000303 | Mandibular prognathia | |
| HP:0010609 | Skin tags | |
| HP:0001537 | Umbilical hernia | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000141 | Amenorrhea | |
| HP:0001555 | Asymmetry of the thorax | |
| HP:0002621 | Atherosclerosis | |
| HP:0000453 | Choanal atresia | |
| HP:0004331 | Decreased skull ossification | |
| HP:0100607 | Dysmenorrhea | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0001028 | Hemangioma | |
| HP:0000135 | Hypogonadism | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0000545 | Myopia | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000639 | Nystagmus | |
| HP:0000798 | Oligozoospermia | |
| HP:0000648 | Optic atrophy | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2067
- This record as JSON: /data/d/2067.json