ORPHA:2273
Ichthyosis follicularis-alopecia-photophobia syndrome
Synonyms: IFAP syndrome · Ichthyosis follicularis-atrichia-photophobia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ichthyosis follicularis-alopecia-photophobia syndrome | IFAP syndrome · Ichthyosis follicularis-atrichia-photophobia syndrome |
| fr | Syndrome d'ichtyose folliculaire-alopécie-photophobie | Syndrome IFAP · Syndrome d'ichtyose folliculaire-atrichie-photophobie |
| de | Ichthyosis follicularis-Alopezie-Photophobie-Syndrom | IFAP-Syndrom · Ichthyosis follicularis-Atrichie-Photophobie-Syndrom |
| es | Síndrome de ictiosis folicular-alopecia-fotofobia | Ictiosis folicular-atriquia-fotofobia · Síndrome IFAP |
| it | Ittiosi follicolare - alopecia - fotofobia | Ittiosi follicolare - atrichia - fotofobia · Sindrome IFAP |
| nl | Folliculaire ichthyosis - alopecie - fotofobie-syndroom | IFAP-syndroom · Ichthyosis follicularis - atrichie - fotofobie-syndroom |
| pt | Síndrome ictiose folicular-alopecia-fotofobia | Síndrome IFAP · Síndrome ictiose folicular-atriquia-fotofobia |
| pl | Rybia łuska mieszkowa - łysienie - światłowstręt | Rybia łuska mieszkowa - atrichia - światłowstręt · Zespół IFAP |
| cs | Syndrom zahrnující folikulární ichtyózu, alopecii a fotofobii | IFAP syndrom · Sydrom zahrnující folikulární ichtyózu, plešatost a fotofobii |
| uk | Синдром фолікулярного іхтіозу-алопеції-світлобоязні | Синдром фолікулярного іхтіозу-атрихії-світлобоязні · Синдром IFAP |
| zh | 毛囊性鱼鳞病-脱发-畏光综合症 | 毛囊性鱼鳞病-脱发-畏光综合症 |
| tr | İktiyoz follicularis-alopesi-fotofobi sendromu | IFAP sendromu · İktiyoz folikülaris-atrişi-fotofobi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308205 | BTNT | validated | |
| OMIM | 619016 | BTNT | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | LD27.2 | NTBT | index | validated |
| MONDO | 0100213 | E | validated | |
| MONDO | 100212 | E | validated | |
| MONDO | 100213 | E | validated | |
| MeSH | C536085 | E | validated | |
| UMLS | C1839988 | E | validated | |
| GARD | 2952 | 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 (4):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:481771Genetic alopecia
rare genetic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:281210X-linked ichthyosis syndrome
rare genetic diseases; rare skin diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MBTPS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15455 | ENSG00000012174 | 300294 | Xp22.12 | membrane bound transcription factor peptidase, site 2 | 21600032[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 21600032[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
78 annotations · validated 2017-07-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001595 | Abnormality of the hair | |
| HP:0001596 | Alopecia | |
| HP:0008064 | Ichthyosis | |
| HP:0001249 | Intellectual disability | |
| HP:0200034 | Papule | |
| HP:0000613 | Photophobia | |
| HP:0001250 | Seizure | |
| HP:0008070 | Sparse hair | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0000614 | Abnormal nasolacrimal system morphology | |
| HP:0004370 | Abnormality of temperature regulation | |
| HP:0002223 | Absent eyebrow | |
| HP:0200020 | Corneal erosion | |
| HP:0000726 | Dementia | |
| HP:0002376 | Developmental regression | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0010783 | Erythema | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0002046 | Heat intolerance | |
| HP:0001812 | Hyperconvex fingernails | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000966 | Hypohidrosis | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0002721 | Immunodeficiency | |
| HP:0001268 | Mental deterioration | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0002719 | Recurrent infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0045074 | Thin eyebrow | |
| HP:0012742 | Thin fingernail | |
| Occasional (29-5%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0040163 | Abnormal pelvis bone morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0001331 | Absent septum pellucidum | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000483 | Astigmatism | |
| HP:0000498 | Blepharitis | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100308 | Cerebral cortical hemiatrophy | |
| HP:0100825 | Cheilitis | |
| HP:0000453 | Choanal atresia | |
| HP:0000509 | Conjunctivitis | |
| HP:0007957 | Corneal opacity | |
| HP:0000028 | Cryptorchidism | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0100257 | Ectrodactyly | |
| HP:0100534 | Episcleritis | |
| HP:0002007 | Frontal bossing | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0001252 | Hypotonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0000491 | Keratitis | |
| HP:0002808 | Kyphosis | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0012165 | Oligodactyly | |
| HP:0001539 | Omphalocele | |
| HP:0000926 | Platyspondyly | |
| HP:0100532 | Scleritis | |
| HP:0003510 | Severe short stature | |
| HP:0012157 | Subcortical cerebral atrophy | |
| HP:0001025 | Urticaria | |
| HP:0000554 | Uveitis | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2273
- This record as JSON: /data/d/2273.json