Ichthyosis-hypotrichosis syndrome
Synonyms: Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome · IHS · Ichthyosis-follicular atrophoderma-hypotrichosis syndrome · Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the <i>ST14</i> gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ichthyosis-hypotrichosis syndrome | Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome · IHS · Ichthyosis-follicular atrophoderma-hypotrichosis syndrome · Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome |
| fr | Syndrome d'ichtyose-hypotrichose | IHS · Syndrome IFAH · Syndrome d'hypotrichose-ichtyose congénitale · Syndrome d'ichtyose-atrophodermie folliculaire-hypotrichose · Syndrome d'ichtyose-atrophodermie folliculaire-hypotrichose-hypohidrose |
| de | Ichthyose-Hypotrichose-Syndrom | Hypotrichose - Ichthyose, kongenital · Hypotrichose-kongenitale Ichthyose-Syndrom · IFAH-Syndrom · IHS · Ichthyose-follikuläre Atrophodermie-Hypotrichose-Syndrom |
| es | Síndrome hipotricosis e ictiosis | IHS · Síndrome IFAH · Síndrome de hipotricosis-ictiosis congénita · Síndrome de ictiosis-atrofodermia folicular-hipotricosis · Síndrome de ictiosis-atrofodermia folicular-hipotricosis-hipohidrosis |
| it | Sindrome ittiosi-ipotricosi | IHS · Ipotricosi - ittiosi congenita · Sindrome IFAH · Sindrome ipotricosi-ittiosi congenita · Sindrome ittiosi-atrofoderma follicolare-ipotricosi · Sindrome ittiosi-atrofoderma follicolare-ipotricosi-ipoidrosi |
| nl | Ichthyosis - hypotrichose-syndroom | Hypotrichose - congenitale ichthyosis-syndroom · IFAH-syndroom · IHS · Ichthyosis - folliculaire atrofodermie - hypotrichose - hypohidrose-syndroom · Ichthyosis - folliculaire atrofodermie - hypotrichose-syndroom |
| pt | Síndrome de ictiose-hipotricose | Síndrome de ictiose-atrofoderma folicular-hipotricose-hipohidrose · IHS · Síndrome IFAH · Síndrome de hipotricose-ictiose congénita · Síndrome de ictiose-atrofoderma folicular-hipotricose |
| pl | Zespół rybiej łuski i hipotrichozy | IHS · Zespół hipotrichozy i rybiej łuski wrodzonej · Zespół IFAH · Zespół rybiej łuski, atrofodermii mieszkowej i hipotrichozy · Zespół rybiej łuski, atrofodermii mieszkowej, hipotrichozy i hipohydrozy |
| cs | Ichtyóza s hypotrichózou | Syndrom zahrnující hypotrichózu a vrozenou ichtyózu · IFAH syndrom · IHS · Syndrom zahrnující ichtyózu, folikulární atrofodermii a hypotrichózu · Syndrom zahrnující ichtyózu, folikulární atrofodermii, hypotrichózu a hypohidrózu |
| uk | Синдром іхтіозу-гіпотрихозу | Синдром гіпотрихозу - вродженого іхтіозу · Синдром іхтіозу-фолікулярної атрофодермії-гіпотрихозу · Синдром іхтіозу-фолікулярної атрофодермії-гіпотрихозу-гіпогідрозу · Синдром IFAH · IHS |
| zh | 鱼鳞病-毛发稀少综合征 | 鱼鳞病-毛囊性皮肤萎缩-毛发稀少症-少汗症综合征 |
| tr | İktiyoz-hipotrikoz sendromu | IHS · IFAH sendromu · Hipotrikoz-doğumsal iktiyoz sendromu · İktiyoz-foliküler atrofoderma-hipotrikoz sendromu · İktiyoz-foliküler atrofoderma-hipotrikoz-hipohidroz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602400 | E | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | LD27.2 | NTBT | index | validated |
| MONDO | 0011218 | E | validated | |
| UMLS | C4510566 | E | validated | |
| GARD | 10116 | 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:79364Alopecia
rare skin diseases - ORPHA:281222Autosomal ichthyosis syndrome with prominent hair abnormalities
rare genetic diseases; rare skin diseases - ORPHA:481771Genetic alopecia
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ST14 | Disease-causing germline mutation(s) in | Assessed | HGNC:11344 | ENSG00000149418 | 606797 | 11q24.3 | ST14 transmembrane serine protease matriptase | 17273967[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 26596219[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26596219[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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008064 | Ichthyosis | |
| HP:0008070 | Sparse hair | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91132
- This record as JSON: /data/d/91132.json