ORPHA:59303
Neonatal ichthyosis-sclerosing cholangitis syndrome
Synonyms: IHSC · Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · NISCH syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal ichthyosis-sclerosing cholangitis syndrome | IHSC · Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · NISCH syndrome |
| fr | Syndrome néonatal d'ichtyose-cholangite sclérosante | IHSC · Syndrome NISCH · Syndrome d'ichtyose-hypotrichose-cholangite sclérosante |
| de | Neonatale Ichthyose-sklerosierende Cholangitis-Syndrom | IHSC · Ichthyosis mit Hypotrichose und sklerosierender Cholangitis · NISCH-Syndrom |
| es | Síndrome neonatal de ictiosis-colangitis esclerosante | IHSC · Síndrome NISCH · Síndrome de ictiosis-hipotricosis-colangitis esclerosante |
| it | Ittiosi - ipotricosi - colangite sclerosante | IHSC · Sindrome NISCH |
| nl | Neonatale ichthyosis - scleroserende cholangitis-syndroom | IHSC · Ichthyosis - hypotrichose - scleroserende cholangitis-syndroom · NISCH-syndroom |
| pt | Síndrome de ictiose neonatal-colangite esclerosante | Síndrome NISCH |
| pl | Noworodkowy zespół rybiej łuski i stwardniającego zapalenia dróg żółciowych | IHSC · Zespół NISCH · Zespół rybiej łuski, hipotrichozy i stwardniającego zapalenia dróg żółciowych |
| cs | Syndrom zahrnující ichtyózu, hypotrichózu a sklerotizující cholangitidu | IHSC · NISCH syndrom |
| uk | Синдром неонатального іхтіозу-склерозуючого холангіту | Синдром іхтіозу-гіпотрихозу-склерозуючого холангіту · IHSC · Синдром NISCH |
| zh | 新生儿鱼鳞病-硬化性胆管炎综合征 | 鱼鳞病-毛发稀少-硬化性胆管炎综合征 |
| tr | Yenidoğan iktiyoz-sklerozan kolanjit sendromu | IHSC · NISCH sendromu · İktiyoz-hipotrikoz-sklerozan kolanjit sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607626 | E | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | DB96.2Y | NTBT | index | validated |
| MONDO | 0011874 | E | validated | |
| MeSH | C564365 | E | validated | |
| UMLS | C1843355 | E | validated | |
| GARD | 10583 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:281222Autosomal ichthyosis syndrome with prominent hair abnormalities
rare genetic diseases; rare skin diseases - ORPHA:156607Genetic biliary tract disease
rare genetic diseases - ORPHA:447771Sclerosing cholangitis
rare hepatic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLDN1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2032 | ENSG00000163347 | 603718 | 3q28 | claudin 1 | 15521008[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 22030598[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22030598[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.
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HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001396 | Cholestasis | |
| HP:0002240 | Hepatomegaly | |
| HP:0008064 | Ichthyosis | |
| HP:0000952 | Jaundice | |
| HP:0004552 | Scarring alopecia of scalp | |
| HP:0002231 | Sparse body hair | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0000668 | Hypodontia | |
| HP:0000677 | Oligodontia | |
| HP:0001409 | Portal hypertension | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/59303
- This record as JSON: /data/d/59303.json