Ichthyosis - hypotrichosis - sclerosing cholangitis

General Information (adopted from Orphanet):

Synonyms, Signs: NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME
ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME
ILVASC
IHSC
nisch syndrome
Number of Symptoms 35
OrphanetNr: 59303
OMIM Id: 607626
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with prominent hair abnormalities
 -Rare genetic disease
 -Rare skin disease
Genetic biliary tract disease
 -Rare genetic disease
Rare biliary tract disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000668) Hypodontia 81 / 7739
2
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
3
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
4
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
5
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
6
 (HPO:0000653) Sparse eyelashes 58 / 7739
7
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
8
 (HPO:0000677) Oligodontia 41 / 7739
9
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
10
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
11
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
12
 (HPO:0000952) Jaundice 105 / 7739
13
 (HPO:0001409) Portal hypertension Occasional [Orphanet] 39 / 7739
14
 (HPO:0000956) Acanthosis nigricans Occasional [Orphanet] 54 / 7739
15
 (HPO:0001006) Hypotrichosis 219 / 7739
16
 (HPO:0001036) Parakeratosis 12 / 7739
17
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
18
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
19
 (HPO:0001596) Alopecia 162 / 7739
20
 (HPO:0000958) Dry skin 152 / 7739
21
 (HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
22
 (OMIM) Short dystrophic, thick hair 1 / 7739
23
 (OMIM) Orthokeratosis 3 / 7739
24
 (OMIM) Papillomatosis 4 / 7739
25
 (OMIM) Granular layer hyperplasia 1 / 7739
26
 (OMIM) Cicatricial frontoparietal alopecia 1 / 7739
27
 (OMIM) Fibrosis without fatty infiltration or ductular proliferation 1 / 7739
28
 (OMIM) Intracytoplasmic vacuoles in eosinophils, neutrophils and lymphocytes 1 / 7739
29
 (HPO:0040162) Orthokeratosis 4 / 7739
30
 (OMIM) Split anchoring plaques of desmosomes in the granular layer (transmission electron microscopy (TEM)) 1 / 7739
31
 (OMIM) Loss of the outer third of the eyebrows 1 / 7739
32
 (HPO:0030151) Cholangitis 10 / 7739
33
 (OMIM) Mild diffuse ichthyosis 1 / 7739
34
 (OMIM) Intracytoplasmic vacuoles in basal keratinocytes (with negative oil red O-staining) 1 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Baala et al. (2002) described a novel autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, sclerosing cholangitis, and leukocyte vacuolization in 4 affected individuals from 2 small inbred Moroccan kindreds. This syndrome shares some similarities with ...
Molecular genetics OMIM Hadj-Rabia et al. (2004) considered the gene encoding claudin-1 to be a strong candidate for neonatal ichthyosis-sclerosing cholangitis syndrome, which they called NISCH syndrome, based on its mapping to the minimum linkage interval for the disorder and on ...