ORPHA:313
Lamellar ichthyosis
Synonyms: LI
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare autosomal recessive congenital ichthyosis characterized by the presence of large scales all over the body without significant erythroderma.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lamellar ichthyosis | LI |
| fr | Ichtyose lamellaire | = en |
| de | Ichthyose, lamelläre | Ichthyose, kongenitale lamelläre · Ichthyose, lamelläre, klassische Form · LI |
| es | Ictiosis lamelar | IL · Ictiosis laminar |
| it | Ittiosi lamellare | = en |
| nl | Lamellaire ichthyosis | = en |
| pt | Ictiose lamelar | = en |
| pl | Rybia łuska blaszkowata | Klasyczna ybia łuska blaszkowata · LI · Wrodzona rybia łuska blaszkowata |
| cs | Lamerální ichtyóza | Klasická lamerální ichtyóza · Vrozená lamelární ichtyóza · LI |
| uk | Пластинчастий іхтіоз | = en |
| zh | 板层状鱼鳞病 | 先天性板层状鳞癣 |
| tr | Lameller iktiyoz | LI · Klasik lameller iktiyoz · Doğumsal lameller iktiyoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146750 | BTNT | validated | |
| OMIM | 242300 | NTBT | validated | |
| OMIM | 601277 | BTNT | validated | |
| OMIM | 604777 | BTNT | validated | |
| OMIM | 606545 | BTNT | validated | |
| OMIM | 612281 | BTNT | validated | |
| OMIM | 613943 | BTNT | validated | |
| OMIM | 617571 | BTNT | validated | |
| OMIM | 617574 | BTNT | validated | |
| ICD-10 | Q80.2 | E | specific | validated |
| ICD-11 | EC20.02 | NTBT | index | validated |
| MONDO | 0017778 | E | validated | |
| MeSH | D017490 | E | validated | |
| UMLS | C5848247 | E | validated | |
| GARD | 10803 | E | validated | |
| MedDRA | 10023686 | 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 (1):
- ORPHA:281097Autosomal recessive congenital ichthyosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders
No children.
4
Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SULT2B1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11459 | ENSG00000088002 | 604125 | 19q13.33 | sulfotransferase family 2B member 1 | 28575648[PMID] |
| ABCA12 | Disease-causing germline mutation(s) in | Assessed | HGNC:14637 | ENSG00000144452 | 607800 | 2q35 | ATP binding cassette subfamily A member 12 | 22739337[PMID]_20301593[PMID] |
| ALOX12B | Disease-causing germline mutation(s) in | Assessed | HGNC:430 | ENSG00000179477 | 603741 | 17p13.1 | arachidonate 12-lipoxygenase, 12R type | 22739337[PMID]_20301593[PMID] |
| ALOXE3 | Disease-causing germline mutation(s) in | Assessed | HGNC:13743 | ENSG00000179148 | 607206 | 17p13.1 | arachidonate epidermal lipoxygenase 3 | 25423909[PMID]_21668430[PMID]_19131948[PMID] |
| ASPRV1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26321 | ENSG00000244617 | 611765 | 2p13.3 | aspartic peptidase retroviral like 1 | 32516568[PMID] |
| CYP4F22 | Disease-causing germline mutation(s) in | Assessed | HGNC:26820 | ENSG00000171954 | 611495 | 19p13.12 | cytochrome P450 family 4 subfamily F member 22 | 22739337[PMID]_20301593[PMID] |
| LIPN | Disease-causing germline mutation(s) in | Assessed | HGNC:23452 | ENSG00000204020 | 613924 | 10q23.31 | lipase family member N | 21439540[PMID] |
| NIPAL4 | Disease-causing germline mutation(s) in | Assessed | HGNC:28018 | ENSG00000172548 | 609383 | 5q33.3 | NIPA like domain containing 4 | 22739337[PMID]_20301593[PMID] |
| SDR9C7 | Disease-causing germline mutation(s) in | Assessed | HGNC:29958 | ENSG00000170426 | 609769 | 12q13.3 | short chain dehydrogenase/reductase family 9C member 7 | 28906551[PMID]_28369735[PMID] |
| TGM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11777 | ENSG00000092295 | 190195 | 14q12 | transglutaminase 1 | 22739337[PMID]_20301593[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | 9887377[PMID]_22000705[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.35 / 100 000 | Spain | Value and class | Validated | 22000705[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.1 / 100 000 | Norway | Value and class | Validated | 9887377[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.
6
HPO phenotypes
42 annotations · validated 2026-06-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0033665 | Diminished health-related quality of life | |
| HP:0000958 | Dry skin | |
| HP:0025813 | Eyebrow scaling skin | |
| HP:0025809 | Generalized scaling | |
| HP:0002046 | Heat intolerance | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000966 | Hypohidrosis | |
| HP:0008064 | Ichthyosis | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0008404 | Nail dystrophy | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0000989 | Pruritus | |
| HP:0031057 | Skin fissure | |
| HP:0030053 | Stiff skin | |
| Frequent (79-30%) | ||
| HP:0011039 | Abnormal helix morphology | |
| HP:0001596 | Alopecia | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0025608 | Cicatricial ectropion | |
| HP:0012472 | Eclabion | |
| HP:0000656 | Ectropion | |
| HP:0030001 | Lagophthalmos | |
| HP:0003121 | Limb joint contracture | |
| HP:0004552 | Scarring alopecia of scalp | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0009775 | Amniotic constriction ring | |
| HP:0000498 | Blepharitis | |
| HP:0007717 | Chronic irritative conjunctivitis | |
| HP:0012804 | Corneal ulceration | |
| HP:0001944 | Dehydration | |
| HP:0001019 | Erythroderma | |
| HP:0012905 | Euryblepharon | |
| HP:0000491 | Keratitis | |
| HP:0011457 | Loss of eyelashes | |
| HP:0012531 | Pain | |
| HP:0025572 | Punctal stenosis | |
| HP:0002719 | Recurrent infections | |
| Very rare (<4-1%) | ||
| HP:0000518 | Cataract | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0100583 | Corneal perforation | |
| HP:0000621 | Entropion | |
| HP:0000563 | Keratoconus | |
| HP:0100806 | Sepsis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 38588653[PMID]_24397709[PMID]_17215621[PMID]_12780701[PMID]_26206273[PMID]_34670609[PMID]_37542530[PMID]_29390542[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/313
- This record as JSON: /data/d/313.json