Lamellar ichthyosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LI Congenital lamellar ichthyosis Classic lamellar ichthyosis |
| Number of Symptoms | 24 |
| OrphanetNr: | 313 |
| OMIM Id: |
146750
242300 601277 604777 612281 613943 |
| ICD-10: |
Q80.2 |
| UMLs: |
|
| MeSH: |
D017490 |
| MedDRA: |
10023686 |
| Snomed: |
205550003 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive congenital ichthyosis
-Rare genetic disease -Rare skin disease Ichthyosis associated with ocular features -Rare eye disease -Rare genetic disease Secondary ectropion -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000083) | Renal insufficiency | Occasional [Orphanet] | 232 / 7739 | |||
|
|
(HPO:0000232) | Everted lower lip vermilion | Frequent [Orphanet] | 90 / 7739 | |||
|
|
(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
|
|
(HPO:0000164) | Abnormality of the teeth | Occasional [Orphanet] | 291 / 7739 | |||
|
|
(HPO:0000492) | Abnormality of the eyelid | Very frequent [Orphanet] | 41 / 7739 | |||
|
|
(HPO:0000389) | Chronic otitis media | Occasional [Orphanet] | 64 / 7739 | |||
|
|
(HPO:0011039) | Abnormality of the helix | Frequent [Orphanet] | 33 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0100679) | Lack of skin elasticity | Very frequent [Orphanet] | 29 / 7739 | |||
|
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(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 | |||
|
|
(HPO:0000989) | Pruritus | Very frequent [Orphanet] | 111 / 7739 | |||
|
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(HPO:0007479) | Congenital nonbullous ichthyosiform erythroderma | 13 / 7739 | ||||
|
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
|
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(HPO:0000958) | Dry skin | Very frequent [Orphanet] | 152 / 7739 | |||
|
|
(HPO:0001597) | Abnormality of the nail | Very frequent [Orphanet] | 115 / 7739 | |||
|
|
(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
|
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(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
|
|
(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
|
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(HPO:0100758) | Gangrene | Occasional [Orphanet] | 25 / 7739 | |||
|
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(HPO:0001944) | Dehydration | Occasional [Orphanet] | 59 / 7739 | |||
|
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(HPO:0002205) | Recurrent respiratory infections | Occasional [Orphanet] | 254 / 7739 | |||
|
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(HPO:0100806) | Sepsis | Occasional [Orphanet] | 48 / 7739 | |||
|
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|