KID syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Senter syndrome Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness KID/HID syndrome |
| Number of Symptoms | 62 |
| OrphanetNr: | 477 |
| OMIM Id: |
148210
242150 602540 |
| ICD-10: |
Q80.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 100 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
-Rare genetic disease -Rare skin disease Autosomal ichthyosis syndrome with other associated signs -Rare genetic disease -Rare skin disease Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -Rare genetic disease -Rare skin disease Ectodermal dysplasia syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease Syndromic ichthyosis associated with ocular features -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
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(HPO:0001128) | Trichiasis | 4 / 7739 | ||||
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(HPO:0000670) | Carious teeth | Occasional [Orphanet] | 145 / 7739 | |||
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(HPO:0002745) | Oral leukoplakia | 17 / 7739 | ||||
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(HPO:0200102) | Sparse or absent eyelashes | Very frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0000221) | Furrowed tongue | Frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0000684) | Delayed eruption of teeth | Occasional [Orphanet] | 117 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Occasional [Orphanet] | 291 / 7739 | |||
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(HPO:0000653) | Sparse eyelashes | 58 / 7739 | ||||
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(HPO:0011830) | Abnormality of oral mucosa | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0004426) | Abnormality of the cheek | Occasional [Orphanet] | 3 / 7739 | |||
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(HPO:0000163) | Abnormality of the oral cavity | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0001097) | Keratoconjunctivitis sicca | 25 / 7739 | ||||
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(HPO:0100533) | Inflammatory abnormality of the eye | Very frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Occasional [Orphanet] | 124 / 7739 | |||
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(HPO:0000559) | Corneal scarring | 9 / 7739 | ||||
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(HPO:0000505) | Visual impairment | Very frequent [Orphanet] | 297 / 7739 | |||
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(HPO:0000613) | Photophobia | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0011492) | Abnormality of corneal stroma | 1 / 7739 | ||||
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(HPO:0000495) | Recurrent corneal erosions | 20 / 7739 | ||||
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(HPO:0000618) | Blindness | 124 / 7739 | ||||
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Occasional [Orphanet] | 158 / 7739 | |||
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(HPO:0002251) | Aganglionic megacolon | Occasional [Orphanet] | 78 / 7739 | |||
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(HPO:0001315) | Reduced tendon reflexes | Occasional [Orphanet] | 160 / 7739 | |||
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(HPO:0002797) | Osteolysis | Very frequent [Orphanet] | 68 / 7739 | |||
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(HPO:0002987) | Elbow flexion contracture | 64 / 7739 | ||||
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(HPO:0006380) | Knee flexion contracture | 56 / 7739 | ||||
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(HPO:0002750) | Delayed skeletal maturation | Occasional [Orphanet] | 250 / 7739 | |||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0100769) | Synovitis | Occasional [Orphanet] | 86 / 7739 | |||
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(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 | |||
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(HPO:0001800) | Hypoplastic toenails | Frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Very frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0001805) | Thick nail | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0002225) | Sparse pubic hair | Frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0000966) | Hypohidrosis | 41 / 7739 | ||||
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(HPO:0002860) | Squamous cell carcinoma | 18 / 7739 | ||||
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(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0005406) | Recurrent bacterial skin infections | 7 / 7739 | ||||
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(HPO:0002164) | Nail dysplasia | 82 / 7739 | ||||
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(HPO:0001231) | Abnormality of the fingernails | Frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0001025) | Urticaria | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0001072) | Thickened skin | Occasional [Orphanet] | 87 / 7739 | |||
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(HPO:0002213) | Fine hair | Frequent [Orphanet] | 77 / 7739 | |||
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(HPO:0008404) | Nail dystrophy | 89 / 7739 | ||||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Occasional [Orphanet] | 84 / 7739 | |||
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(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0004370) | Abnormality of temperature regulation | Frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0002664) | Neoplasm | Occasional [Orphanet] | 111 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 | |||
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(MedDRA:10025421) | Macule | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0012804) | Corneal ulceration | 6 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Occasional [Orphanet] | 137 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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