| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
9 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
2 |
| Age at Diagnosis(If not a control) |
3 |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
NETHERLANDS |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
NOD2, C.1148A>G (P.GIU383GIY), EXON 4 |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 YEARS |
| Age at Diagnosis: |
3 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Uncategorized Symptoms: |
EARLY ONSET SARCOIDOSIS: SCATTERED EPITHELIAL CELL GRANULOMAS; LYMPHOCYTIC INFLAMMATORY INFILTRATE; COLLAGEN NECROBIOSIS NOT SEEN; SKIN ABNORMALITIES AIS SINGLE MANIFESTATION |
| Testing Performed |
| Respiratory and Cardiovascular Testing: |
NORMAL EKG AND ECHO |
| Uncategorized Testing: |
SKIN BIOPSY |
| Treatments and Assistive Devices |
| |
glasses
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| Medications |
| |
METHOTREXATE 10MG/WEEK; FOLIUMZUUR 5MG/WEEK |
| Family History |
| Remarks |
Clinically affected. Skin abnormalities as the single manifestation. No ling involvement nor uveitis. De novo mutation in the NOD2 gene c.1148A>G (p.Glu383Gly). See "Phenotypic Data" tab. Unaffected parents: mother is GM28305 (LCL) and GM28306 (fibro); father is GM28307(LCL) and GM28308 (fibro); fibro is GM28304. |