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 |
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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 |
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glasses
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Medications |
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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); LCL is GM28303. |