Disease #00148 (HS (Histiocytosis Lymphadenopathy Plus Syndrome), OMIM:602782)

Official abbreviation HS
Name Histiocytosis Lymphadenopathy Plus Syndrome
OMIM ID 602782
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

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00000764 Dyoi-E Low et al.(2019) M Malaysia Indian - - - HS progressive hyperpigmentated macules on his inner thighs since 9 years old. The macules slowly coalesced and extended to the knees, abdomen, neck, and axillae. Significant hair growth was noted on the hyperpigmented patches. Hyperpigmented patches distributed over the lower abdomen, gluteal region, thighs and legs, distal forearms, and inner arms. Lesions over the thighs were indurated with hypertrichosis. Gynecomastia were noted. His penis length was below the fifth percentile, and testicle volume was below the third centile. SLC29A3 SLC29A3 1 1 Nur Aisyah Athirah
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