Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two brothers in a Chinese family with selective malabsorption of vitamin B12 associated with proteinuria (Imerslund-Grasbeck syndrome) presented with widespread mottled skin pigmentation, termed poikiloderma. In contrast to anaemia, this pigmentary disturbance remained unresponsive to vitamin B12 replacement. This is different from the reported hyperpigmentation sometimes seen in vitamin B12 deficiency which is reversible following treatment. As far as is known, an irreversible and persistent skin disorder has not been reported in this syndrome before.
 ...
PMID:Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. 796 12

A 19-year old caucasian patient suffered from ulceration and scaring of his fingers since age two. During childhood, fibrosing contractures on the phalanges developed. Since puberty, his eunuch-like stature, bird-like face and exophthalmos had become under obvious. His hair was extraordinarily fine; his pubic hair rare. Radiological examination revealed ankylosis and osteoporosis of the phalanges and carpals. Angiography showed occlusion of multiple digital and interdigital arteries. Furthermore, a bilateral posterior cataract, restrictive respiratory disease, impaired glucose tolerance, hyperuricemia, proteinuria and primary hypogonadism were diagnosed. These findings are characteristic for the premature aging syndromes. The cardial symptoms of tall stature, bird-like face, pseudoexophthalmos, skleroderma-like and poikiloderma-like cutaneous lesions, scarce hair growth, early diabetes mellitus and arteriosclerosis led to the diagnosis of metageria.
 ...
PMID:[Metageria--clinical manifestations of a premature aging syndrome]. 941 Aug 52

Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanin CD151 expressed in keratinocytes at the dermal-epidermal junction. The NGS panel was applied to a cohort of 92 consanguineous families of unknown subtype of EB. In one family, a homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T>C) at the exon 5/intron 5 border was identified, and RT-PCR and whole transcriptome analysis by RNA-seq confirmed deletion of the entire exon 5 encoding 25 amino acids. Immunofluorescence of proband's skin and Western blot of skin proteins with a monoclonal antibody revealed complete absence of CD151. Transmission electron microscopy showed intracellular disruption and cell-cell dysadhesion of keratinocytes in the lower epidermis. Clinical examination of the 33-year old proband, initially diagnosed as Kindler syndrome, revealed widespread blistering, particularly on pretibial areas, poikiloderma, nail dystrophy, loss of teeth, early onset alopecia, and esophageal webbing and strictures. The patient also had history of nephropathy with proteinuria. Collectively, the results suggest that biallelic loss-of-function mutations in CD151 underlie an autosomal recessive mechano-bullous disease with systemic features. Thus, CD151 should be considered as the 20th causative, EB-associated gene.
 ...
PMID:Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. 2913 20