Disease #00429 (SCPNK (scapuloperoneal syndrome, neurogenic, Kaeser type (SCPNK)), OMIM:181400)

Official abbreviation SCPNK
Name scapuloperoneal syndrome, neurogenic, Kaeser type (SCPNK)
OMIM ID 181400
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene DES
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00073109 Fam3Pat8/IV:2 PubMed: Walter 2007, Journal: Walter 2007 4-generation family, 5 affected (F, 4M) M yes Germany - >48y 0 - - SCPNK Distal muscle weakness (HP:0002460), mild dysphagia (HP:0002015), Gynecomastia (HP:0000771), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458), Degenerative myopathy with neurogenic-like changes (HP:0003198), DES DES 1 5 Pieter Klap
00073110 Pam5Pat14/IV:3 PubMed: Walter 2007, Journal: Walter 2007 5-generation family, 5 affected (3F, 2M) F - Germany - >33y 0 - - SCPNK Myalgia (HP:0003326), Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), Lower limb muscle weakness (HP:0007340), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458) DES DES 1 5 Pieter Klap
00073112 Fam5Pat15/III:2 PubMed: Walter 2007, Journal: Walter 2007 Pat15/III:2 F - Germany - >64y 0 - - SCPNK Proximal muscle weakness in lower limbs (HP:0008994), Limb-girdle muscular dystrophy (HP:0006785), Arrhythmia (HP:0011675), Respiratory insufficiency (HP:0002093), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458), Degenerative myopathy (HP:0003198) DES DES 1 1 Pieter Klap
00208011 Fam1 PubMed: Kaser 1965 20 affecteds 8-generation family - - - - - 0 - - SCPNK Scapuloperoneal syndrome type kaeser DES DES 1 20 Johan den Dunnen
00208046 Fam3 PubMed: Walter 2007, OMIM:var0016 6 affecteds 4-generation family - - - - - 0 - - SCPNK - DES DES 1 6 Johan den Dunnen
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