Disease #05992 (CHAPLE (Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy), OMIM:226300)

Official abbreviation CHAPLE
Name Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
OMIM ID 226300
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 12
Phenotype entries for this disease 11
Associated with 1 gene CD55
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00402898 Fam;Pat1 PubMed: Kurolap 2017, PubMed: Kurolap 2022 multi-generation family, 1 NDD affected, unaffected heterozygous carrier parents M yes Israel Muslim Arab - - - - CHAPLE, NDD polyhydramnios; bi-temporal narrowing, plagiocephaly, bushy eyebrows with medial flaring, long eyelashes, depressed nasal bridge, cupid bowed lips, micrognathia; severe global developmental delay; self-injurious behavior; weight -2.4 SD, height -2.5 SD; microcephaly (OFC -3.5 SD); axial hypotonia, mild motor-sensory demyelinating polyneuropathy; MRI brain hydrocephalus, thin corpus callosum, partially shifted vermis; optic atrophy, abnormal visual-evoked potential, exotropia; abnormal brain-stem-evoked response auditory; congenital hip dysplasia, severe scoliosis, pes cavus, tapering fingers; oxygen supplementation, gastrostomy feeding, cryptorchidism, CD55-deficiency, see paper; ..., protein-losing enteropathy, hypercoagulopathy - CD55, NRCAM 2 1 Johan den Dunnen
00402908 Fam PubMed: Kurolap 2017 5-generation family, 6 affected (4F, 2M) F;M yes Israel Muslim;Arab - - - - CHAPLE see paper; ..., protein-losing enteropathy, hypercoagulability, generalized edema, severe hypoalbuminemia, diarrhea, abdominal complications, repeated thrombotic events (3/6) - CD55 1 6 Johan den Dunnen
00402909 Inab PubMed: Lublin 1994 - M - Japan - - - - - CHAPLE, CROM , see paper; ..., protein-losing enteropathy, ileocecal tumor (hemicolectomy) CD55 CD55 1 1 Johan den Dunnen
00402913 Osad PubMed: Daniels 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - CHAPLE, CROM - CD55 CD55 1 1 Johan den Dunnen
00402916 Fam1Pat1 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - CHAPLE see paper; ... - CD55, CR2, DYRK3, FAM163A, RASAL2, RGSL1 6 1 Johan den Dunnen
00402917 Fam2Pat2 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - CHAPLE see paper; ... - CD55, CEP290 2 1 Johan den Dunnen
00402918 Fam3Pat1 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - CHAPLE see paper; ... - AMOTL2, CCDC70, CD55, CYSLTR2, FBXO40, GATA2, MAATS1, POLQ, POSTN, RBM6 10 1 Johan den Dunnen
00402919 Fam4Pat1/2/3 PubMed: Ozen 2017 2-generation family, affected sister/2 brothers, unaffected heterozygous carrier parents F;M yes Turkey - - - - - CHAPLE see paper; ... CD55 CD55 1 3 Johan den Dunnen
00402920 Fam5Pat1 PubMed: Ozen 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Turkey - - - - - CHAPLE see paper; ... - ATF7IP, CD27, CD55, GPR98, MRPS27, POLR3G 6 2 Johan den Dunnen
00402921 Fam6Pat1 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - CHAPLE see paper; ... CD55 CD55 1 1 Johan den Dunnen
00402922 Fam7Pat1 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Syria - - - - - CHAPLE see paper; ... CD55 CD55 1 1 Johan den Dunnen
00402923 Fam8Pat1 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier mother F yes Morocco - - - - - CHAPLE see paper; ... CD55 CD55 1 1 Johan den Dunnen
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