Disease #03275 (ARCL1C (cutis laxa, autosomal recessive, type IC (ARCL-1C)), OMIM:613177)

Official abbreviation ARCL1C
Name cutis laxa, autosomal recessive, type IC (ARCL-1C)
OMIM ID 613177
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 10
Phenotype entries for this disease 9
Associated with 1 gene LTBP4
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00081465 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F no United States white - - - - ARCL1C cutis laxa - mainly on trunk, little facial involvement diaphragmatic slinding hernia peripheral pulmonary artery stenosis severe bladder diverticula rectal prolapse, joint hypermobility, large ears, beaked nose LTBP4 LTBP4 2 1 Bert Callewaert
00081466 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - M yes Pakistan - - - - - ARCL1C generalized congenital cutis laxa with facial involvement severe pulmonary emphysema, bronchomalacia peripheral pulmonary artery stenoses hypotonia prominent veins dilated pelvis left kidney LTBP4 LTBP4 1 1 Bert Callewaert
00081467 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F no France - - - - - ARCL1C generalized cutis laxa with facial involvement severe pulmonary emphysema peripheral pulmonary artery stenoses hypotonia bladder diverticula large ears, low nasal bridge, prominent veins LTBP4 LTBP4 2 1 Bert Callewaert
00081468 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - M yes Spain white - - - - ARCL1C generalized cutis laxa with facial involvement severe pulmonary emphysema congentital hernia diaphragmantica (surgery) peripheral pulmonary artery stenoses hypotonia frontal bossing, thin hair growth LTBP4 LTBP4 1 1 Bert Callewaert
00081469 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes (Afghanistan) middle-east - - - - ARCL1C congenital generalized cutis laxa with facial involvement, inguinal herniae, severe pulmonary emphysema, diaphragmatic hernia (surgery), polyvalvular disease, atrial septum aneurysm, recal rplapse, abdomnial wall herniae, prominent veins LTBP4 LTBP4 1 1 Bert Callewaert
00081470 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - M yes Turkey - - - - - ARCL1C congenital generalized cutis laxa with facial involvement, pulmonary emphysema, pulmonary and systemic hypertension, late onset GBS sepsis, unilateral pyelic dilatation LTBP4 LTBP4 1 1 Bert Callewaert
00081471 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes Pakistan - - - - - ARCL1C generalized congenital cutis laxa with facial involvement, diaphragmatic hernia, pulmonary hypertension, perpheral pulmonary artery stenoses, dysplastic pulmonary and aortic valves, atrium septum defect, severe gastro-intestinal diverticula, hypotonia, gastric perforation, polyhydramnion, esohageal tortuosity, gastric perforation, tissue fragility LTBP4 LTBP4 1 1 Bert Callewaert
00081472 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes Spain unknown - - - - ARCL1C mild cutis laxa (generalized with later onset), mild pulmonary emphysema, perpheral pulmonary artery stenoses, tricuspid regurgitation, prominent forehead, blepharophimosis, epicanthal folds, short nose, elongated philtrum, lowset ears, webbed neck, low posterior hear-line, pelvic insufficiency, brain abcesses. LTBP4 LTBP4 1 1 Bert Callewaert
00081473 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - M yes - middle-east - - - - ARCL1C congenital generalized cutis laxa with facial involvement, hiatal hernia, severe pulmonary emphysema, mild tricuspid regurgitation, pulmonary hypertension, bladder diverticula, hypotonia, large ears, frontal bossing, broad low nasal bridge, small fontanel, hypdronephrosis, tracheomalacia, joint hypermobility LTBP4 LTBP4 1 1 Bert Callewaert
00229683 - - - F yes Venezuela - 01y06m - - - ARCL1C - LTBP4 LTBP4 1 1 Marco Ritelli
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