Disease #05810 (cutis laxa (cutis laxa))

Official abbreviation cutis laxa
Name cutis laxa
OMIM ID -
Inheritance -
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2020-08-08 21:29:17 +02:00 (CEST)
Date last edited N/A


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00307277 Fam1PatII1 PubMed: Van Damme 2017 2-generation family, 2 affected (F, fetus), unaffected heterozygous carrier parents F yes Iran - - - - - cutis laxa generalized cutis laxa; no large skin folds; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; entropion; hip dysplasia; contractures; no kyphoscoliosis; no marfanoid habitus; hypotonia; cardiac abnormalities; aortic dilation; no urogenital abnormalities; ICAM-1 reduction; Golgi-trafficking defects; giant autolysosomes; extracellular matrix defects ATP6V1E1 ATP6V1E1 1 2 Johan den Dunnen
00307278 Fam1PatII2 PubMed: Van Damme 2017 fetus - yes Iran - - - - - cutis laxa no generalized cutis laxa; no large skin folds; no improving cutis laxa with age; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; no contractures; no kyphoscoliosis; no marfanoid habitus; cardiac abnormalities; no aortic dilation; no pneumothorax; no urogenital abnormalities ATP6V1E1 ATP6V1E1 1 1 Johan den Dunnen
00307279 Fam2PatII1 PubMed: Van Damme 2017 2-generation family, affected sister/brother unaffected heterozygous carrier parents F yes Kuwait - - - - - cutis laxa generalized cutis laxa; no large skin folds; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; entropion; hip dysplasia; no contractures; kyphoscoliosis; marfanoid habitus; hypotonia; cardiac abnormalities; no aortic dilation; pneumothorax; no MRI abnormalities; no urogenital abnormalities; transferrin isoelectric focusing type II abnormalities; mass spec abnormalities ATP6V1E1 ATP6V1E1 1 2 Johan den Dunnen
00307280 Fam2PatII2 PubMed: Van Damme 2017 brother M yes Kuwait - - - - - cutis laxa generalized cutis laxa; no large skin folds; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; entropion; no hip dysplasia; no contractures; kyphoscoliosis; marfanoid habitus; hypotonia; no cardiac abnormalities; no aortic dilation; pneumothorax; inguinal herniation, cryptorchidy; transferrin isoelectric focusing type II abnormalities; mass spec abnormalities ATP6V1E1 ATP6V1E1 1 1 Johan den Dunnen
00307281 Fam3PatII1 PubMed: Van Damme 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - cutis laxa generalized cutis laxa; large skin folds; improving cutis laxa with age; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; no entropion; no hip dysplasia; no contractures; no kyphoscoliosis; marfanoid habitus; hypotonia; cardiac abnormalities; no aortic dilation; seizures; MRI abnormalities; transferrin isoelectric focusing abnormalities; mass spec abnormalities; ICAM-1 reduction; Golgi-trafficking defects; no giant autolysosomes; extracellular matrix defects ATP6V1A ATP6V1A 1 1 Johan den Dunnen
00307282 Fam4PatII1 PubMed: Van Damme 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - cutis laxa generalized cutis laxa; large skin folds; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; no entropion; hip dysplasia; contractures; no kyphoscoliosis; no marfanoid habitus; hypotonia; cardiac abnormalities; aortic dilation; seizures; MRI abnormalities; inguinal herniation, cryptorchidy; transferrin isoelectric focusing abnormalities; mass spec abnormalities; extracellular matrix defects ATP6V1A ATP6V1A 1 1 Johan den Dunnen
00307283 Fam5PatII1 PubMed: Van Damme 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - cutis laxa generalized cutis laxa; large skin folds; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; entropion; no hip dysplasia; no contractures; no kyphoscoliosis; no marfanoid habitus; hypotonia; cardiac abnormalities; no aortic dilation; MRI abnormalities ATP6V1A ATP6V1A 1 1 Johan den Dunnen
00377282 - - - F no - - - - - - cutis laxa - - TAB2 1 1 Bert Callewaert
00395663 Fam1PatIV2 PubMed: Pottie 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - cutis laxa coarse face, no arched eyebrows, no proptosis, downslanted palpebral fissures, long eyelashes, no convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, prominent nasolabial folds, long philtrum, thick lower lip vermillion, no highly arched palate; cutis laxa; deep palmar creases; inguinal hernia; no craniosynostosis; short stature; brachydactyly; clinodactyly; no syndactyly; joint hyperlaxity; genua vara; no learning difficulties; cardiac abnormalities; no hearing loss; no feeding problems/GER; urological abnormalities - LTBP1 1 1 Johan den Dunnen
00395664 Fam2PatV3 PubMed: Pottie 2021 5-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - cutis laxa coarse face, arched eyebrows, proptosis, downslanted palpebral fissures, long eyelashes, convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, prominent nasolabial folds, long philtrum, thick lower lip vermillion, no highly arched palate; cutis laxa; deep palmar creases; inguinal hernia; craniosynostosis; short stature; brachydactyly; clinodactyly; syndactyly; no joint hyperlaxity; no genua vara; learning difficulties; cardiac abnormalities; hearing loss; no feeding problems/GER; no urological abnormalities - LTBP1 1 5 Johan den Dunnen
00395665 Fam2PatV4 PubMed: Pottie 2021 - F yes Pakistan - - - - - cutis laxa no coarse face, arched eyebrows, no proptosis, no downslanted palpebral fissures, long eyelashes, convex nasal ridge, wide nasal bridge, broad tip nose, no sagging cheeks, no prominent nasolabial folds, no long philtrum, no thick lower lip vermillion, highly arched palate; cutis laxa; no deep palmar creases; no inguinal hernia; no craniosynostosis; short stature; brachydactyly; no clinodactyly; no syndactyly; no joint hyperlaxity; no genua vara; learning difficulties; no cardiac abnormalities; no hearing loss; no feeding problems/GER; no urological abnormalities - LTBP1 1 1 Johan den Dunnen
00395666 Fam2PatV8 PubMed: Pottie 2021 - M yes Pakistan - - - - - cutis laxa coarse face, arched eyebrows, proptosis, downslanted palpebral fissures, long eyelashes, convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, prominent nasolabial folds, long philtrum, thick lower lip vermillion, highly arched palate; cutis laxa; deep palmar creases; inguinal hernia; craniosynostosis; short stature; brachydactyly; clinodactyly; syndactyly; no joint hyperlaxity; no genua vara; no learning difficulties; no cardiac abnormalities; hearing loss; no feeding problems/GER; no urological abnormalities - LTBP1 1 1 Johan den Dunnen
00395667 Fam2PatV9 PubMed: Pottie 2021 - F yes Pakistan - - - - - cutis laxa coarse face, arched eyebrows, proptosis, downslanted palpebral fissures, long eyelashes, convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, prominent nasolabial folds, long philtrum, thick lower lip vermillion, highly arched palate; cutis laxa; deep palmar creases; inguinal hernia; craniosynostosis; short stature; brachydactyly; clinodactyly; syndactyly; no joint hyperlaxity; no genua vara; learning difficulties; no cardiac abnormalities; hearing loss; no feeding problems/GER; urological abnormalities - LTBP1 1 1 Johan den Dunnen
00395668 Fam3PatII1 PubMed: Pottie 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Pakistan - - - - - cutis laxa coarse face, arched eyebrows, proptosis, no downslanted palpebral fissures, long eyelashes, convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, prominent nasolabial folds, long philtrum, thick lower lip vermillion, highly arched palate; cutis laxa; deep palmar creases; inguinal hernia; craniosynostosis; short stature; brachydactyly; clinodactyly; syndactyly; joint hyperlaxity; genua vara; no learning difficulties; cardiac abnormalities; no hearing loss; feeding problems/GER; no urological abnormalities - LTBP1 1 2 Johan den Dunnen
00395669 Fam3PatII2 PubMed: Pottie 2021 sister F yes Pakistan - - - - - cutis laxa coarse face, arched eyebrows, proptosis, no downslanted palpebral fissures, long eyelashes, convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, no prominent nasolabial folds, long philtrum, thick lower lip vermillion, highly arched palate; cutis laxa; deep palmar creases; no inguinal hernia; craniosynostosis; short stature; brachydactyly; clinodactyly; syndactyly; joint hyperlaxity; no genua vara; no learning difficulties; no cardiac abnormalities; no hearing loss; feeding problems/GER; no urological abnormalities - LTBP1 1 1 Johan den Dunnen
00395670 Fam4PatII1 PubMed: Pottie 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - cutis laxa coarse face, no arched eyebrows, proptosis, downslanted palpebral fissures, , convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, prominent nasolabial folds, long philtrum, thick lower lip vermillion, no highly arched palate; cutis laxa; deep palmar creases; no inguinal hernia; craniosynostosis; short stature; no brachydactyly; clinodactyly; no syndactyly; joint hyperlaxity; genua vara; no cardiac abnormalities; no hearing loss; feeding problems/GER; no urological abnormalities - LTBP1 1 1 Johan den Dunnen
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