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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cutis laxa, recessive (C536225)
Parent Node: Diseases (C)
..Starting node ..CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Child Nodes:
Sister Nodes:
..AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
..ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
..Animal Diseases (D000820) 139
..AORTIC VALVE DISEASE 1 (OMIM:109730)
..ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
..AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
..AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
..Bacterial Infections and Mycoses (D001423) 620
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..BRACHYDACTYLY, TYPE E1 (OMIM:113300)
..BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430)
..CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
..Cardiovascular Diseases (D002318) 1025
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
..Chemically-Induced Disorders (D064419) 111
..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
..Congenital, Hereditary, and Neonatal Diseases and Abnormalities (D009358) 4904
..CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
..COUSIN SYNDROME (OMIM:260660)
..CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
..CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
..D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
..DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
..DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
..Digestive System Diseases (D004066) 640
..Disorders of Environmental Origin (D007280) 4
..ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
..ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
..EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
..Endocrine System Diseases (D004700) 742
..Eye Diseases (D005128) 1278
..Female Urogenital Diseases and Pregnancy Complications (D005261) 962
..FRONTONASAL DYSPLASIA 1 (OMIM:136760)
..FRONTONASAL DYSPLASIA 2 (OMIM:613451)
..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
..GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
..GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
..GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
..GREENBERG DYSPLASIA (OMIM:215140)
..Hemic and Lymphatic Diseases (D006425) 790
..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
..HYPOTRICHOSIS 2 (OMIM:146520)
..ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
..Immune System Diseases (D007154) 597
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
..KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
..LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
..Male Urogenital Diseases (D052801) 765
..MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000)
..MEGALOBLASTIC ANEMIA 1 (OMIM:261100)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..Mental Disorders (D001523) 1080
..METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
..MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
..MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
..MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Musculoskeletal Diseases (D009140) 2320
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 (OMIM:607949)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 (OMIM:611046)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 (OMIM:612929)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED (OMIM:300259)
..MYOPATHY, SPHEROID BODY (OMIM:182920)
..Neoplasms (D009369) 1125
..Nervous System Diseases (D009422) 3641
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
..NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR (OMIM:607721)
..NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
..Nutritional and Metabolic Diseases (D009750) 1518
..Occupational Diseases (D009784) 28
..Otorhinolaryngologic Diseases (D010038) 602
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
..PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL (OMIM:613000)
..Parasitic Diseases (D010272) 178
..Pathological Conditions, Signs and Symptoms (D013568) 3149
..POLYDACTYLY, PREAXIAL II (OMIM:174500)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
..PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
..RENAL TUBULAR DYSGENESIS (OMIM:267430)
..Respiratory Tract Diseases (D012140) 422
..SCAPULOPERONEAL MYOPATHY, MYH7-RELATED (OMIM:181430)
..SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
..Skin and Connective Tissue Diseases (D017437) 1491
..SPLIT-HAND/FOOT MALFORMATION 2 (OMIM:313350)
..SPLIT-HAND/FOOT MALFORMATION 3 (OMIM:246560)
..SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
..SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
..SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
..SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
..SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
..Stomatognathic Diseases (D009057) 594
..THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
..VAN DER WOUDE SYNDROME 1, MODIFIER OF (OMIM:604547)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
..Virus Diseases (D014777) 307
..VISCERAL MYOPATHY (OMIM:155310)
..WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..Wounds and Injuries (D014947) 274
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2903

Name:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA

Definition:

Alternative IDs:

ParentIDs:

MESH:C536225

TreeNumbers:

C16.320.850.180/C536225/219100 |C17.300.230/C536225/219100 |C17.800.827.180/C536225/219100

Synonyms:

ARCL1 |ARCL1A |CUTIS LAXA, AUTOSOMAL RECESSIVE

Slim Mappings:

Connective tissue disease|Genetic disease (inborn)|Skin disease

Reference:

MedGen: 219100
MeSH: 219100
OMIM: 219100;

Genes: FBLN5;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000271	Abnormality of the face
3	HP:0001166	Arachnodactyly
4	HP:0004970	Ascending tubular aorta aneurysm
5	HP:0000015	Bladder diverticulum
6	HP:0000776	Congenital diaphragmatic hernia
7	HP:0002097	Emphysema
8	HP:0001425	Heterogeneous
9	HP:0000023	Inguinal hernia
10	HP:0001388	Joint laxity
11	HP:0000252	Microcephaly
12	HP:0001562	Oligohydramnios
13	HP:0001548	Overgrowth
14	HP:0000767	Pectus excavatum
15	HP:0002205	Recurrent respiratory infections
16	HP:0001582	Redundant skin
17	HP:0004381	Supravalvular aortic stenosis
18	HP:0001537	Umbilical hernia
19	HP:0004948	Vascular tortuosity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_016938.4(EFEMP2):c.1226G>A (p.Arg409Gln)	30008	EFEMP2	Benign	61893867	RCV000032267;	N	MedGen:CN033664,OMIM:219100	11	65634495	65634495	NM_016938.4:c.1226G>A	NP_058634.4:p.Arg409Gln	NC_000011.9:g.65634495C>T	-	CN033664 219100 Autosomal recessive cutis laxa type IA
NM_016938.4(EFEMP2):c.1189G>A (p.Ala397Thr)	30008	EFEMP2	Pathogenic	193302868	RCV000032266; RCV000033128;	N	MedGen:C3280798,OMIM:614437; MedGen:CN033664,OMIM:219100	11	65634532	65634532	NM_016938.4:c.1189G>A	NP_058634.4:p.Ala397Thr	NC_000011.9:g.65634532C>T	OMIM Allelic Variant:604633.0008	C3280798 614437 Autosomal recessive cutis laxa type 1B; CN033664 219100 Autosomal recessive cutis laxa type IA
NM_016938.4(EFEMP2):c.1070_1073dupCCGC (p.Asp359Argfs)	30008	EFEMP2	Pathogenic	193302865	RCV000032265; RCV000005758;	N	MedGen:C3280798,OMIM:614437; MedGen:CN033664,OMIM:219100	11	65635429	65635432	NM_016938.4:c.1070_1073dupCCGC	NP_058634.4:p.Asp359Argfs	NC_000011.9:g.65635429_65635432dupGCGG	OMIM Allelic Variant:604633.0003	C3280798 614437 Autosomal recessive cutis laxa type 1B; CN033664 219100 Autosomal recessive cutis laxa type IA
NM_016938.4(EFEMP2):c.835C>T (p.Arg279Cys)	30008	EFEMP2	Pathogenic	119489102	RCV000032275; RCV000005757;	N	MedGen:C3280798,OMIM:614437; MedGen:CN033664,OMIM:219100	11	65635993	65635993	NM_016938.4:c.835C>T	NP_058634.4:p.Arg279Cys	NC_000011.9:g.65635993G>A	OMIM Allelic Variant:604633.0002	C3280798 614437 Autosomal recessive cutis laxa type 1B; CN033664 219100 Autosomal recessive cutis laxa type IA
NM_016938.4(EFEMP2):c.800G>A (p.Cys267Tyr)	30008	EFEMP2	Pathogenic	193302866	RCV000032274; RCV000023384;	N	MedGen:C3280798,OMIM:614437; MedGen:CN033664,OMIM:219100	11	65636028	65636028	NM_016938.4:c.800G>A	NP_058634.4:p.Cys267Tyr	NC_000011.9:g.65636028C>T	OMIM Allelic Variant:604633.0004	C3280798 614437 Autosomal recessive cutis laxa type 1B; CN033664 219100 Autosomal recessive cutis laxa type IA
NM_016938.4(EFEMP2):c.775A>G (p.Ile259Val)	30008	EFEMP2	Benign	601314	RCV000032273; RCV000155538;	N	MedGen:CN033664,OMIM:219100; MedGen:CN169374	11	65636053	65636053	NM_016938.4:c.775A>G	NP_058634.4:p.Ile259Val	NC_000011.9:g.65636053T>C	-	CN033664 219100 Autosomal recessive cutis laxa type IA; CN169374 not specified
NM_016938.4(EFEMP2):c.608A>C (p.Asp203Ala)	30008	EFEMP2	Pathogenic	193302864	RCV000032272; RCV000034873;	N	MedGen:C3280798,OMIM:614437; MedGen:CN033664,OMIM:219100	11	65637447	65637447	NM_016938.4:c.608A>C	NP_058634.4:p.Asp203Ala	NC_000011.9:g.65637447T>G	OMIM Allelic Variant:604633.0009	C3280798 614437 Autosomal recessive cutis laxa type 1B; CN033664 219100 Autosomal recessive cutis laxa type IA
NM_016938.4(EFEMP2):c.577delC (p.Gln193Serfs)	30008	EFEMP2	Pathogenic	193302870	RCV000032271;	N	MedGen:CN033664,OMIM:219100	11	65637622	65637622	NM_016938.4:c.577delC	NP_058634.4:p.Gln193Serfs	NC_000011.9:g.65637622delG	-	CN033664 219100 Autosomal recessive cutis laxa type IA
NM_016938.4(EFEMP2):c.377A>T (p.Glu126Val)	30008	EFEMP2	Pathogenic	193302869	RCV000032270; RCV000033126;	N	MedGen:C3280798,OMIM:614437; MedGen:CN033664,OMIM:219100	11	65638120	65638120	NM_016938.4:c.377A>T	NP_058634.4:p.Glu126Val	NC_000011.9:g.65638120T>A	OMIM Allelic Variant:604633.0006	C3280798 614437 Autosomal recessive cutis laxa type 1B; CN033664 219100 Autosomal recessive cutis laxa type IA
NM_016938.4(EFEMP2):c.376G>A (p.Glu126Lys)	30008	EFEMP2	Pathogenic	193302867	RCV000032269; RCV000033125;	N	MedGen:C3280798,OMIM:614437; MedGen:CN033664,OMIM:219100	11	65638121	65638121	NM_016938.4:c.376G>A	NP_058634.4:p.Glu126Lys	NC_000011.9:g.65638121C>T	OMIM Allelic Variant:604633.0005	C3280798 614437 Autosomal recessive cutis laxa type 1B; CN033664 219100 Autosomal recessive cutis laxa type IA
NM_016938.4(EFEMP2):c.169G>A (p.Glu57Lys)	30008	EFEMP2	Pathogenic	119489101	RCV000032268; RCV000005756;	N	MedGen:C3280798,OMIM:614437; MedGen:CN033664,OMIM:219100	11	65638826	65638826	NM_016938.4:c.169G>A	NP_058634.4:p.Glu57Lys	NC_000011.9:g.65638826C>T	OMIM Allelic Variant:604633.0001	C3280798 614437 Autosomal recessive cutis laxa type 1B; CN033664 219100 Autosomal recessive cutis laxa type IA
NM_006329.3(FBLN5):c.1171G>T (p.Glu391Ter)	10516	FBLN5	Pathogenic	80338767	RCV000020639;	N	MedGen:CN033664,OMIM:219100	14	92343845	92343845	NM_006329.3:c.1171G>T	NP_006320.2:p.Glu391Ter	NC_000014.8:g.92343845C>A	OMIM Allelic Variant:604580.0011	CN033664 219100 Autosomal recessive cutis laxa type IA
NM_006329.3(FBLN5):c.1090G>T (p.Asp364Tyr)	10516	FBLN5	Benign	1802492	RCV000020638;	N	MedGen:CN033664,OMIM:219100	14	92343926	92343926	NM_006329.3:c.1090G>T	NP_006320.2:p.Asp364Tyr	NC_000014.8:g.92343926C>A	-	CN033664 219100 Autosomal recessive cutis laxa type IA
NM_006329.3(FBLN5):c.679T>C (p.Ser227Pro)	10516	FBLN5	Pathogenic	28939370	RCV000005809;	N	MedGen:CN033664,OMIM:219100	14	92353597	92353597	NM_006329.3:c.679T>C	NP_006320.2:p.Ser227Pro	NC_000014.8:g.92353597A>G	OMIM Allelic Variant:604580.0001	CN033664 219100 Autosomal recessive cutis laxa type IA
NM_006329.3(FBLN5):c.649T>C (p.Cys217Arg)	10516	FBLN5	Pathogenic	80338766	RCV000020642;	N	MedGen:CN033664,OMIM:219100	14	92353627	92353627	NM_006329.3:c.649T>C	NP_006320.2:p.Cys217Arg	NC_000014.8:g.92353627A>G	OMIM Allelic Variant:604580.0010	CN033664 219100 Autosomal recessive cutis laxa type IA
NM_006329.3(FBLN5):c.604G>A (p.Gly202Arg)	10516	FBLN5	Pathogenic	80338765	RCV000020641;	N	MedGen:CN033664,OMIM:219100	14	92357580	92357580	NM_006329.3:c.604G>A	NP_006320.2:p.Gly202Arg	NC_000014.8:g.92357580C>T	-	CN033664 219100 Autosomal recessive cutis laxa type IA