Entry Search - 604633 614437

Search: '604633 614437 (Search in: MIM number)'

Results: 2 entries.

* 604633. EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2; EFEMP2
Cytogenetic location: 11q13.1, Genomic coordinates (GRCh38): 11:65,866,441-65,872,800
Matching terms: 604633
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11q13.1	Cutis laxa, autosomal recessive, type IB	614437	AR	3

▲ Close

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

▲ Close

# 614437. CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B
Cytogenetic location: 11q13.1
Matching terms: 614437
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
11q13.1	Cutis laxa, autosomal recessive, type IB	614437	AR	3	EFEMP2	604633

▲ Close

Cutis laxa - PS123700 - 14 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p22.3	Cutis laxa, autosomal recessive, type IIE	AR	3	619451	LTBP1	150390
2p16.1	Cutis laxa, autosomal recessive, type ID	AR	3	620780	EFEMP1	601548
3q13.31	Cutis laxa, autosomal recessive, type IID	AR	3	617403	ATP6V1A	607027
7q11.23	Cutis laxa, autosomal dominant	AD	3	123700	ELN	130160
10q24.1	Cutis laxa, autosomal recessive, type IIIA	AR	3	219150	ALDH18A1	138250
10q24.1	Cutis laxa, autosomal dominant 3	AD	3	616603	ALDH18A1	138250
11q13.1	Cutis laxa, autosomal recessive, type IB	AR	3	614437	EFEMP2	604633
12q24.31	Cutis laxa, autosomal recessive, type IIA	AR	3	219200	ATP6V0A2	611716
14q32.12	Cutis laxa, autosomal recessive, type IA	AR	3	219100	FBLN5	604580
14q32.12	?Cutis laxa, autosomal dominant 2	AD	3	614434	FBLN5	604580
17q25.3	Cutis laxa, autosomal recessive, type IIIB	AR	3	614438	PYCR1	179035
17q25.3	Cutis laxa, autosomal recessive, type IIB	AR	3	612940	PYCR1	179035
19q13.2	Cutis laxa, autosomal recessive, type IC	AR	3	613177	LTBP4	604710
22q11.21	Cutis laxa, autosomal recessive, type IIC	AR	3	617402	ATP6V1E1	108746

▲ Close

Links
Testing GTR EuroGentest Lethal arteriopathy syndro… Autosomal recessive cutis …	Clinical Resources Clinical Trials EuroGentest Lethal arteriopathy syndro… Autosomal recessive cutis … Gene Reviews Genetic Alliance GTR OrphaNet Lethal arteriopathy syndro… Autosomal recessive cutis … POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype

▲ Close

ICD+
ORPHA: 314718, 90349 DO: 0070133

▲ Close

Search: 604633 614437 (Search in: MIM number)

Results: 2 entries.

* 604633. EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2; EFEMP2
Cytogenetic location: 11q13.1, Genomic coordinates (GRCh38): 11:65,866,441-65,872,800
Matching terms: 604633

# 614437. CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B
Cytogenetic location: 11q13.1
Matching terms: 614437

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM^® and Online Mendelian Inheritance in Man^® are registered trademarks of the Johns Hopkins University.
Copyright^® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025