Ehlers-Danlos syndrome type IV

Table 1 Classification of Ehlers-Danlos syndromes

Type	Former nosology	OMIM #	Inheritance	Gene and locus	References
Classical type	Type I	130000	AD^a	COL5A1, 9q34 COL5A2, 17q21 Other?	[59, 60]
Classical type	Type II	130010	AD	COL5A1, 9q34 COL5A2 17q21 Other?	[59, 60]
Ehlers-Danlos like syndrome with Tenascin X deficiency		606408	AR^b	TNXB, 6p21.3	[61] [62]
Hypermobility type	Type III	130020	AD	TNXB, 6p21.3 Other?	[63]
Vascular type	Type VIA Type VIB	225400	AR	PLOD, 1p36 ?	[64]
Arthrochalasia type	Types VIIA and VIIB	130060	AD	COL1A1, 17q21 COL1A2, 7q22	[65] [66]
Dermatosparaxis type	Type VIIC	225410	AR	ADAMTS2, 5q23	[67]
Progeroid type		130070	AD	XGPT1, 5q35	[68]
Periodontitis type	Type VIII	130080	AD	?, 12p13	[69]
Ehlers-Danlos variant with periventricular heterotopia		300537	XL^c	FLNA, Xq28	[70]

ISSN: 1750-1172