Table 3.

Comparison of clinical features among different SLC29A3-related conditions

	Pigmented hypertrichosis with insulin-dependent diabetes (PHID)	H syndrome	Dysosteosclerosis
Skin	Patches and plaques of hyperpigmented and hypertrichotic skin, lymphohistiocytic infiltration	Patches and plaques of hyperpigmented and hypertrichotic skin, lymphohistiocytic infiltration	Patches of hyperpigmented skin. Hypertrichosis is rare (25)
Craniofacial	Rarely: hypertelorism, flat and broad nasal bridge, upturned nares, prominent maxillary bone and gingival hypertrophy (9)	Exophthalmos	Frontal bossing, mid-face hypoplasia
Other skeletal defects	Camptodactyly, clinodactyly, short stature	Camptodactyly, short stature, hallux valgus	Short stature, sclerotic platyspondyly, metaphyseal sclerosis, diaphyseal widening and demarcated osteosclerosis
Hearing		Deafness	Otosclerosis
Bone marrow	The bone marrow: non-clonal myeloproliferative process. Numerous monocytes and histiocytes and moderate myelofibrosis	Red cell aplasia due to myelofibrosis in one patient	Myelofibrosis and anemia are rare but have been reported in other families (2,26)
Liver	Hepatosplenomegaly	Hepatosplenomegaly	Normal
Heart	Pulmonary stenosis, pericarditis	Pulmonary stenosis, patent ductus arteriosus with pulmonary hypertension, pericarditis	Dysplastic pulmonary valves, pulmonary hypertension
Endocrine	Diabetes, hypogonadism	Diabetes, hypogonadism	Normal
Other	Lymphadenopathy, histiocyte infiltration	Azoospermia	Regression, compression of CNS and cranial nerves
SLC29A3 mutations	p.Met116Arg, p.Glu444X, p.Tyr314fs, p.Gly437Arg, p.Thr449Arg (homozygous)	p.Arg134Cys, p.Leu349SerfsX56, p.Arg363Gln, p.Arg363Trp, p.Gly427Ser, p.Gly437Arg	Subject 1: p.Ser203Pro, p.Arg386Gln; subject 2: p.Thr449Arg (homozygous)