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Table 1 Non-nutritional diseases of hypophosphatemia

From: FGF23 and its role in X-linked hypophosphatemia-related morbidity

Disease of interest

Abbreviation

MIM#

Gene affected

FGF23 levels

Hypophosphatemia

Calcitriol levels

Osteomalacia/ rickets/stunted growth

Craniofacial abnormalities

Dental abscesses

Enthesopathies

Nephrocalcinosis

Hearing loss

Hypertension

References

X-linked hypophosphatemia

XLH

307800

PHEX

↑

Y

Normal or low

1st

1st

1st

1st

2nd

1st

Y

[3, 9]

Autosomal dominant hypophosphatemic rickets

ADHR

193100

FGF23

↑

Y

Normal or low

1st

N/A

1st

N/A

N/A

N/A

N/A

[51]

Autosomal recessive hypophosphatemic rickets 1

ARHR1

241520

DMP1

↑

Y

N/A

1st

1st

1st

Y

N/A

N/A

Y

[52]

Autosomal recessive hypophosphatemic rickets 2

ARHR2

613312

ENPP1

↑

Y

N/A

1st

N/A

1st

N/A

N/A

Has been associated with GACI

1st [GACI, [248]]

[26]

Autosomal recessive hypophosphatemic rickets 3 (Raine Syndrome)

ARHR3

259775

FAM20C

↑

Y

N/A

Not mentioned in the very few cases that survived to preadolescence

1st

N/A

N/A

N/A

N/A

N/A

[25]

Tumor-induced osteomalacia

TIO

N/A

N/A

↑

Y

Low

1st

No

N/A

N/A

N/A

N/A

N/A

[249, 250]

Hypophosphatemic rickets with hypercalciuria

HHRH

241530

SLC34A3 (NPT2C)

-

Y

Elevated

1st

N/A

N/A

N/A

1st (hypercalciuria)

N/A

N/A

[251]

  1. ↑: elevated, -: normal, N: no, Y: yes, 1st: primary effect, 2nd: secondary effect (caused by conventional treatment), N/A = not assessed, MIM = Mendelian Inheritance in Man