Table 2.
Syndromic and metabolic causes of hyperinsulinaemic hypoglycaemia.
| Gene | Chromosome | Mode of inheritance | |
|---|---|---|---|
| PRENATAL AND POSTNATAL OVERGROWTH SYNDROMES | |||
| Beckwith-Wiedemann syndrome (162) |
IGF2/H19/ CDKN1C/ KCNQ1OT1 |
11p15.5-15.4 | Autosomal dominant Sporadic Paternal uniparental disomy (patUPD) |
| Sotos syndrome (163) |
NSD1 NFIX |
5q35.2-35.3 19p13.3 |
Autosomal dominant Sporadic |
| Simpson-Golabi-Behmel syndrome (164) | GPC3 | Xq26 | X-linked |
| Perlman syndrome (165) | DIS3L2 | 2q37 | Autosomal recessive |
| CHROMOSOMAL ABNORMALITY SYNDROMES | |||
| Turner syndrome (mosaic X loss) (166) | KDM6A | Xp11.2 | Sporadic |
| Trisomy 13 (167) | CDX2, IPF1 | Trisomy 13 | Sporadic |
| POSTNATAL GROWTH FAILURE SYNDROMES | |||
| Kabuki syndrome (168) |
KMT2D KDM6A |
12q13.12 Xp11.3 |
Autosomal recessive Sporadic |
| Costello syndrome (169) | HRAS | 11p15.5 | Autosomal dominant Sporadic |
| CONTIGUOUS GENE DELETION AFFECTING THE ABCC8 GENE | |||
| Usher syndrome (170) | USH1C | 11p15.1 | Autosomal recessive |
| SYNDROMES LEADING TO ABNORMALITIES IN CALCIUM HOMOEOSTASIS | |||
| Timothy syndrome (171) | CACNA1C | 3p21.1 | Autosomal dominant Sporadic |
| INSULIN RECEPTOR MUTATION | |||
| Insulin resistance syndrome (Donohue syndrome) (165) | INSR | 19p13.2 | Autosomal recessive |
| CONGENITAL DISORDERS OF GLYCOSYLATION (CDG) | |||
| CDG Type Ia (138) | PMM2 | 16p13.2-13.3 | Autosomal recessive |
| CDG Type Ib (172) | PMI | 15q22-24 | Autosomal recessive |
| CDG Type Id (173) | hALG3 | 3q27 | Autosomal recessive |
| OTHER CAUSES | |||
| Congenital central hypoventilation syndrome (174) | PHOX2B | 4p12 | Autosomal dominant Sporadic |
| Tyrosinemia type 1(175) | FAH | 15q25.1 | Autosomal recessive |
| Poland syndrome (176) | UCMA | 10p13-14 | Sporadic |
| CHARGE syndrome (177) | CHD7 | 8q12 | Autosomal dominant |