Hypoinsulinemic hypoglycemia and body hemihypertrophy

General Information (adopted from Orphanet):

Synonyms, Signs: HIHGHH
Number of Symptoms 16
OrphanetNr: 293964
OMIM Id: 240900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare endocrine disease
 -Rare endocrine disease
Rare genetic endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001250) Seizures 1245 / 7739
2
 (HPO:0002173) Hypoglycemic seizures 19 / 7739
3
 (HPO:0000771) Gynecomastia 53 / 7739
4
 (HPO:0001528) Hemihypertrophy 13 / 7739
5
 (HPO:0001520) Large for gestational age 34 / 7739
6
 (HPO:0001956) Truncal obesity 39 / 7739
7
 (HPO:0001998) Neonatal hypoglycemia 22 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) No elevation of free fatty acids 1 / 7739
10
 (OMIM) Reduced consciousness, hypoglycemia-related 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Low serum levels of ketone bodies 1 / 7739
13
 (OMIM) Left-sided hemihypertrophy of face 1 / 7739
14
 (OMIM) Low serum levels of branched-chain amino acids 1 / 7739
15
 (OMIM) Hemihypertrophy, left-sided 1 / 7739
16
 (OMIM) Hypoinsulinemic hypoglycemia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hansson and Redin (1963) reported 2 sisters, born of healthy first-cousin parents, who were macrosomic at birth, developed seizures, and died at 35 hours and 65 hours of life. The younger sister weighed 5,280 g at birth and ...
Molecular genetics OMIM Hussain et al. (2011) studied 3 patients with hypoinsulinemic hypoglycemia and hemihypertrophy who were negative for mutation in the genes encoding preproinsulin (INS; 176730), insulin-like growth factors 1 (IGF1; 147440) and 2 (IGF2; 147470), and their receptors (ISNR, ...