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Table 1 Syndromic HI, main clinical and genetics features

From: Congenital hyperinsulinism: current trends in diagnosis and therapy

Syndrome

Inheritance

Gene

DD

LGA

Sk.M.

Syndact

HH

HD&M

IM

FAC

LQT

CL

Tumors

CCA

CA

Deaf

RP

BWS

AD or S

11p15.5

 

X

  

X

     

X

    

Perlmann

AR

?

 

X

   

X

X

   

X

X

   

SGB

XL

Glypican3

X

X

X

  

X

X

   

X

X

X

X

 

CDG-Ia

AR

PMM2

X

    

X

      

X

 

X

CDG-Ib

AR

PMI

               

Kabuki

AD or S

MLL2

X

 

X

  

X

X

        

Sotos

S

NSD1

X

X

X

  

X

    

X

X

X

X

 

Timothy

AD or S

CACNA1C

X

  

X

 

X

  

X

      

Costello

AD or S

HRAS

X

    

X

   

X

X

    

Ondine

AD or AR

PHOX2B

          

X

    

Usher Ic

AR

USH1C

       

X

     

X

X

  1. The "X" indicates when the symptom can be present. AD: Autosomal Dominant; AR: Autosomal recessive; BWS: Beckwith-Wiedemann syndrome; CA: Cerebellar Atrophy or Hypoplasia; CCA: Corpus Callosum Agenesia; CDG: Congenital Disorder of Glycosylation; CL: Cutis Laxa; DD: Developmental Delay; Deaf: Deafness; FAC: Failure of Autonomic Control; HD&M: Heart Defect or Malformation; HH: Hemi Hypertrophy; IM: Intestine Malformation (Volvulus, ileal atresia, Meckel's diverticulum, intestinal malrotation); LGA: Large for Gestational Age; LQT: Long QT syndrome; RP: Retinitis Pigmentosa; SGB: Simpson-Golabi-Behmel syndrome; Sk. M: Skeletal Malformation; S: Sporadic; Syndact: syndactyly; Tumors: higher risk for tumors; XL: × linked; 11p15.5: Imprinting abnormality or paternal disomy of the 11p15.5 chromosomal region.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172