Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD)
Description
Hirschsprung disease (HSCR) is a relatively common cause of intestinal obstruction in the newborn. It is characterized by absence of ganglion cells in the distal bowel and extending proximally for varying distances. Recently, several genes have been identified to be associated with HSCR. The functions of the gene products include transcription factors regulating gene expression in neural crest cells and in participants in signaling pathways between intestinal mesenchymal cells and neural crest cells.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the digestive tract
LB16 Structural developmental anomalies of large intestine
H00910 Hirschsprung disease
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H00910 Hirschsprung disease
Endocrine system
nt06325 Hormone/cytokine signaling
H00910 Hirschsprung disease
Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler BM, Hamosh A, Meijers C, Buys CH
Title
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.
Waardenburg syndrome (WS) is a rare autosomal dominant inherited disorder characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. Four subtypes of WS have been classified based on the presence or absence of additional symptoms. WS 1 and WS 2 are distinguished by the presence or absence of dystopia canthorum, respectively. WS 3 is similar to WS 1 with additional musculoskeletal abnormalities. WS 4 is characterized by the presence of an aganglionic megacolon. WS is associated with six genes of melanocytic differentiation: PAX3, MITF, SNAI2, SOX10, EDNRB, and EDN3.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Genetic and developmental disorders affecting the skin
EC23 Genetic disorders of skin pigmentation
H00759 Waardenburg syndrome
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H00759 Waardenburg syndrome
Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M
Title
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
ABCD syndrome (ABCDS) is defined as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness. It is inherited as an autosomal recessive trait.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2H Syndromic genetic deafness
H00823 ABCD syndrome
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H00823 ABCD syndrome
Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M
Title
Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome.
