KEGG DISEASE: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies

KEGG

DISEASE: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies

Entry

H03011                      Disease

Name

Congenital hypotonia, epilepsy, developmental delay, and digital anomalies

Description

Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) is a neurodevelopmental disorder characterized by severe cognitive impairment, hypotonia, a distinctive facial gestalt, and variable congenital anomalies. It is caused by mutations in the ATN1 gene that disrupt a highly conserved 16-amino-acid HX repeat motif. ATN1 encodes atrophin-1, a member of an evolutionarily conserved class of transcriptional corepressors involved in nuclear signaling.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H03011  Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
Pathway-based classification of diseases [BR:br08402]
Cellular processes
  nt06549  Cadherin signaling
   H03011  Congenital hypotonia, epilepsy, developmental delay, and digital anomalies

Pathway

hsa04519 Cadherin signaling

Network

nt06549 Cadherin signaling

Gene

ATN1 [HSA:1822] [KO:K05626]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko L, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST

Title

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Journal

Am J Hum Genet 104:542-552 (2019)
DOI:10.1016/j.ajhg.2019.01.013

LinkDB

» Japanese version

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