MCID: RTT008
MIFTS: 24

Rett Syndrome, Congenital Variant

Categories: Genetic diseases, Mental diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Rett Syndrome, Congenital Variant

MalaCards integrated aliases for Rett Syndrome, Congenital Variant:

Name: Rett Syndrome, Congenital Variant 53 28 13
Rett Syndrome Congenital Variant 71
Rttcv 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
all reported cases have occurred de novo
onset in the first months of life
normal birth
most patients do not learn to sit or walk
seizure onset after 3 months


HPO:

31
rett syndrome, congenital variant:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Rett Syndrome, Congenital Variant

UniProtKB/Swiss-Prot : 71 Rett syndrome congenital variant: A severe neurodevelopmental disorder with features of classic Rett syndrome but earlier onset in the first months of life. Clinical features include progressive microcephaly, hypotonia, irresponsiveness and irritability in the neonatal period, mental retardation, psychomotor regression and stereotypical movements.

MalaCards based summary : Rett Syndrome, Congenital Variant, is also known as rett syndrome congenital variant, and has symptoms including constipation, seizures and athetosis. An important gene associated with Rett Syndrome, Congenital Variant is FOXG1 (Forkhead Box G1). Affiliated tissues include eye and tongue.

OMIM : 53 The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; 312750), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (300005). (613454)

Related Diseases for Rett Syndrome, Congenital Variant

Diseases in the Rett Syndrome family:

Rett Syndrome, Congenital Variant

Symptoms & Phenotypes for Rett Syndrome, Congenital Variant

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
constipation
gastroesophageal reflux

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Eyes:
poor eye contact

Head And Neck Head:
microcephaly, postnatal, progressive

Growth Other:
slow postnatal growth

Neurologic Central Nervous System:
seizures
athetosis
dystonia
spasticity
chorea
more
Skeletal Feet:
pes planus
equinovarus

Head And Neck Mouth:
tongue thrusting
bruxism
sialorrhea

Respiratory:
abnormal breathing patterns

Skeletal Limbs:
genu valgu


Clinical features from OMIM:

613454

Human phenotypes related to Rett Syndrome, Congenital Variant:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 constipation 31 HP:0002019
2 seizures 31 HP:0001250
3 athetosis 31 HP:0002305
4 dystonia 31 HP:0001332
5 spasticity 31 HP:0001257
6 chorea 31 HP:0002072
7 eeg abnormality 31 HP:0002353
8 scoliosis 31 HP:0002650
9 kyphosis 31 HP:0002808
10 pes planus 31 HP:0001763
11 dyskinesia 31 HP:0100660
12 neonatal hypotonia 31 HP:0001319
13 gastroesophageal reflux 31 HP:0002020
14 intellectual disability, severe 31 HP:0010864
15 apraxia 31 HP:0002186
16 talipes equinovarus 31 HP:0001762
17 pachygyria 31 HP:0001302
18 motor delay 31 HP:0001270
19 hypoplasia of the corpus callosum 31 HP:0002079
20 drooling 31 HP:0002307
21 progressive microcephaly 31 HP:0000253
22 cortical gyral simplification 31 HP:0009879
23 poor eye contact 31 HP:0000817
24 tongue thrusting 31 HP:0100703
25 bruxism 31 HP:0003763
26 delayed myelination 31 HP:0012448

UMLS symptoms related to Rett Syndrome, Congenital Variant:


athetosis, constipation, muscle spasticity, seizures

Drugs & Therapeutics for Rett Syndrome, Congenital Variant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Diseases Clinical Research Network: Neurophysiological Correlates Recruiting NCT03077308

Search NIH Clinical Center for Rett Syndrome, Congenital Variant

Genetic Tests for Rett Syndrome, Congenital Variant

Genetic tests related to Rett Syndrome, Congenital Variant:

# Genetic test Affiliating Genes
1 Rett Syndrome, Congenital Variant 28 FOXG1

Anatomical Context for Rett Syndrome, Congenital Variant

MalaCards organs/tissues related to Rett Syndrome, Congenital Variant:

38
Eye, Tongue

Publications for Rett Syndrome, Congenital Variant

Variations for Rett Syndrome, Congenital Variant

UniProtKB/Swiss-Prot genetic disease variations for Rett Syndrome, Congenital Variant:

71
# Symbol AA change Variation ID SNP ID
1 FOXG1 p.Phe215Leu VAR_063885 rs267606828
2 FOXG1 p.Arg244Cys VAR_064396 rs786205009

ClinVar genetic disease variations for Rett Syndrome, Congenital Variant:

6 (show all 43)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXG1 NM_005249.4(FOXG1): c.765G> A (p.Trp255Ter) single nucleotide variant Pathogenic rs121913678 GRCh37 Chromosome 14, 29237250: 29237250
2 FOXG1 FOXG1, 1-BP DEL, 969C deletion Pathogenic
3 FOXG1 NM_005249.4(FOXG1): c.624C> G (p.Tyr208Ter) single nucleotide variant Pathogenic rs267606826 GRCh37 Chromosome 14, 29237109: 29237109
4 FOXG1 NM_005249.4(FOXG1): c.643T> C (p.Phe215Leu) single nucleotide variant Pathogenic rs267606828 GRCh37 Chromosome 14, 29237128: 29237128
5 FOXG1 NM_005249.4(FOXG1): c.924G> A (p.Trp308Ter) single nucleotide variant Pathogenic rs267606827 GRCh37 Chromosome 14, 29237409: 29237409
6 FOXG1 NM_005249.4(FOXG1): c.1200C> G (p.Tyr400Ter) single nucleotide variant Pathogenic rs138747073 GRCh37 Chromosome 14, 29237685: 29237685
7 FOXG1 FOXG1, 1-BP DUP, 460G duplication Pathogenic
8 FOXG1 NM_005249.4(FOXG1): c.460dupG (p.Glu154Glyfs) duplication Pathogenic rs398124204 GRCh37 Chromosome 14, 29236945: 29236945
9 FOXG1 NM_005249.4(FOXG1): c.135_136dupCC (p.Gln46Profs) duplication Pathogenic rs587783629 GRCh38 Chromosome 14, 28767414: 28767415
10 FOXG1 NM_005249.4(FOXG1): c.170_179delACCCGCCGCC (p.His57Argfs) deletion Pathogenic rs587783631 GRCh37 Chromosome 14, 29236655: 29236664
11 FOXG1 NM_005249.4(FOXG1): c.263_278del16 (p.Arg88Profs) deletion Pathogenic rs587783635 GRCh37 Chromosome 14, 29236748: 29236763
12 FOXG1 NM_005249.4(FOXG1): c.298delC (p.Gln100Serfs) deletion Pathogenic rs587783636 GRCh37 Chromosome 14, 29236783: 29236783
13 FOXG1 NM_005249.4(FOXG1): c.755G> T (p.Gly252Val) single nucleotide variant Pathogenic/Likely pathogenic rs587783640 GRCh37 Chromosome 14, 29237240: 29237240
14 FOXG1 NM_005249.4(FOXG1): c.757A> G (p.Asn253Asp) single nucleotide variant Pathogenic rs587783641 GRCh37 Chromosome 14, 29237242: 29237242
15 FOXG1 NM_005249.4(FOXG1): c.762C> G (p.Tyr254Ter) single nucleotide variant Pathogenic rs587783642 GRCh37 Chromosome 14, 29237247: 29237247
16 FOXG1 NM_005249.4(FOXG1): c.765G> T (p.Trp255Cys) single nucleotide variant Pathogenic rs121913678 GRCh38 Chromosome 14, 28768044: 28768044
17 FOXG1 NM_005249.4(FOXG1): c.799G> A (p.Gly267Ser) single nucleotide variant Likely pathogenic rs587783643 GRCh38 Chromosome 14, 28768078: 28768078
18 FOXG1 NM_005249.4(FOXG1): c.648_655delTTACTACC (p.Tyr217Argfs) deletion Pathogenic rs727503934 GRCh37 Chromosome 14, 29237133: 29237140
19 FOXG1 NM_005249.4(FOXG1): c.256C> T (p.Gln86Ter) single nucleotide variant Pathogenic rs398124202 GRCh37 Chromosome 14, 29236741: 29236741
20 FOXG1 NM_005249.4(FOXG1): c.256delC (p.Gln86Argfs) deletion Pathogenic rs786205001 GRCh37 Chromosome 14, 29236741: 29236741
21 FOXG1 NM_005249.4(FOXG1): c.256dupC (p.Gln86Profs) duplication Pathogenic rs786205002 GRCh38 Chromosome 14, 28767535: 28767535
22 FOXG1 NM_005249.4(FOXG1): c.505_506delGGinsT (p.Gly169Serfs) indel Pathogenic rs786205003 GRCh38 Chromosome 14, 28767784: 28767785
23 FOXG1 NM_005249.4(FOXG1): c.552dupC (p.Ser185Glnfs) duplication Pathogenic rs786205004 GRCh37 Chromosome 14, 29237037: 29237037
24 FOXG1 NM_005249.4(FOXG1): c.577G> A (p.Ala193Thr) single nucleotide variant Pathogenic rs786205005 GRCh37 Chromosome 14, 29237062: 29237062
25 FOXG1 NM_005249.4(FOXG1): c.644_645delTCinsCT (p.Phe215Ser) indel Likely pathogenic rs786204998 GRCh38 Chromosome 14, 28767923: 28767924
26 FOXG1 NM_005249.4(FOXG1): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic rs786205007 GRCh37 Chromosome 14, 29237174: 29237174
27 FOXG1 NM_005249.4(FOXG1): c.700T> C (p.Ser234Pro) single nucleotide variant Pathogenic rs786205008 GRCh38 Chromosome 14, 28767979: 28767979
28 FOXG1 NM_005249.4(FOXG1): c.730C> T (p.Arg244Cys) single nucleotide variant Pathogenic rs786205009 GRCh38 Chromosome 14, 28768009: 28768009
29 FOXG1 NM_005249.4(FOXG1): c.788_792delACGTG (p.Asp263Valfs) deletion Pathogenic rs786205010 GRCh38 Chromosome 14, 28768067: 28768071
30 FOXG1 NM_005249.4(FOXG1): c.969delC (p.Ser323Argfs) deletion Pathogenic rs786205011 GRCh38 Chromosome 14, 28768248: 28768248
31 FOXG1 NM_005249.4(FOXG1): c.1248C> G (p.Tyr416Ter) single nucleotide variant Pathogenic rs786204999 GRCh37 Chromosome 14, 29237733: 29237733
32 FOXG1 NM_005249.4(FOXG1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs869312700 GRCh37 Chromosome 14, 29237306: 29237306
33 FOXG1 NM_005249.4(FOXG1): c.553A> T (p.Ser185Cys) single nucleotide variant Likely pathogenic rs879255530 GRCh37 Chromosome 14, 29237038: 29237038
34 FOXG1 NM_005249.4(FOXG1): c.543G> T (p.Lys181Asn) single nucleotide variant Likely pathogenic rs767961672 GRCh38 Chromosome 14, 28767822: 28767822
35 FOXG1 NM_005249.4(FOXG1): c.554G> T (p.Ser185Ile) single nucleotide variant Likely pathogenic rs1057516138 GRCh38 Chromosome 14, 28767833: 28767833
36 FOXG1 NM_005249.4(FOXG1): c.460delG (p.Glu154Argfs) deletion Pathogenic rs869312717 GRCh37 Chromosome 14, 29236945: 29236945
37 FOXG1 NM_005249.4(FOXG1): c.505_506delGGinsC (p.Gly169Profs) indel Pathogenic rs786205003 GRCh38 Chromosome 14, 28767784: 28767785
38 FOXG1 NM_005249.4(FOXG1): c.713G> A (p.Cys238Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 28767992: 28767992
39 FOXG1 NM_005249.4(FOXG1): c.824G> C (p.Arg275Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 28768103: 28768103
40 FOXG1 NM_005249.4(FOXG1): c.624C> A (p.Tyr208Ter) single nucleotide variant Pathogenic rs267606826 GRCh38 Chromosome 14, 28767903: 28767903
41 FOXG1 NM_005249.4(FOXG1): c.500delA (p.Glu167Glyfs) deletion Pathogenic GRCh37 Chromosome 14, 29236985: 29236985
42 FOXG1 NM_005249.4(FOXG1): c.506delG (p.Gly169Alafs) deletion Pathogenic GRCh37 Chromosome 14, 29236991: 29236991
43 FOXG1 NM_005249.4(FOXG1): c.214C> T (p.Gln72Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 29236699: 29236699

Expression for Rett Syndrome, Congenital Variant

Search GEO for disease gene expression data for Rett Syndrome, Congenital Variant.

Pathways for Rett Syndrome, Congenital Variant

GO Terms for Rett Syndrome, Congenital Variant

Sources for Rett Syndrome, Congenital Variant

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