MCID: RTT008
MIFTS: 23

Rett Syndrome, Congenital Variant

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

Aliases & Classifications for Rett Syndrome, Congenital Variant

MalaCards integrated aliases for Rett Syndrome, Congenital Variant:

Name: Rett Syndrome, Congenital Variant 57 29 13 6 40
Rett Syndrome Congenital Variant 75
Rttcv 75

Characteristics:

OMIM:

57
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:

32
rett syndrome, congenital variant:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Rett Syndrome, Congenital Variant

UniProtKB/Swiss-Prot : 75 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 athetosis, constipation and muscle spasticity. An important gene associated with Rett Syndrome, Congenital Variant is FOXG1 (Forkhead Box G1). Affiliated tissues include tongue and eye, and related phenotypes are progressive microcephaly and poor eye contact

OMIM : 57 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:

57
Neurologic Central Nervous System:
seizures
spasticity
chorea
dyskinesia
neonatal hypotonia
more
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Eyes:
poor eye contact

Head And Neck Head:
microcephaly, postnatal, progressive

Growth Other:
slow postnatal growth

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

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:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 HP:0000253
2 poor eye contact 32 HP:0000817
3 seizures 32 HP:0001250
4 spasticity 32 HP:0001257
5 motor delay 32 HP:0001270
6 pachygyria 32 HP:0001302
7 neonatal hypotonia 32 HP:0001319
8 dystonia 32 HP:0001332
9 talipes equinovarus 32 HP:0001762
10 pes planus 32 HP:0001763
11 constipation 32 HP:0002019
12 gastroesophageal reflux 32 HP:0002020
13 chorea 32 HP:0002072
14 hypoplasia of the corpus callosum 32 HP:0002079
15 apraxia 32 HP:0002186
16 athetosis 32 HP:0002305
17 drooling 32 HP:0002307
18 eeg abnormality 32 HP:0002353
19 scoliosis 32 HP:0002650
20 kyphosis 32 HP:0002808
21 bruxism 32 HP:0003763
22 cortical gyral simplification 32 HP:0009879
23 intellectual disability, severe 32 HP:0010864
24 delayed myelination 32 HP:0012448
25 dyskinesia 32 HP:0100660
26 tongue thrusting 32 HP:0100703

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 29 FOXG1

Anatomical Context for Rett Syndrome, Congenital Variant

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

41
Tongue, Eye

Publications for Rett Syndrome, Congenital Variant

Variations for Rett Syndrome, Congenital Variant

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

75
# 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 top 50) (show all 168)
# 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 NM_005249.4(FOXG1): c.765G> A (p.Trp255Ter) single nucleotide variant Pathogenic rs121913678 GRCh38 Chromosome 14, 28768044: 28768044
3 FOXG1 FOXG1, 1-BP DEL, 969C deletion Pathogenic
4 FOXG1 NM_005249.4(FOXG1): c.624C> G (p.Tyr208Ter) single nucleotide variant Pathogenic rs267606826 GRCh37 Chromosome 14, 29237109: 29237109
5 FOXG1 NM_005249.4(FOXG1): c.624C> G (p.Tyr208Ter) single nucleotide variant Pathogenic rs267606826 GRCh38 Chromosome 14, 28767903: 28767903
6 FOXG1 NM_005249.4(FOXG1): c.643T> C (p.Phe215Leu) single nucleotide variant Pathogenic rs267606828 GRCh37 Chromosome 14, 29237128: 29237128
7 FOXG1 NM_005249.4(FOXG1): c.643T> C (p.Phe215Leu) single nucleotide variant Pathogenic rs267606828 GRCh38 Chromosome 14, 28767922: 28767922
8 FOXG1 NM_005249.4(FOXG1): c.924G> A (p.Trp308Ter) single nucleotide variant Pathogenic rs267606827 GRCh37 Chromosome 14, 29237409: 29237409
9 FOXG1 NM_005249.4(FOXG1): c.924G> A (p.Trp308Ter) single nucleotide variant Pathogenic rs267606827 GRCh38 Chromosome 14, 28768203: 28768203
10 FOXG1 NM_005249.4(FOXG1): c.1200C> G (p.Tyr400Ter) single nucleotide variant Pathogenic rs138747073 GRCh37 Chromosome 14, 29237685: 29237685
11 FOXG1 NM_005249.4(FOXG1): c.1200C> G (p.Tyr400Ter) single nucleotide variant Pathogenic rs138747073 GRCh38 Chromosome 14, 28768479: 28768479
12 FOXG1 FOXG1, 1-BP DUP, 460G duplication Pathogenic
13 FOXG1 NM_005249.4(FOXG1): c.460dupG (p.Glu154Glyfs) duplication Pathogenic rs398124204 GRCh37 Chromosome 14, 29236945: 29236945
14 FOXG1 NM_005249.4(FOXG1): c.460dupG (p.Glu154Glyfs) duplication Pathogenic rs398124204 GRCh38 Chromosome 14, 28767739: 28767739
15 FOXG1 NM_005249.4(FOXG1): c.135_136dupCC (p.Gln46Profs) duplication Pathogenic rs587783629 GRCh37 Chromosome 14, 29236620: 29236621
16 FOXG1 NM_005249.4(FOXG1): c.135_136dupCC (p.Gln46Profs) duplication Pathogenic rs587783629 GRCh38 Chromosome 14, 28767414: 28767415
17 FOXG1 NM_005249.4(FOXG1): c.170_179delACCCGCCGCC (p.His57Argfs) deletion Pathogenic rs587783631 GRCh37 Chromosome 14, 29236655: 29236664
18 FOXG1 NM_005249.4(FOXG1): c.170_179delACCCGCCGCC (p.His57Argfs) deletion Pathogenic rs587783631 GRCh38 Chromosome 14, 28767449: 28767458
19 FOXG1 NM_005249.4(FOXG1): c.209A> C (p.Gln70Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs587783633 GRCh37 Chromosome 14, 29236694: 29236694
20 FOXG1 NM_005249.4(FOXG1): c.209A> C (p.Gln70Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs587783633 GRCh38 Chromosome 14, 28767488: 28767488
21 FOXG1 NM_005249.4(FOXG1): c.209_235del27 (p.Gln70_Pro78del) deletion Conflicting interpretations of pathogenicity rs587783634 GRCh37 Chromosome 14, 29236694: 29236720
22 FOXG1 NM_005249.4(FOXG1): c.209_235del27 (p.Gln70_Pro78del) deletion Conflicting interpretations of pathogenicity rs587783634 GRCh38 Chromosome 14, 28767488: 28767514
23 FOXG1 NM_005249.4(FOXG1): c.263_278del16 (p.Arg88Profs) deletion Pathogenic rs587783635 GRCh37 Chromosome 14, 29236748: 29236763
24 FOXG1 NM_005249.4(FOXG1): c.263_278del16 (p.Arg88Profs) deletion Pathogenic rs587783635 GRCh38 Chromosome 14, 28767542: 28767557
25 FOXG1 NM_005249.4(FOXG1): c.298delC (p.Gln100Serfs) deletion Pathogenic rs587783636 GRCh37 Chromosome 14, 29236783: 29236783
26 FOXG1 NM_005249.4(FOXG1): c.298delC (p.Gln100Serfs) deletion Pathogenic rs587783636 GRCh38 Chromosome 14, 28767577: 28767577
27 FOXG1 NM_005249.4(FOXG1): c.456G> T (p.Gly152=) single nucleotide variant Conflicting interpretations of pathogenicity rs587783637 GRCh37 Chromosome 14, 29236941: 29236941
28 FOXG1 NM_005249.4(FOXG1): c.456G> T (p.Gly152=) single nucleotide variant Conflicting interpretations of pathogenicity rs587783637 GRCh38 Chromosome 14, 28767735: 28767735
29 FOXG1 NM_005249.4(FOXG1): c.563C> G (p.Ala188Gly) single nucleotide variant Uncertain significance rs587783638 GRCh37 Chromosome 14, 29237048: 29237048
30 FOXG1 NM_005249.4(FOXG1): c.563C> G (p.Ala188Gly) single nucleotide variant Uncertain significance rs587783638 GRCh38 Chromosome 14, 28767842: 28767842
31 FOXG1 NM_005249.4(FOXG1): c.672C> G (p.Gly224=) single nucleotide variant Conflicting interpretations of pathogenicity rs587783639 GRCh37 Chromosome 14, 29237157: 29237157
32 FOXG1 NM_005249.4(FOXG1): c.672C> G (p.Gly224=) single nucleotide variant Conflicting interpretations of pathogenicity rs587783639 GRCh38 Chromosome 14, 28767951: 28767951
33 FOXG1 NM_005249.4(FOXG1): c.755G> T (p.Gly252Val) single nucleotide variant Likely pathogenic rs587783640 GRCh37 Chromosome 14, 29237240: 29237240
34 FOXG1 NM_005249.4(FOXG1): c.755G> T (p.Gly252Val) single nucleotide variant Likely pathogenic rs587783640 GRCh38 Chromosome 14, 28768034: 28768034
35 FOXG1 NM_005249.4(FOXG1): c.757A> G (p.Asn253Asp) single nucleotide variant Pathogenic rs587783641 GRCh37 Chromosome 14, 29237242: 29237242
36 FOXG1 NM_005249.4(FOXG1): c.757A> G (p.Asn253Asp) single nucleotide variant Pathogenic rs587783641 GRCh38 Chromosome 14, 28768036: 28768036
37 FOXG1 NM_005249.4(FOXG1): c.762C> G (p.Tyr254Ter) single nucleotide variant Pathogenic rs587783642 GRCh37 Chromosome 14, 29237247: 29237247
38 FOXG1 NM_005249.4(FOXG1): c.762C> G (p.Tyr254Ter) single nucleotide variant Pathogenic rs587783642 GRCh38 Chromosome 14, 28768041: 28768041
39 FOXG1 NM_005249.4(FOXG1): c.765G> T (p.Trp255Cys) single nucleotide variant Pathogenic rs121913678 GRCh37 Chromosome 14, 29237250: 29237250
40 FOXG1 NM_005249.4(FOXG1): c.765G> T (p.Trp255Cys) single nucleotide variant Pathogenic rs121913678 GRCh38 Chromosome 14, 28768044: 28768044
41 FOXG1 NM_005249.4(FOXG1): c.799G> A (p.Gly267Ser) single nucleotide variant Likely pathogenic rs587783643 GRCh37 Chromosome 14, 29237284: 29237284
42 FOXG1 NM_005249.4(FOXG1): c.799G> A (p.Gly267Ser) single nucleotide variant Likely pathogenic rs587783643 GRCh38 Chromosome 14, 28768078: 28768078
43 FOXG1 NM_005249.4(FOXG1): c.1086G> A (p.Leu362=) single nucleotide variant Conflicting interpretations of pathogenicity rs570981209 GRCh37 Chromosome 14, 29237571: 29237571
44 FOXG1 NM_005249.4(FOXG1): c.1086G> A (p.Leu362=) single nucleotide variant Conflicting interpretations of pathogenicity rs570981209 GRCh38 Chromosome 14, 28768365: 28768365
45 FOXG1 NM_005249.4(FOXG1): c.670G> A (p.Gly224Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727503935 GRCh37 Chromosome 14, 29237155: 29237155
46 FOXG1 NM_005249.4(FOXG1): c.670G> A (p.Gly224Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727503935 GRCh38 Chromosome 14, 28767949: 28767949
47 FOXG1 NM_005249.4(FOXG1): c.206C> A (p.Pro69Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727503933 GRCh37 Chromosome 14, 29236691: 29236691
48 FOXG1 NM_005249.4(FOXG1): c.206C> A (p.Pro69Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727503933 GRCh38 Chromosome 14, 28767485: 28767485
49 FOXG1 NM_005249.4(FOXG1): c.234_236dupGCC (p.Pro80_Ala81insPro) duplication Conflicting interpretations of pathogenicity rs786200975 GRCh37 Chromosome 14, 29236719: 29236721
50 FOXG1 NM_005249.4(FOXG1): c.234_236dupGCC (p.Pro80_Ala81insPro) duplication Conflicting interpretations of pathogenicity rs786200975 GRCh38 Chromosome 14, 28767513: 28767515

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

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