RTTCV
MCID: RTT008
MIFTS: 23

Rett Syndrome, Congenital Variant (RTTCV)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Respiratory 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 seizures, constipation and athetosis. An important gene associated with Rett Syndrome, Congenital Variant is FOXG1 (Forkhead Box G1). Affiliated tissues include eye and tongue, and related phenotypes are seizures and spasticity

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 28)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 spasticity 32 HP:0001257
3 constipation 32 HP:0002019
4 chorea 32 HP:0002072
5 eeg abnormality 32 HP:0002353
6 developmental regression 32 HP:0002376
7 scoliosis 32 HP:0002650
8 kyphosis 32 HP:0002808
9 pes planus 32 HP:0001763
10 dyskinesia 32 HP:0100660
11 neonatal hypotonia 32 HP:0001319
12 gastroesophageal reflux 32 HP:0002020
13 intellectual disability, severe 32 HP:0010864
14 irritability 32 HP:0000737
15 dystonia 32 HP:0001332
16 motor delay 32 HP:0001270
17 talipes equinovarus 32 HP:0001762
18 apraxia 32 HP:0002186
19 pachygyria 32 HP:0001302
20 hypoplasia of the corpus callosum 32 HP:0002079
21 athetosis 32 HP:0002305
22 drooling 32 HP:0002307
23 progressive microcephaly 32 HP:0000253
24 cortical gyral simplification 32 HP:0009879
25 poor eye contact 32 HP:0000817
26 tongue thrusting 32 HP:0100703
27 bruxism 32 HP:0003763
28 delayed myelination 32 HP:0012448

UMLS symptoms related to Rett Syndrome, Congenital Variant:


seizures, constipation, athetosis, muscle spasticity

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
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:

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 212)
# 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.1233G> A (p.Ala411=) single nucleotide variant Benign rs34654108 GRCh37 Chromosome 14, 29237718: 29237718
14 FOXG1 NM_005249.4(FOXG1): c.1233G> A (p.Ala411=) single nucleotide variant Benign rs34654108 GRCh38 Chromosome 14, 28768512: 28768512
15 FOXG1 NM_005249.4(FOXG1): c.218_220dupAGC (p.Gln73_Pro74insGln) duplication Conflicting interpretations of pathogenicity rs398124201 GRCh37 Chromosome 14, 29236703: 29236705
16 FOXG1 NM_005249.4(FOXG1): c.218_220dupAGC (p.Gln73_Pro74insGln) duplication Conflicting interpretations of pathogenicity rs398124201 GRCh38 Chromosome 14, 28767497: 28767499
17 FOXG1 NM_005249.4(FOXG1): c.256C> A (p.Gln86Lys) single nucleotide variant Uncertain significance rs398124202 GRCh37 Chromosome 14, 29236741: 29236741
18 FOXG1 NM_005249.4(FOXG1): c.256C> A (p.Gln86Lys) single nucleotide variant Uncertain significance rs398124202 GRCh38 Chromosome 14, 28767535: 28767535
19 FOXG1 NM_005249.4(FOXG1): c.460dupG (p.Glu154Glyfs) duplication Pathogenic rs398124204 GRCh37 Chromosome 14, 29236945: 29236945
20 FOXG1 NM_005249.4(FOXG1): c.460dupG (p.Glu154Glyfs) duplication Pathogenic rs398124204 GRCh38 Chromosome 14, 28767739: 28767739
21 FOXG1 NM_005249.4(FOXG1): c.201G> T (p.Pro67=) single nucleotide variant Likely benign rs587780944 GRCh37 Chromosome 14, 29236686: 29236686
22 FOXG1 NM_005249.4(FOXG1): c.201G> T (p.Pro67=) single nucleotide variant Likely benign rs587780944 GRCh38 Chromosome 14, 28767480: 28767480
23 FOXG1 NM_005249.4(FOXG1): c.447C> T (p.Ala149=) single nucleotide variant Conflicting interpretations of pathogenicity rs112803404 GRCh37 Chromosome 14, 29236932: 29236932
24 FOXG1 NM_005249.4(FOXG1): c.447C> T (p.Ala149=) single nucleotide variant Conflicting interpretations of pathogenicity rs112803404 GRCh38 Chromosome 14, 28767726: 28767726
25 FOXG1 NM_005249.4(FOXG1): c.489C> T (p.Gly163=) single nucleotide variant Benign/Likely benign rs375378714 GRCh37 Chromosome 14, 29236974: 29236974
26 FOXG1 NM_005249.4(FOXG1): c.489C> T (p.Gly163=) single nucleotide variant Benign/Likely benign rs375378714 GRCh38 Chromosome 14, 28767768: 28767768
27 FOXG1 NM_005249.4(FOXG1): c.1161G> A (p.Ser387=) single nucleotide variant Benign/Likely benign rs147154860 GRCh37 Chromosome 14, 29237646: 29237646
28 FOXG1 NM_005249.4(FOXG1): c.1161G> A (p.Ser387=) single nucleotide variant Benign/Likely benign rs147154860 GRCh38 Chromosome 14, 28768440: 28768440
29 FOXG1 NM_005249.4(FOXG1): c.1323C> T (p.Ser441=) single nucleotide variant Conflicting interpretations of pathogenicity rs144434028 GRCh37 Chromosome 14, 29237808: 29237808
30 FOXG1 NM_005249.4(FOXG1): c.1323C> T (p.Ser441=) single nucleotide variant Conflicting interpretations of pathogenicity rs144434028 GRCh38 Chromosome 14, 28768602: 28768602
31 FOXG1 NM_005249.4(FOXG1): c.170_179delACCCGCCGCC (p.His57Argfs) deletion Pathogenic rs587783631 GRCh37 Chromosome 14, 29236655: 29236664
32 FOXG1 NM_005249.4(FOXG1): c.170_179delACCCGCCGCC (p.His57Argfs) deletion Pathogenic rs587783631 GRCh38 Chromosome 14, 28767449: 28767458
33 FOXG1 NM_005249.4(FOXG1): c.135_136dupCC (p.Gln46Profs) duplication Pathogenic rs587783629 GRCh37 Chromosome 14, 29236620: 29236621
34 FOXG1 NM_005249.4(FOXG1): c.135_136dupCC (p.Gln46Profs) duplication Pathogenic rs587783629 GRCh38 Chromosome 14, 28767414: 28767415
35 FOXG1 NM_005249.4(FOXG1): c.209A> C (p.Gln70Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs587783633 GRCh37 Chromosome 14, 29236694: 29236694
36 FOXG1 NM_005249.4(FOXG1): c.209A> C (p.Gln70Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs587783633 GRCh38 Chromosome 14, 28767488: 28767488
37 FOXG1 NM_005249.4(FOXG1): c.209_235del27 (p.Gln70_Pro78del) deletion Conflicting interpretations of pathogenicity rs587783634 GRCh37 Chromosome 14, 29236694: 29236720
38 FOXG1 NM_005249.4(FOXG1): c.209_235del27 (p.Gln70_Pro78del) deletion Conflicting interpretations of pathogenicity rs587783634 GRCh38 Chromosome 14, 28767488: 28767514
39 FOXG1 NM_005249.4(FOXG1): c.263_278del16 (p.Arg88Profs) deletion Pathogenic rs587783635 GRCh37 Chromosome 14, 29236748: 29236763
40 FOXG1 NM_005249.4(FOXG1): c.263_278del16 (p.Arg88Profs) deletion Pathogenic rs587783635 GRCh38 Chromosome 14, 28767542: 28767557
41 FOXG1 NM_005249.4(FOXG1): c.298delC (p.Gln100Serfs) deletion Pathogenic rs587783636 GRCh37 Chromosome 14, 29236783: 29236783
42 FOXG1 NM_005249.4(FOXG1): c.298delC (p.Gln100Serfs) deletion Pathogenic rs587783636 GRCh38 Chromosome 14, 28767577: 28767577
43 FOXG1 NM_005249.4(FOXG1): c.456G> T (p.Gly152=) single nucleotide variant Conflicting interpretations of pathogenicity rs587783637 GRCh37 Chromosome 14, 29236941: 29236941
44 FOXG1 NM_005249.4(FOXG1): c.456G> T (p.Gly152=) single nucleotide variant Conflicting interpretations of pathogenicity rs587783637 GRCh38 Chromosome 14, 28767735: 28767735
45 FOXG1 NM_005249.4(FOXG1): c.563C> G (p.Ala188Gly) single nucleotide variant Uncertain significance rs587783638 GRCh37 Chromosome 14, 29237048: 29237048
46 FOXG1 NM_005249.4(FOXG1): c.563C> G (p.Ala188Gly) single nucleotide variant Uncertain significance rs587783638 GRCh38 Chromosome 14, 28767842: 28767842
47 FOXG1 NM_005249.4(FOXG1): c.672C> G (p.Gly224=) single nucleotide variant Conflicting interpretations of pathogenicity rs587783639 GRCh37 Chromosome 14, 29237157: 29237157
48 FOXG1 NM_005249.4(FOXG1): c.672C> G (p.Gly224=) single nucleotide variant Conflicting interpretations of pathogenicity rs587783639 GRCh38 Chromosome 14, 28767951: 28767951
49 FOXG1 NM_005249.4(FOXG1): c.755G> T (p.Gly252Val) single nucleotide variant Likely pathogenic rs587783640 GRCh37 Chromosome 14, 29237240: 29237240
50 FOXG1 NM_005249.4(FOXG1): c.755G> T (p.Gly252Val) single nucleotide variant Likely pathogenic rs587783640 GRCh38 Chromosome 14, 28768034: 28768034

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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