MRX61
MCID: TNN015
MIFTS: 23

Tonne-Kalscheuer Syndrome (MRX61)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Tonne-Kalscheuer Syndrome

MalaCards integrated aliases for Tonne-Kalscheuer Syndrome:

Name: Tonne-Kalscheuer Syndrome 57
Mental Retardation, X-Linked 61 57 75 29 6
Mrx61 57 75
Intellectual Developmental Disorder with or Without Hand and Foot Anomalies, Genital Anomalies, or Congenital Diaphragmatic Hernia 57
Mental Retardation, X-Linked 61; Mrx61 57
Tokas 57

Characteristics:

OMIM:

57
Miscellaneous:
onset in utero or at birth
some patients die in the perinatal period due to congenital diaphragmatic hernia
carrier females may have mild distal skeletal abnormalities or premature ovarian insufficiency

Inheritance:
x-linked


HPO:

32
tonne-kalscheuer syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Tonne-Kalscheuer Syndrome

OMIM : 57 Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities (summary by Frints et al., 2018). Also see Fryns syndrome (600302), an autosomal recessive disorder with overlapping features. (300978)

MalaCards based summary : Tonne-Kalscheuer Syndrome, is also known as mental retardation, x-linked 61. An important gene associated with Tonne-Kalscheuer Syndrome is RLIM (Ring Finger Protein, LIM Domain Interacting). Affiliated tissues include lung, brain and heart, and related phenotypes are hypertelorism and intellectual disability

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 61: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

Related Diseases for Tonne-Kalscheuer Syndrome

Symptoms & Phenotypes for Tonne-Kalscheuer Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
hypotelorism
downslanting palpebral fissures
straight lateral eyebrows

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
anxiety
shyness
aggressive behavior
autistic features
more
Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia
broad forehead
malar hypoplasia
long narrow face

Skeletal Hands:
brachydactyly
broad thumbs

Abdomen Gastrointestinal:
velopharyngeal insufficiency
swallowing difficulties

Cardiovascular Heart:
congenital heart defects (in some patients)

Head And Neck Mouth:
small mouth
downturned corners of the mouth

Skin Nails Hair Nails:
nail hypoplasia
abnormal nails

Chest Diaphragm:
congenital diaphragmatic hernia (in some patients)

Neurologic Central Nervous System:
spasticity
tremor
hyperreflexia
poor speech
broad-based gait
more
Skeletal Feet:
pes planus

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
small penis
small testes

Skin Nails Hair Hair:
fine hair
receding hairline

Head And Neck Nose:
broad nasal bridge
high nasal bridge
large nose

Muscle Soft Tissue:
hypotonia

Growth Other:
growth retardation
lean build

Respiratory Lung:
lung hypoplasia (in some patients)

Endocrine Features:
female carriers may have premature ovarian insufficiency


Clinical features from OMIM:

300978

Human phenotypes related to Tonne-Kalscheuer Syndrome:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 intellectual disability 32 HP:0001249
3 behavioral abnormality 32 HP:0000708
4 global developmental delay 32 HP:0001263
5 wide nasal bridge 32 HP:0000431
6 microcephaly 32 HP:0000252
7 micrognathia 32 HP:0000347
8 feeding difficulties 32 HP:0011968
9 cryptorchidism 32 HP:0000028
10 broad forehead 32 HP:0000337
11 fine hair 32 HP:0002213
12 prominent nose 32 HP:0000448
13 poor speech 32 HP:0002465

Drugs & Therapeutics for Tonne-Kalscheuer Syndrome

Search Clinical Trials , NIH Clinical Center for Tonne-Kalscheuer Syndrome

Genetic Tests for Tonne-Kalscheuer Syndrome

Genetic tests related to Tonne-Kalscheuer Syndrome:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 61 29 RLIM

Anatomical Context for Tonne-Kalscheuer Syndrome

MalaCards organs/tissues related to Tonne-Kalscheuer Syndrome:

41
Lung, Brain, Heart, Testes

Publications for Tonne-Kalscheuer Syndrome

Variations for Tonne-Kalscheuer Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Tonne-Kalscheuer Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 RLIM p.Tyr356Cys VAR_077826 rs786205133
2 RLIM p.Arg387Cys VAR_077827
3 RLIM p.Pro587Arg VAR_077828
4 RLIM p.Arg599Cys VAR_077829

ClinVar genetic disease variations for Tonne-Kalscheuer Syndrome:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 RLIM NM_183353.2(RLIM): c.1067A> G (p.Tyr356Cys) single nucleotide variant Pathogenic/Likely pathogenic rs786205133 GRCh37 Chromosome X, 73812083: 73812083
2 RLIM NM_183353.2(RLIM): c.1067A> G (p.Tyr356Cys) single nucleotide variant Pathogenic/Likely pathogenic rs786205133 GRCh38 Chromosome X, 74592248: 74592248
3 RLIM RLIM, PRO587ARG single nucleotide variant Pathogenic
4 RLIM RLIM, ARG387CYS single nucleotide variant Pathogenic
5 RLIM RLIM, ARG599CYS single nucleotide variant Pathogenic
6 RLIM NM_016120.3(RLIM): c.1792G> A (p.Asp598Asn) single nucleotide variant Pathogenic GRCh38 Chromosome X, 74591523: 74591523
7 RLIM NM_016120.3(RLIM): c.1792G> A (p.Asp598Asn) single nucleotide variant Pathogenic GRCh37 Chromosome X, 73811358: 73811358
8 RLIM NM_016120.3(RLIM): c.1093C> T (p.Arg365Cys) single nucleotide variant Pathogenic GRCh38 Chromosome X, 74592222: 74592222
9 RLIM NM_016120.3(RLIM): c.1093C> T (p.Arg365Cys) single nucleotide variant Pathogenic GRCh37 Chromosome X, 73812057: 73812057
10 RLIM NM_016120.3(RLIM): c.1831C> T (p.Arg611Cys) single nucleotide variant Pathogenic GRCh37 Chromosome X, 73811319: 73811319
11 RLIM NM_016120.3(RLIM): c.1831C> T (p.Arg611Cys) single nucleotide variant Pathogenic GRCh38 Chromosome X, 74591484: 74591484

Expression for Tonne-Kalscheuer Syndrome

Search GEO for disease gene expression data for Tonne-Kalscheuer Syndrome.

Pathways for Tonne-Kalscheuer Syndrome

GO Terms for Tonne-Kalscheuer Syndrome

Sources for Tonne-Kalscheuer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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