MCID: TMP011
MIFTS: 31

Temple-Baraitser Syndrome

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

Aliases & Classifications for Temple-Baraitser Syndrome

MalaCards integrated aliases for Temple-Baraitser Syndrome:

Name: Temple-Baraitser Syndrome 54 24 56 71 29 69
Tmbts 24 56 71
Severe Mental Retardation and Absent Nails of Hallux and Pollex 50 71
Severe Intellectual Disability-Aplasia/hypoplasia of Thumb and Hallux Syndrome 56
Mental Retardation, Severe, and Absent Nails of Hallux and Pollex 71
Mental Retardation, Severe and Absent Nails of Hallux and Pollex 24
Tbs 71

Characteristics:

Orphanet epidemiological data:

56
temple-baraitser syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
most mutations occur de novo


HPO:

32
temple-baraitser syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Temple-Baraitser Syndrome

OMIM : 54
Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Most patients also have seizures; various dysmorphic facial features have been reported (summary by Jacquinet et al., 2010). (611816)

MalaCards based summary : Temple-Baraitser Syndrome, also known as tmbts, is related to tuberculosis and tuberculous meningitis, and has symptoms including wide mouth, intellectual disability, severe and seizures. An important gene associated with Temple-Baraitser Syndrome is KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 71 Temple-Baraitser syndrome: A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism.

Related Diseases for Temple-Baraitser Syndrome

Graphical network of the top 20 diseases related to Temple-Baraitser Syndrome:



Diseases related to Temple-Baraitser Syndrome

Symptoms & Phenotypes for Temple-Baraitser Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
delayed psychomotor development
seizures
mental retardation, severe

Head And Neck- Mouth:
wide mouth
downturned corners of the mouth
thick vermilion border of the lips

Head And Neck- Eyes:
epicanthal folds
hypertelorism
poor visual contact

Skeletal- Feet:
hypoplasia of terminal phalanges
abnormal secondary ossification center of distal phalanges of thumbs
broad halluces
long great toes
central translucency of distal phalanges of halluces

Head And Neck- Nose:
broad nose
depressed nasal bridge
thick nasal alae

Skeletal- Hands:
broad thumbs
adducted thumbs
proximal implantation of thumb
hypoplasia of terminal phalanges
central translucency of distal phalanges of thumbs
more
Head And Neck- Face:
myopathic facies
long philtrum
flat forehead

Skin Nails & Hair- Nails:
hypoplastic/aplastic thumb nails
hypoplastic/aplastic nails of halluces


Clinical features from OMIM:

611816

Human phenotypes related to Temple-Baraitser Syndrome:

32 (show all 22)
id Description HPO Frequency HPO Source Accession
1 wide mouth 32 HP:0000154
2 intellectual disability, severe 32 HP:0010864
3 seizures 32 HP:0001250
4 depressed nasal bridge 32 HP:0005280
5 hypertelorism 32 HP:0000316
6 myopathic facies 32 HP:0002058
7 global developmental delay 32 HP:0001263
8 long philtrum 32 HP:0000343
9 broad hallux 32 HP:0010055
10 flat forehead 32 HP:0004425
11 thick nasal alae 32 HP:0009928
12 pseudoepiphysis of the thumb 32 HP:0009693
13 epicanthus 32 HP:0000286
14 muscular hypotonia 32 HP:0001252
15 downturned corners of mouth 32 HP:0002714
16 wide nose 32 HP:0000445
17 broad thumb 32 HP:0011304
18 adducted thumb 32 HP:0001181
19 intellectual disability, progressive 32 HP:0006887
20 short distal phalanx of finger 32 HP:0009882
21 hypoplastic thumbnail 32 HP:0012553
22 absent nail of hallux 32 HP:0012555

UMLS symptoms related to Temple-Baraitser Syndrome:


seizures

Drugs & Therapeutics for Temple-Baraitser Syndrome

Search Clinical Trials , NIH Clinical Center for Temple-Baraitser Syndrome

Genetic Tests for Temple-Baraitser Syndrome

Genetic tests related to Temple-Baraitser Syndrome:

id Genetic test Affiliating Genes
1 Temple-Baraitser Syndrome 29 24 KCNH1

Anatomical Context for Temple-Baraitser Syndrome

MalaCards organs/tissues related to Temple-Baraitser Syndrome:

39
Skin

Publications for Temple-Baraitser Syndrome

Articles related to Temple-Baraitser Syndrome:

id Title Authors Year
1
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? ( 27282200 )
2016
2
Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes. ( 25629734 )
2015
3
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. ( 25420144 )
2015
4
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. ( 25711872 )
2015
5
Report of a patient with Temple-Baraitser syndrome. ( 24357613 )
2014
6
Temple-Baraitser syndrome: a rare and possibly unrecognized condition. ( 20683999 )
2010
7
A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome). ( 18203178 )
2008

Variations for Temple-Baraitser Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Temple-Baraitser Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 KCNH1 p.Lys217Asn VAR_072612 rs727502822
2 KCNH1 p.Leu489Phe VAR_072613
3 KCNH1 p.Ile494Val VAR_072614 rs727502819
4 KCNH1 p.Gln503Arg VAR_072615 rs727502821

ClinVar genetic disease variations for Temple-Baraitser Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNH1 NM_172362.2(KCNH1): c.1480A> G (p.Ile494Val) single nucleotide variant Pathogenic rs727502819 GRCh37 Chromosome 1, 210977491: 210977491
2 KCNH1 NM_172362.2(KCNH1): c.1546C> T (p.Leu516Phe) single nucleotide variant Pathogenic rs727502820 GRCh37 Chromosome 1, 210977425: 210977425
3 KCNH1 NM_172362.2(KCNH1): c.1508A> G (p.Gln503Arg) single nucleotide variant Pathogenic rs727502821 GRCh37 Chromosome 1, 210977463: 210977463
4 KCNH1 NM_172362.2(KCNH1): c.651G> C (p.Lys217Asn) single nucleotide variant Pathogenic rs727502822 GRCh37 Chromosome 1, 211192506: 211192506

Expression for Temple-Baraitser Syndrome

Search GEO for disease gene expression data for Temple-Baraitser Syndrome.

Pathways for Temple-Baraitser Syndrome

GO Terms for Temple-Baraitser Syndrome

Sources for Temple-Baraitser Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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