TOD
MCID: TRM011
MIFTS: 33

Terminal Osseous Dysplasia (TOD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Terminal Osseous Dysplasia

MalaCards integrated aliases for Terminal Osseous Dysplasia:

Name: Terminal Osseous Dysplasia 58 76 38 30 13 6 41
Terminal Osseous Dysplasia and Pigmentary Defects 58 76 74
Odpf Syndrome 58 76
Todpd 58 76
Odpd 58 76
Odpf 58 76
Tod 58 76
Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula; Odpf 58
Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula 58
Digital Osseous Dysplasia with Facial Pigmentary Defects and Multiple Frenula 76
Terminal Osseous Dysplasia and Pigmentary Defects; Todpd 58
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome 60
Osseous Dysplasia and Pigmentary Defects 76

Characteristics:

Orphanet epidemiological data:

60
terminal osseous dysplasia-pigmentary defects syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
x-linked dominant


Classifications:



External Ids:

OMIM 58 300244
KEGG 38 H02229
MeSH 45 D001848
ICD10 via Orphanet 35 Q87.2
UMLS via Orphanet 75 C1846129
Orphanet 60 ORPHA88630
MedGen 43 C1846129
UMLS 74 C1846129

Summaries for Terminal Osseous Dysplasia

UniProtKB/Swiss-Prot : 76 Terminal osseous dysplasia: A rare X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin and recurrent digital fibroma during infancy. A significant phenotypic variability is observed in affected females.

MalaCards based summary : Terminal Osseous Dysplasia, also known as terminal osseous dysplasia and pigmentary defects, is related to otopalatodigital syndrome, type ii and otopalatodigital syndrome, type i. An important gene associated with Terminal Osseous Dysplasia is FLNA (Filamin A). Affiliated tissues include skin, and related phenotypes are mesomelic arm shortening and mesomelic leg shortening

OMIM : 58 Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010). (300244)

Wikipedia : 77 Terminal osseous dysplasia with pigmentary defects is a cutaneous condition characterized by... more...

Related Diseases for Terminal Osseous Dysplasia

Diseases related to Terminal Osseous Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 otopalatodigital syndrome, type ii 11.3
2 otopalatodigital syndrome, type i 11.3
3 isolated growth hormone deficiency, type ia 10.1
4 dwarfism 10.1
5 fibromatosis 9.9
6 infantile digital fibromatosis 9.9
7 dyskeratosis congenita 9.5 MAGEA6 MAGEA9

Graphical network of the top 20 diseases related to Terminal Osseous Dysplasia:



Diseases related to Terminal Osseous Dysplasia

Symptoms & Phenotypes for Terminal Osseous Dysplasia

Human phenotypes related to Terminal Osseous Dysplasia:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 mesomelic arm shortening 33 occasional (7.5%) HP:0005011
2 mesomelic leg shortening 33 occasional (7.5%) HP:0004987
3 cleft palate 33 very rare (1%) HP:0000175
4 malar flattening 33 HP:0000272
5 hypertelorism 33 HP:0000316
6 low-set ears 33 HP:0000369
7 ptosis 33 HP:0000508
8 epicanthus 33 HP:0000286
9 toe clinodactyly 33 HP:0001863
10 short toe 33 HP:0001831
11 multiple joint contractures 33 HP:0002828
12 telecanthus 33 HP:0000506
13 fibroma 33 HP:0010614
14 brachydactyly 33 HP:0001156
15 iris coloboma 33 HP:0000612
16 abnormality of skin pigmentation 33 HP:0001000
17 camptodactyly of finger 33 HP:0100490
18 abnormal oral frenulum morphology 33 HP:0000190
19 localized skin lesion 33 HP:0011355
20 syndactyly 33 HP:0001159
21 camptodactyly of toe 33 HP:0001836
22 abnormal hand bone ossification 33 HP:0010660
23 abnormal foot bone ossification 33 HP:0010675

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly
syndactyly
metacarpal disorganization

Head And Neck Mouth:
cleft palate (rare)
multiple frenula
thick lips/prominent

Head And Neck Nose:
flat/depressed nasal tip

Skeletal Feet:
metatarsal disorganization

Head And Neck Eyes:
epicanthic folds
coloboma of iris
upslanting palpebral fissure
hypertelorism/telecanthus

Head And Neck Ears:
preauricular pits and tags (rare)

Skeletal Limbs:
long bone anomalies
articular abnormalities

Skin Nails Hair Skin:
pigmentary skin anomalies (on face and scalp)
digital fibromas

Clinical features from OMIM:

300244

Drugs & Therapeutics for Terminal Osseous Dysplasia

Search Clinical Trials , NIH Clinical Center for Terminal Osseous Dysplasia

Genetic Tests for Terminal Osseous Dysplasia

Genetic tests related to Terminal Osseous Dysplasia:

# Genetic test Affiliating Genes
1 Terminal Osseous Dysplasia 30 FLNA

Anatomical Context for Terminal Osseous Dysplasia

MalaCards organs/tissues related to Terminal Osseous Dysplasia:

42
Skin

Publications for Terminal Osseous Dysplasia

Articles related to Terminal Osseous Dysplasia:

(show all 15)
# Title Authors Year
1
Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas. ( 30168171 )
2018
2
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. ( 30561107 )
2018
3
Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders. ( 26061098 )
2016
4
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects. ( 26059211 )
2015
5
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. ( 25614868 )
2014
6
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. ( 20583181 )
2010
7
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. ( 20598277 )
2010
8
Terminal osseous dysplasia and pigmentary defects in a Brazilian girl. ( 18792982 )
2008
9
Terminal osseous dysplasia with pigmentary defects: clinical description of a new family. ( 17152064 )
2007
10
Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome. ( 15864382 )
2005
11
Clinical manifestations of terminal osseous dysplasia and pigmentary defects in a young girl. ( 12738953 )
2003
12
Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations. ( 10982965 )
2000
13
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. ( 10739772 )
2000
14
Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. ( 10982966 )
2000
15
A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization. ( 9800904 )
1998

Variations for Terminal Osseous Dysplasia

ClinVar genetic disease variations for Terminal Osseous Dysplasia:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.5217G> A (p.Thr1739=) single nucleotide variant Pathogenic rs387907371 GRCh37 Chromosome X, 153583193: 153583193
2 FLNA NM_001110556.1(FLNA): c.5217G> A (p.Thr1739=) single nucleotide variant Pathogenic rs387907371 GRCh38 Chromosome X, 154354825: 154354825
3 FLNA NM_001110556.1(FLNA): c.3323G> A (p.Cys1108Tyr) single nucleotide variant Uncertain significance rs371677498 GRCh37 Chromosome X, 153588840: 153588840
4 FLNA NM_001110556.1(FLNA): c.3323G> A (p.Cys1108Tyr) single nucleotide variant Uncertain significance rs371677498 GRCh38 Chromosome X, 154360472: 154360472
5 FLNA NM_001456.3(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 GRCh37 Chromosome X, 153595186: 153595186
6 FLNA NM_001456.3(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 GRCh38 Chromosome X, 154366818: 154366818
7 FLNA NM_001456.3(FLNA): c.6695A> G (p.Lys2232Arg) single nucleotide variant Uncertain significance rs797045581 GRCh38 Chromosome X, 154352231: 154352231
8 FLNA NM_001456.3(FLNA): c.6695A> G (p.Lys2232Arg) single nucleotide variant Uncertain significance rs797045581 GRCh37 Chromosome X, 153580599: 153580599
9 FLNA NM_001456.3(FLNA): c.569G> A (p.Arg190Gln) single nucleotide variant Uncertain significance rs782447567 GRCh37 Chromosome X, 153596263: 153596263
10 FLNA NM_001456.3(FLNA): c.569G> A (p.Arg190Gln) single nucleotide variant Uncertain significance rs782447567 GRCh38 Chromosome X, 154367895: 154367895
11 FLNA NM_001456.3(FLNA): c.7604G> A (p.Cys2535Tyr) single nucleotide variant Uncertain significance rs201762017 GRCh37 Chromosome X, 153577858: 153577858
12 FLNA NM_001456.3(FLNA): c.7604G> A (p.Cys2535Tyr) single nucleotide variant Uncertain significance rs201762017 GRCh38 Chromosome X, 154349490: 154349490
13 FLNA NM_001456.3(FLNA): c.2254G> A (p.Val752Ile) single nucleotide variant Uncertain significance rs1297013254 GRCh37 Chromosome X, 153592416: 153592416
14 FLNA NM_001456.3(FLNA): c.2254G> A (p.Val752Ile) single nucleotide variant Uncertain significance rs1297013254 GRCh38 Chromosome X, 154364048: 154364048
15 FLNA NM_001456.3(FLNA): c.6701G> A (p.Arg2234Gln) single nucleotide variant Uncertain significance rs781984274 GRCh37 Chromosome X, 153580593: 153580593
16 FLNA NM_001456.3(FLNA): c.6701G> A (p.Arg2234Gln) single nucleotide variant Uncertain significance rs781984274 GRCh38 Chromosome X, 154352225: 154352225
17 FLNA NM_001456.3(FLNA): c.6839G> A (p.Arg2280His) single nucleotide variant Uncertain significance rs782275601 GRCh38 Chromosome X, 154351928: 154351928
18 FLNA NM_001456.3(FLNA): c.6839G> A (p.Arg2280His) single nucleotide variant Uncertain significance rs782275601 GRCh37 Chromosome X, 153580296: 153580296
19 FLNA NM_001456.3(FLNA): c.6352C> T (p.Pro2118Ser) single nucleotide variant Uncertain significance rs782400832 GRCh37 Chromosome X, 153581143: 153581143
20 FLNA NM_001456.3(FLNA): c.6352C> T (p.Pro2118Ser) single nucleotide variant Uncertain significance rs782400832 GRCh38 Chromosome X, 154352775: 154352775
21 FLNA NM_001456.3(FLNA): c.546G> C (p.Gln182His) single nucleotide variant Uncertain significance rs1557179648 GRCh37 Chromosome X, 153596286: 153596286
22 FLNA NM_001456.3(FLNA): c.546G> C (p.Gln182His) single nucleotide variant Uncertain significance rs1557179648 GRCh38 Chromosome X, 154367918: 154367918
23 FLNA NM_001456.3(FLNA): c.2974A> G (p.Thr992Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154361541: 154361541
24 FLNA NM_001456.3(FLNA): c.2974A> G (p.Thr992Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153589909: 153589909
25 FLNA NM_001110556.2(FLNA): c.4314C> G (p.Phe1438Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153587512: 153587512
26 FLNA NM_001110556.2(FLNA): c.4314C> G (p.Phe1438Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154359144: 154359144
27 FLNA NM_001110556.2(FLNA): c.2364G> A (p.Glu788=) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153591069: 153591069
28 FLNA NM_001110556.2(FLNA): c.2364G> A (p.Glu788=) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154362701: 154362701
29 FLNA NM_001110556.2(FLNA): c.1204A> G (p.Thr402Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153594700: 153594700
30 FLNA NM_001110556.2(FLNA): c.1204A> G (p.Thr402Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154366332: 154366332
31 FLNA NM_001110556.2(FLNA): c.494A> G (p.Lys165Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153596338: 153596338
32 FLNA NM_001110556.2(FLNA): c.494A> G (p.Lys165Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154367970: 154367970

Expression for Terminal Osseous Dysplasia

Search GEO for disease gene expression data for Terminal Osseous Dysplasia.

Pathways for Terminal Osseous Dysplasia

GO Terms for Terminal Osseous Dysplasia

Cellular components related to Terminal Osseous Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular_component GO:0005575 8.8 MAGEA6 MAGEA9 MAGEA9B

Biological processes related to Terminal Osseous Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 biological_process GO:0008150 8.8 MAGEA6 MAGEA9 MAGEA9B

Molecular functions related to Terminal Osseous Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 molecular_function GO:0003674 8.8 MAGEA6 MAGEA9 MAGEA9B

Sources for Terminal Osseous Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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