TOD
MCID: TRM011
MIFTS: 36

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 57 74 37 29 13 6 40
Terminal Osseous Dysplasia and Pigmentary Defects 57 74 72
Odpf Syndrome 57 74
Todpd 57 74
Odpd 57 74
Odpf 57 74
Tod 57 74
Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula; Odpf 57
Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula 57
Digital Osseous Dysplasia with Facial Pigmentary Defects and Multiple Frenula 74
Terminal Osseous Dysplasia and Pigmentary Defects; Todpd 57
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome 59
Osseous Dysplasia and Pigmentary Defects 74

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
x-linked dominant


HPO:

32
terminal osseous dysplasia:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 57 300244
KEGG 37 H02229
MeSH 44 D001848
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 73 C1846129
Orphanet 59 ORPHA88630
MedGen 42 C1846129
UMLS 72 C1846129

Summaries for Terminal Osseous Dysplasia

UniProtKB/Swiss-Prot : 74 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 bone, and related phenotypes are mesomelic arm shortening and mesomelic leg shortening

OMIM : 57 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)

KEGG : 37
Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. TOD is caused by a mutation in the FLNA gene.

Wikipedia : 75 Terminal osseous dysplasia with pigmentary defects is a cutaneous condition characterized by... more...

Related Diseases for Terminal Osseous Dysplasia

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:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 mesomelic arm shortening 32 occasional (7.5%) HP:0005011
2 mesomelic leg shortening 32 occasional (7.5%) HP:0004987
3 cleft palate 32 very rare (1%) HP:0000175
4 malar flattening 32 HP:0000272
5 hypertelorism 32 HP:0000316
6 low-set ears 32 HP:0000369
7 ptosis 32 HP:0000508
8 epicanthus 32 HP:0000286
9 toe clinodactyly 32 HP:0001863
10 abnormality of skin pigmentation 32 HP:0001000
11 short toe 32 HP:0001831
12 multiple joint contractures 32 HP:0002828
13 telecanthus 32 HP:0000506
14 iris coloboma 32 HP:0000612
15 brachydactyly 32 HP:0001156
16 fibroma 32 HP:0010614
17 camptodactyly of finger 32 HP:0100490
18 abnormal oral frenulum morphology 32 HP:0000190
19 localized skin lesion 32 HP:0011355
20 syndactyly 32 HP:0001159
21 camptodactyly of toe 32 HP:0001836
22 abnormal hand bone ossification 32 HP:0010660
23 abnormal foot bone ossification 32 HP:0010675

Symptoms via clinical synopsis from OMIM:

57
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 29 FLNA

Anatomical Context for Terminal Osseous Dysplasia

MalaCards organs/tissues related to Terminal Osseous Dysplasia:

41
Skin, Bone

Publications for Terminal Osseous Dysplasia

Articles related to Terminal Osseous Dysplasia:

(show all 19)
# Title Authors PMID Year
1
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. 38 8 71
20598277 2010
2
Terminal osseous dysplasia with pigmentary defects: clinical description of a new family. 38 8 71
17152064 2007
3
Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome. 38 8 71
15864382 2005
4
Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations. 8 71
10982965 2000
5
A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization. 8 71
9800904 1998
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. 38 8
20583181 2010
7
Terminal osseous dysplasia and pigmentary defects in a Brazilian girl. 38 8
18792982 2008
8
Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. 38 8
10982966 2000
9
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. 38 8
10739772 2000
10
Recurring digital fibroma of infancy. 8
4452723 1974
11
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. 38
30561107 2019
12
Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas. 38
30168171 2018
13
Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders. 38
26061098 2016
14
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects. 38
26059211 2015
15
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. 38
25614868 2014
16
Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum. 38
17159518 2007
17
Otopalatodigital Spectrum Disorders 38
20301567 2005
18
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. 38
14699622 2004
19
Clinical manifestations of terminal osseous dysplasia and pigmentary defects in a young girl. 38
12738953 2003

Variations for Terminal Osseous Dysplasia

ClinVar genetic disease variations for Terminal Osseous Dysplasia:

6 (show all 16)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FLNA NM_001110556.2(FLNA): c.5217G> A (p.Thr1739=) single nucleotide variant Pathogenic rs387907371 X:153583193-153583193 X:154354825-154354825
2 FLNA NM_001110556.2(FLNA): c.3323G> A (p.Cys1108Tyr) single nucleotide variant Uncertain significance rs371677498 X:153588840-153588840 X:154360472-154360472
3 FLNA NM_001110556.2(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 X:153595186-153595186 X:154366818-154366818
4 FLNA NM_001110556.2(FLNA): c.6719A> G (p.Lys2240Arg) single nucleotide variant Uncertain significance rs797045581 X:153580599-153580599 X:154352231-154352231
5 FLNA NM_001110556.2(FLNA): c.569G> A (p.Arg190Gln) single nucleotide variant Uncertain significance rs782447567 X:153596263-153596263 X:154367895-154367895
6 FLNA NM_001110556.2(FLNA): c.2974A> G (p.Thr992Ala) single nucleotide variant Uncertain significance X:153589909-153589909 X:154361541-154361541
7 FLNA NM_001110556.2(FLNA): c.4314C> G (p.Phe1438Leu) single nucleotide variant Uncertain significance X:153587512-153587512 X:154359144-154359144
8 FLNA NM_001110556.2(FLNA): c.2364G> A (p.Glu788=) single nucleotide variant Uncertain significance X:153591069-153591069 X:154362701-154362701
9 FLNA NM_001110556.2(FLNA): c.1204A> G (p.Thr402Ala) single nucleotide variant Uncertain significance X:153594700-153594700 X:154366332-154366332
10 FLNA NM_001110556.2(FLNA): c.494A> G (p.Lys165Arg) single nucleotide variant Uncertain significance X:153596338-153596338 X:154367970-154367970
11 FLNA NM_001110556.2(FLNA): c.7628G> A (p.Cys2543Tyr) single nucleotide variant Uncertain significance rs201762017 X:153577858-153577858 X:154349490-154349490
12 FLNA NM_001110556.2(FLNA): c.2254G> A (p.Val752Ile) single nucleotide variant Uncertain significance rs1297013254 X:153592416-153592416 X:154364048-154364048
13 FLNA NM_001110556.2(FLNA): c.6725G> A (p.Arg2242Gln) single nucleotide variant Uncertain significance rs781984274 X:153580593-153580593 X:154352225-154352225
14 FLNA NM_001110556.2(FLNA): c.6863G> A (p.Arg2288His) single nucleotide variant Uncertain significance rs782275601 X:153580296-153580296 X:154351928-154351928
15 FLNA NM_001110556.2(FLNA): c.6376C> T (p.Pro2126Ser) single nucleotide variant Uncertain significance rs782400832 X:153581143-153581143 X:154352775-154352775
16 FLNA NM_001110556.2(FLNA): c.546G> C (p.Gln182His) single nucleotide variant Uncertain significance rs1557179648 X:153596286-153596286 X:154367918-154367918

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 MAGEA9B MAGEA9 MAGEA6

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 MAGEA9B MAGEA9 MAGEA6

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 MAGEA9B MAGEA9 MAGEA6

Sources for Terminal Osseous Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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