TOD
MCID: TRM011
MIFTS: 37

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 56 73 36 29 13 6 39
Terminal Osseous Dysplasia and Pigmentary Defects 56 73 71
Odpf Syndrome 56 73
Todpd 56 73
Odpd 56 73
Odpf 56 73
Tod 56 73
Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula; Odpf 56
Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula 56
Digital Osseous Dysplasia with Facial Pigmentary Defects and Multiple Frenula 73
Terminal Osseous Dysplasia and Pigmentary Defects; Todpd 56
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome 58
Osseous Dysplasia and Pigmentary Defects 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
x-linked dominant


HPO:

31
terminal osseous dysplasia:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 300244
KEGG 36 H02229
MeSH 43 D001848
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 72 C1846129
Orphanet 58 ORPHA88630
MedGen 41 C1846129
UMLS 71 C1846129

Summaries for Terminal Osseous Dysplasia

UniProtKB/Swiss-Prot : 73 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, bone and heart, and related phenotypes are mesomelic arm shortening and mesomelic leg shortening

OMIM : 56 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 : 36 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 : 74 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:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 mesomelic arm shortening 31 occasional (7.5%) HP:0005011
2 mesomelic leg shortening 31 occasional (7.5%) HP:0004987
3 cleft palate 31 very rare (1%) HP:0000175
4 malar flattening 31 HP:0000272
5 hypertelorism 31 HP:0000316
6 low-set ears 31 HP:0000369
7 ptosis 31 HP:0000508
8 brachydactyly 31 HP:0001156
9 epicanthus 31 HP:0000286
10 toe clinodactyly 31 HP:0001863
11 abnormality of skin pigmentation 31 HP:0001000
12 short toe 31 HP:0001831
13 multiple joint contractures 31 HP:0002828
14 telecanthus 31 HP:0000506
15 iris coloboma 31 HP:0000612
16 fibroma 31 HP:0010614
17 camptodactyly of finger 31 HP:0100490
18 abnormal oral frenulum morphology 31 HP:0000190
19 depressed nasal tip 31 HP:0000437
20 localized skin lesion 31 HP:0011355
21 syndactyly 31 HP:0001159
22 camptodactyly of toe 31 HP:0001836
23 abnormal hand bone ossification 31 HP:0010660
24 abnormal foot bone ossification 31 HP:0010675

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
telecanthus
epicanthic folds
coloboma of iris
upslanting palpebral fissure

Head And Neck Nose:
depressed nasal tip
flat nasal tip

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

Skeletal Feet:
metatarsal disorganization

Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly
syndactyly
metacarpal disorganization

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

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:

40
Skin, Bone, Heart, Tongue

Publications for Terminal Osseous Dysplasia

Articles related to Terminal Osseous Dysplasia:

(show all 20)
# Title Authors PMID Year
1
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. 61 56 6
20598277 2010
2
Terminal osseous dysplasia with pigmentary defects: clinical description of a new family. 61 56 6
17152064 2007
3
Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome. 61 56 6
15864382 2005
4
Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations. 56 6
10982965 2000
5
A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization. 56 6
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. 61 56
20583181 2010
7
Terminal osseous dysplasia and pigmentary defects in a Brazilian girl. 61 56
18792982 2008
8
Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. 61 56
10982966 2000
9
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. 61 56
10739772 2000
10
Recurring digital fibroma of infancy. 56
4452723 1974
11
Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review. 61
31919883 2020
12
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. 61
30561107 2019
13
Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas. 61
30168171 2018
14
Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders. 61
26061098 2016
15
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects. 61
26059211 2015
16
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. 61
25614868 2014
17
Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum. 61
17159518 2007
18
X-Linked Otopalatodigital Spectrum Disorders 61
20301567 2005
19
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. 61
14699622 2004
20
Clinical manifestations of terminal osseous dysplasia and pigmentary defects in a young girl. 61
12738953 2003

Variations for Terminal Osseous Dysplasia

ClinVar genetic disease variations for Terminal Osseous Dysplasia:

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNA NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)SNV Pathogenic 11775 rs387907371 X:153583193-153583193 X:154354825-154354825
2 FLNA NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)SNV Conflicting interpretations of pathogenicity 588552 rs782445995 X:153589909-153589909 X:154361541-154361541
3 FLNA NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)SNV Conflicting interpretations of pathogenicity 625949 rs1448428046 X:153591069-153591069 X:154362701-154362701
4 FLNA NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)SNV Uncertain significance 625950 rs1569551838 X:153594700-153594700 X:154366332-154366332
5 FLNA NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)SNV Uncertain significance 625951 rs1569551874 X:153596338-153596338 X:154367970-154367970
6 FLNA NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)SNV Uncertain significance 625948 rs1557177412 X:153587512-153587512 X:154359144-154359144
7 FLNA NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)SNV Uncertain significance 198133 rs192609440 X:153595186-153595186 X:154366818-154366818
8 FLNA NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)SNV Uncertain significance 211024 rs797045581 X:153580599-153580599 X:154352231-154352231
9 FLNA NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)SNV Uncertain significance 213491 rs782447567 X:153596263-153596263 X:154367895-154367895
10 FLNA NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)SNV Uncertain significance 93756 rs371677498 X:153588840-153588840 X:154360472-154360472
11 FLNA NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)SNV Uncertain significance 392335 rs201762017 X:153577858-153577858 X:154349490-154349490
12 FLNA NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)SNV Uncertain significance 432226 rs1297013254 X:153592416-153592416 X:154364048-154364048
13 FLNA NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)SNV Uncertain significance 435203 rs781984274 X:153580593-153580593 X:154352225-154352225
14 FLNA NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)SNV Uncertain significance 465015 rs782275601 X:153580296-153580296 X:154351928-154351928
15 FLNA NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)SNV Uncertain significance 533577 rs782400832 X:153581143-153581143 X:154352775-154352775
16 FLNA NM_001110556.2(FLNA):c.546G>C (p.Gln182His)SNV Uncertain significance 548502 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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