MCID: TRM011
MIFTS: 34

Terminal Osseous Dysplasia

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

Aliases & Classifications for Terminal Osseous Dysplasia

MalaCards integrated aliases for Terminal Osseous Dysplasia:

Name: Terminal Osseous Dysplasia 57 75 29 13 6 40
Terminal Osseous Dysplasia and Pigmentary Defects 57 75 73
Odpf Syndrome 57 75
Todpd 57 75
Odpd 57 75
Odpf 57 75
Tod 57 75
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 75
Terminal Osseous Dysplasia and Pigmentary Defects; Todpd 57
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome 59
Osseous Dysplasia and Pigmentary Defects 75

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


Classifications:



External Ids:

OMIM 57 300244
Orphanet 59 ORPHA88630
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 74 C1846129
MedGen 42 C1846129
MeSH 44 D001848
UMLS 73 C1846129

Summaries for Terminal Osseous Dysplasia

UniProtKB/Swiss-Prot : 75 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 malar flattening and hypertelorism

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)

Wikipedia : 76 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 11.1
2 otopalatodigital syndrome, type i 11.1
3 isolated growth hormone deficiency, type ia 9.9
4 dwarfism 9.9
5 fibromatosis 9.8
6 infantile digital fibromatosis 9.8
7 dyskeratosis congenita 9.4 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

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

Human phenotypes related to Terminal Osseous Dysplasia:

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

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 11)
# Title Authors Year
1
Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders. ( 26061098 )
2015
2
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects. ( 26059211 )
2015
3
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. ( 25614868 )
2014
4
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. ( 20598277 )
2010
5
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
6
Terminal osseous dysplasia and pigmentary defects in a Brazilian girl. ( 18792982 )
2008
7
Terminal osseous dysplasia with pigmentary defects: clinical description of a new family. ( 17152064 )
2007
8
Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome. ( 15864382 )
2005
9
Clinical manifestations of terminal osseous dysplasia and pigmentary defects in a young girl. ( 12738953 )
2003
10
Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. ( 10982966 )
2000
11
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. ( 10739772 )
2000

Variations for Terminal Osseous Dysplasia

ClinVar genetic disease variations for Terminal Osseous Dysplasia:

6
# 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

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 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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