THYP
MCID: TBH001
MIFTS: 32

Tibia, Hypoplasia or Aplasia of, with Polydactyly (THYP)

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

Aliases & Classifications for Tibia, Hypoplasia or Aplasia of, with Polydactyly

MalaCards integrated aliases for Tibia, Hypoplasia or Aplasia of, with Polydactyly:

Name: Tibia, Hypoplasia or Aplasia of, with Polydactyly 58 76 6
Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs with Fibular Dimelia 58 76
Hypoplastic or Aplastic Tibia with Polydactyly 58 76
Werner Mesomelic Syndrome 60 76
Thyp 58 76
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome 60
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome 60
Tibia, Hypoplastic or Aplastic, with Polydactyly 41
Hypoplasia or Aplasia of Tibia with Polydactyly 76
Tibia, Hypoplasia of, with Polydactyly 74
Absent Tibia-Polydactyly Syndrome 60
Wms 76

Characteristics:

Orphanet epidemiological data:

60
hypoplastic tibiae-postaxial polydactyly syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
tibia, hypoplasia or aplasia of, with polydactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 188740
MESH via Orphanet 46 C535564
ICD10 via Orphanet 35 Q74.8 Q87.2
UMLS via Orphanet 75 C1861099
Orphanet 60 ORPHA3332 ORPHA988
UMLS 74 C1861098

Summaries for Tibia, Hypoplasia or Aplasia of, with Polydactyly

UniProtKB/Swiss-Prot : 76 Hypoplasia or aplasia of tibia with polydactyly: An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly.

MalaCards based summary : Tibia, Hypoplasia or Aplasia of, with Polydactyly, also known as tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia, is related to polydactyly, preaxial ii and polydactyly. An important gene associated with Tibia, Hypoplasia or Aplasia of, with Polydactyly is LMBR1 (Limb Development Membrane Protein 1). Affiliated tissues include neutrophil, b cells and temporal lobe, and related phenotypes are finger syndactyly and bowing of the long bones

Description from OMIM: 188740

Related Diseases for Tibia, Hypoplasia or Aplasia of, with Polydactyly

Diseases related to Tibia, Hypoplasia or Aplasia of, with Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial ii 30.5 LMBR1 SHH
2 polydactyly 29.5 LMBR1 SHH
3 syndactyly, type iv 29.5 LMBR1 SHH
4 waldenstrom macroglobulinemia 12.1
5 tibial hemimelia 12.1
6 hypoplasia of the tibia with polydactyly 11.9
7 williams-beuren syndrome 11.4
8 macroglobulinemia, waldenstrom 1 11.4
9 weill-marchesani syndrome 11.3
10 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 11.1
11 weill-marchesani syndrome 2 11.1
12 weill-marchesani syndrome 3 11.1
13 macroglobulinemia 10.5
14 epilepsy 10.2
15 temporal lobe epilepsy 10.1
16 lymphoma 10.1
17 brain injury 10.0
18 traumatic brain injury 10.0
19 amnestic disorder 10.0
20 alzheimer disease 9.9
21 blood group system, landsteiner-wiener 9.9
22 exudative vitreoretinopathy 1 9.9
23 neutrophil migration 9.9
24 schizophrenia 9.9
25 strabismus 9.9
26 lymphoma, hodgkin, classic 9.9
27 spondylocarpotarsal synostosis syndrome 9.9
28 wilson disease 9.9
29 lymphoma, non-hodgkin, familial 9.9
30 anxiety 9.9
31 glomerulonephritis 9.9
32 marginal zone b-cell lymphoma 9.9
33 splenic marginal zone lymphoma 9.9
34 lipoid nephrosis 9.9
35 lyme disease 9.9
36 nephrotic syndrome 9.9
37 dementia 9.9
38 melanoma 9.9
39 cryoglobulinemia 9.9
40 compartment syndrome 9.9
41 vascular dementia 9.9
42 amyloidosis 9.9
43 mechanical strabismus 9.9
44 radial hemimelia 9.8 LMBR1 SHH
45 laurin-sandrow syndrome 9.7 LMBR1 SHH
46 acheiropody 9.7 LMBR1 SHH
47 physical disorder 9.6 LMBR1 SHH
48 autosomal dominant disease 9.5 LMBR1 SHH

Graphical network of the top 20 diseases related to Tibia, Hypoplasia or Aplasia of, with Polydactyly:



Diseases related to Tibia, Hypoplasia or Aplasia of, with Polydactyly

Symptoms & Phenotypes for Tibia, Hypoplasia or Aplasia of, with Polydactyly

Human phenotypes related to Tibia, Hypoplasia or Aplasia of, with Polydactyly:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0006101
2 bowing of the long bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0006487
3 short stature 60 33 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0004322
4 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
5 postaxial hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001162
6 patellar aplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0006443
7 short tibia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005736
8 aplasia/hypoplasia of the tibia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005772
9 fibular duplication 60 33 hallmark (90%) Very frequent (99-80%) HP:0010503
10 increased fibular diameter 60 33 hallmark (90%) Very frequent (99-80%) HP:0012107
11 abnormality of fibula morphology 33 hallmark (90%) HP:0002991
12 synostosis of carpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0005048
13 preaxial hand polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001177
14 aplasia/hypoplasia of the thumb 60 33 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0009601
15 limitation of joint mobility 60 33 occasional (7.5%) Occasional (29-5%) HP:0001376
16 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0100490
17 triphalangeal thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0001199
18 depressed nasal tip 60 33 occasional (7.5%) Occasional (29-5%) HP:0000437
19 abnormal heart morphology 33 HP:0001627
20 abnormality of the fibula 60 Very frequent (99-80%),Very frequent (99-80%)
21 absent tibia 33 HP:0009556
22 polydactyly 33 HP:0010442

Symptoms via clinical synopsis from OMIM:

58
Limbs:
absent tibia
polydactyly

Cardiac:
congenital heart defect

Clinical features from OMIM:

188740

MGI Mouse Phenotypes related to Tibia, Hypoplasia or Aplasia of, with Polydactyly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 LMBR1 SHH

Drugs & Therapeutics for Tibia, Hypoplasia or Aplasia of, with Polydactyly

Search Clinical Trials , NIH Clinical Center for Tibia, Hypoplasia or Aplasia of, with Polydactyly

Genetic Tests for Tibia, Hypoplasia or Aplasia of, with Polydactyly

Anatomical Context for Tibia, Hypoplasia or Aplasia of, with Polydactyly

MalaCards organs/tissues related to Tibia, Hypoplasia or Aplasia of, with Polydactyly:

42
Neutrophil, B Cells, Temporal Lobe

Publications for Tibia, Hypoplasia or Aplasia of, with Polydactyly

Articles related to Tibia, Hypoplasia or Aplasia of, with Polydactyly:

# Title Authors Year
1
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. ( 24777739 )
2014
2
ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers. ( 24965254 )
2014
3
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. ( 19847792 )
2010
4
Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly. ( 18156157 )
2008
5
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. ( 12837695 )
2003
6
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36. ( 9950363 )
1999
7
Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome? ( 7726219 )
1995

Variations for Tibia, Hypoplasia or Aplasia of, with Polydactyly

ClinVar genetic disease variations for Tibia, Hypoplasia or Aplasia of, with Polydactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LMBR1 NM_022458.3(LMBR1): c.423+4917G> A single nucleotide variant Pathogenic rs606231147 GRCh38 Chromosome 7, 156791472: 156791472
2 LMBR1 NM_022458.3(LMBR1): c.423+4917G> A single nucleotide variant Pathogenic rs606231147 GRCh37 Chromosome 7, 156584166: 156584166
3 LMBR1 NM_022458.3(LMBR1): c.423+4915C> T single nucleotide variant Pathogenic rs587779752 GRCh38 Chromosome 7, 156791474: 156791474
4 LMBR1 NM_022458.3(LMBR1): c.423+4915C> T single nucleotide variant Pathogenic rs587779752 GRCh37 Chromosome 7, 156584168: 156584168
5 LMBR1 LMBR1, 404G-C single nucleotide variant Pathogenic
6 LMBR1 LMBR1, 406A-G single nucleotide variant Pathogenic

Expression for Tibia, Hypoplasia or Aplasia of, with Polydactyly

Search GEO for disease gene expression data for Tibia, Hypoplasia or Aplasia of, with Polydactyly.

Pathways for Tibia, Hypoplasia or Aplasia of, with Polydactyly

GO Terms for Tibia, Hypoplasia or Aplasia of, with Polydactyly

Biological processes related to Tibia, Hypoplasia or Aplasia of, with Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic digit morphogenesis GO:0042733 8.62 LMBR1 SHH

Sources for Tibia, Hypoplasia or Aplasia of, with Polydactyly

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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