MCID: TBH001
MIFTS: 31

Tibia, Hypoplasia or Aplasia of, with Polydactyly

Categories: Genetic diseases, Bone diseases, Fetal 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 57 75 29 6
Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs with Fibular Dimelia 57 75
Hypoplastic or Aplastic Tibia with Polydactyly 57 75
Werner Mesomelic Syndrome 59 75
Thyp 57 75
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome 59
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome 59
Tibia, Hypoplastic or Aplastic, with Polydactyly 40
Hypoplasia or Aplasia of Tibia with Polydactyly 75
Tibia, Hypoplasia of, with Polydactyly 73
Absent Tibia-Polydactyly Syndrome 59
Wms 75

Characteristics:

Orphanet epidemiological data:

59
hypoplastic tibiae-postaxial polydactyly syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
tibia, hypoplasia or aplasia of, with polydactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 188740
Orphanet 59 ORPHA988 ORPHA3332
MESH via Orphanet 45 C535564
UMLS via Orphanet 74 C1861099
ICD10 via Orphanet 34 Q87.2 Q74.8
UMLS 73 C1861098

Summaries for Tibia, Hypoplasia or Aplasia of, with Polydactyly

UniProtKB/Swiss-Prot : 75 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 bone and heart, and related phenotypes are short stature and synostosis of carpal bones

Description from OMIM: 188740

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

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

Symptoms via clinical synopsis from OMIM:

57
Limbs:
absent tibia
polydactyly

Cardiac:
congenital heart defect


Clinical features from OMIM:

188740

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

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0004322
2 synostosis of carpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0005048
3 aplasia/hypoplasia of the tibia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005772
4 patellar aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006443
5 aplasia/hypoplasia of the thumb 59 32 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0009601
6 depressed nasal tip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000437
7 postaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001162
8 preaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001177
9 triphalangeal thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001199
10 limitation of joint mobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001376
11 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
12 short tibia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005736
13 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
14 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
15 fibular duplication 59 32 hallmark (90%) Very frequent (99-80%) HP:0010503
16 increased fibular diameter 59 32 hallmark (90%) Very frequent (99-80%) HP:0012107
17 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
18 abnormality of the fibula 59 Very frequent (99-80%),Very frequent (99-80%)
19 abnormal heart morphology 32 HP:0001627
20 absent tibia 32 HP:0009556
21 polydactyly 32 HP:0010442
22 abnormality of fibula morphology 32 hallmark (90%) HP:0002991

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

46
# 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

Genetic tests related to Tibia, Hypoplasia or Aplasia of, with Polydactyly:

# Genetic test Affiliating Genes
1 Tibia, Hypoplasia or Aplasia of, with Polydactyly 29 LMBR1

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

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

41
Bone, Heart

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
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

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 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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