MCID: HYP591
MIFTS: 26

Hypoplastic or Aplastic Tibia with Polydactyly

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

Aliases & Classifications for Hypoplastic or Aplastic Tibia with Polydactyly

MalaCards integrated aliases for Hypoplastic or Aplastic Tibia with Polydactyly:

Name: Hypoplastic or Aplastic Tibia with Polydactyly 54 71
Werner Mesomelic Syndrome 56 71
Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs with Fibular Dimelia 71
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome 56
Tibia, Hypoplasia or Aplasia of, with Polydactyly 71
Hypoplasia or Aplasia of Tibia with Polydactyly 71
Tibia, Hypoplasia of, with Polydactyly 69
Absent Tibia-Polydactyly Syndrome 56
Thyp 71
Wms 71

Characteristics:

Orphanet epidemiological data:

56
hypoplastic tibiae-postaxial polydactyly syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
hypoplastic or aplastic tibia with polydactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 188740
Orphanet 56 ORPHA988 ORPHA3332
MESH via Orphanet 43 C535564
UMLS via Orphanet 70 C1861099
ICD10 via Orphanet 34 Q87.2 Q74.8
MedGen 40 C1861099

Summaries for Hypoplastic or Aplastic Tibia with Polydactyly

UniProtKB/Swiss-Prot : 71 Hypoplasia or aplasia of tibia with polydactyly: An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly.

MalaCards based summary : Hypoplastic or Aplastic Tibia with Polydactyly, also known as werner mesomelic syndrome, is related to hypoplasia of the tibia with polydactyly and lymphoplasmacytic lymphoma, and has symptoms including short stature, finger syndactyly and patellar aplasia. An important gene associated with Hypoplastic or Aplastic Tibia with Polydactyly is LMBR1 (Limb Development Membrane Protein 1). Affiliated tissues include bone and heart, and related phenotype is limbs/digits/tail.

Description from OMIM: 188740

Related Diseases for Hypoplastic or Aplastic Tibia with Polydactyly

Graphical network of the top 20 diseases related to Hypoplastic or Aplastic Tibia with Polydactyly:



Diseases related to Hypoplastic or Aplastic Tibia with Polydactyly

Symptoms & Phenotypes for Hypoplastic or Aplastic Tibia with Polydactyly

Symptoms via clinical synopsis from OMIM:

54

Cardiac:
congenital heart defect

Limbs:
absent tibia
polydactyly


Clinical features from OMIM:

188740

Human phenotypes related to Hypoplastic or Aplastic Tibia with Polydactyly:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0004322
2 finger syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0006101
3 patellar aplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0006443
4 triphalangeal thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0001199
5 depressed nasal tip 56 32 occasional (7.5%) Occasional (29-5%) HP:0000437
6 fibular duplication 56 32 hallmark (90%) Very frequent (99-80%) HP:0010503
7 bowing of the long bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0006487
8 short tibia 56 32 hallmark (90%) Very frequent (99-80%) HP:0005736
9 limitation of joint mobility 56 32 occasional (7.5%) Occasional (29-5%) HP:0001376
10 clinodactyly of the 5th finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0004209
11 synostosis of carpal bones 56 32 frequent (33%) Frequent (79-30%) HP:0005048
12 camptodactyly of finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0100490
13 preaxial hand polydactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001177
14 postaxial hand polydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001162
15 aplasia/hypoplasia of the thumb 56 32 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0009601
16 aplasia/hypoplasia of the tibia 56 32 hallmark (90%) Very frequent (99-80%) HP:0005772
17 increased fibular diameter 56 32 hallmark (90%) Very frequent (99-80%) HP:0012107
18 absent tibia 32 HP:0009556
19 abnormal heart morphology 32 HP:0001627
20 abnormality of the fibula 56 Very frequent (99-80%),Very frequent (99-80%)
21 abnormality of fibula morphology 32 hallmark (90%) HP:0002991

MGI Mouse Phenotypes related to Hypoplastic or Aplastic Tibia with Polydactyly:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 LMBR1 SHH

Drugs & Therapeutics for Hypoplastic or Aplastic Tibia with Polydactyly

Search Clinical Trials , NIH Clinical Center for Hypoplastic or Aplastic Tibia with Polydactyly

Genetic Tests for Hypoplastic or Aplastic Tibia with Polydactyly

Anatomical Context for Hypoplastic or Aplastic Tibia with Polydactyly

MalaCards organs/tissues related to Hypoplastic or Aplastic Tibia with Polydactyly:

39
Bone, Heart

Publications for Hypoplastic or Aplastic Tibia with Polydactyly

Variations for Hypoplastic or Aplastic Tibia with Polydactyly

ClinVar genetic disease variations for Hypoplastic or Aplastic Tibia with Polydactyly:

6
id 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+4915C> T single nucleotide variant Pathogenic rs587779752 GRCh38 Chromosome 7, 156791474: 156791474
3 LMBR1 LMBR1, 404G-C single nucleotide variant Pathogenic
4 LMBR1 LMBR1, 406A-G single nucleotide variant Pathogenic

Expression for Hypoplastic or Aplastic Tibia with Polydactyly

Search GEO for disease gene expression data for Hypoplastic or Aplastic Tibia with Polydactyly.

Pathways for Hypoplastic or Aplastic Tibia with Polydactyly

GO Terms for Hypoplastic or Aplastic Tibia with Polydactyly

Biological processes related to Hypoplastic or Aplastic Tibia with Polydactyly according to GeneCards Suite gene sharing:

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

Sources for Hypoplastic or Aplastic Tibia with Polydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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