THYP
MCID: HYP591
MIFTS: 29

Hypoplastic or Aplastic Tibia with Polydactyly (THYP) malady

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

Aliases & Classifications for Hypoplastic or Aplastic Tibia with Polydactyly

Aliases & Descriptions for Hypoplastic or Aplastic Tibia with Polydactyly:

Name: Hypoplastic or Aplastic Tibia with Polydactyly 54 66
Tibia, Hypoplasia or Aplasia of, with Polydactyly 54 66
Werner Mesomelic Syndrome 56 66
Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs with Fibular Dimelia 66
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome 56
Hypoplasia or Aplasia of Tibia with Polydactyly 66
Tibia, Hypoplasia of, with Polydactyly 69
Absent Tibia-Polydactyly Syndrome 56
Ectromelia 42
Thyp 66
Wms 66

Characteristics:

Orphanet epidemiological data:

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

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 : 66 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 tibia, hypoplasia or aplasia of, with polydactyly, is related to hypoplasia of the tibia with polydactyly and waldenstrom macroglobulinemia, and has symptoms including finger syndactyly, bowing of the long bones and short stature. An important gene associated with Hypoplastic or Aplastic Tibia with Polydactyly is LMBR1 (Limb Development Membrane Protein 1). Affiliated tissues include bone and heart.

Description from OMIM: 188740

Related Diseases for Hypoplastic or Aplastic Tibia with Polydactyly

Diseases related to Hypoplastic or Aplastic Tibia with Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
id Related Disease Score Top Affiliating Genes
1 hypoplasia of the tibia with polydactyly 11.6
2 waldenstrom macroglobulinemia 11.1
3 macroglobulinemia, waldenstrom 1 11.1
4 weill-marchesani syndrome 11.0
5 weill-marchesani syndrome 1, recessive 11.0
6 williams-beuren syndrome 10.9
7 lymphoplasmacytic lymphoma 10.9
8 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 10.8
9 weill-marchesani syndrome 3, recessive 10.8
10 weill-marchesani syndrome 2, dominant 10.8
11 vaccinia 10.3
12 macroglobulinemia 10.2
13 cowpox 10.1
14 polydactyly 10.0
15 localized lichen myxedematosus with mixed features of different subtypes 10.0 LMBR1 SHH
16 congenital pseudoarthrosis of the fibula 10.0 LMBR1 SHH
17 congenital pseudoarthrosis of the radius 10.0 LMBR1 SHH
18 postaxial polydactyly type a, bilateral 10.0 LMBR1 SHH
19 postaxial polydactyly of toes, unilateral 10.0 LMBR1 SHH
20 laurin-sandrow syndrome 10.0 LMBR1 SHH
21 wolff-parkinson-white syndrome 10.0 LMBR1 SHH
22 syndactyly, type iv 10.0 LMBR1 SHH
23 synostosis 10.0
24 smallpox 10.0
25 humero-ulnar synostosis 10.0
26 ugt2b15-related altered drug metabolism 10.0 LMBR1 SHH
27 hypoparathyroidism 9.9 LMBR1 SHH
28 lymphoma 9.9
29 autosomal genetic disease 9.9 LMBR1 SHH
30 triphalangeal thumb 9.9
31 fibrous dysplasia 9.9 LMBR1 SHH
32 horner's syndrome 9.8 LMBR1 SHH
33 holt-oram syndrome 9.7
34 erythromelalgia 9.7
35 schizophrenia 9.7
36 melanoma 9.7
37 hodgkin lymphoma 9.7
38 wilson disease 9.7
39 currarino syndrome 9.5 IL18 IL18BP LMBR1 SHH

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 by clinical synopsis from OMIM:

188740

Clinical features from OMIM:

188740

Human phenotypes related to Hypoplastic or Aplastic Tibia with Polydactyly:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 56 32 Very frequent (99-80%) HP:0006101
2 bowing of the long bones 56 32 Very frequent (99-80%) HP:0006487
3 short stature 56 32 Very frequent (99-80%),Occasional (29-5%) HP:0004322
4 limitation of joint mobility 56 32 Occasional (29-5%) HP:0001376
5 clinodactyly of the 5th finger 56 32 Very frequent (99-80%) HP:0004209
6 synostosis of carpal bones 56 32 Frequent (79-30%) HP:0005048
7 camptodactyly of finger 56 32 Occasional (29-5%) HP:0100490
8 preaxial hand polydactyly 56 32 Frequent (79-30%) HP:0001177
9 triphalangeal thumb 56 32 Occasional (29-5%) HP:0001199
10 postaxial hand polydactyly 56 32 Very frequent (99-80%) HP:0001162
11 aplasia/hypoplasia of the thumb 56 32 Frequent (79-30%),Occasional (29-5%) HP:0009601
12 depressed nasal tip 56 32 Occasional (29-5%) HP:0000437
13 patellar aplasia 56 32 Very frequent (99-80%) HP:0006443
14 short tibia 56 32 Very frequent (99-80%) HP:0005736
15 abnormality of the fibula 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0002991
16 aplasia/hypoplasia of the tibia 56 32 Very frequent (99-80%) HP:0005772
17 fibular duplication 56 32 Very frequent (99-80%) HP:0010503
18 increased fibular diameter 56 32 Very frequent (99-80%) HP:0012107
19 underdeveloped nasal alae 32 HP:0000430
20 hand polydactyly 32 HP:0001161
21 radioulnar synostosis 32 HP:0002974
22 syndactyly 32 HP:0001159
23 abnormal heart morphology 32 HP:0001627
24 absent tibia 32 HP:0009556
25 polydactyly 32 HP:0010442

Drugs & Therapeutics for Hypoplastic or Aplastic Tibia with Polydactyly

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

Cochrane evidence based reviews: ectromelia

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

Cellular components related to Hypoplastic or Aplastic Tibia with Polydactyly according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 8.8 IL18 IL18BP SHH

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 cell-cell signaling GO:0007267 9.26 IL18 SHH
2 angiogenesis GO:0001525 9.16 IL18 SHH
3 embryonic digit morphogenesis GO:0042733 8.96 LMBR1 SHH
4 T-helper 1 type immune response GO:0042088 8.62 IL18 IL18BP

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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