BDE2
MCID: BRC060
MIFTS: 32

Brachydactyly, Type E2 (BDE2)

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

Aliases & Classifications for Brachydactyly, Type E2

MalaCards integrated aliases for Brachydactyly, Type E2:

Name: Brachydactyly, Type E2 56 13 71
Brachydactyly Type E2 12 29 6 15 39
Bde2 56 12 73
Brachydactyly E2 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
brachydactyly, type e2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110976
OMIM 56 613382
MeSH 43 D059327
MedGen 41 C3150644
UMLS 71 C3150644

Summaries for Brachydactyly, Type E2

UniProtKB/Swiss-Prot : 73 Brachydactyly E2: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges.

MalaCards based summary : Brachydactyly, Type E2, also known as brachydactyly type e2, is related to brachydactyly, type e1 and brachydactyly. An important gene associated with Brachydactyly, Type E2 is PTHLH (Parathyroid Hormone Like Hormone), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Protein ubiquitination. Affiliated tissues include bone, and related phenotypes are delayed eruption of teeth and oligodontia

Disease Ontology : 12 A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has material basis in heterozygous mutation in the PTHLH gene on chromosome 12p.

More information from OMIM: 613382

Related Diseases for Brachydactyly, Type E2

Graphical network of the top 20 diseases related to Brachydactyly, Type E2:



Diseases related to Brachydactyly, Type E2

Symptoms & Phenotypes for Brachydactyly, Type E2

Human phenotypes related to Brachydactyly, Type E2:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 delayed eruption of teeth 31 occasional (7.5%) HP:0000684
2 oligodontia 31 occasional (7.5%) HP:0000677
3 brachydactyly 31 HP:0001156
4 short stature 31 HP:0004322
5 short metacarpal 31 HP:0010049
6 short metatarsal 31 HP:0010743

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Head And Neck Teeth:
delayed eruption, primary and secondary (in some patients)
oligodontia (in some patients)

Skeletal Feet:
short metatarsals

Skeletal Hands:
short metacarpals, iii-v

Clinical features from OMIM:

613382

GenomeRNAi Phenotypes related to Brachydactyly, Type E2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.96 RNF7 UBE2D4 UBE2F UBE2U UBE2W
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.96 RNF7 UBE2D4 UBE2F UBE2U UBE2W
3 Synthetic lethal with Ras GR00018-A-0 9.02 DES SNRNP200 UBE2D4 UBE2U ZNRF2

Drugs & Therapeutics for Brachydactyly, Type E2

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type E2

Genetic Tests for Brachydactyly, Type E2

Genetic tests related to Brachydactyly, Type E2:

# Genetic test Affiliating Genes
1 Brachydactyly Type E2 29 PTHLH

Anatomical Context for Brachydactyly, Type E2

MalaCards organs/tissues related to Brachydactyly, Type E2:

40
Bone

Publications for Brachydactyly, Type E2

Articles related to Brachydactyly, Type E2:

# Title Authors PMID Year
1
Deletion and point mutations of PTHLH cause brachydactyly type E. 56 6
20170896 2010
2
A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. 56
20015959 2010
3
[Mutation analysis of a pedigree affected with brachydactyly type E2 and obesity]. 61
30835359 2019
4
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism. 61
29947179 2018

Variations for Brachydactyly, Type E2

ClinVar genetic disease variations for Brachydactyly, Type E2:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTHLH NM_198965.2(PTHLH):c.179T>C (p.Leu60Pro)SNV Pathogenic 13738 rs267606985 12:28116626-28116626 12:27963693-27963693
2 PTHLH NM_198965.2(PTHLH):c.131T>C (p.Leu44Pro)SNV Pathogenic 13739 rs267606986 12:28116674-28116674 12:27963741-27963741
3 PTHLH NM_198965.2(PTHLH):c.534A>G (p.Ter178Trp)SNV Pathogenic 13740 rs267606987 12:28111492-28111492 12:27958559-27958559
4 PTHLH NM_198965.2(PTHLH):c.358A>T (p.Lys120Ter)SNV Pathogenic 13741 rs267606988 12:28116447-28116447 12:27963514-27963514

UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type E2:

73
# Symbol AA change Variation ID SNP ID
1 PTHLH p.Leu44Pro VAR_063711 rs267606986
2 PTHLH p.Leu60Pro VAR_063712 rs267606985

Expression for Brachydactyly, Type E2

Search GEO for disease gene expression data for Brachydactyly, Type E2.

Pathways for Brachydactyly, Type E2

GO Terms for Brachydactyly, Type E2

Biological processes related to Brachydactyly, Type E2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-dependent protein catabolic process GO:0006511 9.5 UBE2D4 RNF7 RMND5B
2 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.33 UBE2W UBE2U RMND5B
3 protein K11-linked ubiquitination GO:0070979 9.26 UBE2W UBE2D4
4 protein ubiquitination GO:0016567 9.1 ZNRF2 UBE2W UBE2U UBE2D4 RNF7 RMND5B
5 protein neddylation GO:0045116 8.96 UBE2F RNF7

Molecular functions related to Brachydactyly, Type E2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.72 UBE2W UBE2U UBE2F UBE2D4 SNRNP200
2 transferase activity GO:0016740 9.63 ZNRF2 UBE2W UBE2U UBE2F UBE2D4 RMND5B
3 ubiquitin-protein transferase activity GO:0004842 9.43 UBE2W UBE2D4 RMND5B
4 NEDD8 transferase activity GO:0019788 8.96 UBE2F RNF7
5 ubiquitin conjugating enzyme activity GO:0061631 8.8 UBE2W UBE2U UBE2D4

Sources for Brachydactyly, Type E2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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