BDE2
MCID: BRC060
MIFTS: 42

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 57 13 72
Brachydactyly Type E2 12 29 6 15 40
Bde2 57 12 74
Brachydactyly E2 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
brachydactyly, type e2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110976
OMIM 57 613382
MeSH 44 D059327
MedGen 42 C3150644
UMLS 72 C3150644

Summaries for Brachydactyly, Type E2

UniProtKB/Swiss-Prot : 74 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 pseudopseudohypoparathyroidism and hypocalciuric hypercalcemia, familial, type iii. An important gene associated with Brachydactyly, Type E2 is PTHLH (Parathyroid Hormone Like Hormone), and among its related pathways/superpathways are Integrin Pathway and Response to elevated platelet cytosolic Ca2+. 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

Diseases in the Brachydactyly family:

Brachydactyly, Type A1 Brachydactyly, Type A2
Brachydactyly, Type A3 Brachydactyly, Type A4
Brachydactyly, Type B1 Brachydactyly, Type C
Brachydactyly, Type D Brachydactyly, Type E1
Brachydactyly, Type A1, B Brachydactyly, Type B2
Brachydactyly, Type E2 Brachydactyly, Type A1, C
Brachydactyly, Type A1, D Brachydactyly Type A5
Brachydactyly Type A7

Diseases related to Brachydactyly, Type E2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 pseudopseudohypoparathyroidism 30.7 GNAS GNA11
2 hypocalciuric hypercalcemia, familial, type iii 10.5 PTHLH GNA11
3 pseudohypoparathyroidism 10.5 PTHLH GNAS
4 brachydactyly, type e1 10.5 UBR5 PTHLH
5 juxtacortical osteosarcoma 10.5 PTHLH GNAS
6 peripheral osteosarcoma 10.4 PTHLH GNAS
7 charcot-marie-tooth disease, dominant intermediate f 10.3 GNA15 GNA11
8 pseudohypoparathyroidism, type ib 10.3 PTHLH GNAS
9 brachydactyly 10.2
10 dowling-degos disease 1 10.2 GNAS EDN1
11 hypocalcemia, autosomal dominant 1 10.1 GNAS GNA11
12 dyschromatosis universalis hereditaria 10.1 GNA15 GNA11
13 coronary artery vasospasm 10.1 NOS3 EDN1
14 chronic mountain sickness 10.0 NOS3 EDN1
15 aortic coarctation 10.0 NOS3 EDN1
16 persistent fetal circulation syndrome 10.0 NOS3 EDN1
17 lymphocytic vasculitis 10.0 VCAM1 ICAM1
18 cortical thymoma 10.0 VCAM1 ICAM1
19 hepatic vascular disease 10.0 NOS3 EDN1
20 mooren's ulcer 10.0 VCAM1 ICAM1
21 shwartzman phenomenon 10.0 VCAM1 ICAM1
22 subendocardial myocardial infarction 10.0 VCAM1 ICAM1
23 maturity-onset diabetes of the young, type 7 10.0 VCAM1 GNA15 GNA11
24 sexual disorder 10.0 NOS3 EDN1
25 actinic prurigo 10.0 VCAM1 ICAM1
26 peripheral artery disease 10.0 VCAM1 NOS3
27 immune-complex glomerulonephritis 10.0 VCAM1 ICAM1
28 rheumatoid vasculitis 10.0 VCAM1 ICAM1
29 limbal stem cell deficiency 9.9 VCAM1 ICAM1
30 leukostasis 9.9 VCAM1 ICAM1
31 renovascular hypertension 9.9 NOS3 EDN1
32 angina pectoris 9.9 NOS3 EDN1
33 arteriosclerosis obliterans 9.9 VCAM1 ICAM1
34 acute mountain sickness 9.9 NOS3 EDN1
35 hydrocele 9.9 PECAM1 ICAM1
36 henoch-schoenlein purpura 9.9 VCAM1 ICAM1
37 chronic venous insufficiency 9.9 VCAM1 ICAM1
38 venous insufficiency 9.9 VCAM1 ICAM1
39 hepatopulmonary syndrome 9.9 NOS3 EDN1
40 crescentic glomerulonephritis 9.8 VCAM1 ICAM1
41 oral lichen planus 9.8 VCAM1 ICAM1
42 diabetic macular edema 9.8 NOS3 ICAM1
43 dengue disease 9.7 VCAM1 ICAM1
44 acute chest syndrome 9.7 VCAM1 NOS3 EDN1
45 vascular disease 9.6 VCAM1 NOS3 EDN1
46 primary progressive multiple sclerosis 9.6 VCAM1 ICAM1
47 nonarteritic anterior ischemic optic neuropathy 9.6 NOS3 EDN1
48 microvascular complications of diabetes 5 9.5 VCAM1 NOS3 ICAM1
49 atherosclerosis susceptibility 9.5 VCAM1 NOS3 ICAM1
50 microvascular complications of diabetes 1 9.4 VCAM1 ICAM1 EDN1

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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 delayed eruption of teeth 32 occasional (7.5%) HP:0000684
2 oligodontia 32 occasional (7.5%) HP:0000677
3 short stature 32 HP:0004322
4 brachydactyly 32 HP:0001156
5 short metacarpal 32 HP:0010049
6 short metatarsal 32 HP:0010743

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Brachydactyly, Type E2:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 EDN1 GNA11 GNAS ICAM1 NOS3 PECAM1
2 homeostasis/metabolism MP:0005376 10.13 EDN1 GNA11 GNAS ICAM1 NOS3 PECAM1
3 growth/size/body region MP:0005378 10.11 EDN1 GNA11 GNAS ICAM1 NOS3 PTHLH
4 cellular MP:0005384 10.1 GNAS ICAM1 NOS3 PECAM1 PTHLH UBR5
5 hematopoietic system MP:0005397 10.04 GNA11 GNAS ICAM1 NOS3 PECAM1 PTHLH
6 mortality/aging MP:0010768 10.01 EDN1 GNA11 GNAS ICAM1 NOS3 PTHLH
7 endocrine/exocrine gland MP:0005379 10 EDN1 GNA11 GNAS ICAM1 NOS3 PTHLH
8 immune system MP:0005387 10 GNA11 GNAS ICAM1 NOS3 PECAM1 PTHLH
9 craniofacial MP:0005382 9.95 EDN1 GNA11 GNAS PTHLH UBR5
10 digestive/alimentary MP:0005381 9.93 EDN1 ICAM1 NOS3 PECAM1 PTHLH
11 nervous system MP:0003631 9.87 EDN1 GNA11 GNAS ICAM1 NOS3 PTHLH
12 muscle MP:0005369 9.85 EDN1 GNA11 GNAS ICAM1 NOS3 PECAM1
13 liver/biliary system MP:0005370 9.83 GNA11 GNAS NOS3 PECAM1 PTHLH
14 normal MP:0002873 9.73 EDN1 GNA11 GNA15 GNAS NOS3 PTHLH
15 renal/urinary system MP:0005367 9.63 EDN1 GNA11 GNAS NOS3 PECAM1 PTHLH
16 respiratory system MP:0005388 9.35 GNA11 GNAS NOS3 PECAM1 PTHLH
17 skeleton MP:0005390 9.1 EDN1 GNA11 GNAS NOS3 PECAM1 PTHLH

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:

41
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. 8 71
20170896 2010
2
A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. 8
20015959 2010
3
[Mutation analysis of a pedigree affected with brachydactyly type E2 and obesity]. 38
30835359 2019
4
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism. 38
29947179 2018

Variations for Brachydactyly, Type E2

ClinVar genetic disease variations for Brachydactyly, Type E2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PTHLH NM_198965.2(PTHLH): c.179T> C (p.Leu60Pro) single nucleotide variant Pathogenic rs267606985 12:28116626-28116626 12:27963693-27963693
2 PTHLH NM_198965.2(PTHLH): c.131T> C (p.Leu44Pro) single nucleotide variant Pathogenic rs267606986 12:28116674-28116674 12:27963741-27963741
3 PTHLH NM_198965.2(PTHLH): c.534A> G (p.Ter178Trp) single nucleotide variant Pathogenic rs267606987 12:28111492-28111492 12:27958559-27958559
4 PTHLH NM_198965.2(PTHLH): c.358A> T (p.Lys120Ter) single nucleotide variant Pathogenic rs267606988 12:28116447-28116447 12:27963514-27963514

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

74
# 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

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

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 VCAM1 PECAM1 ICAM1 GNAS GNA15 GNA11
2
Show member pathways
13.11 PECAM1 NOS3 GNAS GNA15 GNA11
3
Show member pathways
12.88 NOS3 GNAS GNA15 GNA11
4
Show member pathways
12.87 VCAM1 GNAS GNA15 GNA11
5
Show member pathways
12.84 NOS3 GNAS GNA15 GNA11
6
Show member pathways
12.83 NOS3 GNAS GNA15 GNA11
7
Show member pathways
12.78 NOS3 GNAS GNA15 GNA11 EDN1
8
Show member pathways
12.73 NOS3 GNAS GNA11 EDN1
9
Show member pathways
12.67 GNAS GNA15 GNA11 EDN1
10
Show member pathways
12.46 VCAM1 PECAM1 NOS3 ICAM1
11
Show member pathways
12.31 GNAS GNA15 GNA11
12 12.26 GNAS GNA15 GNA11
13
Show member pathways
12.22 VCAM1 NOS3 ICAM1
14
Show member pathways
12.21 GNAS GNA15 GNA11
15
Show member pathways
12.18 GNAS GNA15 GNA11
16
Show member pathways
12.13 GNAS GNA15 GNA11
17
Show member pathways
12.09 PECAM1 NOS3 GNAS
18
Show member pathways
12 NOS3 GNAS GNA15 GNA11
19
Show member pathways
11.99 VCAM1 PECAM1 ICAM1
20 11.96 VCAM1 PECAM1 ICAM1
21
Show member pathways
11.87 NOS3 GNAS GNA11
22
Show member pathways
11.86 NOS3 GNAS GNA15 GNA11
23 11.79 VCAM1 ICAM1 EDN1
24 11.76 PTHLH GNAS GNA11
25 11.74 GNAS GNA15 GNA11
26
Show member pathways
11.74 VCAM1 PECAM1 ICAM1 GNAS GNA15 GNA11
27 11.73 GNAS GNA15 GNA11
28 11.68 NOS3 GNAS GNA11
29 11.56 VCAM1 NOS3 ICAM1 EDN1
30 11.5 VCAM1 PECAM1 NOS3 ICAM1 EDN1
31 11.38 GNAS GNA15 GNA11
32 11.34 VCAM1 PECAM1 ICAM1
33 11.32 VCAM1 ICAM1
34 11.31 GNAS GNA15 GNA11
35 11.26 VCAM1 NOS3 ICAM1
36 11.22 GNAS GNA15 GNA11
37 11.22 VCAM1 ICAM1
38 11.17 GNA15 GNA11
39 11.14 PTHLH GNAS GNA11
40 11.12 GNAS GNA15 GNA11
41 10.82 VCAM1 ICAM1
42
Show member pathways
10.81 GNA15 GNA11
43 10.46 NOS3 GNAS GNA15 EDN1

GO Terms for Brachydactyly, Type E2

Cellular components related to Brachydactyly, Type E2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.8 GNAS GNA15 GNA11

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.91 PTHLH GNAS GNA15 GNA11 EDN1
2 extracellular matrix organization GO:0030198 9.7 VCAM1 PECAM1 ICAM1
3 response to hypoxia GO:0001666 9.67 VCAM1 ICAM1 EDN1
4 cellular response to tumor necrosis factor GO:0071356 9.63 VCAM1 ICAM1 EDN1
5 response to ionizing radiation GO:0010212 9.6 VCAM1 ICAM1
6 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.59 VCAM1 ICAM1
7 positive regulation of nitric oxide biosynthetic process GO:0045429 9.58 ICAM1 EDN1
8 response to nicotine GO:0035094 9.58 VCAM1 EDN1
9 response to amino acid GO:0043200 9.57 ICAM1 EDN1
10 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.56 NOS3 ICAM1
11 endothelial cell migration GO:0043542 9.55 PECAM1 NOS3
12 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway GO:0051482 9.54 GNA15 EDN1
13 regulation of blood vessel size GO:0050880 9.48 NOS3 EDN1
14 response to lipopolysaccharide GO:0032496 9.46 VCAM1 NOS3 ICAM1 EDN1
15 negative regulation of calcium ion transport GO:0051926 9.43 NOS3 ICAM1
16 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.43 GNAS GNA15 GNA11
17 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.4 GNA15 GNA11
18 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.37 NOS3 EDN1
19 membrane to membrane docking GO:0022614 9.32 VCAM1 ICAM1
20 skeletal system development GO:0001501 9.26 PTHLH GNAS GNA11 EDN1
21 leukocyte cell-cell adhesion GO:0007159 8.8 VCAM1 PECAM1 ICAM1

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 9.33 GNAS GNA15 GNA11
2 G-protein beta/gamma-subunit complex binding GO:0031683 9.13 GNAS GNA15 GNA11
3 guanyl nucleotide binding GO:0019001 8.8 GNAS GNA15 GNA11

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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