BDE2
MCID: BRC060
MIFTS: 45

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 58 13 74
Brachydactyly Type E2 12 30 6 15 41
Bde2 58 12 76
Brachydactyly E2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
brachydactyly, type e2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110976
OMIM 58 613382
MeSH 45 D059327
MedGen 43 C3150644
UMLS 74 C3150644

Summaries for Brachydactyly, Type E2

UniProtKB/Swiss-Prot : 76 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 kidney, 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.

Description 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 60)
# Related Disease Score Top Affiliating Genes
1 pseudopseudohypoparathyroidism 30.4 GNA11 GNAS
2 hypocalciuric hypercalcemia, familial, type iii 10.3 GNA11 PTHLH
3 pseudohypoparathyroidism 10.3 GNAS PTHLH
4 brachydactyly, type e1 10.3 PTHLH UBR5
5 juxtacortical osteosarcoma 10.3 GNAS PTHLH
6 peripheral osteosarcoma 10.3 GNAS PTHLH
7 charcot-marie-tooth disease, dominant intermediate f 10.2 GNA11 GNA15
8 pseudohypoparathyroidism, type ib 10.2 GNAS PTHLH
9 dowling-degos disease 1 10.1 EDN1 GNAS
10 hypocalcemia, autosomal dominant 1 10.1 GNA11 GNAS
11 dyschromatosis universalis hereditaria 10.1 GNA11 GNA15
12 coronary artery vasospasm 10.0 EDN1 NOS3
13 chronic mountain sickness 10.0 EDN1 NOS3
14 aortic coarctation 10.0 EDN1 NOS3
15 persistent fetal circulation syndrome 10.0 EDN1 NOS3
16 sexual disorder 10.0 EDN1 NOS3
17 brachydactyly 10.0
18 lymphocytic vasculitis 10.0 ICAM1 VCAM1
19 cortical thymoma 10.0 ICAM1 VCAM1
20 hepatic vascular disease 10.0 EDN1 NOS3
21 mooren's ulcer 10.0 ICAM1 VCAM1
22 shwartzman phenomenon 10.0 ICAM1 VCAM1
23 maturity-onset diabetes of the young, type 7 10.0 GNA11 GNA15 VCAM1
24 subendocardial myocardial infarction 10.0 ICAM1 VCAM1
25 actinic prurigo 10.0 ICAM1 VCAM1
26 peripheral artery disease 10.0 NOS3 VCAM1
27 immune-complex glomerulonephritis 10.0 ICAM1 VCAM1
28 rheumatoid vasculitis 10.0 ICAM1 VCAM1
29 renovascular hypertension 10.0 EDN1 NOS3
30 limbal stem cell deficiency 10.0 ICAM1 VCAM1
31 leukostasis 10.0 ICAM1 VCAM1
32 angina pectoris 10.0 EDN1 NOS3
33 henoch-schoenlein purpura 9.9 ICAM1 VCAM1
34 hydrocele 9.9 ICAM1 PECAM1
35 acute mountain sickness 9.9 EDN1 NOS3
36 arteriosclerosis obliterans 9.9 ICAM1 VCAM1
37 chronic venous insufficiency 9.9 ICAM1 VCAM1
38 ischemic optic neuropathy 9.9 EDN1 NOS3
39 venous insufficiency 9.9 ICAM1 VCAM1
40 hepatopulmonary syndrome 9.9 EDN1 NOS3
41 crescentic glomerulonephritis 9.9 ICAM1 VCAM1
42 dengue disease 9.9 ICAM1 VCAM1
43 diabetic macular edema 9.8 ICAM1 NOS3
44 oral lichen planus 9.8 ICAM1 VCAM1
45 acute chest syndrome 9.8 EDN1 NOS3 VCAM1
46 nonarteritic anterior ischemic optic neuropathy 9.8 EDN1 NOS3
47 vascular disease 9.8 EDN1 NOS3 VCAM1
48 microvascular complications of diabetes 5 9.7 ICAM1 NOS3 VCAM1
49 atherosclerosis susceptibility 9.7 ICAM1 NOS3 VCAM1
50 primary progressive multiple sclerosis 9.7 ICAM1 VCAM1

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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 delayed eruption of teeth 33 occasional (7.5%) HP:0000684
2 oligodontia 33 occasional (7.5%) HP:0000677
3 short stature 33 HP:0004322
4 brachydactyly 33 HP:0001156
5 short metacarpal 33 HP:0010049
6 short metatarsal 33 HP:0010743

Symptoms via clinical synopsis from OMIM:

58
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:

47 (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 30 PTHLH

Anatomical Context for Brachydactyly, Type E2

MalaCards organs/tissues related to Brachydactyly, Type E2:

42
Bone, Kidney

Publications for Brachydactyly, Type E2

Articles related to Brachydactyly, Type E2:

# Title Authors Year
1
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism. ( 29947179 )
2018
2
Deletion and point mutations of PTHLH cause brachydactyly type E. ( 20170896 )
2010

Variations for Brachydactyly, Type E2

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

76
# Symbol AA change Variation ID SNP ID
1 PTHLH p.Leu44Pro VAR_063711 rs267606986
2 PTHLH p.Leu60Pro VAR_063712 rs267606985

ClinVar genetic disease variations for Brachydactyly, Type E2:

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

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 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 GNA11 GNA15 GNAS ICAM1 PECAM1 VCAM1
2
Show member pathways
13.1 GNA11 GNA15 GNAS NOS3 PECAM1
3
Show member pathways
12.88 GNA11 GNA15 GNAS NOS3
4
Show member pathways
12.87 GNA11 GNA15 GNAS VCAM1
5
Show member pathways
12.84 GNA11 GNA15 GNAS NOS3
6
Show member pathways
12.82 GNA11 GNA15 GNAS NOS3
7
Show member pathways
12.78 EDN1 GNA11 GNA15 GNAS NOS3
8
Show member pathways
12.73 EDN1 GNA11 GNAS NOS3
9
Show member pathways
12.66 EDN1 GNA11 GNA15 GNAS
10
Show member pathways
12.46 ICAM1 NOS3 PECAM1 VCAM1
11
Show member pathways
12.3 GNA11 GNA15 GNAS
12 12.25 GNA11 GNA15 GNAS
13
Show member pathways
12.22 ICAM1 NOS3 VCAM1
14
Show member pathways
12.21 GNA11 GNA15 GNAS
15
Show member pathways
12.18 GNA11 GNA15 GNAS
16
Show member pathways
12.13 GNA11 GNA15 GNAS
17
Show member pathways
12.09 GNAS NOS3 PECAM1
18
Show member pathways
11.99 GNA11 GNA15 GNAS NOS3
19
Show member pathways
11.98 ICAM1 PECAM1 VCAM1
20 11.95 ICAM1 PECAM1 VCAM1
21
Show member pathways
11.87 GNA11 GNAS NOS3
22
Show member pathways
11.86 GNA11 GNA15 GNAS NOS3
23 11.78 EDN1 ICAM1 VCAM1
24 11.76 GNA11 GNAS PTHLH
25
Show member pathways
11.74 GNA11 GNA15 GNAS ICAM1 PECAM1 VCAM1
26 11.73 GNA11 GNA15 GNAS
27 11.71 GNA11 GNA15 GNAS
28 11.68 GNA11 GNAS NOS3
29 11.56 EDN1 ICAM1 NOS3 VCAM1
30 11.5 EDN1 ICAM1 NOS3 PECAM1 VCAM1
31 11.38 GNA11 GNA15 GNAS
32 11.34 ICAM1 PECAM1 VCAM1
33 11.32 ICAM1 VCAM1
34 11.31 GNA11 GNA15 GNAS
35 11.26 ICAM1 NOS3 VCAM1
36 11.22 GNA11 GNA15 GNAS
37 11.21 ICAM1 VCAM1
38 11.17 GNA11 GNA15
39 11.14 GNA11 GNAS PTHLH
40 11.13 GNA11 GNA15 GNAS
41 10.81 ICAM1 VCAM1
42 10.46 EDN1 GNA15 GNAS NOS3

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 GNA11 GNA15 GNAS

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

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 GNA11 GNA15 GNAS
2 G-protein beta/gamma-subunit complex binding GO:0031683 9.13 GNA11 GNA15 GNAS
3 guanyl nucleotide binding GO:0019001 8.8 GNA11 GNA15 GNAS

Sources for Brachydactyly, Type E2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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