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 57 13 73
Brachydactyly Type E2 12 29 6 15 40
Bde2 57 12 75
Brachydactyly E2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
brachydactyly, type e2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613382
Disease Ontology 12 DOID:0110976
MedGen 42 C3150644
MeSH 44 D059327
UMLS 73 C3150644

Summaries for Brachydactyly, Type E2

UniProtKB/Swiss-Prot : 75 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 Sweet Taste Signaling. Affiliated tissues include bone and kidney, and related phenotypes are short stature and delayed eruption of teeth

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 58)
# Related Disease Score Top Affiliating Genes
1 pseudopseudohypoparathyroidism 30.2 GNA11 GNAS
2 hypocalciuric hypercalcemia, familial, type iii 10.2 GNA11 PTHLH
3 brachydactyly, type e1 10.2 PTHLH UBR5
4 pseudohypoparathyroidism 10.2 GNAS PTHLH
5 juxtacortical osteosarcoma 10.2 GNAS PTHLH
6 peripheral osteosarcoma 10.1 GNAS PTHLH
7 charcot-marie-tooth disease, dominant intermediate f 10.1 GNA11 GNA15
8 pseudohypoparathyroidism, type ib 10.1 GNAS PTHLH
9 dowling-degos disease 1 10.1 EDN1 GNAS
10 hypocalcemia, autosomal dominant 1 10.0 GNA11 GNAS
11 coronary artery vasospasm 10.0 EDN1 NOS3
12 chronic mountain sickness 10.0 EDN1 NOS3
13 aortic coarctation 10.0 EDN1 NOS3
14 persistent fetal circulation syndrome 10.0 EDN1 NOS3
15 sexual disorder 10.0 EDN1 NOS3
16 dyschromatosis universalis hereditaria 10.0 GNA11 GNA15
17 hepatic vascular disease 10.0 EDN1 NOS3
18 brachydactyly 10.0
19 peripheral artery disease 10.0 NOS3 VCAM1
20 renovascular hypertension 10.0 EDN1 NOS3
21 lymphocytic vasculitis 10.0 ICAM1 VCAM1
22 cortical thymoma 10.0 ICAM1 VCAM1
23 mooren's ulcer 10.0 ICAM1 VCAM1
24 shwartzman phenomenon 10.0 ICAM1 VCAM1
25 angina pectoris 10.0 EDN1 NOS3
26 subendocardial myocardial infarction 10.0 ICAM1 VCAM1
27 actinic prurigo 10.0 ICAM1 VCAM1
28 immune-complex glomerulonephritis 10.0 ICAM1 VCAM1
29 acute mountain sickness 10.0 EDN1 NOS3
30 rheumatoid vasculitis 10.0 ICAM1 VCAM1
31 limbal stem cell deficiency 10.0 ICAM1 VCAM1
32 maturity-onset diabetes of the young, type 7 10.0 GNA11 GNA15 VCAM1
33 leukostasis 10.0 ICAM1 VCAM1
34 ischemic optic neuropathy 10.0 EDN1 NOS3
35 henoch-schoenlein purpura 9.9 ICAM1 VCAM1
36 hepatopulmonary syndrome 9.9 EDN1 NOS3
37 arteriosclerosis obliterans 9.9 ICAM1 VCAM1
38 chronic venous insufficiency 9.9 ICAM1 VCAM1
39 venous insufficiency 9.9 ICAM1 VCAM1
40 crescentic glomerulonephritis 9.9 ICAM1 VCAM1
41 diabetic macular edema 9.9 ICAM1 NOS3
42 dengue disease 9.9 ICAM1 VCAM1
43 oral lichen planus 9.9 ICAM1 VCAM1
44 acute chest syndrome 9.9 EDN1 NOS3 VCAM1
45 nonarteritic anterior ischemic optic neuropathy 9.9 EDN1 NOS3
46 vascular disease 9.8 EDN1 NOS3 VCAM1
47 microvascular complications of diabetes 5 9.8 ICAM1 NOS3 VCAM1
48 atherosclerosis susceptibility 9.8 ICAM1 NOS3 VCAM1
49 primary progressive multiple sclerosis 9.8 ICAM1 VCAM1
50 limb ischemia 9.8 EDN1 NOS3

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



Diseases related to Brachydactyly, Type E2

Symptoms & Phenotypes for Brachydactyly, Type E2

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

Human phenotypes related to Brachydactyly, Type E2:

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

MGI Mouse Phenotypes related to Brachydactyly, Type E2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 EDN1 GNA11 GNAS ICAM1 NOS3 PTHLH
2 growth/size/body region MP:0005378 10.01 EDN1 GNA11 GNAS ICAM1 NOS3 PTHLH
3 homeostasis/metabolism MP:0005376 9.97 EDN1 GNA11 GNAS ICAM1 NOS3 PTHLH
4 mortality/aging MP:0010768 9.92 EDN1 GNA11 GNAS ICAM1 NOS3 PTHLH
5 endocrine/exocrine gland MP:0005379 9.91 EDN1 GNA11 GNAS ICAM1 NOS3 PTHLH
6 craniofacial MP:0005382 9.85 EDN1 GNA11 GNAS PTHLH UBR5
7 nervous system MP:0003631 9.7 EDN1 GNA11 GNAS ICAM1 NOS3 PTHLH
8 muscle MP:0005369 9.65 EDN1 GNA11 GNAS ICAM1 NOS3
9 normal MP:0002873 9.43 EDN1 GNA11 GNA15 GNAS NOS3 PTHLH
10 renal/urinary system MP:0005367 9.02 EDN1 GNA11 GNAS NOS3 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, 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

Variations for Brachydactyly, Type E2

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

75
# 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 VCAM1
2
Show member pathways
12.85 GNA11 GNA15 GNAS NOS3
3
Show member pathways
12.85 GNA11 GNA15 GNAS VCAM1
4
Show member pathways
12.81 GNA11 GNA15 GNAS NOS3
5
Show member pathways
12.8 GNA11 GNA15 GNAS NOS3
6
Show member pathways
12.76 EDN1 GNA11 GNA15 GNAS NOS3
7
Show member pathways
12.71 EDN1 GNA11 GNAS NOS3
8
Show member pathways
12.64 EDN1 GNA11 GNA15 GNAS
9
Show member pathways
12.35 GNA11 GNAS NOS3
10
Show member pathways
12.29 GNA11 GNA15 GNAS
11 12.24 GNA11 GNA15 GNAS
12
Show member pathways
12.23 EDN1 GNA11 GNAS
13
Show member pathways
12.2 ICAM1 NOS3 VCAM1
14
Show member pathways
12.18 GNA11 GNA15 GNAS
15
Show member pathways
12.15 GNA11 GNA15 GNAS
16
Show member pathways
12.11 GNA11 GNA15 GNAS
17
Show member pathways
11.96 GNA11 GNA15 GNAS ICAM1 VCAM1
18
Show member pathways
11.94 GNA11 GNA15 GNAS NOS3
19
Show member pathways
11.85 GNA11 GNAS NOS3
20
Show member pathways
11.79 GNA11 GNA15 GNAS NOS3
21 11.77 EDN1 ICAM1 VCAM1
22 11.74 GNA11 GNAS PTHLH
23 11.71 GNA11 GNA15 GNAS
24 11.68 GNA11 GNA15 GNAS
25 11.65 GNA11 GNAS NOS3
26 11.6 EDN1 ICAM1 NOS3 VCAM1
27 11.55 GNA11 GNA15 GNAS
28 11.42 EDN1 NOS3
29 11.37 ICAM1 VCAM1
30 11.36 GNA11 GNA15 GNAS
31 11.32 ICAM1 VCAM1
32 11.29 GNA11 GNA15 GNAS
33 11.25 EDN1 ICAM1 NOS3 VCAM1
34 11.23 ICAM1 NOS3 VCAM1
35 11.21 GNA11 GNA15 GNAS
36 11.17 ICAM1 VCAM1
37 11.15 GNA11 GNA15
38 11.11 GNA11 GNA15 GNAS
39 11.09 GNA11 GNAS PTHLH
40
Show member pathways
10.8 GNA11 GNA15
41 10.79 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 20)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.88 EDN1 GNA11 GNA15 GNAS PTHLH
2 response to drug GO:0042493 9.77 EDN1 GNAS ICAM1
3 response to hypoxia GO:0001666 9.67 EDN1 ICAM1 VCAM1
4 cellular response to tumor necrosis factor GO:0071356 9.61 EDN1 ICAM1 VCAM1
5 response to ionizing radiation GO:0010212 9.58 ICAM1 VCAM1
6 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.58 ICAM1 VCAM1
7 positive regulation of nitric oxide biosynthetic process GO:0045429 9.57 EDN1 ICAM1
8 response to nicotine GO:0035094 9.56 EDN1 VCAM1
9 response to amino acid GO:0043200 9.55 EDN1 ICAM1
10 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.54 ICAM1 NOS3
11 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway GO:0051482 9.52 EDN1 GNA15
12 leukocyte cell-cell adhesion GO:0007159 9.51 ICAM1 VCAM1
13 regulation of blood vessel size GO:0050880 9.46 EDN1 NOS3
14 negative regulation of calcium ion transport GO:0051926 9.4 ICAM1 NOS3
15 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.37 GNA11 GNA15
16 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.33 GNA11 GNA15 GNAS
17 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.32 EDN1 NOS3
18 membrane to membrane docking GO:0022614 9.26 ICAM1 VCAM1
19 response to lipopolysaccharide GO:0032496 9.26 EDN1 ICAM1 NOS3 VCAM1
20 skeletal system development GO:0001501 8.92 EDN1 GNA11 GNAS PTHLH

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

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.43 GNA11 GNA15 GNAS
2 G protein-coupled receptor binding GO:0001664 9.33 GNA11 GNA15 GNAS
3 G-protein beta/gamma-subunit complex binding GO:0031683 9.13 GNA11 GNA15 GNAS
4 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....