BDE1
MCID: BRC109
MIFTS: 44

Brachydactyly, Type E1 (BDE1)

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

Aliases & Classifications for Brachydactyly, Type E1

MalaCards integrated aliases for Brachydactyly, Type E1:

Name: Brachydactyly, Type E1 56
Brachydactyly Type E1 12 29 6 15 39
Brachydactyly Type E 74 52 58 73
Bde1 56 12 73
Brachydactyly, Type E 56 13
Type E Brachydactyly 52 29
Bde 56 73
Brachydactyly, Type E; Bde 56
Brachydactyly E1 73

Characteristics:

Orphanet epidemiological data:

58
brachydactyly type e
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
brachydactyly, type e1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110972
OMIM 56 113300
MeSH 43 D059327
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 72 C0265312
Orphanet 58 ORPHA93387
MedGen 41 C1862102

Summaries for Brachydactyly, Type E1

NIH Rare Diseases : 52 Brachydactyly type E is a genetic disorder that causes some of the bones of the hands or feet to be shorter than expected. Other signs of the disorder may include having very flexible joints ( hyperextensibility ) in the hands and being shorter than family members who do not have the disorder ( short stature ). Brachydactyly type E can be isolated or syndromic. If the disorder is isolated, it means that the person does not have any other health problems or symptoms related to having brachydactyly type E. If brachydactyly type E is syndromic, it means a person has another genetic disease or health issue that includes the shortening of the hand and feet bones as one of its symptoms. Isolated brachydactyly type E is caused by genetic changes (pathogenic variants or mutations ) in the HOXD13 gene . Pathogenic variants in the the PTHLH gene may also cause brachydactyly type E associated with short height. In both of these cases, the disorder is inherited in an autosomal dominant manner. Other genetic changes are known to cause syndromes that include brachydactyly type E as a symptom. In these cases, the inheritance pattern depends on the underlying syndrome. Brachydactyly type E can be diagnosed if a doctor notices very flexible joints of the hands and shortening of the bones in the hands or feet. Genetic testing may be used to rule out genetic syndromes associated with brachydactyly. If brachydactyly type E is isolated and is not causing other physical or health problems, treatment may not be necessary.

MalaCards based summary : Brachydactyly, Type E1, also known as brachydactyly type e1, is related to hypertension and brachydactyly syndrome and brachydactyly, type e2. An important gene associated with Brachydactyly, Type E1 is HOXD13 (Homeobox D13), and among its related pathways/superpathways are Immune response Function of MEF2 in T lymphocytes and Parathyroid hormone synthesis, secretion and action. Affiliated tissues include bone, heart and testes, and related phenotypes are short metacarpal and type e brachydactyly

Disease Ontology : 12 A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has material basis in heterozygous mutation in the HOXD13 gene on chromosome 2q31.

OMIM : 56 Brachydactyly type E comprises one or more shortened metacarpals and metatarsals (summary by Johnson et al., 2003). Another form of brachydactyly type E, BDE2 (613382), is caused by heterozygous mutation in the PTHLH gene (168470) on chromosome 12p11. Also see the hypertension and brachydactyly syndrome (112410). (113300)

UniProtKB/Swiss-Prot : 73 Brachydactyly E1: 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. Brachydactyly type E1 is characterized by shortening limited to fourth metacarpals and/or metatarsals.

Wikipedia : 74 Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means... more...

Related Diseases for Brachydactyly, Type E1

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 E1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 hypertension and brachydactyly syndrome 34.1 PTHLH HOXD13
2 brachydactyly, type e2 32.6 PTHLH HOXD13 DES
3 brachydactyly, type e, with atrial septal defect, type ii 12.5
4 exostoses with anetodermia and brachydactyly, type e 12.4
5 fitzsimmons-guilbert syndrome 12.1
6 chromosome 2q37 deletion syndrome 11.6
7 spondyloperipheral dysplasia 11.3
8 47,xyy 10.8
9 brachydactyly 10.6
10 papillomatosis, confluent and reticulated 10.5
11 syndactyly, type v 10.3 HOXD13 HOXD12
12 brachydactyly-syndactyly syndrome 10.3 HOXD13 HOXD12
13 tibia, hypoplasia or aplasia of, with polydactyly 10.3 HOXD13 HOXD12
14 invasive malignant thymoma 10.2 PTHLH GNAT3
15 congenital limb malformation 10.2
16 chondromyxoid fibroma 10.2 PTHLH DES
17 ovarian small cell carcinoma 10.2 PTHLH DES
18 chlamydia 10.1
19 trachoma 10.1
20 diarrhea 10.1
21 chronic follicular conjunctivitis 10.1
22 conjunctivitis 10.1
23 neuroblastoma 10.1
24 hyperthyroidism 10.1
25 epithelioid leiomyosarcoma 10.1 PTHLH DES
26 brachydactyly, type d 10.1 HOXD13 HOXD12
27 brachydactyly, combined b and e types 10.0
28 hypertelorism 10.0
29 hypertension, essential 10.0
30 kbg syndrome 10.0
31 smith-magenis syndrome 10.0
32 strabismus 10.0
33 cryptorchidism, unilateral or bilateral 10.0
34 spastic ataxia, charlevoix-saguenay type 10.0
35 pseudopseudohypoparathyroidism 10.0
36 alacrima, achalasia, and mental retardation syndrome 10.0
37 autism spectrum disorder 10.0
38 osteomalacia 10.0
39 infant gynecomastia 10.0
40 gynecomastia 10.0
41 gonadal dysgenesis 10.0
42 hypothyroidism 10.0
43 acrodysostosis 10.0
44 heart septal defect 10.0
45 conversion disorder 10.0
46 atrial heart septal defect 10.0
47 dysostosis 10.0
48 acute pancreatitis 10.0
49 turner syndrome 10.0
50 pancreatitis 10.0

Graphical network of the top 20 diseases related to Brachydactyly, Type E1:



Diseases related to Brachydactyly, Type E1

Symptoms & Phenotypes for Brachydactyly, Type E1

Human phenotypes related to Brachydactyly, Type E1:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
2 type e brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0005863
3 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
4 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
5 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
6 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
7 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
8 upper limb asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0100560
9 short metatarsal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010743
10 aplasia/hypoplasia of the distal phalanx of the hallux 58 31 occasional (7.5%) Occasional (29-5%) HP:0010076
11 brachydactyly 31 HP:0001156
12 round face 31 HP:0000311
13 short clavicles 31 HP:0000894
14 moderately short stature 31 HP:0008848
15 multiple impacted teeth 31 HP:0001571
16 straight clavicles 31 HP:0006587

Symptoms via clinical synopsis from OMIM:

56
Limbs:
brachydactyly
short metacarpals
variable short metatarsals

Teeth:
multiple impacted teeth

Skel:
straight and short clavicles

Growth:
moderately short stature

Facies:
round facies

Radiology:
radiologically indistinguishable from the php-pphp syndrome

Clinical features from OMIM:

113300

MGI Mouse Phenotypes related to Brachydactyly, Type E1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.43 BMP5 HOXD12 HOXD13 NABP2 POSTN PTHLH
2 muscle MP:0005369 9.23 DES HOXD12 HOXD13 MEF2A MEF2D POSTN

Drugs & Therapeutics for Brachydactyly, Type E1

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type E1

Genetic Tests for Brachydactyly, Type E1

Genetic tests related to Brachydactyly, Type E1:

# Genetic test Affiliating Genes
1 Brachydactyly Type E1 29 HOXD13
2 Type E Brachydactyly 29

Anatomical Context for Brachydactyly, Type E1

MalaCards organs/tissues related to Brachydactyly, Type E1:

40
Bone, Heart, Testes

Publications for Brachydactyly, Type E1

Articles related to Brachydactyly, Type E1:

(show all 16)
# Title Authors PMID Year
1
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. 6 56
12649808 2003
2
Deletion and point mutations of PTHLH cause brachydactyly type E. 6
20170896 2010
3
Hoxd13 and Hoxa13 directly control the expression of the EphA7 Ephrin tyrosine kinase receptor in developing limbs. 6
16314414 2006
4
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. 6
12620993 2003
5
Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13. 56
8933344 1996
6
Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. 56
7847374 1995
7
Brachydactyly type E: A report of a family. 56
7404233 1980
8
The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis. 56
870942 1977
9
[Hereditary type E brachydactylia. Apropos of a familial case]. 56
165459 1975
10
Roentgenographic manifestations of hereditary peripheral dysostosis. 56
5769301 1969
11
Brachydactyly and pseudo-pseudohypoparathyroidism. 56
5703222 1968
12
The clinical behavior of genetic disease: selected aspects. 56
5889024 1964
13
Short-metacarpal or metatarsal bones: pseudo-pseudohypoparathroidism. 56
14403231 1960
14
Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic. 52
28385908 2017
15
Brachydactyly type E in an Italian family with 6p25 trisomy. 52
28111183 2017
16
Multiple epiphyseal dysplasia in an Old Kingdom Egyptian skeleton: A case report. 61
29539336 2011

Variations for Brachydactyly, Type E1

ClinVar genetic disease variations for Brachydactyly, Type E1:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HOXD13 NM_000523.4(HOXD13):c.744_747del (p.Gln248fs)deletion Pathogenic 689765 2:176958359-176958362 2:176093631-176093634
2 HOXD13 NM_000523.4(HOXD13):c.964A>C (p.Ile322Leu)SNV Pathogenic 14869 rs28928891 2:176959390-176959390 2:176094662-176094662
3 HOXD13 NM_000523.4(HOXD13):c.947C>G (p.Ser316Cys)SNV Pathogenic 14870 rs28928892 2:176959373-176959373 2:176094645-176094645
4 subset of 18 genes: FOXC1 GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3copy number gain Pathogenic 242978 6:255350-3189972

UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type E1:

73
# Symbol AA change Variation ID SNP ID
1 HOXD13 p.Ser316Cys VAR_015952 rs28928892
2 HOXD13 p.Ile322Leu VAR_015953 rs28928891

Copy number variations for Brachydactyly, Type E1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 66276 12 27341677 28249358 Microdeletion PTHLH Brachydactyly type E

Expression for Brachydactyly, Type E1

Search GEO for disease gene expression data for Brachydactyly, Type E1.

Pathways for Brachydactyly, Type E1

Pathways related to Brachydactyly, Type E1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 MEF2D MEF2B MEF2A
2 11.57 PTHLH MEF2D MEF2A
3 11.39 SPHK1 MEF2D MEF2B MEF2A
4 11.2 MEF2D MEF2B MEF2A
5
Show member pathways
11.2 MEF2D MEF2B MEF2A
6 10.91 MEF2D MEF2B MEF2A
7 9.91 MEF2D MEF2B MEF2A

GO Terms for Brachydactyly, Type E1

Cellular components related to Brachydactyly, Type E1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.43 SOX17 MEF2D MEF2B MEF2A HOXD13 HOXD12
2 transcription factor complex GO:0005667 8.92 SOX17 MEF2B MEF2A HOXD12

Biological processes related to Brachydactyly, Type E1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.88 MEF2D MEF2B MEF2A HOXD13 HOXD12 BMP5
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 SOX17 MEF2D MEF2B MEF2A HOXD13 BMP5
3 muscle organ development GO:0007517 9.43 MEF2D MEF2B MEF2A
4 male genitalia development GO:0030539 9.32 HOXD13 BMP5
5 sphingosine-1-phosphate receptor signaling pathway GO:0003376 9.16 SPHK1 S1PR4
6 pattern specification process GO:0007389 9.13 HOXD13 HOXD12 BMP5
7 skeletal system development GO:0001501 8.92 PTHLH HOXD13 HOXD12 BMP5

Molecular functions related to Brachydactyly, Type E1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.03 SPHK1 SOX17 NABP2 MEF2D MEF2B MEF2A
2 transcription factor binding GO:0008134 9.76 SOX17 MEF2D MEF2B MEF2A
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 SOX17 MEF2D MEF2B MEF2A HOXD13 HOXD12
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.67 SOX17 MEF2D MEF2B MEF2A
5 protein dimerization activity GO:0046983 9.65 MEF2D MEF2B MEF2A
6 transcription regulatory region DNA binding GO:0044212 9.62 SOX17 MEF2D MEF2B MEF2A
7 histone deacetylase binding GO:0042826 9.58 MEF2D MEF2B MEF2A
8 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.35 SOX17 MEF2D MEF2B MEF2A HOXD13
9 sphingosine-1-phosphate receptor activity GO:0038036 9.16 SPHK1 S1PR4
10 sequence-specific DNA binding GO:0043565 9.1 SOX17 MEF2D MEF2B MEF2A HOXD13 HOXD12

Sources for Brachydactyly, Type E1

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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