BDE1
MCID: BRC109
MIFTS: 51

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 57
Brachydactyly Type E1 12 29 6 15 40
Brachydactyly Type E 76 53 59 75
Bde1 57 12 75
Brachydactyly, Type E 57 13
Type E Brachydactyly 53 29
Bde 57 75
Brachydactyly, Type E; Bde 57
Brachydactyly E1 75
Bd Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
brachydactyly type e
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
brachydactyly, type e1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 113300
Disease Ontology 12 DOID:0110972
Orphanet 59 ORPHA93387
UMLS via Orphanet 74 C0265312
ICD10 via Orphanet 34 Q73.8
MedGen 42 C1862102
MeSH 44 D059327

Summaries for Brachydactyly, Type E1

NIH Rare Diseases : 53 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 brachydactyly, type e2 and brachydactyly. An important gene associated with Brachydactyly, Type E1 is HOXD13 (Homeobox D13), and among its related pathways/superpathways are S1P3 pathway and Interleukin-4 and 13 signaling. Affiliated tissues include bone, heart and testes, and related phenotypes are macrocephaly and frontal bossing

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.

UniProtKB/Swiss-Prot : 75 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 : 76 Brachydactyly (Greek βρα�?ύ�? = "short" plus δάκ�?�?λο�? = "finger"), is a medical term which literally... more...

Description from OMIM: 113300

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 73)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type e2 32.0 PTHLH UBR5
2 brachydactyly 31.0 PTHLH PTCH1 HOXD13
3 exostoses with anetodermia and brachydactyly, type e 12.3
4 brachydactyly, type e, with atrial septal defect, type ii 12.2
5 hypertension and brachydactyly syndrome 12.1
6 fitzsimmons-guilbert syndrome 11.5
7 chromosome 2q37 deletion syndrome 11.4
8 intellectual disability - athetosis - microphthalmia 11.4
9 brachydactyly, combined b and e types 11.1
10 spondyloperipheral dysplasia 11.1
11 ovarian small cell carcinoma 10.2 PTHLH MUC1
12 bile duct adenoma 10.2 MUC1 KRT20
13 bile duct cystadenocarcinoma 10.2 MUC1 KRT20
14 paget disease, extramammary 10.2 KRT20 MUC1
15 mucinous bronchioloalveolar adenocarcinoma 10.2 KRT20 MUC1
16 ampulla of vater adenocarcinoma 10.2 KRT20 MUC1
17 hidradenoma 10.2 MUC1 AKT1
18 villous adenoma 10.1 KRT20 MUC1
19 lymphoepithelioma-like carcinoma 10.1 KRT20 MUC1
20 dysgerminoma 10.1 PTHLH MUC1 KRT20
21 colonic benign neoplasm 10.1 PTGS2 AREG
22 dermoid cyst 10.1 KRT20 MUC1
23 morpheaform basal cell carcinoma 10.1 KRT20 KRT19
24 keratocystic odontogenic tumor 10.1 PTHLH PTGS2 PTCH1
25 renal pelvis carcinoma 10.1 KRT20 KRT19
26 mucinous tubular and spindle renal cell carcinoma 10.1 KRT19 MUC1
27 malignant struma ovarii 10.1 PTCH1 KRT19
28 cystadenofibroma 10.1 KRT20 MUC1
29 ductal carcinoma in situ 10.1 PTGS2 MUC1 AKT1
30 colloid carcinoma of the pancreas 10.1 KRT19 MUC1
31 limbal stem cell deficiency 10.0 KRT19 MUC1
32 biliary papillomatosis 10.0 MUC1 KRT20 KRT19
33 gallbladder cancer 10.0 PTGS2 MUC1 AKT1
34 papillary carcinoma 10.0 MUC1 KRT20 KRT19
35 ovary epithelial cancer 10.0 MUC1 AREG AKT1
36 malignant ovarian surface epithelial-stromal neoplasm 10.0 MUC1 AREG AKT1
37 intrahepatic cholangiocarcinoma 10.0 MUC1 KRT20 KRT19
38 lipoadenoma 10.0 KRT19 MUC1
39 hypochondroplasia 10.0
40 neutrophil actin dysfunction 10.0
41 chlamydia 10.0
42 chronic follicular conjunctivitis 10.0
43 conjunctivitis 10.0
44 charles bonnet syndrome 10.0
45 colonic disease 10.0 PTGS2 AREG AKT1
46 stomach disease 10.0 PTGS2 AREG AKT1
47 intestinal disease 10.0 PTGS2 AREG AKT1
48 reproductive system disease 10.0 PTGS2 AREG AKT1
49 gastrointestinal system disease 10.0 PTGS2 AREG AKT1
50 small cell cancer of the lung 10.0 KRT20 KRT19 AKT1

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



Diseases related to Brachydactyly, Type E1

Symptoms & Phenotypes for Brachydactyly, Type E1

Symptoms via clinical synopsis from OMIM:

57
Limbs:
brachydactyly
short metacarpals
variable short metatarsals

Facies:
round facies

Skel:
straight and short clavicles

Growth:
moderately short stature

Teeth:
multiple impacted teeth

Radiology:
radiologically indistinguishable from the php-pphp syndrome


Clinical features from OMIM:

113300

Human phenotypes related to Brachydactyly, Type E1:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
3 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
4 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
5 short distal phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009882
6 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
7 upper limb asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0100560
8 short metatarsal 59 32 occasional (7.5%) Occasional (29-5%) HP:0010743
9 type e brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0005863
10 aplasia/hypoplasia of the distal phalanx of the hallux 59 32 occasional (7.5%) Occasional (29-5%) HP:0010076
11 brachydactyly 32 HP:0001156
12 round face 32 HP:0000311
13 short clavicles 32 HP:0000894
14 moderately short stature 32 HP:0008848
15 multiple impacted teeth 32 HP:0001571
16 straight clavicles 32 HP:0006587

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

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 PTCH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.72 PTGS2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.72 PTGS2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.72 HOXD13
5 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.72 HOXD13
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.72 AKT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 AKT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.72 HOXD13 PTCH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.72 PTCH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.72 HOXD13
11 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.72 HOXD13
12 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.72 HOXD13
13 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 AKT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.72 HOXD13
15 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.72 AKT1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.72 PTGS2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 HOXD13 PTCH1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.72 AKT1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.72 AKT1 HOXD13 PTCH1 PTGS2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 AKT1

MGI Mouse Phenotypes related to Brachydactyly, Type E1:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 AKT1 AREG KRT19 POSTN PTCH1 PTGS2
2 cellular MP:0005384 10.16 AKT1 KRT19 POSTN PTCH1 PTGS2 PTHLH
3 endocrine/exocrine gland MP:0005379 10.16 AKT1 AREG HOXD13 KRT19 POSTN PTCH1
4 growth/size/body region MP:0005378 10.13 AKT1 AREG HOXD13 KRT19 POSTN PTCH1
5 mortality/aging MP:0010768 10.11 AKT1 AREG HOXD13 KRT19 POSTN PTCH1
6 embryo MP:0005380 10.08 AKT1 HOXD13 KRT19 PTCH1 PTGS2 SOX17
7 digestive/alimentary MP:0005381 10.04 AREG HOXD13 KRT19 PTCH1 PTGS2 PTHLH
8 integument MP:0010771 9.95 AKT1 AREG HOXD13 KRT19 PTCH1 PTGS2
9 muscle MP:0005369 9.87 AKT1 HOXD13 POSTN PTCH1 PTGS2 SOX17
10 neoplasm MP:0002006 9.73 AKT1 KRT19 POSTN PTCH1 PTGS2 PTHLH
11 normal MP:0002873 9.7 AKT1 KRT19 PTCH1 PTGS2 PTHLH SOX17
12 reproductive system MP:0005389 9.61 AKT1 AREG HOXD13 KRT19 POSTN PTCH1
13 skeleton MP:0005390 9.17 AKT1 HOXD13 KRT19 POSTN PTCH1 PTGS2

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:

41
Bone, Heart, Testes, Lung, Colon, Pancreas, Thymus

Publications for Brachydactyly, Type E1

Articles related to Brachydactyly, Type E1:

(show all 20)
# Title Authors Year
1
The p.R56* mutation in PTHLH causes variable brachydactyly type E. ( 28211986 )
2017
2
Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic. ( 28385908 )
2017
3
Brachydactyly type E in an Italian family with 6p25 trisomy. ( 28111183 )
2017
4
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. ( 26733284 )
2016
5
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. ( 26640227 )
2016
6
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene. ( 26763883 )
2016
7
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. ( 25801215 )
2015
8
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. ( 25402011 )
2014
9
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. ( 22233338 )
2012
10
A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. ( 20015959 )
2010
11
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. ( 20691407 )
2010
12
Deletion and point mutations of PTHLH cause brachydactyly type E. ( 20170896 )
2010
13
Is brachydactyly type Ballard a variant of brachydactyly type E? ( 15266625 )
2004
14
Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome? ( 15658617 )
2004
15
Glypican 1 gene: good candidate for brachydactyly type E. ( 11920836 )
2002
16
Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome? ( 10323731 )
1999
17
Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension. ( 9696728 )
1998
18
Familial combination of brachydactyly, type E and atrial septal defect, type II. ( 2591402 )
1989
19
Brachydactyly type E: A report of a family. ( 7404233 )
1980
20
Brachydactyly, type E: hereditary shortening of digits, metacarpals, metatarsals, and long bones. ( 4810735 )
1974

Variations for Brachydactyly, Type E1

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

75
# Symbol AA change Variation ID SNP ID
1 HOXD13 p.Ser316Cys VAR_015952 rs28928892
2 HOXD13 p.Ile322Leu VAR_015953 rs28928891

ClinVar genetic disease variations for Brachydactyly, Type E1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXD13 NM_000523.3(HOXD13): c.964A> C (p.Ile322Leu) single nucleotide variant Pathogenic rs28928891 GRCh37 Chromosome 2, 176959390: 176959390
2 HOXD13 NM_000523.3(HOXD13): c.964A> C (p.Ile322Leu) single nucleotide variant Pathogenic rs28928891 GRCh38 Chromosome 2, 176094662: 176094662
3 HOXD13 NM_000523.3(HOXD13): c.947C> G (p.Ser316Cys) single nucleotide variant Pathogenic rs28928892 GRCh37 Chromosome 2, 176959373: 176959373
4 HOXD13 NM_000523.3(HOXD13): c.947C> G (p.Ser316Cys) single nucleotide variant Pathogenic rs28928892 GRCh38 Chromosome 2, 176094645: 176094645
5 subset of 18 genes:FOXC1 GRCh37/hg19 6p25.3-25.2(chr6: 255350-3189972)x3 copy number gain Pathogenic GRCh37 Chromosome 6, 255350: 3189972
6 HOXD13 NM_000523.3(HOXD13): c.820C> T (p.Arg274Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200750564 GRCh37 Chromosome 2, 176959246: 176959246
7 HOXD13 NM_000523.3(HOXD13): c.820C> T (p.Arg274Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200750564 GRCh38 Chromosome 2, 176094518: 176094518

Copy number variations for Brachydactyly, Type E1 from CNVD:

7
# CNVD ID Chromosom 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

GO Terms for Brachydactyly, Type E1

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.65 HOXD13 POSTN PTHLH
2 positive regulation of cell proliferation GO:0008284 9.55 AKT1 AREG PTGS2 PTHLH SPHK1
3 response to organic cyclic compound GO:0014070 9.54 AREG PTCH1 PTGS2
4 limb morphogenesis GO:0035108 9.46 HOXD13 PTCH1
5 renal system development GO:0072001 9.43 PTCH1 SOX17
6 positive regulation of smooth muscle contraction GO:0045987 9.4 PTGS2 SPHK1
7 prostate gland development GO:0030850 9.32 HOXD13 PTCH1
8 mammary gland epithelial cell differentiation GO:0060644 9.26 AKT1 PTCH1
9 regulation of cell proliferation GO:0042127 9.26 HOXD13 PTCH1 PTGS2 TCFL5
10 response to estradiol GO:0032355 8.92 AREG POSTN PTCH1 PTGS2

Sources for Brachydactyly, Type E1

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
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