MADAC
MCID: MCR364
MIFTS: 40

Macrodactyly (MADAC)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Macrodactyly

MalaCards integrated aliases for Macrodactyly:

Name: Macrodactyly 58 76
Congenital Macrodactylia 76 30 6
Macrodactyly, Somatic 58 6
Megalodactyly 58 76
Type I Macrodactyly 76
Madac 76

Characteristics:

OMIM:

58
Inheritance:
somatic mutation


Classifications:



External Ids:

OMIM 58 155500
MeSH 45 D017880
MedGen 43 C0265552
SNOMED-CT via HPO 70 48449000

Summaries for Macrodactyly

OMIM : 58 Macrodactyly is a congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth in affected digits with resultant loss of function. Macrodactyly affects a 'nerve territory,' and the individual peripheral nerve is both enlarged and elongated (summary by Rios et al., 2013). (155500)

MalaCards based summary : Macrodactyly, also known as congenital macrodactylia, is related to tuberous sclerosis and megalencephaly. An important gene associated with Macrodactyly is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and AMP-activated Protein Kinase (AMPK) Signaling. Affiliated tissues include bone, skin and heart, and related phenotypes are macrodactyly and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 76 Macrodactyly: A congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth affecting the digits or the entire hand or foot.

Wikipedia : 77 Local gigantism or localised gigantism is a condition in which a certain part of the body acquires... more...

Related Diseases for Macrodactyly

Diseases in the Macrodactyly family:

Macrodactyly of Toes

Diseases related to Macrodactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 29.9 PIK3CA TSC1
2 megalencephaly 29.4 PIK3CA TSC1
3 macrodactyly of the hand 12.5
4 macrodactyly of the foot 12.2
5 macrodactyly of fingers 12.1
6 macrodactyly of toes 12.1
7 macrodactyly of fingers, bilateral 12.1
8 macrodactyly of fingers, unilateral 12.1
9 macrodactyly of toes, bilateral 12.1
10 macrodactyly of toes, unilateral 12.1
11 epiphyseal chondrodysplasia, miura type 11.9
12 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.5
13 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
14 carpal tunnel syndrome 10.4
15 mononeuropathy of the median nerve, mild 10.4
16 proteus syndrome 10.3
17 chromosome 2q35 duplication syndrome 10.3
18 tuberous sclerosis 1 10.2
19 hemihyperplasia, isolated 10.2
20 lipomatosis 10.2
21 keloid formation 10.1
22 nevus, epidermal 10.1
23 keloids 10.1
24 neurilemmoma 10.1
25 plexiform schwannoma 10.1
26 colorectal cancer 9.9
27 hepatocellular carcinoma 9.9
28 neurofibromatosis, type iv, of riccardi 9.9
29 keratosis, seborrheic 9.9
30 renal hypodysplasia/aplasia 1 9.9
31 lung cancer 9.9
32 gastric cancer 9.9
33 multiple enchondromatosis, maffucci type 9.9
34 fibrous dysplasia 9.9
35 lymphangioma 9.9
36 giant cell tumor 9.9
37 neuroma 9.9
38 cystic lymphangioma 9.9
39 mammary paget's disease 9.9
40 breast adenocarcinoma 9.9
41 plexiform neurofibroma 9.9
42 neuropathy 9.9
43 neurofibroma 9.9
44 gigantism 9.9
45 localized hypertrophic neuropathy 9.9
46 ovarian epithelial cancer 9.9
47 trigeminal trophic syndrome 9.9
48 adult hepatocellular carcinoma 9.7 PIK3CA TSC1

Graphical network of the top 20 diseases related to Macrodactyly:



Diseases related to Macrodactyly

Symptoms & Phenotypes for Macrodactyly

Human phenotypes related to Macrodactyly:

33
# Description HPO Frequency HPO Source Accession
1 macrodactyly 33 HP:0004099

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
one or 2 extraordinarily enlarged fingers

Clinical features from OMIM:

155500

GenomeRNAi Phenotypes related to Macrodactyly according to GeneCards Suite gene sharing:

27 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.58 MAPT PIK3CA TSC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.58 TSC1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.58 MAPT
4 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.58 PIK3CA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.58 MAPT
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.58 PIK3CA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.58 PIK3CA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.58 PIK3CA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.58 PIK3CA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.58 PIK3CA TSC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.58 MAPT PIK3CA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.58 MAPT
13 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.58 MAPT
14 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.58 TSC1
15 Decreased cell migration GR00055-A-1 9.13 NPR2 PIK3CA TSC1

MGI Mouse Phenotypes related to Macrodactyly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 GRIN3A MAPT NPR2 PIK3CA PTN TSC1
2 muscle MP:0005369 9.46 MAPT NPR2 PIK3CA TSC1
3 nervous system MP:0003631 9.43 GRIN3A MAPT NPR2 PIK3CA PTN TSC1
4 vision/eye MP:0005391 8.92 GRIN3A MAPT PIK3CA TSC1

Drugs & Therapeutics for Macrodactyly

Search Clinical Trials , NIH Clinical Center for Macrodactyly

Genetic Tests for Macrodactyly

Genetic tests related to Macrodactyly:

# Genetic test Affiliating Genes
1 Congenital Macrodactylia 30 PIK3CA

Anatomical Context for Macrodactyly

MalaCards organs/tissues related to Macrodactyly:

42
Bone, Skin, Heart, Tongue, Breast

Publications for Macrodactyly

Articles related to Macrodactyly:

(show top 50) (show all 182)
# Title Authors Year
1
Recurrence of carpal tunnel syndrome in isolated non-syndromic macrodactyly: DTI examination of a giant median nerve. ( 30343441 )
2019
2
Keloid formation after syndactyly release in a patient with macrodactyly - methotrexate treatment. ( 29973103 )
2019
3
Lipomatosis of the brachial plexus with associated overgrowth and macrodactyly. ( 30230612 )
2019
4
Insights into the pathogenesis of macrodactyly. ( 30086673 )
2019
5
Macrodactyly: decision-making and surgery timing. ( 30208752 )
2019
6
Lipofibromatous Hamartoma of the Median Nerve in Association with or without Macrodactyly. ( 25371022 )
2018
7
Treatment of Hand Macrodactyly With Resection and Toe Transfers. ( 28927882 )
2018
8
An investigation of PIK3CA mutations in isolated macrodactyly. ( 29661094 )
2018
9
Macrodactyly with a complex glomuvenous malformation in congenital lipomatous overgrowth with vascular malformations, epidermal naevi and skeletal anomalies (CLOVES) syndrome. ( 29882992 )
2018
10
Morphological and neurophysiological impairment of the nerve in type II macrodactyly. ( 30001338 )
2018
11
Bilateral Macrodactyly of the Halluces in an Adolescent Girl Corrected with Shortening Osteotomies of the First Metatarsal and the Phalangeal Bones: A Case Report. ( 30045081 )
2018
12
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. ( 29446767 )
2018
13
[PIK3CA mutation analysis in isolated macrodactyly]. ( 30032537 )
2018
14
Long-term results of single-stage reduction surgery for the treatment of macrodactyly. ( 27519716 )
2017
15
Thumb and index finger macrodactyly with first carpometacarpal and scaphotrapezotrapezoidal joints fusion: inevitable consequence? ( 28062434 )
2017
16
Measurements in plain radiographs of 26 fingers with macrodactyly. ( 28132597 )
2017
17
Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas. ( 28578527 )
2017
18
Altered Adipose-Derived Stem Cell Characteristics in Macrodactyly. ( 28894288 )
2017
19
First digit macrodactyly and carpal tunnel syndrome caused by giant median nerve with macrodystrophia lipomatosa. ( 27491327 )
2016
20
Two cases of macrodactyly of the foot: relevance in pediatric orthopedics. ( 26569430 )
2016
21
Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly. ( 26851524 )
2016
22
Macrodactyly in tuberous sclerosis complex: Case report and review of the literature. ( 27112935 )
2016
23
Ray Resection for Progressive Macrodactyly of the Hand: Surgical Technique and Illustrative Cases. ( 27344071 )
2016
24
Short Stature and Macrodactyly in a 13-Year-Old Female. ( 27566682 )
2016
25
GRIN3A and MAPT stimulate nerve overgrowth in macrodactyly. ( 27840953 )
2016
26
The first radiographic image of a peripheral nerve disorder? Lipomatous macrodactyly (unrecognized lipomatosis of nerve). ( 25862172 )
2015
27
A relapsing macrodactyly. ( 24687379 )
2015
28
Surgical Treatment of Macrodactyly. ( 26050204 )
2015
29
Island nail flap in the treatment of foot macrodactyly of the first ray in children: report of two cases. ( 26238609 )
2015
30
Macrodactyly as a Presenting Sign of Maffucci Syndrome. ( 26364983 )
2015
31
Ray amputation for the treatment of foot macrodactyly in children. ( 26430011 )
2015
32
Segmental Hemihyperplasia-Related Macrodactyly with Congenital Renal Agenesis: A Hand Surgeon's Point of View. ( 26430647 )
2015
33
Pacinian Neuroma Presenting as Congenital Macrodactyly: A Rare Case Report. ( 26500954 )
2015
34
Reactivation of multipotency by oncogenic PIK3CA induces breast tumour heterogeneity. ( 26266985 )
2015
35
PIK3CA(H1047R) induces multipotency and multi-lineage mammary tumours. ( 26266975 )
2015
36
Giant clinodactyly and macrodactyly of the hand associated with carpal tunnel syndrome. ( 25399959 )
2014
37
The use of the Tsuge procedure for pedal macrodactyly: relevance in pediatric orthopedics. ( 24598536 )
2014
38
Long-finger pollicization for macrodactyly of the thumb and index finger. ( 24919138 )
2014
39
Isolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome. ( 24958419 )
2014
40
Operative resection is a viable treatment of macrodactyly of the foot caused by lipofibromatous hamartoma: a case study with 5 year follow-up. ( 25103717 )
2014
41
Macrodactyly and poliosis in tuberous sclerosis complex. ( 25320338 )
2014
42
Macrodactyly - options and outcomes. ( 22736742 )
2013
43
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. ( 23100325 )
2013
44
Commentary on Hardwicke et al. Macrodactyly - options and outcomes. ( 23440048 )
2013
45
Macrodactyly in the setting of a plexiform schwannoma in neurofibromatosis type 2: case report. ( 23453897 )
2013
46
Presentation and treatment of macrodactyly in children. ( 24060511 )
2013
47
Massive heterotopic ossification around the ankle in a patient with macrodactyly of the foot: a case report. ( 22687528 )
2012
48
Isolated macrodactyly of the foot: diagnosis and treatment. ( 22828522 )
2012
49
Expression analysis of macrodactyly identifies pleiotrophin upregulation. ( 22848377 )
2012
50
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. ( 22658544 )
2012

Variations for Macrodactyly

ClinVar genetic disease variations for Macrodactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.4(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
2 PIK3CA NM_006218.4(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
3 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
4 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh38 Chromosome 3, 179234296: 179234296
5 PIK3CA NM_006218.3(PIK3CA): c.1130C> G (p.Pro377Arg) single nucleotide variant Uncertain significance rs113613074 GRCh37 Chromosome 3, 178922361: 178922361
6 PIK3CA NM_006218.3(PIK3CA): c.1130C> G (p.Pro377Arg) single nucleotide variant Uncertain significance rs113613074 GRCh38 Chromosome 3, 179204573: 179204573
7 PIK3CA NM_006218.3(PIK3CA): c.436G> A (p.Val146Ile) single nucleotide variant Uncertain significance rs755969956 GRCh38 Chromosome 3, 179199773: 179199773
8 PIK3CA NM_006218.3(PIK3CA): c.436G> A (p.Val146Ile) single nucleotide variant Uncertain significance rs755969956 GRCh37 Chromosome 3, 178917561: 178917561
9 PIK3CA PIK3CA, ARG115PRO single nucleotide variant Pathogenic

Expression for Macrodactyly

Search GEO for disease gene expression data for Macrodactyly.

Pathways for Macrodactyly

Pathways related to Macrodactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 MAPT NPR2 PTN TSC1
2
Show member pathways
11.55 MAPT PIK3CA TSC1
3
Show member pathways
11.53 MAPT PIK3CA
4 11.48 PIK3CA TSC1
5 11.29 PIK3CA TSC1
6 10.99 MAPT PIK3CA
7 10.09 MAPT PIK3CA

GO Terms for Macrodactyly

Cellular components related to Macrodactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth cone GO:0030426 8.62 MAPT TSC1

Biological processes related to Macrodactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.16 PIK3CA PTN
2 synapse organization GO:0050808 8.96 MAPT TSC1
3 negative regulation of macroautophagy GO:0016242 8.62 PIK3CA TSC1

Molecular functions related to Macrodactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.16 MAPT TSC1
2 Hsp90 protein binding GO:0051879 8.96 MAPT TSC1
3 protein phosphatase 2A binding GO:0051721 8.62 GRIN3A MAPT

Sources for Macrodactyly

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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