MCID: MCR364
MIFTS: 38

Macrodactyly

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Macrodactyly

MalaCards integrated aliases for Macrodactyly:

Name: Macrodactyly 57 29
Macrodactyly, Somatic 57 6
Megalodactyly 57

Characteristics:

OMIM:

57
Inheritance:
no report of familial occurrence


Classifications:



External Ids:

OMIM 57 155500
MedGen 42 C0265552
SNOMED-CT via HPO 69 48449000

Summaries for Macrodactyly

OMIM : 57 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 macrodactyly, somatic, 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 and skin, and related phenotypes are macrodactyly and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 76 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 38)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 30.3 TSC1 PIK3CA
2 megalencephaly 29.7 TSC1 PIK3CA
3 macrodactyly of the hand 12.5
4 macrodactyly of the foot 12.1
5 macrodactyly of fingers 12.1
6 macrodactyly of toes 12.1
7 macrodactyly of fingers, bilateral 12.0
8 macrodactyly of fingers, unilateral 12.0
9 macrodactyly of toes, bilateral 12.0
10 macrodactyly of toes, unilateral 12.0
11 epiphyseal chondrodysplasia, miura type 11.9
12 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.4
13 carpal tunnel syndrome 10.4
14 mononeuropathy of the median nerve, mild 10.4
15 proteus syndrome 10.3
16 tuberous sclerosis 1 10.1
17 lipomatosis 10.1
18 keloid formation 10.1
19 nevus, epidermal 10.1
20 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
21 plexiform schwannoma 10.1
22 adult hepatocellular carcinoma 9.9 TSC1 PIK3CA
23 neurofibromatosis, type iv, of riccardi 9.9
24 renal hypodysplasia/aplasia 1 9.9
25 multiple enchondromatosis, maffucci type 9.9
26 fibrous dysplasia 9.9
27 lymphangioma 9.9
28 giant cell tumor 9.9
29 neuroma 9.9
30 cystic lymphangioma 9.9
31 neurilemmoma 9.9
32 plexiform neurofibroma 9.9
33 neuropathy 9.9
34 neurofibroma 9.9
35 gigantism 9.9
36 localized hypertrophic neuropathy 9.9
37 trigeminal trophic syndrome 9.9
38 cowden disease 9.9 TSC1 PIK3CA

Graphical network of the top 20 diseases related to Macrodactyly:



Diseases related to Macrodactyly

Symptoms & Phenotypes for Macrodactyly

Symptoms via clinical synopsis from OMIM:

57
Limbs:
one or 2 grotesquely enlarged fingers


Clinical features from OMIM:

155500

Human phenotypes related to Macrodactyly:

32
# Description HPO Frequency HPO Source Accession
1 macrodactyly 32 HP:0004099

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.36 MAPT PIK3CA TSC1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.36 TSC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.36 TSC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.36 TSC1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.36 PIK3CA
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.36 TSC1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.36 PIK3CA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.36 PIK3CA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.36 MAPT
10 Decreased cell migration GR00055-A-1 9.13 NPR2 PIK3CA TSC1

MGI Mouse Phenotypes related to Macrodactyly:

46
# 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 Macrodactyly 29

Anatomical Context for Macrodactyly

MalaCards organs/tissues related to Macrodactyly:

41
Bone, Skin

Publications for Macrodactyly

Articles related to Macrodactyly:

(show top 50) (show all 172)
# Title Authors Year
1
Keloid formation after syndactyly release in a patient with macrodactyly - methotrexate treatment. ( 29973103 )
2018
2
Recurrence of carpal tunnel syndrome in isolated non-syndromic macrodactyly: DTI examination of a giant median nerve. ( 30343441 )
2018
3
Lipomatosis of the brachial plexus with associated overgrowth and macrodactyly. ( 30230612 )
2018
4
Lipofibromatous Hamartoma of the Median Nerve in Association with or without Macrodactyly. ( 25371022 )
2018
5
Treatment of Hand Macrodactyly With Resection and Toe Transfers. ( 28927882 )
2018
6
An investigation of PIK3CA mutations in isolated macrodactyly. ( 29661094 )
2018
7
Macrodactyly with a complex glomuvenous malformation in congenital lipomatous overgrowth with vascular malformations, epidermal naevi and skeletal anomalies (CLOVES) syndrome. ( 29882992 )
2018
8
Morphological and neurophysiological impairment of the nerve in type II macrodactyly. ( 30001338 )
2018
9
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
10
Insights into the pathogenesis of macrodactyly. ( 30086673 )
2018
11
Macrodactyly: decision-making and surgery timing. ( 30208752 )
2018
12
Long-term results of single-stage reduction surgery for the treatment of macrodactyly. ( 27519716 )
2017
13
Thumb and index finger macrodactyly with first carpometacarpal and scaphotrapezotrapezoidal joints fusion: inevitable consequence? ( 28062434 )
2017
14
Measurements in plain radiographs of 26 fingers with macrodactyly. ( 28132597 )
2017
15
Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas. ( 28578527 )
2017
16
Altered Adipose-Derived Stem Cell Characteristics in Macrodactyly. ( 28894288 )
2017
17
GRIN3A and MAPT stimulate nerve overgrowth in macrodactyly. ( 27840953 )
2016
18
Macrodactyly in tuberous sclerosis complex: Case report and review of the literature. ( 27112935 )
2016
19
Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly. ( 26851524 )
2016
20
Ray Resection for Progressive Macrodactyly of the Hand: Surgical Technique and Illustrative Cases. ( 27344071 )
2016
21
First digit macrodactyly and carpal tunnel syndrome caused by giant median nerve with macrodystrophia lipomatosa. ( 27491327 )
2016
22
Short Stature and Macrodactyly in a 13-Year-Old Female. ( 27566682 )
2016
23
Two cases of macrodactyly of the foot: relevance in pediatric orthopedics. ( 26569430 )
2015
24
The first radiographic image of a peripheral nerve disorder? Lipomatous macrodactyly (unrecognized lipomatosis of nerve). ( 25862172 )
2015
25
Macrodactyly as a Presenting Sign of Maffucci Syndrome. ( 26364983 )
2015
26
Pacinian Neuroma Presenting as Congenital Macrodactyly: A Rare Case Report. ( 26500954 )
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
Ray amputation for the treatment of foot macrodactyly in children. ( 26430011 )
2015
31
Segmental Hemihyperplasia-Related Macrodactyly with Congenital Renal Agenesis: A Hand Surgeon's Point of View. ( 26430647 )
2015
32
Isolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome. ( 24958419 )
2014
33
Giant clinodactyly and macrodactyly of the hand associated with carpal tunnel syndrome. ( 25399959 )
2014
34
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
35
Macrodactyly and poliosis in tuberous sclerosis complex. ( 25320338 )
2014
36
The use of the Tsuge procedure for pedal macrodactyly: relevance in pediatric orthopedics. ( 24598536 )
2014
37
Long-finger pollicization for macrodactyly of the thumb and index finger. ( 24919138 )
2014
38
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. ( 23100325 )
2013
39
Macrodactyly - options and outcomes. ( 22736742 )
2013
40
Commentary on Hardwicke et al. Macrodactyly - options and outcomes. ( 23440048 )
2013
41
Macrodactyly in the setting of a plexiform schwannoma in neurofibromatosis type 2: case report. ( 23453897 )
2013
42
Presentation and treatment of macrodactyly in children. ( 24060511 )
2013
43
Massive heterotopic ossification around the ankle in a patient with macrodactyly of the foot: a case report. ( 22687528 )
2012
44
Expression analysis of macrodactyly identifies pleiotrophin upregulation. ( 22848377 )
2012
45
Isolated macrodactyly of the foot: diagnosis and treatment. ( 22828522 )
2012
46
Keloid formation after syndactyly release in patients with associated macrodactyly: management with methotrexate therapy. ( 21447529 )
2011
47
Macrodactyly and fibrous hamartoma in a child with tuberous sclerosis complex. ( 20647580 )
2011
48
Macrodactyly with skin hypertrophy: a minimal form of the Proteus syndrome. ( 21738976 )
2011
49
Ray reduction of the foot in the treatment of macrodactyly and review of the literature. ( 21601486 )
2011
50
Case of fibrolipomatous hamartoma of the digital nerve without macrodactyly. ( 22197873 )
2011

Variations for Macrodactyly

ClinVar genetic disease variations for Macrodactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
2 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
3 PIK3CA PIK3CA, ARG115PRO undetermined 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 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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