MDNS
MCID: MMM002
MIFTS: 23

Mammary-Digital-Nail Syndrome (MDNS)

Categories: Bone diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Mammary-Digital-Nail Syndrome

MalaCards integrated aliases for Mammary-Digital-Nail Syndrome:

Name: Mammary-Digital-Nail Syndrome 57 58 13 70
Onycho-Digito-Mammary Syndrome 58
Mdn Syndrome 58
Mdns 57

Characteristics:

Orphanet epidemiological data:

58
mammary-digital-nail syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
mammary-digital-nail syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 613689
ICD10 via Orphanet 33 Q87.2
Orphanet 58 ORPHA238744
MedGen 41 C3150946
UMLS 70 C3150946

Summaries for Mammary-Digital-Nail Syndrome

MalaCards based summary : Mammary-Digital-Nail Syndrome, also known as onycho-digito-mammary syndrome, is related to anonychia-onychodystrophy with hypoplasia or absence of distal phalanges and hypertrophy of the breast, juvenile. An important gene associated with Mammary-Digital-Nail Syndrome is MDNS (Mammary-Digital-Nail Syndrome). Affiliated tissues include breast, spinal cord and kidney, and related phenotypes are nail dysplasia and nail dystrophy

More information from OMIM: 613689

Related Diseases for Mammary-Digital-Nail Syndrome

Diseases related to Mammary-Digital-Nail Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 11.3
2 hypertrophy of the breast, juvenile 11.3

Symptoms & Phenotypes for Mammary-Digital-Nail Syndrome

Human phenotypes related to Mammary-Digital-Nail Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 nail dysplasia 31 HP:0002164
2 nail dystrophy 31 HP:0008404
3 anonychia 31 HP:0001798
4 breast hypertrophy 31 HP:0010313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Nails:
anonychia
onychodystrophy

Skeletal Hands:
thumbs, digitalized
hypoplasia of distal phalanges of second to fourth digits
absence of distal phalanx of fifth digit

Skin Nails Hair Skin:
absence of all distal creases of second to fifth digits

Chest Breasts:
breast hypertrophy, in females

Skeletal Feet:
hypoplasia or absence of distal phalanges of great toes

Clinical features from OMIM®:

613689 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mammary-Digital-Nail Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Juvenile Justice Girls: Pathways to Adjustment and System Use in Young Adulthood Completed NCT01341626 Phase 1
2 Microwave Radiation for Early Diagnostics of Pneumonia in Patients With COVID-19 Completed NCT04568525

Search NIH Clinical Center for Mammary-Digital-Nail Syndrome

Genetic Tests for Mammary-Digital-Nail Syndrome

Anatomical Context for Mammary-Digital-Nail Syndrome

MalaCards organs/tissues related to Mammary-Digital-Nail Syndrome:

40
Breast, Spinal Cord, Kidney, Thalamus

Publications for Mammary-Digital-Nail Syndrome

Articles related to Mammary-Digital-Nail Syndrome:

(show all 42)
# Title Authors PMID Year
1
Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1. 57 61
20145678 2010
2
Familial juvenile hypertrophy of the breast. 57
15261644 2004
3
Probabilistic dose prediction using mixture density networks for automated radiation therapy treatment planning. 61
33470973 2021
4
Distributed control of motor circuits for backward walking in Drosophila. 61
33268800 2020
5
A pair of ascending neurons in the subesophageal zone mediates aversive sensory inputs-evoked backward locomotion in Drosophila larvae. 61
33137117 2020
6
Videocapillaroscopy of the Oral Mucosa in Patients with Diabetic Foot: Possible Diagnostic Role of Microangiopathic Damage? 61
33198337 2020
7
Cycle Training improves vascular function and neuropathic symptoms in patients with type 2 diabetes and peripheral neuropathy: A randomized controlled trial. 61
31899340 2020
8
The use of mixture density networks in the emulation of complex epidemiological individual-based models. 61
32176687 2020
9
TwoLumps Ascending Neurons Mediate Touch-Evoked Reversal of Walking Direction in Drosophila. 61
31813606 2019
10
Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene. 61
31843010 2019
11
Absorption, distribution, metabolism and excretion of the biomaterials used in Nanocarrier drug delivery systems. 61
31255595 2019
12
Imaging neural activity in the ventral nerve cord of behaving adult Drosophila. 61
30348941 2018
13
MDN brain descending neurons coordinately activate backward and inhibit forward locomotion. 61
30070205 2018
14
Effects of alprostadil combined with calcium dobesilate in patients with diabetic peripheral neuropathy. 61
30183208 2018
15
Aquatic food-web dynamics following incorporation of nutrients derived from Atlantic anadromous fishes. 61
29235101 2018
16
Severity of Neuropathy Is Associated With Long-term Spinal Cord Stimulation Outcome in Painful Diabetic Peripheral Neuropathy: Five-Year Follow-up of a Prospective Two-Center Clinical Trial. 61
29109298 2018
17
Association between a MIR499A polymorphism and diabetic neuropathy in type 2 diabetes. 61
29108839 2018
18
Chinese herbal medicine TangBi Formula treatment of patients with type 2 diabetic distal symmetric polyneuropathy disease: study protocol for a randomized controlled trial. 61
29284520 2017
19
Correlates of multi-drug non-susceptibility in enteric bacteria isolated from Kenyan children with acute diarrhea. 61
28968393 2017
20
Moonwalker Descending Neurons Mediate Visually Evoked Retreat in Drosophila. 61
28238656 2017
21
Designing Multicomponent Nanosystems for Rapid Detection of Circulating Tumor Cells. 61
28150208 2017
22
Person-centred care in chronic kidney disease: a cross-sectional study of patients' desires for self-management support. 61
28086812 2017
23
Medio-dorsal thalamus and confabulations: Evidence from a clinical case and combined MRI/DTI study. 61
27812504 2016
24
Significance of functional GRP78 polymorphisms in predicting the onset of type 2 diabetic peripheral neuropathy in Chinese population. 61
26005757 2015
25
Fully probabilistic control for stochastic nonlinear control systems with input dependent noise. 61
25562567 2015
26
A laboratory-based evaluation of exercise plus contingency management for reducing cigarette smoking. 61
25263261 2014
27
Effect of aerobic exercise on peripheral nerve functions of population with diabetic peripheral neuropathy in type 2 diabetes: a single blind, parallel group randomized controlled trial. 61
24507164 2014
28
Transferrin-mediated rapid targeting, isolation, and detection of circulating tumor cells by multifunctional magneto-dendritic nanosystem. 61
23184885 2013
29
Clinical correlates of painful diabetic neuropathy and relationship of neuropathic pain with sensorimotor and autonomic nerve function. 61
20619708 2011
30
The Utah Early Neuropathy Scale: a sensitive clinical scale for early sensory predominant neuropathy. 61
18844788 2008
31
Midbrain dopamine neuron differentiation: factors and fates. 61
17331494 2007
32
Isolated use of vibration perception thresholds and semmes-weinstein monofilament in diagnosing diabetic polyneuropathy: "the North Catalonia diabetes study". 61
17270590 2007
33
Experimental therapy of epilepsy with transcranial magnetic stimulation: lack of additional benefit with prolonged treatment. 61
15122428 2004
34
Caveolin and thrombospondin expression during hepatocellular carcinogenesis. 61
15104298 2004
35
Making connections: the development of mesencephalic dopaminergic neurons. 61
14741747 2003
36
Identification of individual neurons reflecting short- and long-term visual memory in an arthropodo. 61
13679423 2003
37
GAPDH knockdown rescues mesencephalic dopaminergic neurons from MPP+ -induced apoptosis. 61
11435944 2001
38
A simplified diagnostic test for ambulatory screening of peripheral diabetic neuropathy. 61
9649948 1998
39
A practical two-step quantitative clinical and electrophysiological assessment for the diagnosis and staging of diabetic neuropathy. 61
7821168 1994
40
Angiotensin converting enzyme inhibition and calcium channel blockade in incipient diabetic nephropathy. The Melbourne Diabetic Nephropathy Study Group. 61
1513112 1992
41
Respiratory impedance and multibreath N2 washout in healthy, asthmatic, and cystic fibrosis subjects. 61
2361915 1990
42
Distribution and response characteristics of masseteric nerve-driven neurons in two separate cortical projection areas of cats. 61
4041810 1985

Variations for Mammary-Digital-Nail Syndrome

Expression for Mammary-Digital-Nail Syndrome

Search GEO for disease gene expression data for Mammary-Digital-Nail Syndrome.

Pathways for Mammary-Digital-Nail Syndrome

GO Terms for Mammary-Digital-Nail Syndrome

Sources for Mammary-Digital-Nail Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....