MCID: MMM002
MIFTS: 17

Mammary-Digital-Nail Syndrome

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

Aliases & Classifications for Mammary-Digital-Nail Syndrome

MalaCards integrated aliases for Mammary-Digital-Nail Syndrome:

Name: Mammary-Digital-Nail Syndrome 57 59 13 73
Onycho-Digito-Mammary Syndrome 59
Mdn Syndrome 59
Mdns 57

Characteristics:

Orphanet epidemiological data:

59
mammary-digital-nail syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
mammary-digital-nail syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613689
Orphanet 59 ORPHA238744
ICD10 via Orphanet 34 Q87.2
MedGen 42 C3150946
UMLS 73 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 bone, and related phenotypes are anonychia and nail dysplasia

Description 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

Symptoms via clinical synopsis from OMIM:

57
Chest Breasts:
breast hypertrophy, in females

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

Skin Nails Hair Nails:
onychodystrophy
anonychia

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


Clinical features from OMIM:

613689

Human phenotypes related to Mammary-Digital-Nail Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 anonychia 32 HP:0001798
2 nail dysplasia 32 HP:0002164
3 nail dystrophy 32 HP:0008404
4 breast hypertrophy 32 HP:0010313

Drugs & Therapeutics for Mammary-Digital-Nail Syndrome

Search Clinical Trials , 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:

41
Bone

Publications for Mammary-Digital-Nail Syndrome

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 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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