MCID: MCR036
MIFTS: 12

Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

MalaCards integrated aliases for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance:

Name: Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 57 53
Macroepiphyseal Dysplasia, Mcalister Coe Type 53 72
Mcalister Coe Whyte Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 248010
MedGen 42 C2931597
UMLS 72 C2931597

Summaries for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

MalaCards based summary : Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance, is also known as macroepiphyseal dysplasia, mcalister coe type. Affiliated tissues include skin, and related phenotypes are coarse hair and short stature

More information from OMIM: 248010

Related Diseases for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Symptoms & Phenotypes for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Human phenotypes related to Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 coarse hair 32 HP:0002208
2 short stature 32 HP:0004322
3 osteoporosis 32 HP:0000939
4 decreased muscle mass 32 HP:0003199
5 epiphyseal dysplasia 32 HP:0002656
6 joint laxity 32 HP:0001388
7 prematurely aged appearance 32 HP:0007495
8 recurrent fractures 32 HP:0002757
9 enlarged joints 32 HP:0003037
10 reduced subcutaneous adipose tissue 32 HP:0003758
11 complex palmar dermatoglyphic pattern 32 HP:0007602

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skin Nails Hair Hair:
decreased muscle mass
dry coarse hair muscle, soft tissue decreased subcutaneous fat

Head And Neck Face:
aged appearance

Skeletal:
osteoporosis
epiphyseal dysplasia
recurrent fractures
prominent joints
macroepiphyses
more
Skin Nails Hair Skin:
complex palmar dermatoglyphic pattern
wrinkled palms

Clinical features from OMIM:

248010

Drugs & Therapeutics for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Search Clinical Trials , NIH Clinical Center for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance

Genetic Tests for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Anatomical Context for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

MalaCards organs/tissues related to Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance:

41
Skin

Publications for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Articles related to Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance:

# Title Authors PMID Year
1
Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: a presumed autosomal recessive condition. 8
3941923 1986

Variations for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Expression for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Search GEO for disease gene expression data for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance.

Pathways for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

GO Terms for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Sources for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....