AMD
MCID: ADR023
MIFTS: 31

Adrenomyodystrophy (AMD)

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Adrenomyodystrophy

MalaCards integrated aliases for Adrenomyodystrophy:

Name: Adrenomyodystrophy 56 74 52 58 71
Mandibuloacral Dysostosis 71
Mandibuloacral Dysplasia 52
Amd 52
Mad 52

Characteristics:

Orphanet epidemiological data:

58
adrenomyodystrophy
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
x-linked


HPO:

31
adrenomyodystrophy:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Adrenomyodystrophy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 977 Definition An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. Visit the Orphanet disease page for more resources.

MalaCards based summary : Adrenomyodystrophy, also known as mandibuloacral dysostosis, is related to mandibuloacral dysplasia with type a lipodystrophy and mandibuloacral dysplasia with type b lipodystrophy, and has symptoms including joint stiffness Affiliated tissues include skeletal muscle, pituitary and bone, and related phenotypes are muscular hypotonia and failure to thrive

Wikipedia : 74 Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown... more...

More information from OMIM: 300270

Related Diseases for Adrenomyodystrophy

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

(show top 50) (show all 253)
# Related Disease Score Top Affiliating Genes
1 mandibuloacral dysplasia with type a lipodystrophy 13.1
2 mandibuloacral dysplasia with type b lipodystrophy 12.9
3 macular degeneration, age-related, 1 12.6
4 hutchinson-gilford progeria syndrome 11.7
5 glycogen storage disease ii 11.5
6 cleidocranial dysplasia 11.4
7 stargardt disease 1 11.3
8 langerhans cell histiocytosis 11.2
9 kuhnt-junius degeneration 10.8
10 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.8
11 yemenite deaf-blind hypopigmentation syndrome 10.8
12 acroosteolysis 10.7
13 autosomal recessive disease 10.6
14 microvascular complications of diabetes 5 10.5
15 progeroid syndrome 10.5
16 eye disease 10.4
17 retinal degeneration 10.4
18 alopecia 10.4
19 retinal disease 10.4
20 macular retinal edema 10.3
21 cataract 10.3
22 restrictive dermopathy, lethal 10.3
23 familial partial lipodystrophy 10.3
24 premature aging 10.3
25 laminopathy 10.3
26 scotoma 10.3
27 werner syndrome 10.2
28 bone resorption disease 10.2
29 microcephaly 10.2
30 hyperinsulinism 10.2
31 skin atrophy 10.2
32 systemic scleroderma 10.2
33 exophthalmos 10.2
34 endophthalmitis 10.2
35 kidney disease 10.2
36 periodontal ehlers-danlos syndrome 10.2
37 megalocornea 10.2
38 constipation 10.2
39 myopathy 10.2
40 hypotonia 10.2
41 primary adrenal insufficiency 10.2
42 retinal detachment 10.2
43 diabetic macular edema 10.2
44 alzheimer disease 10.1
45 chronic kidney disease 10.1
46 dowling-degos disease 1 10.1
47 uveitis 10.1
48 optic nerve disease 10.1
49 acanthosis nigricans 10.1
50 nondisjunction 10.1

Graphical network of the top 20 diseases related to Adrenomyodystrophy:



Diseases related to Adrenomyodystrophy

Symptoms & Phenotypes for Adrenomyodystrophy

Human phenotypes related to Adrenomyodystrophy:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
4 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
5 megalocornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000485
6 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
7 primary adrenal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008207
8 abnormal intestine morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002242
9 megacystis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000021
10 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004349
13 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
14 generalized hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007440
15 seizure 31 frequent (33%) HP:0001250
16 global developmental delay 31 HP:0001263
17 seizures 58 Frequent (79-30%)
18 constipation 31 HP:0002019
19 abnormality of the urinary system 58 Very frequent (99-80%)
20 abnormality of the genitourinary system 31 HP:0000119
21 pituitary corticotropic cell adenoma 31 HP:0008291
22 chronic constipation 31 HP:0012450

Symptoms via clinical synopsis from OMIM:

56
Eyes:
megalocornea

G I:
chronic constipation
fatty liver degeneration

Muscle:
dystrophic myopathy

Lab:
acth-producing pituitary microadenomas

Endocrine:
primary adrenal insufficiency

Neuro:
severe psychomotor retardation

G U:
terminal massive bladder ectasia

Clinical features from OMIM:

300270

UMLS symptoms related to Adrenomyodystrophy:


joint stiffness

Drugs & Therapeutics for Adrenomyodystrophy

Search Clinical Trials , NIH Clinical Center for Adrenomyodystrophy

Genetic Tests for Adrenomyodystrophy

Anatomical Context for Adrenomyodystrophy

MalaCards organs/tissues related to Adrenomyodystrophy:

40
Skeletal Muscle, Pituitary, Bone, Liver, Breast, Adipocyte, Skin

Publications for Adrenomyodystrophy

Articles related to Adrenomyodystrophy:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy. 61 56
7153060 1982
2
A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant. 61
31857427 2020
3
Lamin A involvement in ageing processes. 61
32446955 2020
4
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines. 61
31856865 2019
5
Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile. 61
30919593 2019
6
Proteomic Evidence of Biological Aging in a Child with a Compound Heterozygous ZMPSTE24 Mutation. 61
30548811 2019
7
Tissue-Specific Influence of Lamin A Mutations on Notch Signaling and Osteogenic Phenotype of Primary Human Mesenchymal Cells. 61
30901896 2019
8
The Cutting Edge: The Role of mTOR Signaling in Laminopathies. 61
30781376 2019
9
ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability. 61
29794150 2018
10
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. 61
29267953 2018
11
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing. 61
29208544 2018
12
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide. 61
28050601 2017
13
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation. 61
27334370 2016
14
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B. 61
27410998 2016
15
Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells. 61
27409638 2016
16
Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development. 61
27100822 2016
17
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A. 61
26602028 2016
18
Mandibuloacral dysplasia type B in an infant: a rare progeroid genodermatosis. 61
25629449 2015
19
Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins. 61
25823658 2015
20
Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China. 61
25286833 2014
21
Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics. 61
25324471 2014
22
Precautions in using a perforator free flap to treat mandibuloacral dysplasia--a case report. 61
24123119 2014
23
Mandibuloacral dysplasia. 61
24793088 2014
24
Hutchinson-gilford progeria versus mandibuloacral dysplasia. 61
24700965 2014
25
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 61
25469153 2014
26
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. 61
24639906 2014
27
Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers. 61
23775434 2013
28
Transcatheter aortic valve implantation in a very young patient. 61
24120468 2013
29
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C. 61
23804595 2013
30
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. 61
23622360 2013
31
An inherited LMNA gene mutation in atypical Progeria syndrome. 61
22991222 2012
32
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. 61
22549407 2012
33
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. 61
22935701 2012
34
Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment. 61
22706480 2012
35
Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity. 61
22718200 2012
36
The empowerment of translational research: lessons from laminopathies. 61
22691392 2012
37
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. 61
22570643 2011
38
Cell autonomous and systemic factors in progeria development. 61
22103512 2011
39
Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations. 61
21932319 2011
40
Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. 61
21865368 2011
41
Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts. 61
21419220 2011
42
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. 61
21267004 2011
43
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. 61
20814950 2010
44
Elbow deformities in a patient with mandibuloacral dysplasia type A. 61
20949529 2010
45
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. 61
20631028 2010
46
Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24. 61
20550970 2010
47
Lamin A precursor induces barrier-to-autointegration factor nuclear localization. 61
20581439 2010
48
Diseases of the nuclear envelope. 61
20182615 2010
49
Atypical progeroid syndrome due to heterozygous missense LMNA mutations. 61
19875478 2009
50
Mandibuloacral dysplasia type A in childhood. 61
19764019 2009

Variations for Adrenomyodystrophy

Expression for Adrenomyodystrophy

Search GEO for disease gene expression data for Adrenomyodystrophy.

Pathways for Adrenomyodystrophy

GO Terms for Adrenomyodystrophy

Sources for Adrenomyodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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