MCID: AXL004
MIFTS: 24

Axial Mesodermal Dysplasia Spectrum

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Axial Mesodermal Dysplasia Spectrum

MalaCards integrated aliases for Axial Mesodermal Dysplasia Spectrum:

Name: Axial Mesodermal Dysplasia Spectrum 52 58 71
Russell Weaver Bull Syndrome 52
Russell-Weaver-Bull Syndrome 58
Blastogenesis Defect 58

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Axial Mesodermal Dysplasia Spectrum

MalaCards based summary : Axial Mesodermal Dysplasia Spectrum, also known as russell weaver bull syndrome, is related to clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly and clubfoot. Affiliated tissues include bone, spleen and kidney, and related phenotypes are gingival overgrowth and hypertelorism

Related Diseases for Axial Mesodermal Dysplasia Spectrum

Graphical network of the top 20 diseases related to Axial Mesodermal Dysplasia Spectrum:



Diseases related to Axial Mesodermal Dysplasia Spectrum

Symptoms & Phenotypes for Axial Mesodermal Dysplasia Spectrum

Human phenotypes related to Axial Mesodermal Dysplasia Spectrum:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
5 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
6 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
9 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
10 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
11 renal hypoplasia/aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008678
12 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
13 anal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002023
14 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
15 preauricular skin tag 58 31 hallmark (90%) Very frequent (99-80%) HP:0000384
16 abnormality of pelvic girdle bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002644
17 vertebral segmentation defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0003422
18 congenital diaphragmatic hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000776
19 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
20 abnormality of the ureter 58 31 hallmark (90%) Very frequent (99-80%) HP:0000069
21 abnormality of the spleen 58 31 hallmark (90%) Very frequent (99-80%) HP:0001743
22 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
23 abnormality of the liver 58 31 hallmark (90%) Very frequent (99-80%) HP:0001392
24 omphalocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0001539
25 missing ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000921
26 oligohydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001562
27 renal cyst 58 31 hallmark (90%) Very frequent (99-80%) HP:0000107
28 abnormal intestine morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002242
29 abnormality of the knee 58 31 hallmark (90%) Very frequent (99-80%) HP:0002815
30 limbal dermoid 31 hallmark (90%) HP:0001140
31 abnormal morphology of female internal genitalia 31 hallmark (90%) HP:0000008
32 tracheoesophageal fistula 58 31 frequent (33%) Frequent (79-30%) HP:0002575
33 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
34 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
35 abnormal localization of kidney 58 31 frequent (33%) Frequent (79-30%) HP:0100542
36 morphological abnormality of the gastrointestinal tract 58 Very frequent (99-80%)
37 abnormality of the skeletal system 58 Very frequent (99-80%)
38 abnormality of female internal genitalia 58 Very frequent (99-80%)
39 abnormality of the ribs 58 Very frequent (99-80%)
40 anorectal anomaly 58 Very frequent (99-80%)
41 abnormality of the genital system 58 Very frequent (99-80%)
42 abnormality of the urinary system 58 Very frequent (99-80%)
43 abnormality of the nervous system 58 Frequent (79-30%)
44 epibulbar dermoid 58 Very frequent (99-80%)

Drugs & Therapeutics for Axial Mesodermal Dysplasia Spectrum

Search Clinical Trials , NIH Clinical Center for Axial Mesodermal Dysplasia Spectrum

Genetic Tests for Axial Mesodermal Dysplasia Spectrum

Anatomical Context for Axial Mesodermal Dysplasia Spectrum

MalaCards organs/tissues related to Axial Mesodermal Dysplasia Spectrum:

40
Bone, Spleen, Kidney, Liver, Lung, Skin

Publications for Axial Mesodermal Dysplasia Spectrum

Articles related to Axial Mesodermal Dysplasia Spectrum:

(show all 12)
# Title Authors PMID Year
1
Progressive noninfectious anterior vertebral fusion in a girl with axial mesodermal dysplasia spectrum. 61
18049085 2008
2
Severe fatal course of axial mesodermal dysplasia spectrum associated with complex cardiac defect in an infant of a mother with insulin dependent diabetes. 61
17676608 2007
3
Axial mesodermal dysplasia sequence: autopsy findings. 61
15127759 2004
4
Polytopic anomalies with agenesis of the lower vertebral column. 61
10533024 1999
5
Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth. 61
9132501 1997
6
New case of axial mesodermal dysplasia spectrum. 61
7726243 1995
7
Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother. 61
8775416 1995
8
Axial mesodermal dysplasia spectrum: affected sisters with oculoauriculovertebral "dysplasia" and caudal "regression" sequence. 61
7802018 1994
9
Axial mesodermal dysplasia spectrum: variable symptoms in affected sibs. 61
8362924 1993
10
Axial mesodermal dysplasia spectrum. 61
8465843 1993
11
Craniorachischisis totalis and sirenomelia. 61
1621765 1992
12
The axial mesodermal dysplasia spectrum. 61
7243441 1981

Variations for Axial Mesodermal Dysplasia Spectrum

Expression for Axial Mesodermal Dysplasia Spectrum

Search GEO for disease gene expression data for Axial Mesodermal Dysplasia Spectrum.

Pathways for Axial Mesodermal Dysplasia Spectrum

GO Terms for Axial Mesodermal Dysplasia Spectrum

Sources for Axial Mesodermal Dysplasia Spectrum

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32 ICD10
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48 NCI
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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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