ARUMS
MCID: ACR102
MIFTS: 28

Acrorenal-Mandibular Syndrome (ARUMS)

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Acrorenal-Mandibular Syndrome

MalaCards integrated aliases for Acrorenal-Mandibular Syndrome:

Name: Acrorenal-Mandibular Syndrome 56
Acrorenal Mandibular Syndrome 52 71
Split-Hand and Split-Foot with Mandibular Hypoplasia 56
Split Hand/split Foot-Mandibular Hypoplasia Syndrome 58
Acrorenal-Uterine-Mandibular Syndrome; Arums 56
Split Hand Split Foot Mandibular Hypoplasia 52
Acro-Renal-Uterine-Mandibular Syndrome 52
Acrorenal-Uterine-Mandibular Syndrome 56
Acro-Renal-Mandibular Syndrome 58
Arums 56

Characteristics:

Orphanet epidemiological data:

58
acro-renal-mandibular syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
acrorenal-mandibular syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Acrorenal-Mandibular Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 958 Definition A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Visit the Orphanet disease page for more resources.

MalaCards based summary : Acrorenal-Mandibular Syndrome, also known as acrorenal mandibular syndrome, is related to triiodothyronine receptor auxiliary protein and renal hypodysplasia/aplasia 1. Affiliated tissues include kidney, uterus and bone, and related phenotypes are renal hypoplasia/aplasia and split hand

More information from OMIM: 200980

Related Diseases for Acrorenal-Mandibular Syndrome

Diseases related to Acrorenal-Mandibular Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 20, show less)
# Related Disease Score Top Affiliating Genes
1 triiodothyronine receptor auxiliary protein 10.4
2 renal hypodysplasia/aplasia 1 10.3
3 uterine anomalies 10.3
4 polycystic kidney disease 10.2
5 kidney disease 10.2
6 split-hand/foot malformation 1 10.2
7 pierre robin syndrome 10.2
8 isolated pierre robin sequence 10.2
9 septate uterus 10.2
10 isolated split hand-split foot malformation 10.2
11 bladder cancer 10.1
12 breast cancer 10.1
13 neutrophil migration 10.1
14 urate oxidase, pseudogene 10.1
15 chlamydia pneumonia 10.1
16 bacterial infectious disease 10.1
17 chlamydia 10.1
18 angioedema 10.1
19 anoxia 10.1
20 posttransplant acute limbic encephalitis 10.1

Graphical network of the top 20 diseases related to Acrorenal-Mandibular Syndrome:



Diseases related to Acrorenal-Mandibular Syndrome

Symptoms & Phenotypes for Acrorenal-Mandibular Syndrome

Human phenotypes related to Acrorenal-Mandibular Syndrome:

58 31 (showing 59, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal hypoplasia/aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008678
2 split hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001171
3 hypoplasia of the ulna 58 31 hallmark (90%) Very frequent (99-80%) HP:0003022
4 hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0002984
5 split foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001839
6 rudimentary fibula 58 31 hallmark (90%) Very frequent (99-80%) HP:0006381
7 rudimentary to absent tibiae 58 31 hallmark (90%) Very frequent (99-80%) HP:0006426
8 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
9 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
10 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
11 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
12 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
13 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
14 hypoplasia of the zygomatic bone 58 31 frequent (33%) Frequent (79-30%) HP:0010669
15 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
16 abnormality of the clavicle 58 31 frequent (33%) Frequent (79-30%) HP:0000889
17 abnormality of the sense of smell 58 31 frequent (33%) Frequent (79-30%) HP:0004408
18 oligohydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001562
19 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
20 thin ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000883
21 bicornuate uterus 58 31 frequent (33%) Frequent (79-30%) HP:0000813
22 uterus didelphys 58 31 frequent (33%) Frequent (79-30%) HP:0003762
23 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
24 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
25 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
26 sprengel anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000912
27 narrow face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000275
28 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
29 hemivertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0002937
30 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
31 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
32 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
33 butterfly vertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0003316
34 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
35 aplasia/hypoplasia of the tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010295
36 abnormal lung lobation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002101
37 hypoplastic scapulae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000882
38 narrow palate 31 HP:0000189
39 abnormality of the cardiovascular system 31 HP:0001626
40 low-set ears 31 HP:0000369
41 epicanthus 31 HP:0000286
42 elbow flexion contracture 31 HP:0002987
43 kyphoscoliosis 31 HP:0002751
44 dolichocephaly 31 HP:0000268
45 polycystic kidney dysplasia 31 HP:0000113
46 hand polydactyly 31 HP:0001161
47 foot polydactyly 31 HP:0001829
48 narrow chest 31 HP:0000774
49 abnormality of the ureter 31 HP:0000069
50 toe syndactyly 31 HP:0001770
51 missing ribs 31 HP:0000921
52 posteriorly rotated ears 31 HP:0000358
53 renal agenesis 31 HP:0000104
54 absent nipple 31 HP:0002561
55 aplasia of the bladder 31 HP:0010477
56 abnormality of the breast 31 HP:0000769
57 scaphocephaly 31 HP:0030799
58 abnormal sacral segmentation 31 HP:0008468
59 unicornuate uterus 31 HP:0031909

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
narrow palate
high-arched palate

Skeletal Spine:
kyphoscoliosis
hemivertebrae
butterfly vertebrae
abnormal sacral segmentation

Skeletal Hands:
split hand
syndactyly

Chest Ribs Sternum Clavicles And Scapulae:
missing ribs
hypoplastic scapulae
irregular, thin ribs

Respiratory Lung:
pulmonary hypoplasia

Genitourinary Internal Genitalia Female:
bicornuate uterus
uterus didelphys
unicornuate uterus
septate uterus
single fallopian tube

Skeletal Limbs:
rudimentary to absent tibiae
elbow flexion contractures
hypoplastic radii
hypoplastic ulnae
rudimentary to absent fibulae

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds

Chest Breasts:
athelia

Head And Neck Face:
severe micrognathia

Chest Diaphragm:
diaphragmatic hernia

Genitourinary Bladder:
absent bladder

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Pelvis:
hip dislocation

Chest External Features:
narrow chest

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary Kidneys:
renal agenesis
polycystic kidneys

Skeletal Feet:
split foot
polydactyly
syndactyly

Head And Neck Head:
scaphocephaly

Skeletal Skull:
hypoplastic mandible

Growth Other:
intrauterine growth retardation (iugr)

Cardiovascular Vascular:
aberrant origin vertebral artery

Genitourinary Ureters:
absent ureters

Neurologic Peripheral Nervous System:
absent olfactory bulbs and tracts

Clinical features from OMIM:

200980

Drugs & Therapeutics for Acrorenal-Mandibular Syndrome

Search Clinical Trials , NIH Clinical Center for Acrorenal-Mandibular Syndrome

Genetic Tests for Acrorenal-Mandibular Syndrome

Anatomical Context for Acrorenal-Mandibular Syndrome

MalaCards organs/tissues related to Acrorenal-Mandibular Syndrome:

40
Kidney, Uterus, Bone, Lung, Breast, Olfactory Bulb, Tongue

Publications for Acrorenal-Mandibular Syndrome

Articles related to Acrorenal-Mandibular Syndrome:

(showing 8, show less)
# Title Authors PMID Year
1
Further characterization of acro-renal-uterine-mandibular syndrome: report of a case and review of earlier reports. 56
22391619 2012
2
A case of Acro-renal-mandibular syndrome in an 18 week male fetus. 56
11152151 2001
3
Severe acro-renal-uterine-mandibular syndrome. 56
10861684 2000
4
Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome? 56
7856636 1994
5
Acro-renal-mandibular syndrome. 56
7405959 1980
6
The pathogenesis of Potter's syndrome of renal agenesis. 56
4665096 1972
7
Polycystic kidney disease in neonate with acrorenal mandibular syndrome. 61
25075450 2014
8
Acrorenal Mandibular Syndrome. 61
27408026 2007

Variations for Acrorenal-Mandibular Syndrome

Expression for Acrorenal-Mandibular Syndrome

Search GEO for disease gene expression data for Acrorenal-Mandibular Syndrome.

Pathways for Acrorenal-Mandibular Syndrome

GO Terms for Acrorenal-Mandibular Syndrome

Sources for Acrorenal-Mandibular Syndrome

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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