ARUMS
MCID: ACR102
MIFTS: 26

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 57
Acrorenal Mandibular Syndrome 53 72
Split-Hand and Split-Foot with Mandibular Hypoplasia 57
Split Hand/split Foot-Mandibular Hypoplasia Syndrome 59
Acrorenal-Uterine-Mandibular Syndrome; Arums 57
Split Hand Split Foot Mandibular Hypoplasia 53
Acro-Renal-Uterine-Mandibular Syndrome 53
Acrorenal-Uterine-Mandibular Syndrome 57
Acro-Renal-Mandibular Syndrome 59
Arums 57

Characteristics:

Orphanet epidemiological data:

59
acro-renal-mandibular syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
acrorenal-mandibular syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 200980
MESH via Orphanet 45 C535665
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1860166
Orphanet 59 ORPHA958
MedGen 42 C1860166
UMLS 72 C1860166

Summaries for Acrorenal-Mandibular Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 958DefinitionA 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 lung, 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:

(show all 21)
# 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 lymphocytic leukemia 10.1
17 bacterial infectious disease 10.1
18 chlamydia 10.1
19 angioedema 10.1
20 anoxia 10.1
21 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:

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal hypoplasia/aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008678
2 split hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001171
3 hypoplasia of the ulna 59 32 hallmark (90%) Very frequent (99-80%) HP:0003022
4 hypoplasia of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0002984
5 split foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001839
6 rudimentary fibula 59 32 hallmark (90%) Very frequent (99-80%) HP:0006381
7 rudimentary to absent tibiae 59 32 hallmark (90%) Very frequent (99-80%) HP:0006426
8 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
9 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
10 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
11 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
12 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
13 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
14 thin ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000883
15 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
16 oligohydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001562
17 abnormality of the sense of smell 59 32 frequent (33%) Frequent (79-30%) HP:0004408
18 abnormality of the clavicle 59 32 frequent (33%) Frequent (79-30%) HP:0000889
19 pulmonary hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002089
20 bicornuate uterus 59 32 frequent (33%) Frequent (79-30%) HP:0000813
21 uterus didelphys 59 32 frequent (33%) Frequent (79-30%) HP:0003762
22 hypoplasia of the zygomatic bone 32 frequent (33%) HP:0010669
23 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
24 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
25 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
26 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
27 tracheoesophageal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002575
28 sprengel anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000912
29 narrow face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000275
30 hemivertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0002937
31 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
32 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
33 butterfly vertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0003316
34 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
35 aplasia/hypoplasia of the tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0010295
36 abnormal lung lobation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002101
37 hypoplastic scapulae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000882
38 low-set ears 32 HP:0000369
39 narrow palate 32 HP:0000189
40 abnormality of the cardiovascular system 32 HP:0001626
41 dolichocephaly 32 HP:0000268
42 narrow chest 32 HP:0000774
43 epicanthus 32 HP:0000286
44 elbow flexion contracture 32 HP:0002987
45 kyphoscoliosis 32 HP:0002751
46 polycystic kidney dysplasia 32 HP:0000113
47 cheekbone underdevelopment 59 Frequent (79-30%)
48 hand polydactyly 32 HP:0001161
49 foot polydactyly 32 HP:0001829
50 toe syndactyly 32 HP:0001770

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Chest External Features:
narrow chest

Skeletal Pelvis:
hip dislocation

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

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 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

Genitourinary Kidneys:
renal agenesis
polycystic kidneys

Skeletal Feet:
syndactyly
split foot
polydactyly

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:

41
Kidney, Uterus, Lung, Bone, Tongue, Breast, Olfactory Bulb

Publications for Acrorenal-Mandibular Syndrome

Articles related to Acrorenal-Mandibular Syndrome:

# Title Authors PMID Year
1
Further characterization of acro-renal-uterine-mandibular syndrome: report of a case and review of earlier reports. 8
22391619 2012
2
A case of Acro-renal-mandibular syndrome in an 18 week male fetus. 8
11152151 2001
3
Severe acro-renal-uterine-mandibular syndrome. 8
10861684 2000
4
Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome? 8
7856636 1994
5
Acro-renal-mandibular syndrome. 8
7405959 1980
6
The pathogenesis of Potter's syndrome of renal agenesis. 8
4665096 1972
7
Polycystic kidney disease in neonate with acrorenal mandibular syndrome. 38
25075450 2014
8
Acrorenal Mandibular Syndrome. 38
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 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
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