ARUMS
MCID: ACR102
MIFTS: 29

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 58
Acrorenal Mandibular Syndrome 54 74
Split-Hand and Split-Foot with Mandibular Hypoplasia 58
Split Hand/split Foot-Mandibular Hypoplasia Syndrome 60
Acrorenal-Uterine-Mandibular Syndrome; Arums 58
Split Hand Split Foot Mandibular Hypoplasia 54
Acro-Renal-Uterine-Mandibular Syndrome 54
Acrorenal-Uterine-Mandibular Syndrome 58
Acro-Renal-Mandibular Syndrome 60
Arums 58

Characteristics:

Orphanet epidemiological data:

60
acro-renal-mandibular syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
acrorenal-mandibular syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Acrorenal-Mandibular Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 958Disease definitionAcro-renal-mandibular syndrome is 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 polycystic kidney disease and kidney disease. Affiliated tissues include kidney, uterus and lung, and related phenotypes are renal hypoplasia/aplasia and split hand

Description 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:

# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 10.2
2 kidney disease 10.2
3 prostate cancer 10.0
4 prostate cancer, hereditary, 8 10.0
5 prostate cancer, hereditary, 6 10.0
6 chlamydia pneumonia 10.0
7 chlamydia 10.0
8 mediastinal endodermal sinus tumors 10.0

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:

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

Symptoms via clinical synopsis from OMIM:

58
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
septate uterus
unicornuate uterus
single fallopian tube

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

Skeletal Skull:
hypoplastic mandible

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 Eyes:
downslanting palpebral fissures
epicanthal folds

Head And Neck Head:
scaphocephaly

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:

42
Kidney, Uterus, Lung, Bone, Tongue, Breast, Olfactory Bulb

Publications for Acrorenal-Mandibular Syndrome

Articles related to Acrorenal-Mandibular Syndrome:

# Title Authors Year
1
Polycystic kidney disease in neonate with acrorenal mandibular syndrome. ( 25075450 )
2014
2
Acrorenal Mandibular Syndrome. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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