POADS
MCID: PST049
MIFTS: 50

Postaxial Acrofacial Dysostosis (POADS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Postaxial Acrofacial Dysostosis

MalaCards integrated aliases for Postaxial Acrofacial Dysostosis:

Name: Postaxial Acrofacial Dysostosis 57 12 43 58 72 15
Miller Syndrome 57 12 20 43 58 72 29 13 6 39
Genee-Wiedemann Syndrome 57 20 43 44 70
Poads 57 12 58 72 54
Genee-Wiedemann Acrofacial Dysostosis 20 43
Postaxial Acrodysostosis 12 58
Mandibulofacial Dysostosis with Postaxial Limb Anomalies 58
Mandibulfacial Dysostosis with Postaxial Limb Anomalies 12
Acrofacial Dysostosis, Genee-Wiedemann Type 58
Acrofacial Dysostosis, Genee-Wiedmann Type 12
Postaxial Acrofacial Dysostosis Syndrome 20
Chromosome 11p Deletion Syndrome 70
Wildervanck-Smith Syndrome 20
Genée-Wiedemann Syndrome 73
Poads Syndrome 20
Gwafd 20

Characteristics:

Orphanet epidemiological data:

58
postaxial acrofacial dysostosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
most cases are sporadic
autosomal recessive and dominant pedigrees described


HPO:

31
postaxial acrofacial dysostosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Postaxial Acrofacial Dysostosis

MedlinePlus Genetics : 43 Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening in the roof of the mouth (cleft palate) and/or a split in the upper lip (cleft lip). These abnormalities frequently cause feeding problems in infants with Miller syndrome. The airway is usually restricted due to the micrognathia, which can lead to life-threatening breathing problems.People with Miller syndrome often have eyes that slant downward, eyelids that turn out so the inner surface is exposed (ectropion), and a notch in the lower eyelids called an eyelid coloboma. Many affected individuals have small, cup-shaped ears, and some have hearing loss caused by defects in the middle ear (conductive hearing loss). Another feature of this condition is the presence of extra nipples. Miller syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment.Individuals with Miller syndrome have various bone abnormalities in their arms and legs. The most common problem is absent fifth (pinky) fingers and toes. Affected individuals may also have webbed or fused fingers or toes (syndactyly) and abnormally formed bones in the forearms and lower legs. People with Miller syndrome sometimes have defects in other bones, such as the ribs or spine.Less commonly, affected individuals have abnormalities of the heart, kidneys, genitalia, or gastrointestinal tract.

MalaCards based summary : Postaxial Acrofacial Dysostosis, also known as miller syndrome, is related to dysostosis and acrofacial dysostosis. An important gene associated with Postaxial Acrofacial Dysostosis is DHODH (Dihydroorotate Dehydrogenase (Quinone)), and among its related pathways/superpathways is PKMTs methylate histone lysines. The drugs Paclitaxel and Antimitotic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and kidney, and related phenotypes are microtia and micrognathia

Disease Ontology : 12 A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has material basis in homozygous or compound heterozygous mutation in DHODH on 16q22.2.

GARD : 20 Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. The severity of the disorder varies among affected individuals. Miller syndrome is caused by mutations in the DHODH gene. It is inherited in an autosomal recessive manner.

OMIM® : 57 Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010). (263750) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Postaxial acrofacial dysostosis: POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases.

Wikipedia : 73 Miller syndrome, also known as Genée-Wiedemann syndrome, Wildervanck-Smith syndrome or postaxial... more...

Related Diseases for Postaxial Acrofacial Dysostosis

Diseases related to Postaxial Acrofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 dysostosis 31.5 TCOF1 SF3B4 EFTUD2 DHODH
2 acrofacial dysostosis 31.0 TCOF1 SF3B4 POLR1D OR56A5 EFTUD2 DHODH
3 treacher collins syndrome 1 30.5 TCOF1 SF3B4 POLR1D EFTUD2 DHODH
4 acrofacial dysostosis 1, nager type 30.3 TCOF1 SF3B4 POLR1D OR56A5 EFTUD2
5 microcephaly with chemotactic defect and transient hypogammaglobulinemia 11.5
6 chondrodysplasia punctata syndrome 11.2
7 alagille syndrome 1 11.2
8 pierre robin syndrome and oligodactyly 10.3
9 microtia 10.3 TCOF1 EFTUD2
10 acrofacial dysostosis, cincinnati type 10.3 TCOF1 POLR1D
11 pyrimidine metabolic disorder 10.3 UMPS DHODH
12 hemifacial microsomia 10.2 TCOF1 POLR1D EFTUD2
13 mandibulofacial dysostosis, guion-almeida type 10.2 SF3B4 POLR1D EFTUD2
14 volvulus of midgut 10.2
15 preaxial hallucal polydactyly 10.2
16 microcephaly 10.2
17 clubfoot 10.2
18 ectropion 10.2
19 isolated pierre robin sequence 10.2
20 seizure disorder 10.2
21 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
22 burn-mckeown syndrome 10.2 SF3B4 EFTUD2
23 bowen-conradi syndrome 10.2 TCOF1 POLR1D
24 isolated growth hormone deficiency type iii 10.1 KMT2D KMT2B
25 charge syndrome 10.1 TCOF1 KMT2D EFTUD2
26 choanal atresia, posterior 10.1 TCOF1 EFTUD2
27 coloboma of macula 10.1 TCOF1 POLR1D PIGV EFTUD2
28 distal arthrogryposis 10.0 SETBP1 OR4C3 MYH3 DHODH
29 cleft palate, isolated 10.0 TCOF1 SF3B4 POLR1D EFTUD2
30 cerebrocostomandibular syndrome 10.0 SF3B4 EFTUD2
31 deafness, autosomal dominant 3b 9.9 TPRN CEACAM16
32 deafness, autosomal recessive 79 9.8 TPRN CEACAM16
33 deafness, autosomal recessive 1b 9.8 TPRN CEACAM16
34 polydactyly 9.8
35 extrapulmonary tuberculosis 9.8

Graphical network of the top 20 diseases related to Postaxial Acrofacial Dysostosis:



Diseases related to Postaxial Acrofacial Dysostosis

Symptoms & Phenotypes for Postaxial Acrofacial Dysostosis

Human phenotypes related to Postaxial Acrofacial Dysostosis:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
4 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
5 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
6 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
7 hypoplasia of the ulna 58 31 hallmark (90%) Very frequent (99-80%) HP:0003022
8 supernumerary nipple 58 31 hallmark (90%) Very frequent (99-80%) HP:0002558
9 hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0002984
10 cupped ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000378
11 ectropion of lower eyelids 58 31 hallmark (90%) Very frequent (99-80%) HP:0007651
12 eyelid coloboma 31 hallmark (90%) HP:0000625
13 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
14 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
15 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
16 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
17 non-midline cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0100335
18 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
19 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
20 malformation of the heart and great vessels 58 Frequent (79-30%)
21 cryptorchidism 31 HP:0000028
22 growth delay 31 HP:0001510
23 postnatal growth retardation 31 HP:0008897
24 low-set ears 31 HP:0000369
25 pectus excavatum 31 HP:0000767
26 congenital hip dislocation 31 HP:0001374
27 micropenis 31 HP:0000054
28 cleft upper lip 31 HP:0000204
29 choanal atresia 31 HP:0000453
30 cleft eyelid 58 Very frequent (99-80%)
31 radioulnar synostosis 31 HP:0002974
32 abnormality of the kidney 31 HP:0000077
33 short thumb 31 HP:0009778
34 pyloric stenosis 31 HP:0002021
35 abnormality of the middle ear 58 Frequent (79-30%)
36 ectropion 31 HP:0000656
37 conical tooth 31 HP:0000698
38 syndactyly 31 HP:0001159
39 midgut malrotation 31 HP:0005211
40 abnormal foot morphology 31 HP:0001760
41 supernumerary vertebrae 31 HP:0002946

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Face:
micrognathia

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
rib defects

Genitourinary External Genitalia Male:
micropenis

Skeletal Limbs:
radioulnar synostosis
radial hypoplasia
ulnar hypoplasia
in-curving forearms

Head And Neck Eyes:
ectropion
eyelid coloboma
downslanting palpebral fissure

Skeletal Spine:
supernumerary vertebrae

Head And Neck Teeth:
conical teeth

Genitourinary Kidneys:
renal anomalies

Skeletal Feet:
absence of fifth digit

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
conductive hearing loss
cup-shaped ears

Skeletal Pelvis:
congenital hip dislocation

Head And Neck Nose:
choanal atresia

Abdomen Gastrointestinal:
pyloric stenosis
midgut malrotation

Skeletal Hands:
syndactyly
thumb hypoplasia
absence of fifth digit

Chest Breasts:
accessory nipples

Skeletal Skull:
malar hypoplasia

Growth Other:
postnatal growth deficiency

Clinical features from OMIM®:

263750 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Postaxial Acrofacial Dysostosis according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.75 SF3B4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.75 SLC26A3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.75 SF3B4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.75 SLC26A3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.75 SETBP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.75 SF3B4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.75 EFTUD2 SF3B4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.75 SETBP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.75 EFTUD2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.75 EFTUD2 SF3B4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.75 SETBP1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.75 SETBP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.75 SETBP1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.75 SETBP1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.75 SF3B4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.75 EFTUD2 SF3B4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.75 EFTUD2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.75 EFTUD2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.75 SLC26A3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.75 SETBP1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.75 EFTUD2 SETBP1 SF3B4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-84 9.75 SF3B4

MGI Mouse Phenotypes related to Postaxial Acrofacial Dysostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.1 CEACAM16 DNAH5 KMT2D PLAT TCOF1 TPRN

Drugs & Therapeutics for Postaxial Acrofacial Dysostosis

Drugs for Postaxial Acrofacial Dysostosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
2 Antimitotic Agents Phase 1
3 Albumin-Bound Paclitaxel Phase 1
4 Tubulin Modulators Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-Labeled Multicenter Study to Investigate Plasma Levels and Catheter Tolerability Following Application of Paclitaxel Coated Balloon Catheter in Patients With Stenotic, or Occluded Femoro-Popliteal Arteries Due to Atherosclerosis Completed NCT01007578 Phase 1

Search NIH Clinical Center for Postaxial Acrofacial Dysostosis

Cochrane evidence based reviews: genee-wiedemann syndrome

Genetic Tests for Postaxial Acrofacial Dysostosis

Genetic tests related to Postaxial Acrofacial Dysostosis:

# Genetic test Affiliating Genes
1 Miller Syndrome 29 DHODH

Anatomical Context for Postaxial Acrofacial Dysostosis

MalaCards organs/tissues related to Postaxial Acrofacial Dysostosis:

40
Eye, Heart, Kidney

Publications for Postaxial Acrofacial Dysostosis

Articles related to Postaxial Acrofacial Dysostosis:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Exome sequencing identifies the cause of a mendelian disorder. 57 6 61
19915526 2010
2
Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients. 61 6
22967083 2012
3
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. 61 6
22692683 2012
4
Extra phenotypic features in a girl with Miller syndrome. 61 6
21346561 2011
5
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. 57 61
20220176 2010
6
Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance. 57 61
8375109 1993
7
Familial postaxial acrofacial dysostosis syndrome. 61 57
1433242 1992
8
Postaxial acrofacial dysostosis: report on two patients. 61 57
1488973 1992
9
Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype. 57 61
1941965 1991
10
Postaxial acrofacial dysostosis: report of a Brazilian patient. 57 61
2596501 1989
11
Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients. 57 61
2721025 1989
12
Postaxial acrofacial dysostosis or Miller syndrome. A case report. 61 57
2920751 1989
13
Acrofacial dysostosis with postaxial limb deficiency. 61 57
3344768 1988
14
Postaxial acrofacial dysostosis (Miller) syndrome. 57 61
3612717 1987
15
Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling. 57 61
7452413 1981
16
Postaxial acrofacial dysostosis syndrome. 61 57
501501 1979
17
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. 57
12210332 2002
18
[An extensive form of mandibulo-facial dysostosis]. 57
5808539 1969
19
SEX LIMITED INHERITANCE IN DROSOPHILA. 57
17759620 1910
20
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses. 61
33262786 2020
21
Preparation of human dihydroorotate dehydrogenase for interaction studies with lipid bilayers. 61
31997699 2020
22
Mitochondrial nucleic acid binding proteins associated with diseases. 61
27814609 2017
23
Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine. 61
27370710 2016
24
Dihydroorotate dehydrogenase depletion hampers mitochondrial function and osteogenic differentiation in osteoblasts. 61
27086500 2016
25
Versatility of Distraction Osteogenesis for the Craniofacial Skeleton. 61
26999694 2016
26
Orotic Acid, More Than Just an Intermediate of Pyrimidine de novo Synthesis. 61
26059769 2015
27
Orodental findings in postaxial acrofacial dysostosis. 61
24959059 2014
28
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. 61
23913624 2013
29
Human facial dysostoses. 61
23565775 2013
30
Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction. 61
23216091 2013
31
Identifying Mendelian disease genes with the variant effect scoring tool. 61
23819870 2013
32
Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. 61
22532433 2012
33
A case report: nager acrofacial dysostosis. 61
24303385 2012
34
Finding disease variants in Mendelian disorders by using sequence data: methods and applications. 61
22137099 2011
35
Miller syndrome with novel dihydroorotate dehydrogenase gene mutations. 61
21851494 2011
36
Revisiting Mendelian disorders through exome sequencing. 61
21331778 2011
37
Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome? 61
20412112 2010
38
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. 61
20601685 2010
39
Exome sequencing makes medical genomics a reality. 61
20037612 2010
40
[Cerebromediastinal tuberculosis in a child with a probable Say-Barber-Miller syndrome: a causative link?]. 61
19108857 2009
41
A variant or a "new" postaxial acrofacial dysostosis syndrome. 61
18286304 2008
42
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. 61
18000904 2007
43
A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance. 61
16523509 2006
44
Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. 61
15770127 2005
45
The fetal mandible: a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia. 61
11876802 2002
46
[Correction of deformities and length discrepancies of the forearm in children by distraction osteogenesis]. 61
12510091 2002
47
Syndromic ear anomalies and renal ultrasounds. 61
11483842 2001
48
[Guillain-Barre syndrome. Experience in a third level hospital]. 61
11599477 2001
49
[Acrofacial dysostosis, postaxial type (postaxial acrofacial dysostosis: POAD)]. 61
11462366 2001
50
Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. 61
11063257 2000

Variations for Postaxial Acrofacial Dysostosis

ClinVar genetic disease variations for Postaxial Acrofacial Dysostosis:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DHODH NM_001361.5(DHODH):c.595C>T (p.Arg199Cys) SNV Pathogenic 16808 rs267606769 GRCh37: 16:72055100-72055100
GRCh38: 16:72021201-72021201
2 DHODH NM_001361.5(DHODH):c.730C>T (p.Arg244Trp) SNV Pathogenic 16806 rs267606768 GRCh37: 16:72056285-72056285
GRCh38: 16:72022386-72022386
3 DHODH NM_001361.5(DHODH):c.605G>A (p.Gly202Asp) SNV Pathogenic 16805 rs267606767 GRCh37: 16:72055110-72055110
GRCh38: 16:72021211-72021211
4 DHODH NM_001361.5(DHODH):c.605G>C (p.Gly202Ala) SNV Pathogenic 16804 rs267606767 GRCh37: 16:72055110-72055110
GRCh38: 16:72021211-72021211
5 DHODH NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp) SNV Pathogenic 16800 rs201947120 GRCh37: 16:72057435-72057435
GRCh38: 16:72023536-72023536
6 DHODH NM_001361.5(DHODH):c.611del (p.Leu204fs) Deletion Pathogenic 16807 rs1215488320 GRCh37: 16:72055116-72055116
GRCh38: 16:72021217-72021217
7 DHODH NM_001361.5(DHODH):c.56G>A (p.Gly19Glu) SNV Pathogenic 16802 rs267606765 GRCh37: 16:72045983-72045983
GRCh38: 16:72012084-72012084
8 DHODH NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) SNV Pathogenic/Likely pathogenic 16801 rs201230446 GRCh37: 16:72048540-72048540
GRCh38: 16:72014641-72014641
9 DHODH NM_001361.5(DHODH):c.804C>T (p.Ala268=) SNV Uncertain significance 320430 rs374538940 GRCh37: 16:72056359-72056359
GRCh38: 16:72022460-72022460
10 DHODH NM_001361.5(DHODH):c.949C>T (p.Arg317Trp) SNV Uncertain significance 320437 rs192923495 GRCh37: 16:72057193-72057193
GRCh38: 16:72023294-72023294
11 DHODH NM_001361.5(DHODH):c.1020C>T (p.Asp340=) SNV Uncertain significance 769423 rs199666119 GRCh37: 16:72057419-72057419
GRCh38: 16:72023520-72023520
12 DHODH NM_001361.5(DHODH):c.22-11C>T SNV Uncertain significance 320418 rs770515591 GRCh37: 16:72045938-72045938
GRCh38: 16:72012039-72012039
13 DHODH NM_001361.5(DHODH):c.1043G>C (p.Gly348Ala) SNV Uncertain significance 884529 GRCh37: 16:72057442-72057442
GRCh38: 16:72023543-72023543
14 DHODH NM_001361.5(DHODH):c.72C>G (p.Phe24Leu) SNV Uncertain significance 884464 GRCh37: 16:72045999-72045999
GRCh38: 16:72012100-72012100
15 DHODH NM_001361.5(DHODH):c.73G>A (p.Ala25Thr) SNV Uncertain significance 884465 GRCh37: 16:72046000-72046000
GRCh38: 16:72012101-72012101
16 DHODH NM_001361.5(DHODH):c.973+11C>T SNV Uncertain significance 884527 GRCh37: 16:72057228-72057228
GRCh38: 16:72023329-72023329
17 DHODH NM_001361.5(DHODH):c.*936T>C SNV Uncertain significance 884596 GRCh37: 16:72059034-72059034
GRCh38: 16:72025135-72025135
18 DHODH NM_001361.5(DHODH):c.498G>A (p.Lys166=) SNV Uncertain significance 885401 GRCh37: 16:72050986-72050986
GRCh38: 16:72017087-72017087
19 DHODH NM_001361.5(DHODH):c.505A>C (p.Lys169Gln) SNV Uncertain significance 885402 GRCh37: 16:72050993-72050993
GRCh38: 16:72017094-72017094
20 DHODH NM_001361.5(DHODH):c.518-11G>A SNV Uncertain significance 885403 GRCh37: 16:72055012-72055012
GRCh38: 16:72021113-72021113
21 DHODH NM_001361.5(DHODH):c.546G>T (p.Gly182=) SNV Uncertain significance 885404 GRCh37: 16:72055051-72055051
GRCh38: 16:72021152-72021152
22 DHODH NM_001361.5(DHODH):c.1048T>G (p.Ser350Ala) SNV Uncertain significance 885463 GRCh37: 16:72057447-72057447
GRCh38: 16:72023548-72023548
23 DHODH NM_001361.5(DHODH):c.*144G>A SNV Uncertain significance 885464 GRCh37: 16:72058242-72058242
GRCh38: 16:72024343-72024343
24 DHODH NM_001361.5(DHODH):c.*216G>A SNV Uncertain significance 885465 GRCh37: 16:72058314-72058314
GRCh38: 16:72024415-72024415
25 DHODH NM_001361.5(DHODH):c.*341C>T SNV Uncertain significance 886485 GRCh37: 16:72058439-72058439
GRCh38: 16:72024540-72024540
26 DHODH NM_001361.5(DHODH):c.*349A>C SNV Uncertain significance 886486 GRCh37: 16:72058447-72058447
GRCh38: 16:72024548-72024548
27 DHODH NM_001361.5(DHODH):c.*372C>T SNV Uncertain significance 886487 GRCh37: 16:72058470-72058470
GRCh38: 16:72024571-72024571
28 DHODH NM_001361.5(DHODH):c.*383G>A SNV Uncertain significance 886488 GRCh37: 16:72058481-72058481
GRCh38: 16:72024582-72024582
29 DHODH NM_001361.5(DHODH):c.606C>T (p.Gly202=) SNV Uncertain significance 887488 GRCh37: 16:72055111-72055111
GRCh38: 16:72021212-72021212
30 DHODH NM_001361.5(DHODH):c.14A>G (p.His5Arg) SNV Uncertain significance 887617 GRCh37: 16:72042677-72042677
GRCh38: 16:72008778-72008778
31 DHODH NM_001361.5(DHODH):c.*645T>C SNV Uncertain significance 887738 GRCh37: 16:72058743-72058743
GRCh38: 16:72024844-72024844
32 DHODH NM_001361.5(DHODH):c.*795C>T SNV Uncertain significance 887739 GRCh37: 16:72058893-72058893
GRCh38: 16:72024994-72024994
33 DHODH NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) SNV Uncertain significance 16803 rs267606766 GRCh37: 16:72050942-72050942
GRCh38: 16:72017043-72017043
34 DHODH NM_001361.5(DHODH):c.*819A>G SNV Uncertain significance 320454 rs886052282 GRCh37: 16:72058917-72058917
GRCh38: 16:72025018-72025018
35 DHODH NM_001361.5(DHODH):c.959A>C (p.Tyr320Ser) SNV Uncertain significance 320438 rs886052279 GRCh37: 16:72057203-72057203
GRCh38: 16:72023304-72023304
36 DHODH NM_001361.5(DHODH):c.881G>A (p.Gly294Asp) SNV Uncertain significance 320435 rs369181023 GRCh37: 16:72057125-72057125
GRCh38: 16:72023226-72023226
37 DHODH NM_001361.5(DHODH):c.492G>T (p.Gln164His) SNV Uncertain significance 320422 rs768224976 GRCh37: 16:72050980-72050980
GRCh38: 16:72017081-72017081
38 DHODH NM_001361.5(DHODH):c.*64C>G SNV Uncertain significance 320442 rs886052280 GRCh37: 16:72058162-72058162
GRCh38: 16:72024263-72024263
39 DHODH NM_001361.5(DHODH):c.1009A>T (p.Ser337Cys) SNV Uncertain significance 320440 rs376142632 GRCh37: 16:72057408-72057408
GRCh38: 16:72023509-72023509
40 DHODH NM_001361.5(DHODH):c.570C>T (p.Ala190=) SNV Uncertain significance 320424 rs149123373 GRCh37: 16:72055075-72055075
GRCh38: 16:72021176-72021176
41 DHODH NM_001361.5(DHODH):c.666C>G (p.Ser222Arg) SNV Uncertain significance 320426 rs528598713 GRCh37: 16:72055171-72055171
GRCh38: 16:72021272-72021272
42 DHODH NM_001361.5(DHODH):c.*841G>A SNV Uncertain significance 320455 rs764720601 GRCh37: 16:72058939-72058939
GRCh38: 16:72025040-72025040
43 DHODH NM_001361.5(DHODH):c.959A>G (p.Tyr320Cys) SNV Uncertain significance 320439 rs886052279 GRCh37: 16:72057203-72057203
GRCh38: 16:72023304-72023304
44 DHODH NM_001361.5(DHODH):c.890G>A (p.Arg297His) SNV Uncertain significance 320436 rs200181357 GRCh37: 16:72057134-72057134
GRCh38: 16:72023235-72023235
45 DHODH NM_001361.5(DHODH):c.*500G>A SNV Uncertain significance 320447 rs886052281 GRCh37: 16:72058598-72058598
GRCh38: 16:72024699-72024699
46 DHODH NM_001361.5(DHODH):c.*189C>T SNV Uncertain significance 320444 rs750442401 GRCh37: 16:72058287-72058287
GRCh38: 16:72024388-72024388
47 DHODH NM_001361.5(DHODH):c.655G>A (p.Gly219Arg) SNV Uncertain significance 320425 rs369556950 GRCh37: 16:72055160-72055160
GRCh38: 16:72021261-72021261
48 DHODH NM_001361.5(DHODH):c.517+8G>A SNV Uncertain significance 320423 rs758925798 GRCh37: 16:72051013-72051013
GRCh38: 16:72017114-72017114
49 DHODH NM_001361.5(DHODH):c.869C>T (p.Ala290Val) SNV Uncertain significance 320434 rs199626701 GRCh37: 16:72057113-72057113
GRCh38: 16:72023214-72023214
50 DHODH NM_001361.5(DHODH):c.807T>A (p.Ser269Arg) SNV Uncertain significance 320431 rs886052277 GRCh37: 16:72056362-72056362
GRCh38: 16:72022463-72022463

UniProtKB/Swiss-Prot genetic disease variations for Postaxial Acrofacial Dysostosis:

72
# Symbol AA change Variation ID SNP ID
1 DHODH p.Gly19Glu VAR_062412 rs267606765
2 DHODH p.Arg135Cys VAR_062413 rs201230446
3 DHODH p.Gly152Arg VAR_062414 rs267606766
4 DHODH p.Arg199Cys VAR_062415 rs267606769
5 DHODH p.Gly202Ala VAR_062416 rs267606767
6 DHODH p.Gly202Asp VAR_062417 rs267606767
7 DHODH p.Arg244Trp VAR_062418 rs267606768
8 DHODH p.Thr284Ile VAR_062419
9 DHODH p.Arg346Trp VAR_062420 rs201947120
10 DHODH p.Asp392Gly VAR_062421 rs779076692

Expression for Postaxial Acrofacial Dysostosis

Search GEO for disease gene expression data for Postaxial Acrofacial Dysostosis.

Pathways for Postaxial Acrofacial Dysostosis

Pathways related to Postaxial Acrofacial Dysostosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.95 SETBP1 KMT2D KMT2B

GO Terms for Postaxial Acrofacial Dysostosis

Biological processes related to Postaxial Acrofacial Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone H3-K4 methylation GO:0051568 9.4 KMT2D KMT2B
2 pyrimidine nucleotide biosynthetic process GO:0006221 9.37 UMPS DHODH
3 histone H3-K4 monomethylation GO:0097692 9.32 KMT2D KMT2B
4 histone H3-K4 dimethylation GO:0044648 9.26 KMT2D KMT2B
5 'de novo' pyrimidine nucleobase biosynthetic process GO:0006207 9.16 UMPS DHODH
6 pyrimidine nucleoside biosynthetic process GO:0046134 8.96 UMPS DHODH
7 'de novo' UMP biosynthetic process GO:0044205 8.62 UMPS DHODH

Molecular functions related to Postaxial Acrofacial Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone methyltransferase activity (H3-K4 specific) GO:0042800 8.62 KMT2D KMT2B

Sources for Postaxial Acrofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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