MCID: ART048
MIFTS: 18

Arthrogryposis Multiplex Congenita Whistling Face

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Arthrogryposis Multiplex Congenita Whistling Face

MalaCards integrated aliases for Arthrogryposis Multiplex Congenita Whistling Face:

Name: Arthrogryposis Multiplex Congenita Whistling Face 50 69
Lethal Autosomal Recessive Arthrogryposis Multiplex Congenita with Whistling Face and Calcifications of the Nervous System 50
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome 50
Illum Syndrome 50

Classifications:



Summaries for Arthrogryposis Multiplex Congenita Whistling Face

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on arthrogryposis multiplex congenita.

MalaCards based summary : Arthrogryposis Multiplex Congenita Whistling Face, also known as lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system, is related to illum syndrome, and has symptoms including narrow mouth, abnormality of the palate and pierre-robin sequence. The drugs Adenosine and Menthol have been mentioned in the context of this disorder.

Related Diseases for Arthrogryposis Multiplex Congenita Whistling Face

Diseases related to Arthrogryposis Multiplex Congenita Whistling Face via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 illum syndrome 11.3

Symptoms & Phenotypes for Arthrogryposis Multiplex Congenita Whistling Face

Human phenotypes related to Arthrogryposis Multiplex Congenita Whistling Face:

32 (show all 24)
id Description HPO Frequency HPO Source Accession
1 narrow mouth 32 hallmark (90%) HP:0000160
2 abnormality of the palate 32 occasional (7.5%) HP:0000174
3 pierre-robin sequence 32 frequent (33%) HP:0000201
4 thin vermilion border 32 hallmark (90%) HP:0000233
5 full cheeks 32 hallmark (90%) HP:0000293
6 whistling appearance 32 hallmark (90%) HP:0000346
7 micrognathia 32 frequent (33%) HP:0000347
8 hearing abnormality 32 occasional (7.5%) HP:0000364
9 abnormality of the nose 32 occasional (7.5%) HP:0000366
10 low-set, posteriorly rotated ears 32 hallmark (90%) HP:0000368
11 blepharophimosis 32 hallmark (90%) HP:0000581
12 adducted thumb 32 hallmark (90%) HP:0001181
13 abnormality of the fingernails 32 occasional (7.5%) HP:0001231
14 seizures 32 hallmark (90%) HP:0001250
15 muscular hypotonia 32 hallmark (90%) HP:0001252
16 joint stiffness 32 hallmark (90%) HP:0001387
17 intrauterine growth retardation 32 frequent (33%) HP:0001511
18 polyhydramnios 32 hallmark (90%) HP:0001561
19 eeg abnormality 32 frequent (33%) HP:0002353
20 downturned corners of mouth 32 occasional (7.5%) HP:0002714
21 abnormality of the shoulder 32 hallmark (90%) HP:0003043
22 short stature 32 hallmark (90%) HP:0004322
23 dimple chin 32 occasional (7.5%) HP:0010751
24 severe global developmental delay 32 hallmark (90%) HP:0011344

Drugs & Therapeutics for Arthrogryposis Multiplex Congenita Whistling Face

Drugs for Arthrogryposis Multiplex Congenita Whistling Face (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2
Menthol Approved 2216-51-5 16666
3 Analgesics
4 Anti-Arrhythmia Agents
5 Neurotransmitter Agents
6 Peripheral Nervous System Agents
7 Vasodilator Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
2 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
3 Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions Terminated NCT01307475

Search NIH Clinical Center for Arthrogryposis Multiplex Congenita Whistling Face

Genetic Tests for Arthrogryposis Multiplex Congenita Whistling Face

Anatomical Context for Arthrogryposis Multiplex Congenita Whistling Face

Publications for Arthrogryposis Multiplex Congenita Whistling Face

Variations for Arthrogryposis Multiplex Congenita Whistling Face

Expression for Arthrogryposis Multiplex Congenita Whistling Face

Search GEO for disease gene expression data for Arthrogryposis Multiplex Congenita Whistling Face.

Pathways for Arthrogryposis Multiplex Congenita Whistling Face

GO Terms for Arthrogryposis Multiplex Congenita Whistling Face

Sources for Arthrogryposis Multiplex Congenita Whistling Face

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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