JMS
MCID: JHN004
MIFTS: 30

Johnson Neuroectodermal Syndrome (JMS)

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Johnson Neuroectodermal Syndrome

MalaCards integrated aliases for Johnson Neuroectodermal Syndrome:

Name: Johnson Neuroectodermal Syndrome 56 52 58 71
Johnson-Mcmillin Syndrome 56 52 58
Alopecia-Anosmia-Deafness-Hypogonadism Syndrome 56 58
Aadh Syndrome 56 52
Alopecia-Anosmia-Conductive Hearing Loss-Hypogonadism Syndrome 58
Alopecia Anosmia Deafness Hypogonadism Syndrome 52
Johnson-Mcmillin Syndrome; Jms 56
Jms 56

Characteristics:

Orphanet epidemiological data:

58
johnson neuroectodermal syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
johnson neuroectodermal syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Johnson Neuroectodermal 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: 2316 Definition Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism . Epidemiology So far, less than 30 cases have been described in the literature. Clinical description Other variable features include a congenital heart defect , facial asymmetry, intellectual deficit, cleft palate , choanal stenosis and an increased tendency for dental caries. Etiology The aetiology is unknown but the combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest. Genetic counseling The syndrome is transmitted as an autosomal dominant trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Johnson Neuroectodermal Syndrome, also known as johnson-mcmillin syndrome, is related to mental retardation, x-linked, syndromic, turner type and mental retardation-hypotonic facies syndrome, x-linked, 1. Affiliated tissues include heart, skin and testes, and related phenotypes are alopecia and conductive hearing impairment

Wikipedia : 74 Johnson-McMillin syndrome, also known as Johnson neuroectodermal syndrome, is a neuroectodermal syndrome... more...

More information from OMIM: 147770

Related Diseases for Johnson Neuroectodermal Syndrome

Diseases related to Johnson Neuroectodermal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic, turner type 11.5
2 mental retardation-hypotonic facies syndrome, x-linked, 1 11.2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
4 deafness-hypogonadism syndrome 10.6
5 branchiootic syndrome 1 10.6
6 alopecia 10.6
7 hypogonadism 10.5
8 anhidrosis 10.5
9 cleft palate, isolated 10.4
10 mandibulofacial dysostosis with alopecia 10.4
11 hypogonadotropic hypogonadism 10.4
12 microtia 10.4
13 hydrocephalus 10.3
14 coloboma of macula 10.3
15 tetralogy of fallot 10.3
16 polydactyly 10.3
17 microcephaly 10.3
18 facial paralysis 10.3
19 dysostosis 10.3
20 dental caries 10.3
21 hypotrichosis 10.3
22 congenital hydrocephalus 10.3
23 back pain 10.2
24 bladder cancer 10.2
25 body mass index quantitative trait locus 1 10.2
26 ovarian cancer 10.1
27 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1
28 allergic hypersensitivity disease 10.1
29 neutropenia 10.1
30 neonatal jaundice 10.1
31 48,xyyy 10.1
32 chronic pain 10.1
33 breast cancer 9.9
34 colorectal cancer 9.9
35 renal cell carcinoma, nonpapillary 9.9
36 ocular dominance 9.9
37 sarcoidosis 1 9.9
38 triiodothyronine receptor auxiliary protein 9.9
39 vesicoureteral reflux 1 9.9
40 lung cancer 9.9
41 lymphoma, hodgkin, classic 9.9
42 hydrocephalus, congenital, 1 9.9
43 myeloma, multiple 9.9
44 body mass index quantitative trait locus 11 9.9
45 oncocytoma 9.9
46 prostatic hyperplasia, benign 9.9
47 autoimmune lymphoproliferative syndrome 9.9
48 body mass index quantitative trait locus 9 9.9
49 body mass index quantitative trait locus 8 9.9
50 sickle cell anemia 9.9

Graphical network of the top 20 diseases related to Johnson Neuroectodermal Syndrome:



Diseases related to Johnson Neuroectodermal Syndrome

Symptoms & Phenotypes for Johnson Neuroectodermal Syndrome

Human phenotypes related to Johnson Neuroectodermal Syndrome:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
2 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
3 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
4 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
5 sparse hair 31 occasional (7.5%) HP:0008070
6 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
7 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
8 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
9 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
10 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
11 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
12 absent eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000561
13 severe short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003510
14 absent eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002223
15 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
16 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
17 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
18 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
19 hypohidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000966
20 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
21 multiple cafe-au-lait spots 58 31 occasional (7.5%) Occasional (29-5%) HP:0007565
22 anosmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000458
23 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
24 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
25 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
26 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
27 retrognathia 31 occasional (7.5%) HP:0000278
28 micropenis 31 occasional (7.5%) HP:0000054
29 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
30 ventricular septal defect 31 occasional (7.5%) HP:0001629
31 decreased testicular size 31 occasional (7.5%) HP:0008734
32 choanal stenosis 31 occasional (7.5%) HP:0000452
33 right aortic arch 31 occasional (7.5%) HP:0012020
34 short stature 31 HP:0004322
35 growth delay 31 HP:0001510
36 hypotrichosis 58 Very frequent (99-80%)
37 hand polydactyly 58 Occasional (29-5%)
38 abnormality of cardiovascular system morphology 31 HP:0030680
39 hypogonadotropic hypogonadism 31 HP:0000044

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
microtia
conductive deafness
external auditory canal atresia
protruding ears

Skin Nails Hair Skin:
hypohidrosis
multiple truncal cafe-au-lait spots (rare)

Growth Other:
growth retardation

Cardiovascular Heart:
ventricular septal defect (rare)
tetralogy of fallot (rare) coarctation of the aorta (rare)
right aortic arch (rare)
atrial septal defect, ostium secundum (rare)
small left ventricle (rare)
more
Head And Neck Head:
alopecia, total (in some patients)
sparse hair (in some patients)
microcephaly (rare)

Head And Neck Face:
mild facial asymmetry (in some patients)
retrognathia (rare)

Head And Neck Teeth:
tendency to dental caries

Genitourinary External Genitalia Male:
small penis (rare)

Skin Nails Hair Hair:
alopecia, total or partial

Endocrine Features:
hypogonadotropic hypogonadism (rare)

Growth Height:
short stature

Head And Neck Eyes:
absent eyelashes
absent eyebrows

Neurologic Central Nervous System:
mental retardation (in some patients)

Head And Neck Mouth:
cleft palate (rare)

Skeletal Skull:
microcephaly (rare)

Head And Neck Nose:
anosmia or hyposmia (in some patients)
choanal stenosis (rare)

Cardiovascular Vascular:
patent ductus arteriosus (rare)

Genitourinary Internal Genitalia Male:
small testes (rare)

Neurologic Peripheral Nervous System:
facial nerve palsy (in some patients)

Clinical features from OMIM:

147770

Drugs & Therapeutics for Johnson Neuroectodermal Syndrome

Search Clinical Trials , NIH Clinical Center for Johnson Neuroectodermal Syndrome

Genetic Tests for Johnson Neuroectodermal Syndrome

Anatomical Context for Johnson Neuroectodermal Syndrome

MalaCards organs/tissues related to Johnson Neuroectodermal Syndrome:

40
Heart, Skin, Testes

Publications for Johnson Neuroectodermal Syndrome

Articles related to Johnson Neuroectodermal Syndrome:

# Title Authors PMID Year
1
Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case. 61 56
12838563 2003
2
Johnson-McMillin syndrome: report of another family. 56 61
7747766 1994
3
Johnson-McMillin syndrome: report of another family. 56 61
8267002 1993
4
Alopecia-anosmia-deafness-hypogonadism syndrome revisited: report of a new case. 56
3591836 1987
5
A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism. 56
6881216 1983
6
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. 61
25772936 2015
7
Johnson-McMillin Microtia Syndrome: New Additional Family. 61
25374870 2014
8
Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? 61
20583178 2010
9
Johnson-McMillin syndrome: report of a new case with novel features. 61
16116593 2005
10
Hypogonadotropic hypogonadism in a female with the Johnson-McMillin syndrome. 61
15547553 2004

Variations for Johnson Neuroectodermal Syndrome

Expression for Johnson Neuroectodermal Syndrome

Search GEO for disease gene expression data for Johnson Neuroectodermal Syndrome.

Pathways for Johnson Neuroectodermal Syndrome

GO Terms for Johnson Neuroectodermal Syndrome

Sources for Johnson Neuroectodermal 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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