MCID: MHR002
MIFTS: 33

Mohr Syndrome

Categories: Bone diseases, Ear diseases, Fetal diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Mohr Syndrome

MalaCards integrated aliases for Mohr Syndrome:

Name: Mohr Syndrome 58 77 54 60 74
Ofd2 58 54 60
Oral-Facial-Digital Syndrome Type 2 54 60
Orofaciodigital Syndrome Ii 58 54
Oral-Facial-Digital Syndrome, Type Ii 58
Oral-Facial-Digital Syndrome, Type 2 74
Oral Facial Digital Syndrome Type 2 54
Orofaciodigital Syndrome Ii; Ofd2 58
Orofaciodigital Syndrome Type 2 60
Oral Facial Digital Syndrome 2 54
Orofaciodigital Syndrome 2 54
Mohr Syndrome ) 41
Ofd Syndrome 2 54
Ofds Ii 58
Ofds 2 54

Characteristics:

Orphanet epidemiological data:

60
orofaciodigital syndrome type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
mohr syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mohr Syndrome

NIH Rare Diseases : 54 Orofaciodigital syndrome type 2 (OFDS 2) is a genetic condition that affects the development of the mouth, face, hands, and feet. It belongs to a group of disorders called orofaciodigital syndromes (OFDS), which are characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. Signs and symptoms may include: cleft lip and/or palate, additional or fused fingers or toes (polydactyly or syndactyly), characteristic facial features, and congenital heart defects. Although it is highly suspected that OFDS 2 is genetic, the exact gene that causes the syndrome has not been identified. It is believed to be inherited in an autosomal recessive pattern. Although there is no specific treatment or cure for OFDS 2, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

MalaCards based summary : Mohr Syndrome, also known as ofd2, is related to orofaciodigital syndrome and hypoxia. An important gene associated with Mohr Syndrome is NEK1 (NIMA Related Kinase 1). Affiliated tissues include tongue, heart and bone, and related phenotypes are finger syndactyly and high palate

Wikipedia : 77 Oral-facial-digital syndrome is a group of at least 13 related conditions that affect the development of... more...

Description from OMIM: 252100

Related Diseases for Mohr Syndrome

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

# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome 10.2
2 hypoxia 10.1
3 lipomatosis, multiple 10.1
4 pleomorphic lipoma 10.1
5 polydactyly 10.1
6 joubert syndrome 1 10.1
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
8 renal hypoplasia 9.9
9 cleft lip 9.9

Graphical network of the top 20 diseases related to Mohr Syndrome:



Diseases related to Mohr Syndrome

Symptoms & Phenotypes for Mohr Syndrome

Human phenotypes related to Mohr Syndrome:

60 33 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
2 high palate 60 33 occasional (7.5%) Frequent (79-30%) HP:0000218
3 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
4 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
5 micrognathia 60 33 frequent (33%) Occasional (29-5%) HP:0000347
6 telecanthus 60 33 frequent (33%) Occasional (29-5%) HP:0000506
7 conductive hearing impairment 60 33 frequent (33%) Occasional (29-5%) HP:0000405
8 postaxial hand polydactyly 60 33 frequent (33%) Occasional (29-5%) HP:0001162
9 abnormal oral frenulum morphology 60 33 frequent (33%) Frequent (79-30%) HP:0000190
10 median cleft lip 60 33 frequent (33%) Frequent (79-30%) HP:0000161
11 finger clinodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0040019
12 bifid tongue 60 33 frequent (33%) Frequent (79-30%) HP:0010297
13 hamartoma of tongue 60 33 frequent (33%) Frequent (79-30%) HP:0011802
14 preaxial foot polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001841
15 hypoplasia of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000685
16 submucous cleft soft palate 60 33 frequent (33%) Frequent (79-30%) HP:0011819
17 broad hallux 60 33 frequent (33%) Frequent (79-30%) HP:0010055
18 tongue nodules 60 33 frequent (33%) Frequent (79-30%) HP:0000199
19 y-shaped metacarpals 60 33 frequent (33%) Frequent (79-30%) HP:0006042
20 agenesis of central incisor 60 33 occasional (7.5%) Frequent (79-30%) HP:0006289
21 broad first metatarsal 60 33 frequent (33%) Frequent (79-30%) HP:0010068
22 complete duplication of hallux phalanx 60 33 frequent (33%) Frequent (79-30%) HP:0010100
23 malar flattening 33 frequent (33%) HP:0000272
24 depressed nasal bridge 33 frequent (33%) HP:0005280
25 clinodactyly of the 5th finger 33 frequent (33%) HP:0004209
26 hypoplasia of the maxilla 33 frequent (33%) HP:0000327
27 brachydactyly 33 frequent (33%) HP:0001156
28 broad nasal tip 33 frequent (33%) HP:0000455
29 preaxial hand polydactyly 33 frequent (33%) HP:0001177
30 postaxial foot polydactyly 33 frequent (33%) HP:0001830
31 accessory oral frenulum 33 frequent (33%) HP:0000191
32 bifid nasal tip 33 frequent (33%) HP:0000456
33 flared metaphysis 33 frequent (33%) HP:0003015
34 lobulated tongue 33 frequent (33%) HP:0000180
35 metaphyseal irregularity 33 frequent (33%) HP:0003025
36 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
37 cleft palate 60 33 occasional (7.5%) Very frequent (99-80%) HP:0000175
38 protruding ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000411
39 apnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002104
40 taurodontia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000679
41 atrioventricular canal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0006695
42 tachypnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002789
43 cone-shaped epiphyses of the phalanges of the hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0010230
44 arachnoid cyst 60 33 occasional (7.5%) Occasional (29-5%) HP:0100702
45 thick hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0100874
46 talon cusp 60 33 occasional (7.5%) Occasional (29-5%) HP:0011087
47 velopharyngeal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000220
48 infantile muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008947
49 mesomelic leg shortening 60 33 occasional (7.5%) Occasional (29-5%) HP:0004987
50 hypoplasia of the epiglottis 60 33 occasional (7.5%) Occasional (29-5%) HP:0005349

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
telecanthus

Skeletal Spine:
scoliosis

Head And Neck Mouth:
cleft palate
tongue nodules
high-arched palate
midline cleft lip
hypertrophied frenula
more
Skeletal Hands:
brachydactyly
syndactyly
preaxial polydactyly
fifth finger clinodactyly
short hands
more
Neurologic Central Nervous System:
porencephaly
normal intelligence in majority
hydrocephaly

Head And Neck Ears:
conductive hearing loss

Skeletal Feet:
bilateral preaxial polydactyly
partial duplication of hallux
broad cuboid first metatarsal
extra cuneiform bone

Chest External Features:
pectus excavatum

Growth Height:
short stature

Skeletal Skull:
wormian bones
zygomatic arch hypoplasia
maxillar hypoplasia

Head And Neck Nose:
broad nasal tip
bifid nasal tip
low nasal bridge

Skeletal Limbs:
metaphyseal irregularity
metaphyseal flaring

Head And Neck Teeth:
absent central incisor

Clinical features from OMIM:

252100

Drugs & Therapeutics for Mohr Syndrome

Search Clinical Trials , NIH Clinical Center for Mohr Syndrome

Genetic Tests for Mohr Syndrome

Anatomical Context for Mohr Syndrome

MalaCards organs/tissues related to Mohr Syndrome:

42
Tongue, Heart, Bone, Cerebellum

Publications for Mohr Syndrome

Articles related to Mohr Syndrome:

(show all 22)
# Title Authors Year
1
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). ( 27530628 )
2016
2
Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II). ( 26566416 )
2015
3
The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype. ( 23732295 )
2013
4
The S. pombe histone H2A dioxygenase Ofd2 regulates gene expression during hypoxia. ( 22235339 )
2012
5
Schizosaccharomyces pombe Ofd2 is a nuclear 2-oxoglutarate and iron dependent dioxygenase interacting with histones. ( 21949882 )
2011
6
Combined anomalies of the palate in Mohr syndrome: is preoperative electromyography of the palate useful? ( 14966745 )
2004
7
Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations. ( 12000897 )
2002
8
Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. ( 10521839 )
1999
9
Mohr syndrome: a rare case and distinction from orofacial digital syndrome 1. ( 10734352 )
1999
10
Mohr syndrome (oro-facial-digital syndrome II)--a familial case with different phenotypic findings. ( 8835325 )
1995
11
Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome). ( 2387087 )
1990
12
Prenatal diagnosis of Mohr syndrome by ultrasonography. ( 3911193 )
1985
13
Mohr syndrome variant or Joubert-Boltshauser syndrome? ( 6705246 )
1984
14
The Mohr syndrome: are there two variants? ( 6352094 )
1983
15
Mohr syndrome in two siblings. ( 6663289 )
1983
16
Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome? ( 6686259 )
1983
17
The heterogeneity of oral-facial-digital anomalies. Report of a case of Mohr syndrome. ( 554046 )
1979
18
Heart malformation as a feature of the Mohr syndrome. ( 908999 )
1977
19
Mohr syndrome and skeletal dysplasia, ? New syndrome. ( 1227555 )
1975
20
Mohr syndrome with subclinical expression of the bifid great toe. ( 4414705 )
1974
21
Mohr syndrome or oral-facial-digital II: report of two cases. ( 4527225 )
1974
22
Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). ( 5146584 )
1971

Variations for Mohr Syndrome

Expression for Mohr Syndrome

Search GEO for disease gene expression data for Mohr Syndrome.

Pathways for Mohr Syndrome

GO Terms for Mohr Syndrome

Sources for Mohr 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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