MCID: MHR002
MIFTS: 33

Mohr Syndrome

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

Aliases & Classifications for Mohr Syndrome

MalaCards integrated aliases for Mohr Syndrome:

Name: Mohr Syndrome 53 72 49 55 69
Ofd2 53 49 55
Oral-Facial-Digital Syndrome Type 2 49 55
Orofaciodigital Syndrome Ii 53 49
Oral-Facial-Digital Syndrome, Type Ii 53
Oral-Facial-Digital Syndrome, Type 2 69
Oral Facial Digital Syndrome Type 2 49
Orofaciodigital Syndrome Ii; Ofd2 53
Orofaciodigital Syndrome Type 2 55
Oral Facial Digital Syndrome 2 49
Orofaciodigital Syndrome 2 49
Ofd Syndrome 2 49
Ofds Ii 53
Ofds 2 49

Characteristics:

Orphanet epidemiological data:

55
orofaciodigital syndrome type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
mohr syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 252100
Orphanet 55 ORPHA2751
MESH via Orphanet 42 C538585
UMLS via Orphanet 70 C0026363 C2931889
ICD10 via Orphanet 33 Q87.0
MedGen 39 C0026363
UMLS 69 C2931889

Summaries for Mohr Syndrome

NIH Rare Diseases : 49 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. Last updated: 9/12/2016

MalaCards based summary : Mohr Syndrome, also known as ofd2, is related to blood group, i system and polydactyly, and has symptoms including malar flattening, hypertelorism and pectus excavatum. An important gene associated with Mohr Syndrome is NEK1 (NIMA Related Kinase 1). Affiliated tissues include heart, tongue and bone.

Wikipedia : 72 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 blood group, i system 9.9
2 polydactyly 9.9
3 orofaciodigital syndrome 9.9
4 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
6 cleft lip 9.8
7 skeletal dysplasias 9.8
8 preaxial polydactyly of toes 9.8
9 renal hypoplasia 9.8

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



Diseases related to Mohr Syndrome

Symptoms & Phenotypes for Mohr Syndrome

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Mohr Syndrome:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 frequent (33%) HP:0000272
2 hypertelorism 31 HP:0000316
3 pectus excavatum 31 occasional (7.5%) HP:0000767
4 high palate 31 occasional (7.5%) HP:0000218
5 hydrocephalus 31 occasional (7.5%) HP:0000238
6 scoliosis 31 occasional (7.5%) HP:0002650
7 depressed nasal bridge 31 frequent (33%) HP:0005280
8 short stature 31 frequent (33%) HP:0004322
9 cleft palate 31 occasional (7.5%) HP:0000175
10 micrognathia 31 frequent (33%) HP:0000347
11 short palm 31 HP:0004279
12 wormian bones 31 occasional (7.5%) HP:0002645
13 telecanthus 31 frequent (33%) HP:0000506
14 clinodactyly of the 5th finger 31 frequent (33%) HP:0004209
15 hypoplasia of the maxilla 31 frequent (33%) HP:0000327
16 conductive hearing impairment 31 frequent (33%) HP:0000405
17 brachydactyly 31 frequent (33%) HP:0001156
18 broad nasal tip 31 frequent (33%) HP:0000455
19 preaxial hand polydactyly 31 frequent (33%) HP:0001177
20 postaxial hand polydactyly 31 frequent (33%) HP:0001162
21 postaxial foot polydactyly 31 frequent (33%) HP:0001830
22 median cleft lip 31 frequent (33%) HP:0000161
23 accessory oral frenulum 31 frequent (33%) HP:0000191
24 syndactyly 31 occasional (7.5%) HP:0001159
25 bifid tongue 31 frequent (33%) HP:0010297
26 preaxial foot polydactyly 31 frequent (33%) HP:0001841
27 bifid nasal tip 31 frequent (33%) HP:0000456
28 flared metaphysis 31 frequent (33%) HP:0003015
29 metaphyseal irregularity 31 frequent (33%) HP:0003025
30 tongue nodules 31 frequent (33%) HP:0000199
31 porencephalic cyst 31 occasional (7.5%) HP:0002132
32 lobulated tongue 31 frequent (33%) HP:0000180
33 bilateral postaxial polydactyly 31 HP:0006136
34 agenesis of central incisor 31 occasional (7.5%) HP:0006289
35 partial duplication of the phalanges of the hallux 31 HP:0010101

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:

38
Heart, Tongue, Bone, Cerebellum

Publications for Mohr Syndrome

Articles related to Mohr Syndrome:

(show all 20)
# 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
Combined anomalies of the palate in Mohr syndrome: is preoperative electromyography of the palate useful? ( 14966745 )
2004
5
Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations. ( 12000897 )
2002
6
Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. ( 10521839 )
1999
7
Mohr syndrome: a rare case and distinction from orofacial digital syndrome 1. ( 10734352 )
1999
8
Mohr syndrome (oro-facial-digital syndrome II)--a familial case with different phenotypic findings. ( 8835325 )
1995
9
Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome). ( 2387087 )
1990
10
Prenatal diagnosis of Mohr syndrome by ultrasonography. ( 3911193 )
1985
11
Mohr syndrome variant or Joubert-Boltshauser syndrome? ( 6705246 )
1984
12
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
13
Mohr syndrome in two siblings. ( 6663289 )
1983
14
The Mohr syndrome: are there two variants? ( 6352094 )
1983
15
The heterogeneity of oral-facial-digital anomalies. Report of a case of Mohr syndrome. ( 554046 )
1979
16
Heart malformation as a feature of the Mohr syndrome. ( 908999 )
1977
17
Mohr syndrome and skeletal dysplasia, ? New syndrome. ( 1227555 )
1975
18
Mohr syndrome or oral-facial-digital II: report of two cases. ( 4527225 )
1974
19
Mohr syndrome with subclinical expression of the bifid great toe. ( 4414705 )
1974
20
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....